In their 2009 American Journal of Human Genetics paper “Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine” Tucker et all discuss the basic workings of past and present sequencing technologies. As all of the sequence technologies that we have discussed in class and are detailed in this paper become commonplace we as health professionals and as a society will have to address a number of issues. One of the things that I liked about this paper is that the authors step away from a simple review of technologies to the much harder to describe and interpret area of ethical considerations. They break this issue into four subsections consent, interpreting sequence data, the rest of the data, and storing sequence data.
After reading the paper I want you to choose one of these subsections and address questions within that area. Try to answer the question from the perspective of the patient and the clinician. Explain your answers. Then be sure to to comment on someones else’s take.
Gillespie Lab 
Group 3, Question: Should patients be informed of incidental findings that indicate an increased (or reduced) risk for that disease that can be prevented or ameliorated by early detection? What if this disease cannot be prevented or ameliorated?
If I were a patient I would definitely want to be informed of findings like this. If I was at an increased risk for a disease I would want to know so I could immediately take the steps to prevent it, and if it couldn’t be prevented I would still want to know for personal reasons and to plan how to spend the rest of the time I would have. If I was at a reduced risk I would want to know, just because it would give me piece of mind. If the disease couldn’t be prevented I would still want to know, because like I said earlier-for personal purposes such as planning my life and preparing my loved ones.
If I were a clinician, I think this decision would be a lot more difficult. If given information about a patient having a reduced risk for any type of diseases I would definitely tell them so that they wouldn’t have to worry. If I was in a situation where the patient had an increased risk for a preventable disease I would notify them as soon as possible so that they could quickly take steps to try and prevent the disease. If I was in a situation where the patient was at an increased risk for a disease that wasn’t preventable, I honestly don’t know if I would be so sure about telling them. I wouldn’t want to be the one to have to break such unfortunate news to a patient but in the end I think I would just so that they could prepare for what is to come.
Lauren, I think as a patient I would also definitely want to be informed about incidental findings that might or might not be prevented. I think knowing something too early can help you plan your life because when it’s too late there is nothing left to do other than grieving. You are so right when you said you would want to know so you could immediately take the steps to prevent it. I also loved when you said if it couldn’t be prevented then you would still want to know for personal reasons and to plan how to spend the rest of the time you would have. It’s great that you show what you would do if the disease can be prevented and what you would do if the disease cannot be prevented. I agree as a clinician, I think this decision of telling the patient is lot more difficult. You said that that if a patient have a reduced risk for any type of diseases you would definitely tell them so that they wouldn’t have to worry and this is a great point. But I think when you are in a real situation where the patient had an increased risk for a preventable disease that situation can be real challenging. You have to be very careful with the way you tell them so the patient doesn’t get frightened even though it’s preventable.
Lauren, I agree with you that it would be uneasy to tell a patient who had the disease that was not preventable or could not be ameliorated. But at the end, I would have the same decision with you that to tell and let them know in order for them to be prepared for what was going to happen in the future.
If I were a patient, I would actually prefer not to be inforemed of anything because my whole quality of life would change. If the muation becomes a terminal disease that is irreversible, the individual spends the last few “normal” days of his or her life preventing something that has not even occured.
I would also want to be informed of this kind of finding. I think the important words are “can be prevented or ameliorated by early detection”. In this case, I absolutely agree that patients should be informed. Just as a patient is informed of different options to cure a medical problem, a patient should be informed of findings about the risks of a disease and then the patient can then make an informed decision about what, if anything, should be done. In this case the person conducting the tests might have a legal as well as ethical or moral obligation to inform the patient. A physician who is treating a patient has a duty to the patient and that duty probably includes helping him prevent or ameliorate any future disease. Preventive medicine is probably part of physician’s obligation to his patient.
If the disease cannot be prevented, then there is no point to being informed about the findings. In order to deal with a situation in which there are “incidental findings” of this kind, the individual doing the testing that results in incidental findings should first have the patient sign a consent form. This consent would allow the patient to request information about these kinds of incidental findings or refuse the information.
Adedayo, i understand that you would want to live your last few days as normally as possible, but wouldnt you want to know you were going to die so you could do some important things you’ve always wanted to do before it is too late.
I definitely agree that the patient has every right to know because like I mentioned in my post, I think hope is a very big factor. I agree that as physicians it will most definitely be difficult to tell the patient of their ill diagnosis, but it is important for the patients to know because it is their life and they should be able to have access to know what is going on with their own physical bodies!
I think it’s definitely important for a patient to know ahead of time. I think it’s important for them to realize, and come to terms with their future. I wouldn’t care if it couldn’t be cured, it’s my body and I’d like to know what’s going on with it! However, it does becomes an issue for a clinician because they have to break some unfortunate news to their patients; people who look up to them and expect them to have the answers for everything, people who trusted them with their very own lives, and took to heart everything they said. I think it’s important that physicians are really trained to handle these type of situations, and it’s really important that physicians have a good handle over themselves when it comes to these issues.
I definitely agree that patient need to know everything about the disease ahead of time it will help patient to start medical treatment to prevent growth of disease.And I also agree that clinician should be trained good and know everything how to handle different situations with patients.
I completely agree with everything you said and feel the same way about patients being aware of their terminal illness so thet can address important issues immediately
Group 1: Question- Should whole-genome sequencing be done when
the same question can be answered by more limited
(e.g., locus-specific) testing?
As a patient looking for an answer to a specific disease, I would want a thoroughly detailed test. Knowing that more variables may be discovered by using whole-genome sequencing would influence my decision to have it done. As a patient I always want the to know exactly what is wrong. You don’t want to leave the doctor’s office with more questions than answers.There are advantages to sequencing the whole genome when it comes to diseases that don’t have a predominant mutation or involves multiple mutations. It should always be done with patient consent, and with detailed explanation of what was discovered.
As a clinician I would also recommend that a patient get the whole genome sequenced. Some of the limited tests may not include all the variants present in an individual. I would want to be as thorough as possible in determining the predisposition and protection to diseases. I believe that a patient would want to have a thorough understanding to what diseases they might be prone to and what to do to prevent them. I may also be able to provide a more efficient and unique drug treatment. It is important to practice preventative medicine and whole-genome sequencing may provide an answer to preventing disease.
I would also like to know my whole-genome sequencing for the simple saying that I prefer to be “safer than sorry”. But as a clinician I don’t agree with you. By identifying what diseases a person could tell, I would feel like I am dooming this person. I compare it to telling someone they have cancer. Imagine a patient’s reaction to that statement. Now imagine of you had to tell the patient “According to the genome test, you can have prostate cancer, diabetes, liver cancer, alzheimer’s, ect”. It would be hard to listen to all the things that can go wrong with you at the same time, it could make a person paranoid. Would I recommend it for my patients? No, I would simply let them know both sides of the spectrum. Would I want it myself? Yes, I am already paranoid, so I would want to know everything.
While rationally, a person might say “Yes, i want to know everything that can go wrong so i can prevent it”, in reality not everything is preventable so most of us do not want to carry that extra baggage of what might go wrong. All of us have a general idea of what to do to keep us physically healthy such as a balanced diet and exercise but to sequence the whole genome to look for potential diseases that may not be preventable would be creating a hysteria that isn’t necessary. While i agree that the whole genome should be sequenced for people, i do not agree that everything little thing about the sequence should be total unless absolutely necessary. For instance, as Valentina mentioned about cancers that might come around later, unless there is a huge probability of that occurring, it should not be mentioned. Instead, doctors might suggest possible changes pertaining to immediate health that may help reduce the chances of such diseases.
Agreed, as ive always been taught, if your going to do a job you might as well do it right. Why do a limited test when the full version is out there and is out dating the limited tests. When money is an issue then limited testing could be done when needed.
Group 2: Interpreting Sequence Data
Question: Should patients be informed of results that predict serious disease that cannot be prevented or treated?
From a clinician’s perspective, this definitely poses an ethical question. In most cases, if there is a high risk of predication for the disease, then the clinician should definitely notify the patient of the potential condition. Although it cannot be prevented or treated, this allows the patient some time to come to grips with the future and permits the family members time to understand and accept the change in lifestyle if the predication should come to pass. If the risk of the disease is low, then the clinician should monitor the patient periodically for increase in risk; until risk is established to be high, the patient should be kept in the dark in order to prevent significant lifestyle changes that may not be necessary.
From a patient’s perspective, the need to know what may be wrong or can potentially be wrong in the future is overwhelming. For the patient, the question is not about if being informed, but about when being informed. To be informed late in the game when doctors may have known for awhile will result not only in emotional pain but also anger over withholding life-changing information. As humans, patients would certainly like the time to prepare for inevitable death if it can be predicated. Tearful goodbyes, plans for family members, assets, wills, etc. seem small compared to life but necessary for peace of mind if they can be arranged. However, while patients may want to know in the case of low risk predications, I think that secretly they would like to be kept into the dark simply due to the emotional factor of what might happen. When something like that is at low risk and patients are informed, they may constantly worry about the disease coming to pass—which may unnecessarily change attitudes and lifestyles. Small disruptions like that can cause major problems that could have been avoided.
Sadia, I think your answer was very good and thoughtful. I agree that as a clinician, it definitely poses an ethical dilemma. The way you mentioned that until risk is established the patient should be kept in the dark in order to prevent significant lifestyle changes that might be unnecessary was very good. Even I mentioned that as a clinician I would like to be certain of my results before I can give out any information to the patient. I also mentioned that the technology should be improved for better results. We can’t just give out information without being certain that this result is accurate since it can change the patient’s life. But I also agree that as a patient I definitely need to know what might potentially be wrong with me. You are right and I also think we should be informed because the most important thing is being informed at the right time before it’s too late. I liked the way you said that patients would certainly like the time to prepare for inevitable death if it can be predicated but I also think not all the time patients are informed at the right time. Sometimes, they are informed too late and there is no way out for them because some diseases don’t show up in the early stage so it can be prevented.
I think your answer was very good and thoughtful. I agree that as a clinician, it definitely poses an ethical dilemma. The way you mentioned that until risk is established the patient should be kept in the dark in order to prevent significant lifestyle changes that might be unnecessary was very good. Even I mentioned that as a clinician I would like to be certain of my results before I can give out any information to the patient. I also mentioned that the technology should be improved for better results. We can’t just give out information without being certain that this result is accurate since it can change the patient’s life. But I also agree that as a patient I definitely need to know what might potentially be wrong with me. You are right and I also think we should be informed because the most important thing is being informed at the right time before it’s too late. I liked the way you said that patients would certainly like the time to prepare for inevitable death if it can be predicated but I also think not all the time patients are informed at the right time. Sometimes, they are informed too late and there is no way out for them because some diseases don’t show up in the early stage so it can be prevented.
I actually half agree and half disagree! I really believe that it is important for the patient to know whether the risks are high or low. Even if there may be distress for no reason, it is better to take that than to take a chance where someone may be terminally ill. These illnesses can be very spontaneous even if the risks are very small! But I do understand you’re point of view of the reason why you should just monitor them because a change in lifestyle is very hard to deal with and adjust to!
I agree with you that patients should be informed even though it cannot be prevented or treated! I think it is very important for people to know about their health conditions and also to prepare for the future. It is very hard for a clinician to tell the patients, but it is for the best. However, I think they are patients would not like to know about it because they feel that it is unnecessary to about it because it cannot be prevented or treated, so there is no point in knowing.
Group 3
Question: Should patients be informed of incidental findings that indicate an increased (or reduced) risk for that disease that can be prevented or ameliorated by early detection? What if this disease cannot be prevented or ameliorated?
As a patient I would want to be informed about incidental findings that indicate risk for disease. It would help me to start treatment at right time. I would definitely want to know exactly what is wrong at what stage my disease is and can it be preventable. I would ask doctor a lot of questions about my disease to make sure that I know everything that I need to do to get better. If it couldn’t be prevented I would still want to know what can I do to make my disease grow slower and plan how I want to spend the rest of the time in the hospital or with my family. As a patient I would certainly like the time to prepare for death if the disease is unpreventable.
As a clinician I definitely would inform patient about the disease and at what stage it is. If it is a preventable disease the patient has to know what kind of drug treatment they should use and what they need to do to prevent growth of the disease. If the patient has unpreventable disease I think it is hard thing for clinician to say but patient has rights to know and understand what the results will be at the end. I would also show and explain all drug treatment that would help to slow the growth of the disease.
I agree with the fact that the patient has the right to know. Although finding out that you are dying of a disease that cannot be cured is hard to accept, I would find it harder knowing I had the chance to find out and I didn’t. Living with the burden of knowing your days are limited would make me live my life differently, like doing things I would have left for another period of my predicted life span, which for me personally is better than living normally.
Kateryna, I agree with you that it is hard thing for clinician to say but patient has rights to know and understand what the results will be at the end. I would have the same decision with you that to tell and let them know in order for them to be prepared for what was going to happen in the future.
Kateryna, I agree with your analysis. I also believe that a patient has the right to know of their condition and it is the obligation of the medical doctor to keep patients informed. This way, the patient can weigh out their options and chose a treatment that best fits their situation.
Comments:
To Luis Graca: I completely agree with you on wanting to wanting to know exactly what was wrong, as a patient. You bring up a good point of not wanting to leave the doctor’s office with more questions than answers, and the more the patient knows, the more comfortable they will probably feel.
To Sadia Ahmad: I really liked your idea about ‘keeping the patient in the dark’ until they are at a high risk for a disease. I feel like sometimes doctors give patients too much information that may overwhelm them ,and since they might not know too much about their disease, it throws them into panic.
Group 2: Interpreting Sequence Data
Question: Should patients be informed of results of uncertain clinical significance?
Massively parallel sequencing technology is rapidly advancing and is likely to enable routine clinical applications in the near future. However, massively parallel sequencing raises a number of important ethical issues that needs to be resolved prior to carrying out this type of actions. But as a patient, I think I should be informed of results of uncertain clinical significance even though it may lack certainty. I would prefer the information to be reliable but I would still want know it anyway so I can take steps to prevent anything that might be dangerous to my health. A huge amount of personal medical data is produced by massively parallel sequencing but the fact is most of it is irrelevant to any particular clinical problem. Although the data is irrelevant, I think this information might be important to me as a patient in other ways or in the future. I agree that the ability to link the information to an individual person requires careful consideration and the development of appropriate rules or guidelines prior to carrying out this type of actions but I still think I should be informed. I think it’s very important to be able to interpret data that is received and if much of the data is unable to be interpreted then this technology needs to be improved so the clinical information can reliable.
Currently available massively parallel sequencing technologies or the introduction of others that are currently in development will make sequencing an individual patient’s entire genome for routine clinical applications in the near future. As a clinician, I think in order for massively parallel sequencing to be carrying out clinically the accuracy of sequencing needs to be increased. I think six billion base pairs of DNA per patient are a lot of data to interpret so I need be sure of the data and I need to be able to interpret it before I can give out any information to the patient. Computers and software can help but clinical interpretation of genome sequence data requires a well trained and experienced genetics professional. Disease or locus specific databases might be very helpful in determining whether a variant identified in a patient is causative of a particular disease. However, I think most of these databases are not designed to meet clinical standards and they vary greatly in their completeness and accuracy but rapid progress is being made in these areas. I think very soon this technology can be used to interpret important clinical data but until then we should wait to give out any clinical information that might be uncertain.
I disagree with Ummea. As a patient, I would not want to be informed of results of uncertain clinical significance. There are too many studies that have not been proven and that are being published and that just adds to individual confusion. I would not be comfortable making decisions based on any results unless I knew they had clinical significance. The researchers have an obligation to society and their sponsors to take the results and prove some clinical significance before the information was given out. Some patients may not be sophisticated enough to deal with such information and the fact that such information was given to them might cause them to believe it was significant and make decisions based on the results. It would make me uncomfortable to know such information were given to patients. I do believe though that a patient has a right to know about the risks of a medical procedure, even though the risks were not certain.
Group 1: Question- Should whole-genome sequencing be done when
the same question can be answered by more limited
(e.g., locus-specific) testing?
A limited test such as locus-specific only detects recessive mutation in diploids by treating normal individual with an agent that increases the mutation rate and are mated with a tester that are homozygous for recessive alleles at a series of specific loci. Then the progeny are screened for recessive phenotypes to find if the patient has the mutation. A limited test only finds a specific loci, therefore only answers a specific question.
Whole-genome sequencing decodes the entire DNA by reading all the single nucleotide polymophisms in a person’s genome. This process allows for a complete DNA sequencing that is able to detect gene defects or mutations. The scientific advantage of whole-genome sequencing is that all mutations are recognized at once, meaning that in one whole-genome test you can find different gene mutations while in one locus-specific test you can only find a single mutation. The disadvantage of whole-genome sequencing are the ethical issues involved. The patient has to be aware that a whole-genome test is able to identify all the diseases they are susceptible to. Scientist can’t detect whether patients are or aren’t going to develop a specific disease but they can tell the risks for getting the disease. It is the personal decision of the patient whether he or she wants to know what disease they could potentially die from or obtain. Researchers must also have a patient’s consent to study his or her genome, to study the genome, and confidentiality with the patient to protect their privacy. Also, the patient’s genome might be used by researchers in the future for research.
The answer as to what test should be used to find a mutation is up to the patient. If she just wish to find out if they have a risk of, for example, getting breast cancer, then she should have a limited test, but if she wants to find out all the diseases she has a risk of obtaining then she should do a whole-genome sequencing test. If she chooses the latter, then she has to be aware of the ethical issues that come along with it.
Group 3: Should patients be informed of incidental findings that unequivocally predict serious disease that can be prevented or ameliorated by early detection? What if the disease cannot be prevented or ameliorated?
From my personal point of view, I would like to be informed the truth if the unequivocal prediction of having the serious disease has been diagnosed. If the disease could be prevented or ameliorated, it definitely would be a good thing, so that I could start preventing and curing the disease with doctors rather than without noticing the disease and realizing after turning to more serious condition. It would be a pity. However, if the disease unfortunately cannot be prevented or ameliorated, I would still want to be told from doctors. The reason is not only the responsibility which I think the doctors should have to tell the true result of the diagnosis even the incidental findings, but also I could have greater chance to make my life differently from the life without noticing and just died like that. By noticing the disease, I could have chance to reform my psychological thinking in order to get rid of psychological worry and anxiety; therefore, I could focus on here and now and to gradually achieve the meaning and purpose on myself for the rest of the life. With this self-awareness, I could have better chance to accomplish the things which are more important to me and planning for the rest of my life in more valuable and efficient way than the life without knowing it. I could have myself ready for what is to come and died without pities.
John, i agree with you on many points especially toward the end where you said “died without pities”. To be totally guilt free or without regrets at death is a blessing simply because you feel as if you have accomplished something in your life. Too many people feel regret right before death due to a disease and never think about all that they have accomplished, the happiness they gave others. I certainly would like to know about potential disease that could be prevented early on so i can make the necessary changes in my life. And even if it can’t be cured, that doesn’t mean i should stop living my life. In fact i should be more joyous with the time i have been given to see what I have to see. It can never be easy to face death, put it certainly can be peaceful.
I agree that an individual should know what diseases they might encounter later in life in order to prevent the disease. However, I feel the patients whole quality of life will be diminished in attempt to prevent a disease that may or might not eventaully develop later in that persons life.
Group3- Questions: Should patients be informed of incidental findings that unequivocally predict serious disease that can be prevented or ameliorated by early detection? What if the disease cannot be prevented or ameliorated?
From the perspective of a patient, I believe that it is very important to inform me about this serious disease; especially when this disease can be prevented or ameliorated when it is detected in an early stage. The earlier I know about this medical situation, the earlier I can look for preventions and can ask for advises form my physician. Even if the disease cannot be prevented, I still think it is important for me to know because I need to know and to find out the reason why I have this unpreventable disease. After I find the reasons and the causes of it, I would like to inform the people around me so they can be cautious about it. Although there is no way to prevent or to ameliorate the medical situation, this medical condition will affect my life span and my life styles and everything I do. There are things I need to take care, such as my family, my friends, and my job…etc.
From the clinician’s point of view, I think it is my duty and responsibility to inform patients about their medical conditions. If the disease could be prevented when it is detected at an early stage, it is important to inform them the situation immediately so that the medical conditions would be get worse. I can treat them with appropriate medical cares to help the patients to prevent the medical situation; the treatments can also help the patients to feel better physically and emotionally.
If the disease could not be prevented or ameliorated, I would still inform my patients about it, even though it is very difficult to break this terrible news to them. I believe that my patients still have their rights to know about their medical conditions. I would try my best to comfort them about it, and would try and help to encourage them to continue to live their lives to the fullest even though it is very difficult to do so.
Hoi, I think your answer was nice. You put yourself in the patient’s position like it was you which was good. I liked how you said you would especially want to know about it when this disease can be prevented and I agree with you thoughts. Who would not to be notified of a serious illness that can be prevented but if it cannot be prevented then there is no way out. I also liked that you wanted to know the reason why you have the unpreventable disease which was very interesting. You said that you would still inform the patients about the disease even if the disease could not be prevented and I think that’s a good point because all patients have the right to know if they have a serious illness. I agree that it’s very difficult to break this terrible news to them but you have to be careful with the wording. You mentioned that you would try your best to comfort them about it, and would try and help to encourage them to continue to live their lives to the fullest even though their disease is very serious which is really good. But when patients hear such news, usually they start grieving because they know it’s serious.
Hoi, I think it is great that you would provide counseling to your patients if they get bad news. I agree that many people might want to find out if they will get a disease and if they did, they would be very proactive and try to find out as much as they can to cure or prevent it. I also agree that if you were aware of a disease you can make accommodations to make sure your family is okay and everything is in order.
I personally would not like to know my condition, especially if it can not be cured. I would be so consumed by my condition that I would not be able to focus. I would think about when my time will come. I would be so overwhelmed that I would not know how to enjoy life no more. In another scenario, what if you had a kid that was 8, that has a high chance of getting a disease, how can you go about telling someone so young or even their patents that they might get a disease that can not be cured? I guess that why I think that your counseling advice is a great idea!!
Group 1
Consent: Does whole-genome sequencing require a different level or kind of consent than other genetic tests or medical assessments?
Yes, whole-genome sequencing requires a different level or kind of consent. Individuals choosing to undergo this specific test must be informed of everything. They should be informed of the process and procedure they will undergo. They should be informed of the different test: massively parallel sequencing versus Sanger Sequencing versus array. Clinicians or laboratory technicians should explain that the massively parallel sequencing platforms will analyze their genome alongside with other individuals and that this procedure has a higher potency for error. They should explain the reason scientist and physicians want to replace Sanger Sequencing and array with massively parallel sequencing. They should inform the patient that it is cheaper and faster. They should inform the patient of the potential impact on clinical testing in medical genetics. If possible, a video should be shown to all individuals who are considering this type of testing. The physician should keep the patients result confidential both from the patient (if they wish not to be informed of any genetic mutation they harbor) and from any other person. The patient’s information should not be used in statistics or anything of the like. The shortcomings of the instruments should be included. Technology’s limitations include the inability to read homozygous deletions. Also, this technique is only used to identify single nucleotide mutations. The short read lengths make the new sequence assembly more difficult and less complete. Clinicians should be informed of the proper way to maintain the instrument. The price of the instrument would cause the test to be very expensive. Insurance would have to cover the cost of the test. Implementing the use of a new instrument has to pass through several checkpoints. Not only does the use of the instrument require societal approval, but ethical controversies also emerge.
Every procedure has it own risk and benefit and every physician is suppose to get some form of informed consent, meaning that they understand what they risks and benefits are. During a trial a physician will inform the patient that is a trial that they can participate in, but it is completely under the patient’s discretion. As long as they do that and the patient is okay with it, that’s a green light, it is nothing more than a report. Many patients get tests, very few ever ask for the results so if they do not want the results but still believe in the practicality of the exam, they can do the exam and not ask for the results.
Adedayo, I agree with you on your assessment, patients should be completely made aware of what options are available for them. Oftentimes, patients don’t ask enough questions about procedures that directly effect them and their well being, and that is dangerous for many reasons. By not asking enough questions, patients can put themselves in danger medically by opting to allow procedures that they aren’t well enough educated on to proceed about them. Physicians have a responsibility to educate their patients and make sure they’re informed of the different margins of error associated with the different techniques, as well as any potential dangers. Your response was very nicely structured and you considered all potential factors that should concern the patient as well as the physician
Group 4 – Storing Sequence Data
Do physicians or clinical laboratories have a responsibility to retain a patient’s genomic data for long
periods of time (or throughout life) in case future reanalysis is necessary?
I think that the physicians do have a responsibility to retain a patient’s genomic data for a long time because it is a good form of record keeping. These records would be an advance that can be used to predict future occurrence of genetic disease. A good record of past and present illness within a population can tell the physicians to look out for a specific trend. This trend would be something that they can test for specifically to prevent the progression of a disease. It would save facilities a lot of money if they had a lead on what to test for instead of testing for anything and everything. It would be irresponsible if there was warning signs of a specific disease and the physician did not evaluate these warning. If they physician has the genomic it would only do the patient good because they more they know, the better the treatment and thus the outcome. Physicians are supposes to practice confidentiality so your records should be safe with them. In addition to better treatment, the genomic data can be used to monitor a disease progression. If there were past records, it can be compared to the new records to see if there is a better prognosis.
Where should individual sequence data be stored, and who should be responsible for the stored data?
I personally think that the physician can hold a copy but the patient should have a right to opt out meaning that if they wanted to take their genomic data home, they should be able to. It would just be more convenient for the physician to hold on to them so the patient does not have to carry it with them every time they visit the physician. Besides many things can happen to the individual’s sequence data or they might forget and so forth, making it hard for the physician to look after the patient. Physicians have to respect the patient’s autonomy and since it is the patient’s personal information, if they decided that it would be better off with them so that others cannot look at it, it should be their call. If they patient allow that physician to keep a copy of the individual sequence, I would assume that they would keep it in their office, much like how they would keep a patient’s charts in their office. Since everything seems digital, it would not take up much room to store the file in a hard drive or even a sky drive, were it would take up no space at all.
Who should be able to obtain access to an individual’s complete genomic sequence? The individual?
Any treating physician? Insurance companies? Police (e.g., for criminal investigations)?
I think that the only people who should have a right to the genomic sequence would be the individual and the physician. Since the sequence belongs to the individual, there is no sense withholding the information from them. The physician should also access it because they are supposed to look out for the patient’s best interest, do no harm. They can better treat the patient’s and the patient’s future family with this information. As for insurance companies, I do not think they should have access because they are out to make money and I think that if they had this information, they might just withhold insurance for people who are more likely to get a future disease. Even if they did not withhold access to insurance, they might change them with a higher premium for coverage because they would be considered risky. As for police, I do not think they should have access till they get a warrant because they cannot assume someone will become a criminal and charge them, which would be unjust.
Under what circumstances should stored genomic data be used for purposes of identification (e.g., for identification of disaster victims or confirmation of citizenship)?
I would not make much sense to use genomic data to identify someone, it seems more like discrimination. I think it would be okay to use it when the individual can no longer be identified physically and all they had was some sort of DNA. Using genomic data to identify someone would be confusing and unnecessary.
I completely agree with your perspective on physicians keeping and analyzing a patients genomic data because at the end of the day they are there to help and prevent any foreseeable future health conditions.
In regard to the question about who should have access to one’s genomic sequence, I agree when you say that it should not be accessible by outside parties. It is only asking for trouble. In certain situations it may be necessary, but their is a greater risk of misuse.
Group 4
Question: Who should be able to obtain access to an individual’s
complete genomic sequence? The individual?
Any treating physician? Insurance companies?
Police (e.g., for criminal investigations)?
As an adult, I understand that there is certain information that I would like to remain permanently private. I would not post my social security number on a social networking website, nor would I be willing to let a stranger have complete access to my financial records. Information such as my complete genomic sequence is also documentation that I would like to keep private, however, under certain conditions, I do believe that it may appropriate, and in some cases absolutely necessary that I give authorization to a second party to have access to my genomic sequence. In my opinion, it makes perfect sense for authorities in medicine as well as law enforcement to catalogue individual genomic sequences. For medical purposes, access to the entire genomic sequence may provide the physician(s) the diagnostic tools they need to accurately treat underlying conditions that may not be fully identified using existing diagnostic methods/techniques. Thus, from a medical standpoint, patients will be able to receive more efficient, thorough medical treatment that could actually be more cost-effective due to the decreased need for constant medical attention. For law enforcement, possession of individual genome sequences can be highly beneficial in several applications. For one, law enforcement officials can use their catalogue of genomes to identify missing persons. Also, law enforcement can use the information they have to connect an individual to a criminal act. Thus, I believe the only parties that should have access to an individual’s genomic sequence is that individual, law enforcement officials (when necessary) and the patient’s trusted physician.
I agree with you when you say that physicians and law enforcement officials can use the genomic sequence of an individual as a productive tool. However, our society is not perfect. Even the physcians and law enforcement officials that we trust can misuse our personal information. This may lead to a slippery slope situation. If we trust a few authorities with such sensitive information, it may motivate other authorities to have access to the given information. Therefore, it is best that only the individual has the right to his or her own sequence. If any other authorities should need the information, they must obtain written consent.
Group 2 : Interpreting Sequence Data
Q: Should other family members be informed of findings that have direct implications for them that were found on analysis of a relative’s genomic sequence?
Findings probably should not be disclosed to family members. Before that could be done, guidelines would have to be put in place. Rights of privacy would also have to be considered. Before even considering disclosure to another family member, someone would have to determine and define what constitutes a “finding with direct implications”. For example, does direct implication mean that the family member being informed is likely to develop an pathogenic disease ? If so, are there “direct implications” if he is 75% likely, or 90% likely to be affected by the information obtained? There would have to be other information disclosed to the family members about the sequencing project as whole (including the methods used, complications and accuracy). All family members should not be informed “formally” if they are at risk of any disease. However, I believe that a family member of someone who had been sequenced has the right to obtain the information obtained from the sequencing, after clear standards and guidelines for privacy have been put into effect.
Not many individuals know what diseases they may have in the future. This technology could take the joy out of living for many people. Of course many people may just simply choose to opt out of receiving the information, but like most new technologies, once they spark and begin to be used they become widespread. People who may have never wanted the information might become so anxious about not knowing about any future medical issues that they might feel they had to obtain the testing. Cell phone use and technology could be an analogy. When cell phones first came out they were expensive (and still are today) and some people felt they were useless and didn’t want to have one. But today it is nearly impossible to be an active part of society without having a cell phone.
In the future, people may feel obligated to have genomic sequencing if they are informed about the results of a family member. Newborns may not even be given a choice about their own genomic sequencing, if a family member receives information that causes them concern. This is because “genotyping of other family members is helpful to assess pathogenicity, especially with dominant diseases for which the presence of a mutation in an affected child and its absence in the normal parents suggests that the variant is casual. Individuals, might conform their lives around any future medical issues. It seems to me that the joy of living life and doing as we please might be taken away. Ultimately, by having the genome sequence of a person available to anyone of his or her family members, it may fuel a widespread adaptation of this technology causing it to change our lives forever.
Group 1: Should whole-genome sequencing be done in children or incompetent adults?
I think that whole-genome sequencing should be done under consensual conditions. The article mentioned that screening can be done to detect certain diseases, mutations, etc. and I feel that someone should not be genetically discriminated against. Just as we had discussed in class, it would be unfair for employers to hire those who are desirable based on their genes. This lets others play to an advantage over those who may show a disorder in their genes but do not have any obvious effects. This sort of technology could dramatically change a persons status in society because they could be labeled based on their genetic make-up.
On the other hand, I think that whole-genome sequencing can be beneficial under the consent of a patient. This technology has potential to help those who do not know they have a gene for a specific disorder (etc), and/or a patient could learn how to best treat a disorder that they are already aware of.
Yes, I totally agree with you! I think that the sequencing should be done with the patients’ consent because patient has their rights and freedom to decide what they want to do with their bodies and their genes. Sequencing the genome of patients can also increase the knowledge of the patients because after the result comes out patients will know more about their genes and how does their bodies works. Patients would start to be more aware of their health conditions.
Group 3
Question: Should patients be informed of incidental findings that indicate an increased (or reduced) risk for that disease that can be prevented or ameliorated by early detection? What if this disease cannot be prevented or ameliorated?
I think patient should be informed of any risk if the disease can be prevented or ameliorated by doing so. Early detection is key to increased chance of cure and it helps patients to prepare themselves for treatment. So, as a clinician or lab personelle, informing patient of their risk for disease before the situation turns out bad.
However, there are diseases in this world that we can’t cure ‘yet’. In addition, there may be a disease that is too shocking to a patient that will make the patient to give up hope for life. In this cases, informing them of their ‘risk’ alone can cause serious problems. Even though it is only risk and there won’t be any disease actually, the patient who was informed will be shaken in fear and worsens his or her body’s condition. For example, there won’t be many people who would remain calm after diagnosed a tumor that can be either negative or positive. In some actual cases, patients are excluded from knowing the truth until the patient can deal with the fact. Clinicians use very meticulous methods to inform patients. I strongly agree with current methods of hiding fact to patient for a while to build up enough buffer first.
You make two really great points, and i totally agree with you about making the patient aware about the illness they have or might have, because if there is a chance the illness or disease could be cured its better that the patient is informed as soon as possible so they can seek medical attention. As i was reading your second statement about keeping some of the information closed due to its severity, i personally think that any results or outcomes should be told to the patient no mater what the circumstances are just in case if they would want to do anything about the illness.
Group 4: Under what circumstances should stored genomic data be used for purposes of identification (e.g., for identification of disaster victims of confirmation of citizenship)?
After a disaster has occurred, everything is a mess. Family members frantically search for their friend and/or relatives under the rubble or around the area of where the incident took place. Some are lucky to find their friends and/or relatives to be alive and or maybe suffering from minor to major injuries. Others are not as fortunate and found their friends and/or relatives to have perished. Extreme cases include where the disaster victims’ bodies were dismembered due to severity of the catastrophe such as tornadoes and earthquakes. Such cases like these, the family members want to know if the dismembered body is a friend or a relative of theirs. After taking a blood sample from the body, the doctors will sequence the DNA and compare to a DNA database that contains all the people living in that area. This task could identify whose family the dismembered part of the victim belongs to. Authorized personnel such as physicians or rescue teams must record who asked for identification for a person. This way, a complete account could show easily who is still missing and whose family members to contact to inform of this tragedy.
Stored genomic data could also be used to identify one’s citizenship to one’s country. This could indicate if one is an illegal immigrant in a country. When finding criminals, stored genomic data could help police to arrest the criminals and accomplices faster and more efficiently so as to not catch the wrong people who are suspected. This could lead to people’s lack of trust in police’s competence. People would say police are just bringing in anyone that may be or may look suspicious or have some connection to the criminal case when actually; the majority of the so called suspects don’t even know what’s going on.
When used correctly, stored genomic data could help solve an extremely wide variety of problems a lot easier and faster. This type of assistance when used for the wrong goals could cause immense trouble and chaos to everyone such as identity fraud, ransom or used in illegal experiments which is why only authorized personnel can access this data. The number of authorized personnel should be limited to a small number so as to restrict the amount of people to get their hands on this data.
I decided to answer the same question as you and I see that we have similar opinions on the topic. This genetic information could have several important applications in identifying individuals for several purposes. In my analysis, I’ve mentioned responsible use by law enforcement to either identify victims and missing persons as well as tying suspected criminals to alleged crimes. Also, I mentioned that physicians may be able to use the sequences to employ more effective examination techniques and more accurate diagnoses. You, however, added further important scenarios that I neglected to mention. I agree that in a time of disaster cataloging this information can help families identify missing family members when they have exhausted all other resources. This can save precious time as well as resources in extensive search efforts.
Group 4- Do physicians or clinical laboratories have a responsibility to retain a patient’s genomic data for long periods of time (or throughout life) in case future reanalysis is necessary?
Massive Parallel Sequencing has enabled researchers and scientists to sequence millions of pieces of DNA. With the advancement in technologies clinics have been able to use this technique to detect sequence mutations in specific genes. Nowadays there is a struggle to find a much more efficient process to sequence genes, without having to spend a large amount of money. The technique of massive parallel sequencing is an attractive one to most scientists because, unlike most other methods, it is less costly, and much more effective. This method allows for the sequencing of all types of human genes, both large and small. Of late, clinics have been using this process to sequence mutated genes that could aid in the detection of severe diseases. It can help recognize variations that may incline, or even protect against the development of intricate diseases.
As a patient, I would be in favor of storing sequenced genomic data for long periods of time. Genomic data is too important to keep for a brief time period. For example, if I had my genes sequenced, and it was found that I had no alterations, but it is then reexamined a few years later and it is found that I have a mutation, I would have wanted my data to have been stored. Having the opportunity to know what I am predisposed to, or could already have is such a great advantage. Another example why I believe that genomic data should be stored is if later on in my life, I develop a tendency for a disease, and then I have a child, I would want to know that I have that inclination in order to discern the probability of my child inheriting that predisposition.
As a clinician, I would be opposed to storing sequenced genomic data for long time periods. The genome for one human is large enough; imagine storing all of the information for 200 maybe even three hundred people. Not that I do not care for my patients and their well-being, but it would consume so much space to store everyone’s genomic sequence on file. It would not only be a problem to store it for a long period of time, but also at the present there is only so much space that computers can hold and people can keep track of. If I had to compromise I would say to keep the genomic data for maybe a few months at most. I believe that it would be extremely difficult to follow up on everyone’s sequence for more than that length of time.
Micheal I really believe that your point of view about keeping genomic data for long periods of time is a more realistic view of the general idea, because any body can just say, yeah go keep it all information there, but you look at this problem from both sides of the spectrum bring up really important points like the amount of space all that information we have to store.
mike you made a very good point saying that genomic data is very difficult to store and also you mentioned people who are curious about their genetic defect would want to know while others would rather not. People like you said would often wonder whether their children would have a genetic disability. This is very well thought out.
Group 4
Question: Who should be able to obtain access to an individual’s complete genomic sequence? The individual? Any treating physician? Insurance companies? Police (e.g., for criminal investigations)?
I believe that an individual have a choice of whether or not the government or their physicians should have their complete genomic sequence. What I mean by a choice is the relationship one choose to have with the individuals who has their complete genomic sequence, for example a person can choose to keep their complete genomic sequence private to themselves from their physicians, but if one decided that they want to know what kind of genetic disease they might be prone by allowing the physician to have a copy of their complete genomic sequence, they have to allow the physician to obtain that information. Complete genomic sequence should also be kept in a data based along with finger prints and dental records by the government if we choose to, because if we want to be a citizen of a country and receiver certain freedoms or rights we need to relinquish some private information. So that in the unfortunate event that one commits a crime it can be used in a crime investigation or if a body needs to be identified. When it come to the case of the insurance companies I believe that there should be a special or a better coverage if one allows the company to have their complete genomic sequence, but people who doesn’t want their Complete genomic sequence to be released shouldn’t be denied claim or any less of a general coverage.
Coming from a similar background, I realized how important it is to tell patients of their status regardless of whether it can be prevented or not. My grandmother is fighting cancer currently, but I knew how hard it was to have her know that she had colon cancer. But in the end it had to be done because if she hadn’t known, it might have had a serious psychological and emotional bearing placed on her. Although the patient might feel an emotional sadness when they hear that they are diagnosed with any type of disease, it is important to let them know because they may live their lives differently than they would have had they not known that they had the disease. To be honest, it feels like deception to not tell the patient of their current diagnosis if they had a disease because although the doctors do not say anything, patients do not have the knowledge that they do, so to an extent, it is the doctors taking advantage over what the patients do not have access to. If the patient has a risk for that disease, but not the actual disease, I believe that the patient should most definitely be told in order to be aware and cautious of the disease because it can save and impact’s one’s life. However, even if that person already has the disease and it is a life-threatening disease that cannot be cured, it is still important for that person to know so that they can still have the opportunity to be part of rehabilitation if necessary because I believe that hope is a powerful factor, possibly not in one’s physical body, but emotional mindset, and everybody wants to have that chance. Although the emotional burden is there when one is told that they have a disease that cannot be cured, it can also be temporary, and also the patient will not feel betrayed by anybody.
I really agree with the statement you made about how patients are deceived by doctors. It’s weird, because doctors are generally care-takers for us. But by not letting us know what might possibly be wrong with us, they potentially place us at more of a risk of getting sicker; which is technically totally against who they are. I also agree with your statement about hope being a big factor in the healing process. I honestly think a good attitude, and hope for your future and two key factors in living with a terminal illness. I believe that science literally proves that happier people live longer.
@Hyungsub Ahn
Patients should be informed of the severity of their illnesses and the possibility of its success in curing it. If its curable, patients should be told of what measures to take and how to cooperate with caring physician to combat the disease. If its incurable, then the patient could plan out what to do with the limited remaining time of his or her life.
@Adedayo Oduwole
Physicians should notify their patients on how their DNA will be sequenced and tested for mutations that would cause illnesses in them. This of course should be explained thoroughly and clearly in the most comprehensive language that the patients could understand, assuming that they may have limited science knowledge. They should be informed of all risks if any and schedules to see their results. The results should also be interpreted clearly so patients will have an idea of what to expect and what to do next.
Group 3 Question: Should Patients be informed of incidental findings that unequivocally predict serious disease that can be prevented or ameliorated by early detection? What if the disease cannot be prevented or ameliorated?
If I was a patient and I had a disease that could be cured I would want to know. I would want it to be watched out for and helped if it could be. If it could not be cured or cared for in any way I don’t think I would want to know.
I believe the conditions of the results should be agreed upon before the person has their DNA analyzed. It is a doctors duty to save lives and help people so if a person has a problem that could be cured or treated why not save the person, after the doctor informs the patient then they can choose to follow up with treatment and tests to follow the disease progression. If it cant be cared for that should the patients choice if they want to know.
I agree with you but also disagree with you. i believe a patient should be made aware either way; if its curable or not, a patient should know. The physician should be help responsible if they know and they decide to keep it confidential. Patient should be made aware of a disorder whether its curable or not so they can their family can be well prepared. The disorder not only affects the person livelihood but also the livelihood of their family.
Group 1 –
Should whole-genome sequencing be done in children or incompetent adults?
As a clinician, whole-genome sequencing in children and incompetent adults is beneficial. With this information, the clinician will know all the specific detail and orientation of that individual. Clinicians could then inform their patients if they are at any risk of getting a disease and guide them with preventative steps that could ultimately prolong their life. In incompetent adults, clinicians could use their whole-genome sequence to attempt to locate what is actually causing that individual to be incompetent.
As a patient, people are 50/50. Some people are ready to see their whole-genome sequence where as others are not. Would you want to know if you were going to have a disorder sometime in the near future? The decision that the patient makes concerning whole-genome sequencing has to be respected by the doctor.
yeah Chris, I agree that this whole-genome sequencing is a legit attempt to locate the source of a targeted problem. I honestly think that if the patient wants to take that risk, they might as well learn of the pros and cons of this process and a success rate so that the technique can build on credibility.
Chris,
I fully agree with you. Why should children and incompetent adults not have the right to obtain a whole genomic sequence? As a such patient, this information will only benefit me. It will help me learn about my future and present. As a doctor, this information is a tool to move research forward.
I also agree with whole genome sequencing and how it can be very beneficial. People can be well prepared rather than being blind sided with a disease or disorder. It can help in research and solving or treating many rare disorders. The problem is that patients are as willing to get things like this done even though it will benefit them.
I definitely agree with you, especially your final sentence where you say that the whole genome sequencing needs to be respected by the doctor, because this is a patients choice, not the clinicians. A patient has the right to refuse any treatment or test they do not want, so I 100% agree with your statement that this new technology as well needs to be respected by a doctor if the patient does not wish to receive it
Q:Who should be able to obtain access to an individual’s complete genome sequence? The individual? Any treating physicians? Insurance companies? Police( e.g criminal investigations)
From a patients point of view I believe an individual’s genome should be kept to them and away from any other possible source. I believe so because anyone who may know my genetic sequence may take advantage of that privilege and find ways to manipulate it. Individuals who wish to share their complete genome sequence should be asked for permission. On the other side sharing your genome with a physician might help scientist discover cures to diseases and it may benefit the field of pharmacogenomics. If an individual is asked to take part in solving a criminal investigation and refuses to give up his genome I believe that he or she must be penalized. I believe that when a government agency ensures that your genome sequence be confidential it is therefore indisputable that your genome will not be shared with anyone else but them for law intensive purposes. I believe insurance companies should be left unaware of our genetic difference because they may manipulate us by raising the rates of our insurance policies based on our genetic defects.
From a doctors standpoint I believe I should not have any access to an individual’s complete genome unless I am given permission to do so. For example if a patient has a genetic defect it would be of my concern to ask but never to demand my patient to submit to me his complete genomic sequence. If I was a physician however I would not allow any other figure to take someone else’s genetic code not even a criminal investigator or police officer. I believe genomic sequence is best left to the doctors to analyze and no one else.
I strongly agree with keeping out the insurance companies because then they then have the excuse to jack up the rates. Other than sky high rates it will be harder to find a good plan within a budget or to find a company that will accept you at all.
You actually make a really valid point about keeping your genomic data private, but the way i thought about it was by comparing it to a social security number. Your social security number pretty much defines you, but you only trust reliable sources with your social security, and i guess the same goes with your genomic data, but as you said if this data gets into the wrong hands it could potentially lead to alot of trouble
Group 4
Do physicians or clinical laboratories have a responsibility to retain a patient’s genomic data for long periods of time (or throughout life) in case future reanalysis is necessary?
If I were a patient who has their genomic data on file, I would actually want the clinical laboratory to keep track of my data for a long period of time. For example if I was faced with an illness but at that moment didn’t have the technology or medicine to cure the illness, id hope one day scientists and doctors would analyze different genomes or think of innovative ways to incorporate the patients genome in order to cure the disease/illness. I don’t think the doctors could do much by keeping your genomic data on file, its just like keeping your medical history on file at your physicians office or at the hospital. Just imagine how easy it would be for doctors to just pull up your genome on the computer and analyze any diseases or illness that you might have or might get, I believe keeping it on file would benefit the patient more than hurt them in any way.
Now looking at this question in the clinical point of view, even though keeping ones genome on file might be beneficial to the patient, but could you imagine how many different genomes the clinic or the hospital has to keep track of? It might be a more cost effective way to keep track of patients but it could possibly be too much information for the physicians and doctors to keep track of. It would just be too much too handle, because if you account for the hundreds of people who go to the emergency room or the doctor every day, that would be a substantial amount of data to keep track of, and if information this critical is misplaced or lost, it won’t be all that easy to recover or to replace.
I like your explanation on why it is beneficial to maintain a record of genomic data, especially since the patient wouldn’t really be effected in a negative way since physicians practice confidentiality (HIPAA). I also liked how you used the example of storing data for the development of a cure in the future, or at least a strategy to develop against the disease.
i think is your explanation is very well thought out and i agree. Your logic behind saying genomic data is very hard to keep organized is well suited. Genomic data definitely has repetitive sequences that are indeed hard to keep track of.
group: 1 question: under which circumstances should genome data be used for identification purposes? e.g. (for identification of disaster victims or confirmation of citizenship
Six billion base pairs of DNA per patient are a lot of data to
interpret, let alone use for identification purposes. Computers and software can help—in fact, they are essential—but clinical interpretation of genome
sequence data will always require a well-trained and verse genetics expert. So clinically speaking, if the goal is to obtain genotypes of a comprehensive set of single-nucleotide Polymorphisms (SNPs), copy-number variants (CNVs), and
other structural variants (SVs) for disease prediction, it would
make most sense to focus on these polymorphic regions. If the goal is to identify a rare sequence of mutations that only takes place in a limited subset of loci for example, the loci that produces autism, it may be wise to engage with a hybrid plan that may include disability, it may be most productive to pursue a hybrid
strategy that might include sequencing paired-end reads to
assess copy number variation genome-wide as well as selective
sequencing of all exons of loci known to cause recessive
forms of intellectual disability. All that to simply just say that it’s still a general uncertainty but the bio-information sheds new light in analyzing genomic anomalies of any kind.
Genomics although not fully understood by the typical patient, can still be a reliable base for that patient to ask questions about their well being. For example, if I found out that there was a DNA sequence that may contribute to the consistency of a stroke or sleep apnea, i’d like to know what i could do to hinder either one of those. For that question to answered, they would have had to identify and test the specific loci that may cause it. With some understanding of the explanation, if there is a solution discovered to decrease the chances of my rendering of either unfortunate circumstance i’d gladly take it and i’m sure any patient would agree.
El-Shawn,
I like the ideas that you developed early in your response in relation to genome testing for identification purposes. Definitely over a period of time and after thousands of tests a people will begin to understand the benefits that this type of testing offers.
Group 3, Last Question:
“Do physicians or clinical laboratories have a duty to recontact patients if sequence data that were previously obtained are later found to have serious medical implications?”
In the perspective of a patient, I would definitely like to know if there were any medical implications in regards to my health, whether it was from the past, the present or in the future. It’s the physician’s, and clinical laboratories’ responsibility to contact me and let me know about anything that could be potentially life-threatening to my future, no matter how late they find it. I wouldn’t like to have a disease or a lifelong sickness spring on me, when years before, it could have possibly been prevented.
In the perspective of a clinician/physician, this is different. At what point would one stop analyzing data? There should be a certain time period in which they recollect the data, and then refresh the results. This way, there’s no room for any unknown medical implications. It’s easier and provides clear and accurate data. It’s the responsibility of the patient to come back to their physician or come back to their clinical lab, to recollect, reanalyze, and resequence their data. It’s the safest way to be very sure that your health history is up to date and checked for any terminal illnesses, personal consequences due to ancestry or paternity, or any other mishaps in relations to genes and inheritances.
I agree with your response in that patients should be notified if there is something anticipating in their lifetime. However, as doctors contact the patients, they should say it in a way to not scare the patients or imply anything bad about it. Doctors should start off with, “Hello, I have some information I would like to discuss with you concerning your genetic information. Would you like to further know about what we found?” Patients should have the ability to opt out of any conversation before knowing anything bad is going to happen. Sometimes there maybe false alerts and the fact of knowing something bad is going to happen but won’t happen would most likely negatively affect the patient psychologically.
Maryanne,
I agree with you that pateints need to visit their physicians to ensure that there is nothing wrong with their bodies or if there is a family history of having a certain disease, they have the duty to keep themselves updated. As for clinicians, they have the responsibility to recall their patients if something new has been discovered. However, it should not be spoken over the phone; the patient should make an appointment to come see the clinician and discuss what the problem is. Sometimes, lab results may be overlooked, so it is important that patients know what went wrong.
Group 4:
Do Physicians or Clinical Laboratories have a responsibility to retain a patient’s genomic data for long periods of time (or throughout life) in case future reanalysis is necessary?
I believe physicians/clinical laboratories are responsible for retaining a patient’s genomic data. This is predominately due to the fact that it is a great way to analyze the possibility of inheriting a genetically linked disease, or even predict the possibility of the person’s offspring inheriting the disease. In addition, this procedure allows physicians to determine the development of pathogenic patterns within a society. This would allow for a counter measure against the pathogen/genetically linked disease to enter into a development stage, or at least grant them the opportunity to give a warning to the general public. The common hospital client would not have to worry about his/her information being spread around without their consent due to the fact that the physician/clinical laboratory have to follow the HIPAA code of conduct. So the generally your information would be kept private unless your consent is given (they must practice confidentiality). One thing to keep in mind is the fact that this would more likely benefit the client/patient rather than work against them.
I totally agree with your response in that genetic information should be used for research purposes only and not to target the individuals with a certain trait. Doing this would widely expand the knowledge on certain diseases and help get an accurate analysis of the potential diseases out there. If physicians are allowed access to patient’s genomic data, the knowledge of genetics would greatly expand. A lot of information that is currently not available would be uncovered in a short amount of time.
I agree with you, especially looking in the long run, and for the future it could be imperative that doctors should be able to retain a patients genomic information. If future analysis is needed then a doctor will be able to quickly look back on a previous test thats already been taken in order to help society more.
I also agree, doctors should retain the genomic information of their patients. Having this information will allow the patient and doctor to access the results at anytime. Only when patients no longer see a specific doctor is when this information can be released.
@Lauren
I completely agree with your take on certain situation from your patient and clinician point of view. It really makes a person think what if they had an opportunity to be saved from a preventable death, or even worse an untreatable one, would they want to really know? Personally I do not know if I would want to know if I had an incurable disease. It would be a tough decision.
@Ian
You make a great point about wanting to keep the sequence of a person private. I personally would not want anyone to know all about my business. There are many people that could use it for their benefits. Like you said, large insurance companies could raise rates for life insurance. I also agree with you when you talk about the relationship between doctor and patient and how far the confidentiality of the patient’s sequence can go.
Group 4: Who should be able to obtain access to an individual’s complete genomic sequence? The individual? Any treating physician? Insurance companies? Police (e.g., for criminal investigations)?
The individual should obtain access to their own complete genomic sequence because they have the right to know their own body construction. Individuals should be able to know what diseases they are prone for and what genetic risk they have based on their genetic compositions. However, if the individual does not want to know their own genomic sequence for any bad familial inheritance, they should have the option to not run the genomic test.
The treating physicians need the consent of the individual in order to use the data for research purposes. The physicians should not take their patient’s private genetic information and use it for their own use. The same applies for insurance companies and police. Especially for police, it invades the rights of the individual for privacy. If police are able to get hands onto the victim’s (or suspect’s) genetic information, they can use their information and generate something aimed against that person.
Insurance companies also should not gain information on individual’s genetic profiles because they would make policies that would exclude a wide range of people because of a susceptibility of a certain disease or trait. Insurance policies would be highly biased and that would create a huge discrepancy concerning the amount of healthcare people get. If insurance companies do get the genetic information of individuals, each individual would basically have a different health coverage. It would create a bigger gap of unfairness of what sickness is covered by the insurance and what is not.
Group 4:
Storing Sequence Data
Who should be able to obtain access to an individual’s complete genomic sequence? The individual? Any treating physician? Insurance companies? Police (e.g., for criminal investigations)?
All individuals have a right to their privacy and freedom. I can only imagine having such valuable information such as ones complete genomic sequence can only be used as a tool to move forward in our technologically advanced generation. However, we do not live in a faultless society. There is corruption in our health and law system. If such valuable and sensitive information such as an individual’s genomic sequence is left in the open for others to obtain, it will undeniably be misused. The individual obviously should have the right to obtain his or her own complete genomic sequence. Other treating physicians should also have the privilege of access to the sequence; this is in the benefit of the patient. However, it should only be after consent is given. Moreover, when we consider insurance companies and police we circulate a sticky situation. Treating physicians will use the information to benefit the patient, insurance companies and police officers may use the information against the individual. This is when we enter a win or lose situation for the patient. What if an insurance companies discover a costly disease in ones genomic sequence. This would drive the insurance company to drop the individual from the plan, which seems to be a common practice in our current health system. Having the insurance company obtain access to an individual’s complete genomic sequence will probably have minimum benefit to the patient, and more benefit to the insurance company. The right for police officers to obtain access of an individual’s genomic sequence is also a complex situation. In the patients view, this can work for or against their benefit depending on the situation. There is a clear need for legal clarification of a persons control over their genomic sequence from his body and the information they contain. This sequence provides a unique identifier for a person and information about potential diseases and conditions. This information is too valuable and too sensitive for misuse and misunderstanding for outside parties to obtain it without the persons consent. Therefore, the individual should have full control over their genomic sequence and the information it contains until they intentionally waive or transfer those rights to others. Thus, only the individual should have the right to take or use their genomic sequence and the information that it contains. Other physicians, insurance companies, police officers and laboratories should not be able to sequence, store, test or use an individual’s sequence without their personal consent. There are definite benefits and risks that are involved in this ethical predicament. Therefore, the individual should always be informed of any tests and medical or other uses of the information that may occur, who will have access to the information, how it will be stored and protected and what harms may occur from authorized and unauthorized access to that information. This works fully in the benefit of the patient. A physician may believe that they should have authorized access to the information in order to move research forward and to help counteract future diseases in a patient. Yet, the decision to who has access to their sequence should always be left up to the patient.
I became really curious about one thing. Many people who answered question about informing patients about the severity of illness even though it is incurable said that informing them will enable them to plan the remaining life. I am really wondering how many of you guys will be actually start counting your days and plan for what to do before death rather than complaining why I should be the one with the disease. I am not telling that we should hide facts. I am telling truth can be hurtful even more than diseases. To minimize that pain, we need careful preparations before telling the patients.
By the way, I am not trying to offense anybody nor pick a fight. However, just clinging onto things in too optimistic point of view can be dangerous especially for people like us who are going into the field that deals with life.
@graceryxp
i totally agree with you, because i think no matter how bad my situations gets as a doctor i have to tell my patiens about their condition and be honest with them, and at the same time give them the true meaning of hope and how well they can get by time.
Stored genomic data should be used for purposes of identification during times of emergency and for incrimination. During a national disaster such as the earthquake in Haiti and Chili, stored genomic data in my opinion would have helped in identifying those that lived and those that passed. Information would have been exchanged without difficulty to the families & rescue crews. I feel this would have helped the situation and made the whole process much smoother. In a situation like this, people (dead or alive) can easily have their identity stolen without their knowledge but with the help of the genomic data, this won’t happen at all. The genomic data will help the physicians in treating those injured. With the genomic data, they will have a better idea of who the patient is. They have more of an idea on what to and/or what not to provide the patient regarding medical treatment. In an incriminating situation, it can either put the right person in jail or free an innocent victim. There are plenty of examples of where innocent people are being locked up while guilty convicts are set free. I believe this can also help in stopping identity theft which seems to be a never ending problem.
i’m in Group 4
Group 3: Should patients be informed of incidental findings that unequivocally predict serious disease that can be prevented or ameliorated by early detection? What if the disease cannot be prevented or ameliorated?
Yes, patients should be informed of findings that predict a serious disease, and most definitely if the disease can be prevented with early detection. If the disease cannot be prevented however, the patient still should know what disease they have. When a doctor finds that something is wrong with their patient it is there duty to explain to their patient what is causing their body to be ill. If a patient is unaware of a disease that he or she has if a medical emergency ever occurs they will not be able to say if they have any previous diseases or infections that the medical personal should be aware of. I also believe it is just simply better to know than to not know. If my doctor diagnosed me with a disease, whether deadly or not, curable or not, I would want to be aware of it. I wouldn’t want to be kept in the dark about my conditions. Its my body, I should know whats wrong with it.
J’nelle,
I agree with you that it is better to know than not know. For patients to know what is happening to them, it can prevent future issues from arising. As you stated above, if a patient were to undergo surgery, it is important for the surgeon to know whether the patient has been or is suffering form a certain illness and whether it will be a problem to the surgery. Patients have the right to know about their diseases, and it is the clinician’s duty to tell the patients what they found, even if there is no cure. At least patient will have some background information with what their body is going through. Informing patients of their disease, curable or not, is significant for both the patient and their family members. It can prevent issues with their family members and family members can acknowledge the fact they too can undergo the same illness.
When genetic testing and sequencing comes into the picture one of the key things to remember is consent. Consent is the ability to give permission to another party while knowing the full extent of that decision. When sequencing a person’s genome there are many ethical questions that come up. But when whole-genome sequencing is offered to a person one should be given a different level of consent. As it stands right now whole genome sequencing and other partial genetic tests require the same amount of consent. This now brings into account whether or not whole-genome sequencing is even necessary. If the same results that are achieved by limited testing of the genome, then what is the point of sequencing the whole genome? Massively parallel sequencing will provide ways to identify many other undiscovered causes of disease. Massively parallel sequencing allows for the screening of mutations in hundreds of loci. It will also expand our knowledge of pharamcogenentics, cancer genetics, epigenetics and of complex traits. This is all very good potential information that we would be able to obtain from our own genes. We all have the choice in deciding whether or not our personal information can be put out there by genome sequencing. Another ethical question comes into play. Should sequencing of children and incompetent adults be preformed? This is a question with no easy answer. Technically children are under their parent’s responsibility till the consenting age of eighteen. The responsible thing to do is keep children safe and take every precaution in order to ensure their safety. But once that genetic information is out in the real world there is no getting it back. A person is eighteen who is to say that they would not want to have their information out there without their adult consent. Another challenge to deal with is the consent of incompetent adults. They are over the age of eighteen, therefore allowed to make their own decisions, but will they fully grasp what they are consenting to? But the biggest problem with whole genome sequencing is that people will not know anytime soon what they are exactly consenting to. The possibilities of the whole genome sequencing are at this moment in time limitless. New discoveries are proven and disproven. What a person may think they are consenting to may actually be something completely different.
Interpreting Sequence Data: Should patients be informed of results that do not have direct implications for them but do for other family members?
As a patient, it is important that he or she knows everything about the results, both the negative and positive. With a broader knowledge of what is happening, patients have a better understanding of their results actually mean and whether or not it will be a problem in the future for themselves and their families. Even if the results show no implications for them, but for other family members, patients should still be informed because they can prepare of what is to come. Family members can do things that can hopefully prevent the same thing from happening or make the situation a little better than what it actually is. With recessive diseases for example, one generation later may experience the same problem that has occurred two generations ago. If they were informed about the results, it wouldn’t be too much of a shock. Another example would be people with the Rh blood group or thalassemia trait; people who inherit these traits from their parents need to be informed that if they want children, it is important they their partner be checked for these traits.
For clinicians, it important for them to tell their patients what they found in their results, especially if it concerns their family members. By doing so, future problems can be prevented, or at least the other family members can be updated by visiting their physicians to detect new findings. Clinicians should work to create solutions, not hide things that will bring bigger problems. After telling the patient, the patient can decide whether he or she wants to inform their family members about the results. Patients put their health in the hands of clinicians, where they have the duty to take responsibility and tell the patients what is found. The relationship between a clinician and patient is supposed to be, meaning there should not be any secrets. Patients have the right to know what issues follow with regard to their results, especially if it concerns people on their family, and clinicians should inform the patients of their discovery, even if it’s bad news.
Question- Do physicians or clinical laboratories have a responsibility to retain a patient’s genomic data for long periods of time (or throughout life) in case future reanalysis is necessary?
As a patient i would most likely not want laboratories or physicians to store my genetic data if i had it sequenced for a particular reason. I would most likely want them to sequence and solve for the disease or whatever other reason i had my DNA sequenced and once they were done and everything was figured out or fix, i would want them to throw it away. As a patient, i would have those fears that, after all, it is my DNA and it is MY information and i wouldn’t want them to do any tests or analysis without my knowledge. And if i ever did need to have my genome sequenced again i would give them a new sample. My thought process would be that they would need a new sample anyway because there could have been significant mutations or changes that occurred after the first time my genome was sequences.
As a physician or clinician, i would prefer to keep the patients sequenced genome. I would respect them in the sense that i would not do any sequencing or testing on their genome without their permission, but i would definitely keep it. This was even if the did have to come back because of a different issue we would be able to sequence a new sample of their genome and we could compare the new and older samples. We might be able to catch differences that occurred over the years and it may be easier for us to find different health risks the patient might have that way instead of starting over with the new sample and not having a comparison.
We could even, eventually when sequencing becomes much quicker and cheaper, have this as a check up. Every 5 or 10 years say we could sequence a patients genome and compare last decade’s genome to this decade’s genome and see if there were any harmful or significant mutations or changes to the genome that the patient should be aware of.
Question- Do physicians or clinical laboratories have a responsibility to retain a patient’s genomic data for long periods of time (or throughout life) in case future reanalysis is necessary?
I believe that physicians do have the responsibility to retain a patient’s genomic data in case something else goes wrong with the patient. Instead of wasting time collecting more DNA the doctor would already have it to help prevent death by a certain disease. The keeping on storage of someone’s genomic data would help greatly doctors and patients and would be a great idea.
From a patient’s point of view I think it would be a good idea to keep my genomic data on record. With new technology coming about the patient could ask the DNA to be tested for a disease to see if there is a risk of something in the future. A patient knowing these details sooner could make the necessary steps to prevent the disease or prepare to fight the disease. With this help certain diseases can become less fatal or be completely wiped out. If I had the choice to keep my genomic data on record I would say yes because the possibilities of helping you and your family are endless.
Group 3, question: Should patients be informed of incidental findings that indicate an increased (or reduced) risk for that disease that can be prevented or ameliorated by early detection? What if this disease cannot be prevented or ameliorated?
If i were a patient i would greatly appreciate being informed of any findings on a disease that I am either suffering from, or have a possibility of suffering from. In my opinion any kind of information, whether it be good or bad, is information that someone can take and utilize in any situation. If I receive news that indicates I am at a lesser risk for a disease than I would be able to concentrate more on anything else currently happening in my life. I would be able to balance the risk o the disease with other priorities in life. Of course, if I received news that told me the opposite; that i now am at a higher risk of contracting a certain illness, I will be able to cast other priorities aside and focus on treatment and possible (hopeful) recovery. If the disease can be prevented by early detection, and i receive this news from the doctor too late, I would be furious and, due to my personality, put all the blame on the physician. This may or may not seem fair to the physician, but information this crucial causes individuals to act differently due to the position their in.
Say you are the physicians position: similar to the patient many emotions can and will run through your mind. If information that can aid the patient reaches the ears of the physician some may rush to help their patients. However, there can be a possibility that a doctor will hold this information from a patient because they wish to see if the patient has a very rare disease that can be presented to their superiors, and in turn reward the physician. Hopefully, this does not happen often. What if a physician is told that their patient now has a higher risk of getting a disease? He/she must feel some sort of fear or anxiety because it is this individuals responsibility to deliver bad news. This job must be tough, especially without knowing how the patient will react. Imagine if this physician is told that there is no treatment that can aid the patient. Should this physician be the bearer of bad news? The amount of pressure can very well be too much to bear, especially in this life or death situation.