Families Could Benefit From Gene Tests in Sudden Cardiac Death Victims Identifying mutation in deceased cuts costs for evaluating risk in relatives, study shows
Posted November 15, 2009
SUNDAY, Nov. 15 (HealthDay News) -- Genetic testing of people who've suffered sudden unexplained death is an effective and cost-efficient way of identifying genetic mutations that may put surviving relatives at increased risk for potentially deadly heart rhythm disturbances, a new study suggests.
Genetic defects that can cause sudden cardiac death occur in 25 percent to 30 percent of victims of sudden unexplained death. The current recommended approach is for first-degree relatives of sudden unexplained death victims to undergo comprehensive cardiac testing.
In this study, U.S. researchers compared the results and costs of postmortem genetic/molecular autopsy testing in 146 sudden unexplained death cases and found that 40 of the victims (26.7 percent) had either a catecholaminergic polymorphic ventricular tachycardia mutation (18 people) or a long QT syndrome mutation (22 people). Both are known to cause sudden death.
The researchers then estimated the costs of testing the 584 relatives of the sudden unexplained death victims. The total cost of postmortem genetic testing, genetic confirmation testing of the 160 relatives of victims who tested positive for mutations, and cardiac tests for both relatives of mutation-positive and mutation-negative sudden unexplained death victims was $6.78 million.
In comparison, comprehensive cardiac testing for all 584 relatives of the sudden unexplained death victims, followed by directed genetic testing, would have been more than $7.7 million.
"With less than 150 sudden unexplained death cases, use of a cardiac channel molecular autopsy would be estimated to save almost $1 million indicating a much less expensive way of evaluating those left behind," study co-author David Tester, a senior research technologist at Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minn., said in a news release.
"If you identify a mutation in a sudden unexplained death victim, you can do a simple genetic test in first-degree relatives to assess their risk and perform a disorder-directed clinical evaluation rather than a full clinical evaluation. If a relative is negative for the causative mutation, they may not need to undergo further clinical evaluation at all, and that saves money," Tester explained.
The study was to be presented Sunday at the American Heart Association's annual meeting in Orlando, Fla.
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Overall, I believe that the money saved from conducting tests after someone has died is too little to justify the idea of taking action only when someone has already died. It seems wrong to conduct tests on the dead in order to give an analysis on the other family members when a similar test can be preformed for 1/6 the extra cost without the death of an individual. Is saving the life with the 1/6 of the extra cost in the tests? I believe so. 1/6 the extra cost seems like a very small number in relation to a human life so we are not wasting numerous amounts of resources preforming unnecessary tests in this case.
ReplyDeleteFurthermore, the line of reasoning within the article clearly violates beneficence and Kantian deontology. If you have the possibility of screening a human being for deadly diseases without losing teh life of a family member, you should do everything in your power to do so. This is constant with the basic Kantian idea that human life is a final good. Furthermore, such an action would create good in the world, so it is also necessary from a beneficence point of view.
Tully Cheng
First and foremost in this study, one must question the autonomy of the deceased individuals, and whether or not the individual would have given consent for researchers to do genetics testing on him or her post mortum. The idea is quite similar to the in class essay topic regarding the deceased son and his mother's wishes for his sperm to be extracted. Given that the family members would have wanted this genetic testing to be done, is it ethical to violate the rights of deceased individuals simply because they can no longer voice their opinions?
ReplyDeleteI believe it is one thing to perform testing if the individual had provided some sort of living will, advanced directive, or other legal document stating that his or her body can be given to science for all medical and research purposes, but another to go above and beyond in an autopsy and test genes. As we discussed in class, genetic information is a highly controversial topic and privacy is a huge factor in determining whether or not tests should be performed.
In addition, conflicting theories of utilitarianism and consequentialism reflect the ethical dilemma between benefiting a great number of people by performing genetic testing on deceased individuals to benefit living family members, or the consequences of such actions that may violate rights of autonomy or other family members who may not wish to know the risks associated with their genes.
Alexandra Pitkin
The tests that are done are no worse than the general embalming process, so any person that consents to embalming would consent to this procedure from a point of view that only considers the sanctity of a dead body. The main ethical issue dwells around the dilemma that stems from the question "Would the deceased give his consent for this procedure and its subsequent release of information?" The ethical principle at stake is that of autonomy. If a person makes a choice before he dies, this autonomous choice should be upheld even after death. However, from the time that this person dies he no longer has ongoing autonomy. Unless he specified that he wanted his body to be undisturbed post mortem or that he wanted all of his genetic information to be kept confidential, no autonomy is violated by performing simple genetic tests on a corpse.
ReplyDelete@Tully, from what I understand of the article, I do not think the extra cost can save a life in advance. I think it has more to do with the fact that the money was saved from performing tests on the deceased individual versus performing extensive cardiac tests on the living direct relatives. Performing tests on the deceased individual then provides an extremely easy mechanism for the doctors to determine whether or not the relatives have the specific disease (if any) that caused the death.
ReplyDeleteIn a deontological sense, this discussion can sway either way. One may argue that the deceased individual has a duty to have his or her genes submitted for testing due to the fact that it may save the lives of the person’s relatives and produce greater good for all, tying in a utilitarian viewpoint with the deontological stance. From this viewpoint, the person would be deontologically bound to submit to testing even if they were alive. For example, if a person suddenly develops a very dangerous disease, it is their duty to have genetic testing done on their genome if it would facilitate the testing of their family members for this disease, and potentially save their lives.
The other deontological viewpoint to be considered is that of the person’s autonomy. As stated before, unless prior consent is given to such genetic testing before the individual died, the family members and the state have a duty to respect the autonomy of the individual and similarly protect the privacy of the deceased individual.
On the flip side, from a utilitarianistic approach, the deceased individuals that suffered from sudden unexplained death should be tested without question because doing so has the potential to save the lives of the individuals’ family members via preventive medicine, etc. Doing so will also save money, approximately $2000 per deceased individual’s family, which can be utilized for other things, whether it be for luxury or pleasure. Therefore, submitting the deceased individual to genetic testing has the potential to provide much good for many people.
I personally think that in a case such as this, the deceased individual should be submitted to genetic testing to help identify whether or not the individuals’ relatives are at risk for the particular cause of sudden death. Not only can it save the individuals’ relatives’ lives, but it saves money relative to the alternative.
I agree with Tully's post for the most part. Although from a strict utilitarian standpoint, it makes sense to save some money and have positive effects for the descendents by genetic testing the deceased.
ReplyDeleteHowever, people must consider the autonomy of the deceased and the rights of the deceased. People would not be comfortable to know that their bodies could be exhumed in th future for genetic testing and people would be hesitant to authorize the exhuming of their relatives' bodies even if for their own good as well. This moral qualm comes from Kantian deontology, which respects people as ends in and of themselves. Using the bodies of people as objects without any consent is a clear violation of this principle.
As Alexandra said, it is one thing to conduct science on an individual due to advanced directives and it is quite another to test all dead people to benefit their descendents.
Given the availability of other testing methods to get the same results, though slighly more expensive, it is immoral to infringe on the autonomy of the dead.
The ethical dilemma presented in this case pits the possibility of saving money but perhaps violating the autonomy of the dead against the possibility of spending more money to respect their alleged autonomy but using up resources that could go to a larger public welfare. The former option violates the principle of autonomy while the latter violates the principle of beneficence especially in terms of utilitarianism.
ReplyDeleteSo, the question then becomes which duty is stronger? Or which duty is prima fascia in this case? To come to an ethical solution, we must first evaluate the severity of violating either of these principles. It is quite clear that spending more money on genetic testing will detract from public resources and thus fail to uphold one’s duty to beneficence of the population. On the other hand, performing genetic testing on the dead violates their right to autonomy. We must examine, however, to what extent a dead person still uphold his or her right to the autonomy granted to the living. In the realm of ethics, autonomy is upheld by respecting one’s right to opinions and preferences that make up a person’s identity. This identity is product of one’s memories and experiences, memories that don’t exist after death. Furthermore, a person’s identity has an inherent quality of transformation as it changes each day with new experiences. A person who is dead, however, is not developing his/her identity and unable to hold any sort of preference about the world. Therefore, a person has no identity after death, thus no right to autonomy. While loved ones find psychological comfort in honoring the dead by respecting the autonomy of what that person might have felt if alive, a dead person has diminished autonomy if any. This means that, in the case of genetically testing the dead to save money and benefit the greater population, the duty to respect the autonomy of the dead is not as important as benefitting the living society.
As Alexandra stated, the autonomy of the deceased must be respected and we do not know if they would have allowed for the test to take place.
ReplyDeleteHowever, this is if we are looking from an individualistic perspective. The individual is dead and no amount of respect or autonomous rights will bring the person back from the dead. So no further harm is done to the individual by conducting tests. (This becomes complicated when different cultures feel that the dead body somehow is affected by this/ religiously opposed)
However, their family members are still alive and can possibly be at risk for developing a similar disease. It comes down to looking after the beneficence of a dead person or potentially salvaging the life of many family members that could learn from a test done to the dead individual.
By disrespecting the right of a dead individual, a doctor can potentially save the lives of multiple individuals that share the same genes.
It is the duty of the doctor to do the greatest good for the greatest amount of people (Utilitarianism) and by doing the test this is done.
However, controversy may arise when certain family members want to know the results of the tests and others don't want to know their risks.
One can infer that if one family member knows the rest will undeniably find out. It is best if the doctor demands an advanced directive, but if not exists then they should do the test
and then ask the parties involved (family members) if they want to know the results of the tests.
If the patients do not want to know, but the physician knows the results he can treat them without them knowing about their disease. However, the patient might think they are at risk when they aren't (placebo effect)
This test could potentially help the dead patient’s family use less resources if they know they are at risk for a certain disease and can prepare financially. This way, they are less prone to the risky behavior and will use less allocated resources if they are more careful about a disease they are at risk to develop.
If you are at risk for heart disease you probably won’t eat junk food and will want to exercise more and this test would help you eliminate further risk factor clearly helping the patient. Also the doctor would no what to look out for. (Might do cardiograms more often for someone at risk.)
Gellena Lukats
The question at hand is whether researchers ought to seek further investigation with relatives in order to find out more clinical information about sudden deaths. Also, whether family members ought to participate in research that may inform them that they are at an increased risk of dying as their recently deceased family member did. From a perspective that respects the autonomy of the individuals agreeing to the test there should not be a question of whether they can participate or whether the researchers should question the study. Researchers who can work with relatives of the recently deceased from sudden death are able to get the informed consent and the participants are well aware of the social and mental repurcussions of knowing that they too might be susceptible to the causes of sudden death. The genetic information in this case is not being masked for research of dangerous testing or conflicting ties, but rather a further investigation of the reasons why people are dying suddenly. If the costs are less when people get a test that tells them whether they are susceptible or not, than the cost efficient means would be to look into this policy and perhaps adopt it to see the results and the money saved.
ReplyDeleteThe dilemma here pits the autonomy of the dead person versus the greater good of surviving relatives. There are so many arguments for and against each of the stakeholders in this dilemma that it becomes nearly impossible for any of them to be reconciled. First comes the question of the dead person's autonomy. Does the dead person have any autonomous rights? Currently already in place are informed consent forms for cadaver and organ donation. Medical schools and hospitals are not authorized to harvest organs or dissect and study dead bodies unless there was prior consent. On the other hand, some funeral homes have services where they bank DNA from the deceased for future use by the remaining relatives for genetic testing. Another shade to the ethical dilemma arises here about who owns such harvested DNA? Who would own the genetic materials harvested from the bodies and to what extent would they/could they be tested? Who would the results be available to and would it be essential to inform all relatives of the results?
ReplyDeleteThese questions bring in the stakeholder position of the surviving relatives. For the beneficence of those alive, it would make sense to use the genetic information of the deceased to try and determine factors that could possibly be critical for survival. For example, genetic testing for a cardiac condition that could be contained with strict diet and medication would greatly benefit those alive. However, the next question arises of whether or not the remaining relatives want to be privy to such info. Do the relatives need to consent to being informed? Who is responsible for giving out this information and to what extent?
Other things to consider include the practices already in place concerning forensic analysis of dead bodies: including exhuming graves based court orders and autoposies deemed necessary for police investigations. These types of practices put the decisions for the dead in the hands of third party persons such as doctors, judges, and detectives. Should the closest relatives only be the ones determining what happens to the body? If the relatives want to involve third party persons with decisions/requests for what happens to the body, are the third party persons obligated to follow?
Society has deemed it unethical for certain practices to take place on a cadaver without prior consent, such as cadaver donation for science, and organ donation. On the other hand, autopsies and exhumed bodies do not require prior consent. When did we decide that a dead person only has certain rights but not others when it comes to autonomy? Obviously, genetic testing of the dead cannot be reconciled until practices currently in place are overhauled to determine a solid, comprehensive, and cohesive foundation for the total rights of the deceased. There is too much up ethically up in the air for money to become the determining factor.
I would argue that genetically testing a deceased individual for certain genetic mutations that may have caused his or her sudden death would not be ethically justifiable. First of all, I think informed consent is a predominant principle that should be adhered to the fullest extent possible, and in this case, I don't think it would be possible to attain informed consent from the individual. (Unless he or she had an advanced directive/living will that addressed this issue, or a surrogate decision maker in place to make an informed decision for him/her). In this circumstance, because the individual is deceased and can no longer provide consent to have his or her body autopsied and tested, and if these other mechanisms to provide consent are not in place, it would be unethical to do the testing.
ReplyDeleteAllowing testing in this situation without direct and explicit consent to do so generates the potential for a slippery slope, where it becomes unclear when it is justifiable and when it is not justifiable to do post-mortem testing on individuals who may or may not have consented to the testing if they were capable of articulating such a decision. Although one might argue that society could benefit from studying the genetic make up of this individual, the potential benefit to society should not trump the individual's right to making autonomous choices based on informed consent. Protecting an individual's principle rights in this case prevents against a slippery slope being created and in doing so, protects both individuals, as well as society as a whole.
Additionally, many of the other people who have commented on this post have presented the utilitarian argument that the testing should be done even with a lack of consent because it is in the best interest of the most people to do so. In terms of cost effectiveness and the potential for family members to gain valuable information about their own health from the testing, this argument is understandable. However, I think it also makes sense to consider what we don't know about this situation, which may, particularly in a consequentialist mindset, discredit the aforementioned utilitarian argument that the tests should be done.
First, according to consequentialism, the most justifiable action is the one that produces the most positive consequences for the greatest number of people. It is unclear, however, in this situation, what the most positive consequences would be and for whom. We don't even know for sure that the individual who passed away inexplicably did so as a result of a genetic mutation, as only 25 - 30% of sudden cardiac death results from genetic mutation (as cited by the article). We don't know if any or all of the potentially affected family members even want to know this information. We don't know what the implications of this information would be for the specific family members involved, and whether this would be helpful or harmful information to them. We also don't know what the individual who passed away would have wanted for him/herself and for his or her family. And lastly, for society as a whole, we don't know if the genetic mutation, which the individual may or may not even have, would be applicable to society in a way that the knowledge gained from its study would be beneficial to society.
Therefore, it is uncertain what the most positive consequences would be, as well as what course of action would produce the greatest good for the greatest number of people. We can not make the assumption that providing family members with information about the genetic implications of their relative's death or providing society with the opportunity to study the role of genetics in the death would produce positive consequences for the stakeholders, especially when doing so would come at the cost of adhering to the principle of informed consent. Therefore, I think it is ethically indefensible to conduct post-mortem genetic test on an individual.
In these cases, I feel that the genetic testing on the corpse would benefit their closest relatives. The ethical question here deals with autonomy. If the individual had specifically stated they wanted to keep their body undisturbed after their death, then the genetic testing should not be conducted. However, if the family member who had suddenly died did not indicate one way or the other, I do not see the issue in conducting the test. I am sure that the majority of individuals, if they had been alive and known that a test like this would help their family, I am positive most people would be in favor of it. By allowing them the chance to take the necessary precautions towards preventing or lowering the risk of cardiac problems, the family members may be given a better chance at a longer life.
ReplyDeleteIn regards to the cost of the testing, according to the article, money would esesntially be saved by doing the test on the cadaver. Therefore, I do not believe money should be the overlying issue in question. The main ethical problem still deals with whether it is in the deceased individual's right to allow this testing if they had not indicated one way or another prior to their death. I, however, still stand with what I previously stated that if the test will be of benefit to those they love, the test should be performed.
There is an ethical problem here as the genetic testing of the dead may violate their autonomy. The person is dead and unless they have written specific instructions there is no way of knowing that getting tested was consented. Though it may benefit the family it is still important to consider what the deceased may have wanted.
ReplyDeleteFrom a deontologists' view their is a duty of the doctor to protect his or her patients, dead or alive. It is also worth questioning if the family has a right to know whether or not they have a gene mutation. I believe that the perspective to view it from is the utilitarian view. What would produce the greatest good? TEsting the deceased would prevent the family through going through burdensome tests and procedures. It is also shown that testing the deceased would save a large amount of money. The only concern is whether or not the deceased's rights are being violated. They cannot give informed consent, but they could have designated a healthcare proxy. If this were the case it is up to the family to decide if the benefits of testing outweigh the violation of autonomy.
I find it difficult to put a price tag on someone’s health and believe that every step should be taken to assure one’s health. The difference in price between the two methods is relatively small, especially in terms of the amount of money spent on healthcare every year. Based on that I do not believe money or the cost of the two options should have any influence on the ethical principles regarding this situation.
ReplyDeleteThe ethical dilemma in this case is the autonomy of the deceased versus the greater good of surviving relatives and whether or not we should test the body of those individuals who are deceased without their consent. To answer these questions, I would look at similar cases and situations and work from there. The situation I would relate this case to, is organ donation. Of course if the person has a legal document expressing their wishes of being an organ donor or not, those wishes must be upheld; however many do not. In those situations, the family usually is given the right to decide what to do in terms of organ donation from their loved ones. Most family members would make the decision they feel would most closely match the desires of the deceased. I believe most people would want to help others especially if it were their own family in terms of donating organs. Therefore, I feel that many individuals would agree with a small medical procedure that could help protect their loved ones by providing vital information that could save their lives.
It is a shame that it takes a death of a family member for individuals to seek answers for their health. I believe that a person’s health and the health of their family should be the most important part of our lives. We should take all precautions and preemptive steps to assure that we are as healthy as possible. With that being said, I believe that if this test is a possibility and the other cardiac tests have not been done, that this medical procedure should be conducted. This test can save lives.
-KEENAN
In the same way that a person’s body can’t be carted off to a medical school to be dissected, or organs indiscriminately harvested without the consent of the individual prior to death, then it doesn’t seem that genetic tests can be done on the individual post-mortem without them having to agreed to it in life. Despite it being a cost effective measure that could potentially provide life-saving information for the individual’s family, their wishes don’t take away the individual’s autonomous rights as a fully competent adult in life, and don’t create actions they did not agree to do.
ReplyDeleteIn addition to this, the test is only to inform the family of a risk of developing a sudden cardiac condition that could lead to death. Thus, even if the genetic tests were allowed, it would still not definitively prove that disease/death would occur in that individual in that way. Many factors including lifestyle and environment come into play in an individual’s life to affect their health, so getting the test done or not for a discounted price would provide no more benefit than to know that they have a chance of dying the same way, which being related they could probably assume already.
So what I’m basically saying is that, if the individual did not agree to the testing, then it should not be done. If it is important to the family to know their risk for developing the disease, then the necessary tests are available to them, at a slightly higher price, but without the need to assume what their deceased family member would have wanted and disregarding what they may or may not have wanted done.
I agree that the issue here is whether or not the deceased individual has left specific instructions for his dead body. The autonomy of the individual should be respected. However, if the individual did not specify that he wished for his body to remain unaltered, then I think the genetic testing should be allowed if that is what the family members want. If the genetic testing violates any instructions that may have been left by the deceased individual, then the testing should absolutely not be carried out. I believe there is too much at stake to not perform the tests just because the deceased individual did not explicitly state that he wanted such tests performed after his death. Like another person said, families often make the decision whether or not to donate their loved ones organs because many people have not explicitly stated themselves if they want to be a donor or not. Once an individual is dead, the family under most circumstances should be trusted to carry out the deceased's wishes and it is not far fetched to assume that the person would want what was best for his family members who are currently living.
ReplyDeleteI don't think there is very much of an ethical problem here. The only one I see is that of autonomy. In a case such as this, which could end up saving such a large amount of money as well as helping the patients families, not performing the operation because of the question of autonomy would not be bringing the most good to the most people. The test can save so many lives in such an easy way, and it is not very much different form the normal procedure that most people go through after death. Also, for most families who are going to be there together, it would be safe to assume that the patient would want to do a relatively non-invasive procedure to help their relatives. Most people would probably choose to have this test done if they knew of the good that they could do.
ReplyDeleteA big factor in this case is whether one believes a dead person still has autonomy. I do not think there is a universal agreement on whether the deceased still have autonomy. There should definitely be a certain amount of respect for the dead, but many people see a dead body as just tissue with no rights. If a person does not leave how they would like to leave their remains then it is up to the relatives of that person on how to dispose of the remains. I do not think it is such a disregard of autonomy of a person for their family to genetic testing on a body that could potentially help save the lives of many people. As stated before it is no more invasive or destructing than the embalming process so it is not like the body is being disrespected.
ReplyDeleteThe main ethical issue here is regarding the deceased person's autonomy. While doing the genetic testing after the person has died does save a lot of money, they are doing so at the expense of the person's consent. I would definitely support the genetic testing after death if the person was able to consent to it before death. But the article states that these people died unexpectly potentially as the result of cardiac troubles. Personally, the fact that the person died suddenly is a very important factor because they person was unable to discuss their wishes regarding the issue of genetic testing after death. Doing the genetic testing without the person's consent is a violation of the person's autonomy. If this patient was alive it would be a clear ethical violation. Does a person lose their right to autonomy after death? Personally, I do not think they do, which is exactly why people make their wishes clear for after death.
ReplyDeleteTorri
In evaluating this case I think that at first the option of knowing exactly what you were in for seems like a good idea. This specific type of genetic testing seems not only cost efficient, but an extremely accurate way to predict serious health problems.
ReplyDeleteBut after evaluating the possible consequences of knowing whether or not you are a carrier of the specific genetic predisposition in general has a negative effect far out weighing the benefits. For one thing, the stress of knowing you posses certain genes which can cause a serious disease can be physically and mentally wearing. It is easy to see how thinking about it could slowly consume your life, always wondering if the smallest hint of illness could bring on a possible genetic condition. This article is a prime example of this- people who choose to know if they have the genetic disposition for catecholaminergic polymorphic ventricular tachycardia mutation or a long QT syndrome mutation could easily let worries about suddenly dying of a heart problem hinder their life and in that way decreasing their quality of life. And what if one person in a persons immediate family got the test while the others didn’t? What if the others don’t want to know about their predisposition for a possibly debilitating heart condition? If the disease is a dominant trait, meaning the possibility of all the family members having it is very high, would it violate the rights of your family for you to get the test?
Information like this, if not kept private, can also lead to possible discrimination. Companies won’t want to hire someone who would possibly die of a ‘sudden unexplained death’ . Something like that could cause huge legal complications .
The article also mentions implementing prevention methods once a person has knowledge of their genetic evaluation- but some genetic diseases cannot be prevented, wouldn’t this then just be knowledge of a ticking time bomb? What kind of effect does that have on a person?
It can be gathered from these assumptions that knowing the genetic diseases a person is prone to can have a negative effect, socially, mentally, and physically. So although, testing of the dead saves money and can make us aware of our own predetermined health, it would be more beneficial overall not to engage in such testing.