How Much Should Doctors Tell You About Your Medical Future?

The case of an infant with a rare genetic condition raises an interesting ethical dilemma.

An article in Time poses an interesting question regarding medical ethics:

The test results were crystal clear, and still the doctors didn’t know what to do. A sick baby whose genome was analyzed at the Children’s Hospital of Philadelphia turned out to possess a genetic mutation that indicated dementia would likely take root around age 40. But that lab result was completely unrelated to the reason the baby’s DNA was being tested, leaving the doctors to debate: Should they share the bad news?

When it comes to scanning DNA or sequencing the genome — reading the entire genetic code — what to do with unanticipated results is one of the thorniest issues confronting the medical community. Many conflicted discussions followed the dementia discovery at the Children’s Hospital of Philadelphia (CHOP) before a decision was reached: the parents would not be told that this fatal memory-sapping disease likely lurks in their child’s future. Given the hopelessness of the situation, with no treatment and no cure, the doctors said forwarding such information along felt pointless. “We came around to the realization that we could not divulge that information,” says Nancy Spinner, who directs the hospital laboratory that tested the infant. “One of the basic principles of medicine is to do no harm.”

Around the same time, Spinner’s lab also tested another child — an unusually short 2-year-old referred for kidney disease — and discovered the toddler had a gene linked to a rare form of colon cancer. In some cases, polyps arising from this kind of cancer have been known to develop as early as age 7. This time, the decision to inform the parents was easier: “We feel good about that one,” says Spinner. “Proper screening can make a huge difference.”

So there you have it. Two separate cases, two separate choices made by the doctors involved. In one case, you have an infant who has a genetic predisposition to essentially becoming a victim of something similar to Alzheimer’s Disease at a very young age, an age at which most men would likely be entering the height of their career and be raising a family. There is currently no known cure for this condition and the treatments for those who are afflicted are essentially palliative in nature. In the second case, you have a child with a genetic predisposition to cancer at a very young age. In this case, treatment would be possible if polyps were detected early enough. In one case, the doctors chose not to inform the parents of child’s condition on the premise that they wanted to make sure to “do no harm,” in the other case they did inform the parents. What that means is that, at some point in his adult life, before he even hits middle age, it’s quite likely that the first child will start to experience a cognitive breakdown that will make it impossible to function on his own. He’ll be unable to work. If he has a family, they’ll become strangers to him and they’ll have to deal with the stress that having a relative with dementia brings to someone’s life. And, unless he’s been tested at some other point in his life, he won’t know to consult doctors about any treatments that may develop between now and the 2050’s, treatments that may not be effective once he’s actually afflicted with dementia.

How, exactly, is withholding this information from this child’s parents the right thing for the doctors to do?

Eugene Volokh is skeptical of their decision:

I’m pretty skeptical about that result. To be sure, knowing that one will likely get dementia at age 40 would be pretty awful. But think of all the things we do with an eye towards our middle age and later years. We might get lots of education, planning on having an academic career that begins at 35. We might put off having children under our late 30s. We might save in a particular way, expecting to work until our mid-60s and then have a retirement in which we might want to spend money on an enjoyable lifestyle.

I know that I’ve organized my life in some measure around having (likely having, one can never be certain) a normal span of cognitively unimpaired working years, followed by a normal span of time after a normal working career. If you had told me that I would be dead at 40, I might have planned things differently. (I might have had kids earlier, if I could find a woman who was willing to have them with me, or not had them at all.) Likewise, I suspect, if you had told me that I would likely get dementia at 40. Yes, I’d have been very unhappy at first, and perhaps throughout; but I suspect I would have avoided certain investments of time and effort, and other plans, that would have proven useless.

Now maybe that’s not so; maybe knowing such things would have been all cost and no benefit, or at least so lopsidedly cost that I would rather have not known. I can’t be sure, of course, never having had to face this. But I don’t think that one can simply say that “forwarding such information” to me — whether directly or through my parents — would have been “pointless.”

Conor Friedersdorf is more sympathetic to the doctor’s decision:

If at 40, a man was certain to develop a painful, contagious disease, the doctors would surely tell him, if only to benefit others. Our moral intuition would be that he has a responsibility to bear the burden of the knowledge, and to prevent others from being infected with his germs. Yet I don’t feel the doctors acted irresponsibly by not telling their future dementia patient about the condition, even though others will very likely suffer pain because of it. Even if I knew others would suffer pain as a result of the patient’s ignorance, I wouldn’t feel the same as if it were a painful contagion.

That argument makes little sense to me. As Conor notes earlier in the  post, it’s quite apparent that the fact that this child is likely to develop dementia at a very young age would have a rather obvious impact on a whole host of other people ranging from immediate family and friends to a future spouse and children. What is the value in keeping the patient, and them, in ignorance? Wouldn’t it be better for this person to know what he is likely to be facing in his life so he can plan that life accordingly? I’m not suggesting that a doctor, or a parent, should tell a young child about something that isn’t going to happen until they are much older, but at some point in their life that child will be old enough to process that information and act accordingly. Withholding the information doesn’t seem to me to do any good at all other than save the doctors from having a painful conversation with the parents of a newborn about what his future likely holds for him.

So, I’ll throw it out there. If you were this child’s parents, would you want to know this? Were the doctors right to withhold the information?

FILED UNDER: General
Doug Mataconis
About Doug Mataconis
Doug holds a B.A. in Political Science from Rutgers University and J.D. from George Mason University School of Law. He joined the staff of OTB in May 2010 and contributed a staggering 16,483 posts before his retirement in January 2020.

Comments

  1. We might put off having children under our late 30s.

    If you have a genetic disorder that causes you to get dementia at age 40, why would you have children at all? If you want a family, adopt, but do humanity a favor by not spreading that gene around more.

  2. Dave Schuler says:

    I suppose it would be indelicate of me to observe that the case in which they informed the parents was that one in which interventions might actually do some good. A partial motivation of the decision might have been prospecting.

  3. rudderpedals says:

    If the parents are told there’s a much greater likelihood the kid would be forever marked with a devastating medical condition and find himself unable to get reasonable life insurance for his young family or even health insurance (depending on who wins the election) for himself. What’s the value of 40 normal-ish years?

  4. @Dave Schuler:

    Not an unfair point, but as I hinted at in the post, what if we develop treatments for dementia in the next 40 years that this person could take advantage of were they aware that they were pre-disposed to develop the condition at an early age?

    This is an issue that is going to come up more and more as we continue to unlock the genetic roots of diseases and conditions. As a general rule, I’d like to think that more information should be the default rule.

  5. swbarnes2 says:

    A sick baby whose genome was analyzed at the Children’s Hospital of Philadelphia turned out to possess a genetic mutation that indicated dementia would likely take root around age 40.

    First rule of media…don’t take them at their word when they talk about science, they rarely know what the hell they are talking about.

    I guess for privacy reasons, the paper can’t say what the variant is, so we can’t know much functional data supports that variant being sufficient to cause early dementia, but in general, if all someone has is a OMIM entry that associates that gene, or even that variant, with a deleterious phenotype, it’s stupid to act like that bad prognosis is a sure thing.

  6. Tsar Nicholas says:

    Last I checked doctors have fiduciary duties to their patients, which include the duty to disclose all info that relates to their patients’ conditions. Patients most certainly are not on “need to know” bases with their docs. Quite the contrary. And talk about a slippery slope. I don’t see how it’s even debatable that the docs should have disclosed the predisposition to dementia. Of course they should have. And, yes, let’s not be naive: it’s not a “coincidence” they disclosed the condition for which there are plenty of treatments (and ergo plenty of fees) but didn’t disclose the condition for which there are not any treatments (and thus no fees).

  7. CSK says:

    I’d want to know it, and I’d want the child to know it, when, as you say, he or she was old enough to process the information. I’d also want to know what the chances were of the child passing on the gene to his or her offspring. It would be awful, but at least the child’s life could be mapped out realistically. Plans could be made for his or her eventual care: a trust fund could be set up, for one thing. I’m fully aware that this would be a crushing emotional burden, but it would be better to prepare even for that than face the totally unexpected horror of having your kid become a vegetable at age forty, particularly if he or she has kids, too.

    And you have to take into account the possibility of early medical intervention, should some kind of treatment become available. There are drugs now that apparently slow the onset of Alzheimer’s, or alleviate some of the worst symptoms. Dementia, in some instances, is more problematic to treat, but that may not be the case ten or twenty years from now. So if you were forearmed with the knowledge, you’d be able to seek that treatment, whether it was an outright cure or a control.

  8. Dave Schuler says:

    I’ve contacted a friend whose is by profession a medical ethicist to get her take on these stories, at least as hypotheticals. I’ll report back if she allows.

    It seems to me that the ethical positions ought to be either full disclosure or disclosure only of the information desired regardless of whatever else is found. My question is who the heck are they to be deciding who should be told and what they should be told?

    I do have a question, however. Whose property is the information?

  9. Tillman says:

    They should’ve told the parents. The parents could make the decision whether or not to tell the kid.

    They should’ve at least dropped some sort of hint. Maybe one of them wagered that gene sequencing would get really cheap and teenagers of the future get themselves sequenced on a lark. Not telling anyone involved with the kid’s life, though, that’s horrific.

  10. michael reynolds says:

    There are a whole host of profound moral and ethical issues that will arise from the fact that homo sapiens is taking over management of his own evolution. This isn’t one. The doctors have no right to withhold the information.

    Let’s pretend for the moment that the parents are smart, capable folks. Given the threat to their child, might they not have formed a charity, solicited funds, aided research into this condition and found a cure in 40 years’ time?

    It was an arrogant and wrong decision. It was an anti-scientific decision, and a foolishly pessimistic one. I would personally punch the son-of-a-bitch who witheld this from me. And then I’d sue him and his hospital. Sanctimonious little tin gods.

  11. @michael reynolds:

    We agree! Miracles can happen.

  12. Steve Verdon says:

    @michael reynolds:

    Approaching it a bit differently, in economics have more information is usually better. It boils down to being able to plan better and better allocate resources. I’d want to know, if no other reasons so I could make the best plans possible.

  13. michael reynolds says:

    @Doug Mataconis:

    Quick! Is there a blue moon?

  14. Steve Verdon says:

    @Dave Schuler:

    Whose property is the information?

    Interesting question….I’m gonna go with the child is the owner, and as custodians the parents would have considerable rights to that information too.

    My thinking is that it is like have vast amounts of data, but you need a program to access and analyze it. So you go buy said program. While you don’t own the program, the company that sold it to you has no control over your data, the analysis, or what you do with it.

  15. ernieyeball says:

    Sometime in the mid 50’s, a few years before my 10th birthday, my mother, not yet 40, was committed to the local State Hospital at the request of my father. She had been recently subject to fits of rage and violence. Her first and middle names were Biblical and she truly believed that the scripture was referring personally to her. She knew this because she actually heard God’s voice tell her so.
    Today many people would recognize these symptoms of paranoid schizophrenia.
    Sixty years ago the family doctor didn’t have much of a clue what was going on.
    Fortunately my mother and our family survived the electroshock therapy and institutionalization that was apparently state of the art treatment at the time.
    The value of the antipsychotic drugs that were developed over time that provided for the successful management of this vile disease is impossible to measure.
    If our family had known via some sort of predictive DNA test what to expect and how to control this curse we might have gotten ahead of the game and would have been spared a lot of trauma.
    This may not be an exact paralell to the subject of this post but I fail to see how concealing information from patients and their families is a good idea.

  16. swbarnes2 says:

    The only argument I can see (and I think it’s a very crappy one) is that with a diagnosis like this, and no evidence-based medical treatment available at this time, the parents might be tempted to subject their kid to all sorts of woo, which will be at best useless, at worst, harmful.

    By not telling the parents, they may prevent the parents stupidly doing harm. But I doubt that stacks up well to the negative impact of not telling the kid, if he does indeed grow up into the predicted dementia.

  17. steve says:

    ” A partial motivation of the decision might have been prospecting.”

    Geneticists and genetics labs would not be making money off of future procedures. Of course, they could just not monitor the kid and let the cancers occur to avoid the appearance of any economic conflict.

    Steve

  18. Franklin says:

    There are situations in which too much information is less helpful. This is not one of them.

    However, I can still imagine situations where a doctor doesn’t need to tell the patient directly of their condition; specifically when the patient is unable to psychologically handle it. But in those cases, family members should be told.

  19. Andy says:

    My doctor is not my Daddy and my child’s doctor is not my child’s Daddy. IMO, doctors have no right to declare themselves the paternal arbiters of what is or isn’t good for me to know. As a parent, I get to decide, and the burden of receiving unwelcome test results and dealing with the consequences is mine to bear. That comes with the job of parenting. God help any doctor who chooses to hide medical information about my child from me in the mistaken belief he/she is doing me a favor or thinks that my big boy pants aren’t quite big enough to handle it.

  20. LCaution says:

    ditto Michael Reynolds.
    I’m appalled. The parents have a right to know – and so does the child when she/he is old enough.

    How is this different from learning one has inherited Huntington’s?

    We do, however, need to have national health and life insurance regulations which do not discriminate on the basis of genetic data.

  21. Drew says:

    I’m surprised at the decision and and shocked that it took more than a nanosecond for the medical team to arrive at the conclusion: relay the information. Many points have been made here that are needlessly analytical. You are owed, or your guardian is owed, the results of medical evaluation. Period. Doctors get to choose.

    Huntingtons has a similar bleak profile, and yet it is divulged or tested for routinely, at patient discretion. No one withholds the result.

    This was awful.

  22. Mercy says:

    When i had my first born daughter. The doctors told me she had medical condition that would affect her adulthood unless you seek medical help when she turns 12. In my case i was happy in a way that the doctor made me aware of the future of my daughter and when she reached 12 the problem was solved and now i have happy healthy 20 year day girl.

    In some cases like cancer I feel like if the doctor keeps repeating tell you about how short your future might look like. It is scarely for the patient and may how much information the doctor gives to the patient has to be thought twice before saying it.

  23. Janis Gore says:

    Oh, no.

    Just where are those doctors, again?

  24. Drew says:

    I just realized a typo……doctors do not get to choose. It’s YOUR medical information, by definition. The doctor is simply the informer.

  25. ernieyeball says:

    @Drew: From the context I figured that’s what you meant.
    Maybe someday there will be a working edit function at this otherwise excellent site.

  26. Richard says:

    I’m surprised no one has mentioned the obvious. They were testing for unrelated genes and incidentally made the discovery. Guidelines are different regarding incidental findings such as this, and undoubtedly made it through an ethics board review. Disclosure would have opened the door to lawsuits. This does bring up a valid question of why they obtained testing for that gene in the first place though.