It takes a village, and guidelines

By Razib Khan | November 5, 2012 11:46 am

A week ago I posted on a rather scary case of medical doctors withholding information from a family because they felt that it was in the best interests of the family. I objected mostly because I don’t have a good feeling about this sort of paternalism. Laura Hercher has a follow up. She’s not offering just her opinion, but she actually made some calls to people who were involved in the case. From what I can gather in her post the issue that triggered this outrage (in my opinion, it’s an outrage) is that for these particular tests informed consent was simply not mandatory. Since they didn’t have the consent a priori, the doctors had to go with their judgement.

The reality here is that there isn’t a good solution. That’s because we’re not talking about science, we’re talking about values. The behavior of the medical doctors, withholding information which has serious life consequences, is still objectionable and unacceptable to me. But that’s me. I have a strong bias toward more information, and from all the social science data I’ve seen most people do too. And yet not everyone. Doctors are not mind readers, and they couldn’t consult the parents in this case, because that would be tipping them off that something was up. There are no optimal solutions in such cases, so naturally your values inform the outcome. The ultimate decision reinforces my perception that the medical community has a bias toward values paternalism, and reduces my trust in them.* I qualify with the term values, because we’re not talking about medicine as science (e.g., the danger of antibiotic resistant bacterial lineages), but medicine as an art which comports with what we think are the ends of the good life. There is legitimate specialist agreement on the former (science). Specialist agreement on the latter is much more dodgy. I won’t bend my knee to any priest.

Your life is in your own hands. I am convinced by the social science that one reason more educated patients live longer is that they are more engaged partners in the health care process. Therefore I have no hesitation in being a partisan, and being an unapologetic expositor for my values. Unfortunately these are matters which often shake out in a winner-take-all fashion. If you don’t make your voice heard, you may be forgotten. If I ding the reputation of the medical profession a bit by speaking too broadly, so be it. I have to deal with the consequences for my own health for the choices I make, and can make.

Finally, there’s the issue of children. This is a fraught topic for legitimate reasons. If you want to get your son circumcised in the United States, you can do it. If you want to get your 10 year old circumcised in the United States, and he doesn’t want to get circumcised, I suspect if you were persistent you could get someone to do that for you. In other words, there is a great deal of control that parents have over their children. The rights of minors are sharply demarcated, and society tends to give a great deal of latitude to parents in terms of what they can do to their children. But there are limits. If I wanted to get my daughter circumcised I would probably not only be unable to have a medical professional who would sign on to this, but the authorities might actually take her from me. That’s because as a society we’ve decided that male circumcision is not child abuse (even though it is very difficult to reverse this process on the physical body), while female circumcision is. The point isn’t about the consensus here, it is that society achieves certain understandings of the boundaries of parental control, and enforces those boundaries with force. This isn’t a science. You can disagree with the social consensus, but no matter what, it will impact you.

When it comes to what a child should know I tend to disagree with the consensus among genetic counselors. It seems that the implication from the current guidelines is that children shouldn’t be tested for adult onset disease until they can give consent. I can’t go along with this. I would caution, and probably try to dissuade, any friend who wanted their son circumcised as an infant. It’s a body part you can’t get back. But at the end of the day I believe that this is something parents should be allowed to decide without fiat outside interference (I am in favor of dropping insurance coverage for the practice, but not in favor of banning it). If so, then I certainly think that testing of children should be allowed, with at minimum a neutral take from the counseling industry. Parents are allowed to indoctrinate their children in all sorts of crazy ideas, and even put them through surgery. That doesn’t mean that it’s right for children to be subjected to information before they’re adults about possible genetic diseases. But, I do think parents should be allowed to indoctrinate their children, and even subject to them some surgeries (e.g., circumcision, but in the past parents have had their children lobotomized!), even if I disagree with them. If I have such a low threshold on social paternalism, then I think there’s no reason to be so cautious of genetic information. Yes, it could have lifetime consequences, but so does raising your children with crazy beliefs (you’ve met these people as adults, so you know what I mean). I have a clean conscience advocating for my info-maximalist position. If I don’t, then the game is already over before it began!

* Several doctors complained that I generalized here, but deal. I’ve had doctors my whole life (I had pretty bad asthma as a kid, so I saw lots of doctors as we moved from place to place), and the clear null assumption from most is that I’m a moron until I make it clear that I’m not going to take their word for everything. It’s probably good for doctors to assume their patients are not too bright, because many aren’t. But as a matter of course that probably feeds a bias toward paternalistic behavior. That’s not right or wrong, as much as it is. To a great extent I trust the institution of modern medicine and public health. But I don’t really trust any given doctor. They’re human, with all the biases that humans bring to the table.

CATEGORIZED UNDER: Personal Genomics
MORE ABOUT: Personal genomics

Comments (18)

  1. not going to post stuff on circumcision. i understand that i invited it by using that example, but i am closing that invitation by not posting any comments relating directly to it (rather than the topic at hand).

  2. Dm

    Very thought piece there, thnx. Multi-hour consenting sessions? Lifetime warranty of clinical actionability reports (what she describes as cascading liabilities)? Since your DNA never changes, but the interpretation changes over time…

  3. Michael Finfer, MD

    There are certain things that many people would consider to have life-changing implications. Should I, for example, tell my daughter about, and have her tested for, a BRCA mutation when she’s 14? Would that ruin her adolescence and give her something profound to worry about when there’s nothing to be done about it until she’s at least 25?

    I also object to paternalism, but there are some practical matters to worry about as well. There are often areas where there is room for debate.

    The current recommendation is for the kids to be told about the mutation at age 18 and for testing to take place at age 25-30, which is when breast cancer screening should begin in mutation carriers.

  4. Laura Wilk

    I really enjoy your blogs. My thought is more towards what an insurance company might do with the information and how that might limit my child from coverage later in life should the dementia set in. I would want the information as a parent. I don’t want a paternalistic person “protecting me” from information that they have decided I am not able to deal with.

  5. Karl Zimmerman

    I’ve been dealing with this with my wife regarding our daughter recently.

    I got my genome sequenced via 23andme. I was pleasantly surprised at my lack of major genetic health problems. I have a 25% increased risk of heart disease, but given I’ve been a vegan for sixteen years now (and a vegetarian for twenty) I presume if I continue my current practices, plus keep working out and don’t slide into obesity, it will at least cancel out the increased risk. Despite my family being peppered with lots of disease (type 2 diabetes, hypertension, Parkinson’s, Alzheimer’s, Multiple Sclerosis, some cancer, etc), I have normal or very low risks for all of these.

    I can’t get my wife to be interested in sequencing sadly. Oddly, she only wants to do it if she goes on a site like ancestry, which does not offer any information about disease likelihood, and only gives genealogical information. Which would mean our genomes would be on different sites. My in-laws don’t know why she’s so crazy opposed.

    She’s even more opposed to us getting our daughter sequenced. She has some strange irrational fear that health insurance companies will someday find the information and discriminate against her. I feel pretty strongly she should have this knowledge available to her, so we’re kind of at loggerheads. Hopefully she’ll lean towards my way of looking at things as an adult.

  6. jd

    @4: Not such an irrational fear. Some insurance companies are indeed raising rates, canceling policies or adding exclusions based on genetic tests.

  7. Dm

    Despite my family being peppered with lots of disease (type 2 diabetes, hypertension, Parkinson’s, Alzheimer’s, Multiple Sclerosis, some cancer, etc), I have normal or very low risks for all of these

    It’s not you as a person who got low genetic risks, it is a wide, heterogenous population of people sharing certain SNPs with you. Some people within this cohort actually have strong genetic predisposition to disease, but there are relatively few of them in the group.

    It’s as if someone told you that houses in your city are at low risk of robbery, and you’re, like, great, my neighbor’s have been broken into, but I shouldn’t worry, the stats tell me so. Only the data aren’t granular enough, they don’t break the risk down block by block. Sure, it means that your city has fewer bad neighborhoods; but what if you just live in one?

    She has some strange irrational fear
    Counseling is important. And while health insurance or job discrimination is illegal, a kid could still be legally denied school admission as we know from this blog, and life policy discrimination is legal too. Then there may be undisclosed family history stigma, and of course nonpaternity. It is just so wrong to call someone’s concerns “irrational” only because they can’t articulate the issues.

  8. There are certain things that many people would consider to have life-changing implications.

    vague. what % is many people? if you can’t give a good estimate, one wonders why we even generalize about the distribution.

    #6, you’re talking about life insurance, right?

    #7, well, if she can’t articulate her fears, one can still call it irrational. they may be right, but they are not based on rational calculations.

  9. Karl Zimmerman

    DM –

    I’m aware that as of yet I may have alleles which raise disease risk which I am not yet aware of. Still, the results paint a somewhat better picture than I was hoping for. I’ve been fairly suspicious that a lot of the weird neurological diseases in my family are due to some environmental contaminants, as people from both my mother’s and father’s side suffer from them, but only those which lived in their hometown, while relatives which lived in other places didn’t experience so many inexplicable symptoms and rare diagnoses.

  10. #9, you know your situation better than others, but let me caution that the SNP chips might be missing lots of variants. i have an autosomal dominant risk from my mother. this is pretty obvious from our pedigree. but the SNP results show me having normal odds ratio on this trait (same for my siblings). i would say that it might be a south asian thing, but some traits probably are even more narrowly prevalent in subethnic clusters.

  11. Dm

    Can’t edit pubmed links and it’s “awaiting moderation”, is everything OK with this system? Will try again in a minute…

  12. Dm

    #8 what % is many people? In the most recent studies (summarized in this table), the majority of healthy BRCA carriers opted for prophylactic oophorectomy. Comparable numbers chose prophylactic mastectomy (e.g. Beattie 2009). The outcomes are even more skewed towards drastic preventative choice in women for whom the 1st alarm already rang (already diagnosed with early-stage cancer, in situ carcinomas, or even benign cysts).

    Of course the outcomes are strongly affected by age and prior experience with cancer in family members (or selves), and the %age ought to be smaller in young females w/o prior knowledge about cancer-related suffering and death, so both you and #3 might “claim a win” here (yes, the notion that “many people would consider to have life-changing implications” is true and supported by multiple studies, but of course the studies do not specifically address choices made by the underage cusomers of 23andMe as they mature).

    if she can’t articulate her fears, one can still call it irrational. they may be right, but they are not based on rational calculation
    Hmm let me try once again. I’m trying to say that she may have calculated the risks to herself, and to the well-being of the family, perfectly rationally, but couldn’t articulate her point of view without being conforntational / jeopardizing family peace. We all deserve a little private space in family relations. Not every closed lid needs to be pried open. Sometimes a guy can’t rationally explains why he wants to spend his time or money or affection this or that way, but you don’t call it irational. You’d suspect that he’s trying to avoid explaining away every minute details of his motivation and his train of thought, lest the lid blows off. Call it sneaky / protective / conflict-avoidance. But if a woman won’t explain every detail of her reasoning, then she’s just irrational. Yeah right.

  13. #12, well, i suppose we should leave discussions of the details of dynamics in the zimmerman household alone. in contrast, my wife still asks now and then when affordable prenatal fetal whole genome will become affordable. since i got invited to that event at ashg as a press pass i’ll have more to tell her after this week….

  14. Easy solution: Give the parents ANOTHER “a priori” swing at the bat. The doctors can simply tell the parents this: “Some of our tests offer more information than we are specifically looking for, would you like to know these extra results?

    This test is a broad spectrum test and has the ability to diagnose all sorts of genetic conditions, even ones that might be unrelated to the current issue at hand. What would you like us to do with the additional information garnered from this test? Would you like to know the results? Here is a list of all the possible conditions your child will be tested for. Some of these do not have a treatment or a cure, others do. Some are serious, others benign. What information would you like to know?”


  15. Dm

    #13 Your rules ask the commenters to stay on topic (even when the blog owner chooses to stray away from it ;))

    So I assume that we may shelve any talk about Halachaic take on hereditary genetic risks in women in general, and risk-reducing surgeries in particular. But if you would like to have this discussion of the tradional religious law in the context of today’s medical genetics, then please let me know.

    Back to the topic. Are you satisfied with the publications proving that drastic prevention strategies are commonplace in BRCA mutation carriers? I got a few more papers, if you’re still not convinced. And more importantly, I went to Be Bright Pink, the national advocacy group for young women with BRCA mutations, and noticed that their page on risk-reducing surgeries begins from a member testimony about how common these surgeries are. So yes, even in this specific world of young women with their specific concerns, the perception that surgeries may be a “when” rather than “if” doesn’t really change.

  16. Justin Giancola

    12. great response!

  17. Charles Nydorf

    I find Hercher’s calm acceptance that some people don’t “have the means, whether financial or personal, to turn prediction into prevention” rather chilling. Rather than this being a reason why people should not be informed, it should be a reason why society (we) should help provide them with these means.

  18. biologist

    Didn’t see this in the article or any comments: what test precisely was ordered in the CHOP case? It was the responsibility of the doctor to specify what they wanted tested and the responsibility of the lab to only return what they wanted. Who made the mistake here?

    That said, once the pathogenic results were *reported*, they have an obligation to inform the patient/parents. That patient can request their medical record at any time — under HIPAA — which would contain the full test result.

    Even if my doctor accidentally runs a test on me, they have an obligation to return the results if they could affect medical outcomes (including reproductive choices).


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About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at


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