It seems like that would better to do that [genetic carrier testing] earlier, you know even before, just so that it was always. …. It’s like if you’re like adopted. It seems like it would be better to know you’re adopted your whole life than to just have a day when you’re 13 and your parents sit you down and tell you you’re adopted. That would be terrible. – Teenage Fragile X Carrier, quoted in a study of fragile X carriers
A sacred and often unchallenged ethical belief in the medical genetics community is that carrier testing should be limited to adults, except in diseases like familial adenomatous polyposis where the results have implications for the medical care of young children. It is easy to take the moral high ground here – we should respect the autonomy of young people until they are mature enough to make their own decisions as adults. End of story.
Implicit in this belief are the assumptions that teens are not mature enough to make major life decisions, and more subtly, that health professionals know better than parents what is in the best interests of their children.
Allyn McConkie-Rosell and her co-authors, in a recent issue of the American Journal of Medical Genetics, challenge this belief with a very interesting quantitative and qualitative study of fragile X carrier testing among at-risk teenage girls. The vast majority (51/53) of these girls felt that carrier testing should not be delayed until 18 years of age if the child and family want testing. In reading the comments of these young girls, it is quite clear that teenage minds are capable of thoughtful deliberation about emotionally and medically complicated matters. The belief that teens are incapable of mature thought and philosophical complexity is at best unproven and at worst could lead to long term psychological issues among teens denied testing.
Of course, parents or guardians should have an active role in initiating such requests. They understand their children far better than we ever will. If genetic counselors cut off parents’ requests for testing their children with “Sorry, we will not do it because it is ethically unjustifiable and against clinic policy” it will only result in angry and frustrated families. Not a very good counseling experience, to say the least. The history of professional advice to parents makes it clear that parents rather than professionals are usually more likely to make better parenting decisions.
Sometime, though, parents will want their children tested for the wrong reasons, such as a misperception that the test results will affect medical care of their teen, or, more commonly in my experience, driven by their own guilt and anxiety about possibly having “given” a mutated gene to their children. These situations call for genetic counselors’ best educational and counseling skills to help parents clarify what is driving their requests to ensure that genetic testing is in the best interests of the parents, their children, and their families. And parent and child should both agree on whether or not to be tested.
This is an area that is begging for more research, in the form of case studies and larger investigations. One particularly fruitful group to study prospectively would be fetuses and newborns whose carrier status is incidentally identified during prenatal diagnosis (e.g., a fetus tested for Tay-Sachs that proves to be a carrier) or newborn screening (e.g., cystic fibrosis heterozygotes detected during testing for homozygotes).
In my view, genetic testing should be available to teenagers who desire it, after genetic counseling of children and parents. No doubt some of you will strongly disagree with me. I am interested in hearing your counter-arguments and thoughts. My favorite people, those who I find most intriguing and rewarding, are those who can make me change my mind.
6 responses to “The Kids Are Alright: Re-thinking Genetic Testing of Children”
I agree that some teenagers are capable of deciding for themselves and should have the option of seeking testing if they desire; after all they are capable of conceiving a child. However, I fully support not testing children for adult onset conditions or carrier status in every situation and understand why the age of 18 was chosen. This is a good rule of thumb but must have the availability of exceptions.
Teenagers desire many things that are not good for them. So testing them because they “desire it” really isn’t a good reason. Children are also highly influenced by their parents and can be easily coerced by them into a certain course of action.
With the current state of teenage pregnancy, drug use, school drop out rates, deaths do to reckless and drunk teenage driving, teen suicide, parents that are absent from even raising their children, etc. I wouldn’t assume that all parents have the skill to know what is best for their children (of course we all think we do).
Is it appropriate to test a 13 year old for Huntington’s disease? Are they mature and intelligent enough to handle a positive test result? I would doubt it. However I would love to hear input from child psychologists.
If a teenager can state logical reasons why they want to be tested, free of coercion, then testing them should be considered.
The outcomes of testing minors for adult onset inherited conditions is in desperate need of study. As with all aspects of medicine, this decision should be individual and based on research and not opinion. This has been an opinion.
You raise an interesting point about what people will share with their children as a result of “incidental” carrier screening from prenatal diagnosis or other testing. Recently the NCAA and the National Trainers Association recommended testing all young athletes for sickle cell trait after the tragic sudden deaths during strenuous workouts of individuals with trait.
This new recommendation was highlighted by several news organizations,including the Washington Post and USA Today. Because of newborn screening, theoretically this is information parents should already have. One coach interviewed for the article indicated that he had been pushing sickle cell trait screening for some time, and of the 19 athletes he has found positive, only 2 were aware of their status. When the players talked to their parents, however, most of the parents already knew. They didn’t know it was important to tell their children. I think this highlights several things we already know but are important to be reminded of: being a “carrier” of a recessive disorder isn’t always benign, and people value and share genetic information differently, especially within families. Great food for thought, Bob, thanks!
interesting discussion Bob, as always. this has actually been on my mind a lot lately. as a cardiovascular genetic counselor i frequently test children for conditions that might affect them in childhood, but might not. this has got me questioning our field’s dogma on not testing minors for predispositions. i think your suggestion of studying carriers identified through newborn screening is wise. we could learn a lot. i have been day-dreaming of another population we could learn from, one that i work with regularly. in hypertrophic cardiomyopathy we test children because, much like FAP, screening starts around 12 years of age so knowing which children did and did not inherit the predisposition helps determine who does and does not need screening. however, unlike FAP, HCM has markedly reduced and age-dependant penetrance. many mutation carriers won’t develop cardiomyopathy during childhood or adolescence and some will never deveop it. so here’s a population where we do predictive genetic testing at a young age and many will remain as at-risk asymptomatic carriers into adulthood. i think we could learn a lot from them, much like the carriers identified through newborn screening. any eager masters students looking for a good thesis project – please, take this question on!
Great post, Bob.
Colleen- I also work in a clinic that does a lot of genetic testing for cardiomyopathies (specifically HCM) and this immediately came to mind when reading Bob’s post. I agree that looking at the effects of predicitive testing for HCM in teens would provide really valuable insight into this issue.
Nice post, definitely thought provoking. Besides the reasons already stated, I think cultural differences have a lot to do with testing minors as well. In certain cultures (Asian, Middle Eastern) it is definitely believed that parents know what is best for their children and in cases such as this, this would be something that is worth exploring. I remember discussing this with a physician who I will not name for obvious reasons, but he firmly believed that every parent has the right to make decisions about testing their children for predisposition syndromes. His line of thought being, parents know what is best for their children, parents can make decisions about their lifestyles, financial decisions for the future based on this information….Not that I agree with everything he said, but just food for thought.
Being from a different culture, I can perhaps understand this point of view and to some extent I do agree with it….