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.