The answer to this question depends on whether the child displays the presence of actual symptoms.
Dear Doctor,
Thank you for contacting the Carver Lab with your inquiry, however, the Carver Lab has a policy that states we do not perform genetic screening on asymptomatic minors.
I completely understand the parents’ concern for their child and their interest in knowing whether they might be affected with the same condition that (Mom or Dad) has. Of course, I always recommend that it is best to examine children clinically before considering a molecular test. If there is some clear evidence of a retinal problem on examination, I think that it would be reasonable to go ahead and confirm the diagnosis molecularly. However, when a minor child has absolutely no clinical evidence of disease and when there is no medical treatment that is known to delay or prevent the onset of the disease (as is the case for the condition diagnosed in the parent) we generally avoid molecular testing until they are 18 years of age. At that time, a young adult can choose whether he or she wants to know their molecular diagnosis. Also at that time the molecular diagnosis will be a bit more relevant (they will be closer to child bearing age) and they will be in a better position to understand it.
If between now and age 18 your patient were to develop clinical signs of disease OR if some type of medical treatment became available for this particular condition, this would make it more reasonable to go ahead and test the child even if (he or she) is a minor.
In summary, most geneticists would recommend not testing asymptomatic minors for the presence of a potentially-disease-causing genetic variation and this is the policy we follow in the Carver Lab.
Regards,
EdEdwin Stone, MD, PhD
The John and Marcia Carver Nonprofit Genetic Testing Laboratory
www.carverlab.org
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