Serious questions arise when these kinds of issues are raised - can the genetic information be truly definitive (in Nicholas' case, it was serendipitous that his DNA showed an abnormality); will genetic sequencing actually inform therapeutic decisions; will it change the course of a patient's disease? This recurring issue in medical ethics - the troubling intersection of what can be done with what should be done - is especially vexing when the psychological risks of too much information are so challenging to measure. What is known is impossible not to know . . .
The NPR piece speaks about relying on parents' consent to obtain detailed and potentially troubling information on behalf of a child - fueled by the dire need to get any and all diagnostic information to help their seriously ill child survive. But the Pediatrics article and survey reveal a far more troubling concern about relying on parental consent to obtain genetic information - information obtained on behalf of a child about the genetic likelihood of developing adult-onset diseases. Perhaps that is too much information for parents to have about their children? Perhaps this is too much information for children to know too soon? Is there such a thing as too much information?
Children's Hospital in Wisconsin has created a Committee that screens parents' requests for the diagnostic use of genetic sequencing. Not only does the request need to be presented by two physicians but the diagnostic information must be "actionable" - providing a therapeutic option. But the "science" of this genetic testing technology - what can be done and under what circumstances - must be tempered by the "ethics" of this technology - what should be done and what is really promoting the patient's, the family's and the wider community's "good"? (One caller, a Dana Farber research nurse, spoke of her concerns about equity and access to such testing when studies show minorities and the vulnerable are less likely to have access to such "high tech" sources of information.)
These are hard questions. I am glad Nicholas is doing better; I am worried that there may be other children for whom genetic sequencing will not provide the possibility of a real therapeutic option and yet highly-charged and sensitive information will be known, forever not to be unknown.