With the advent of next generation sequencing and genomics, newborn genetic testing and screening has the potential to be turned on its head – Rather than screen for particular diseases, as we currently do, it is now possible to decode a child’s entire genome with no greater risk to the baby than the heel stick most parents are familiar with.
This is a major scientific achievement, with huge implications in research and clinical care. What this is not, however, is a crystal ball. And deployment has significant ethical implications, particularly in otherwise healthy individuals or in large-scale screening programs such as Newborn Screening.The federal government, through the NIH’s National Human Genome Research Institute, started the Ethical, Legal and Social Implications (ELSI) research program to help inform integration of these significant scientific, and my research contributes to the efforts of the ELSI program.
A 5-page policy statement of updated guidelines on the use of genetic testing and screening in children and newborns came from the American Academy of Pediatrics and American College of Medical Genetics and Genomics. A fuller 12-page discussion of the ethical considerations behind the statement appears in the journal Genetics in Medicine.
This policy statement was a welcome update to the leading institutions’ positions on the use of genetic testing in newborns and children, and it was grounded in months of debate among leading providers.
Among other items, the AAP and ACMG reaffirmed their position that parents should share results with children “at an appropriate age” and that health care providers should take reasonable steps to include education of parents about heritable disorders. The AAP and ACMG further reaffirmed that when genetic testing a child, assent should be obtained from the child, when possible. They also explicity advised against “predictive genetic” testing in children, unless the child is at risk for an early onset condition, and urged against such testing for adult onset conditions, unless the child is at risk for such a condition for which a proven intervention started during childhood can “reduce morbitiy or mortality”.
This is a much needed policy. The statement also addresses issues such as misattributed paternity, genetic testing in adopted children, donor fertility, and other familial situations, all with often complex ethical, legal, and social considerations.
Notably absent from this report, and others like it, is a firm position on the technologies referenced at the beginning of this post. I am a little disappointed that WGS/WES is not tackled head on.
Like it or not, testing with whole-genome and whole-exome sequencing (WGS and WES) is here. Professional medical organizations, like the AAP and the American Society of Human Genetics need to confront this.
These recommendations are all about genetic testing, which to some extent implies testing one gene or a few genes at a time. With the growing availability of WGS/WES, the potential for discovery of incidental findings is huge.
How to handle these incidentals in the context of adults is complicated enough. It’s really complicated in pediatrics and minors. For one thing, the kid’s right not to know can’t really be taken into consideration if the parent makes the decision now for their child.
Here at Mayo Clinic we have committed ourselves to doing the science and building the infrastructure needed to apply these technologies in patient care. But we also have committed ourselves to doing so responsibly.
-- Jennifer McCormick, Ph.D., Bioethics Program director