By: David Shifrin, PhD
Science Writer, Filament Life Science Communications

The American Society of Human Genetics has just released a new position statement about genetic testing of minors. The statement, titled “Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents,” was published at the beginning of July in the American Journal of Human Genetics. It was written as a 20-year follow-up to another paper with the same title, published jointly by ASHG and American College of Medical Genetics.

Just prior to the 1995 ASHG/ACMG position paper, another manuscript took an (relatively) early look at the issues surrounding genetic testing in minors in 1994. “Genetic Testing for Children and Adolescents: Who Decides?” dealt with the prospect of a future with significant adoption of genetic testing. (Incidentally, the “First AHA Statement on Tobacco and Children” was published in the same issue.)

After a discussion of autonomy and the ethical and legal issues surrounding medical care in minors, the authors presented four key suggestions. These revolved around the need to ensure that actionable results would result from any testing, and for providing medically relevant information about reproductive choices. Little has changed in the intervening years with regards to the fundamental principles.

Much of the recent previous commentary on the subject came in early 2013. At that time the American Academy of Pediatrics, in association with the ACMG, issued guidance on genetic testing during childhood. The groups recommended genetic screening for all newborns, and testing in children should be determined based on the individual’s best interest. As with other contexts for genetic testing, 2013 guidance focused on providing as much information as possible through genetic counseling to promote informed decision-making.

Genetic testing has many implications beyond just the medical findings. Increased anxiety (or worse) due to knowledge of specific risk factors, worries due to variants of unknown significance, and concern on the part of family members who could also be carriers are just a few of the issues that must be managed. These are only exacerbated in children, with additional complexity due to the parent-child relationship. Each of the papers cited above deal with these issues, demonstrating their complexity and constant evolution over the past 20 years and more. The challenge is summarized nicely in the 2015 position statement: “At the present time, the contrast between our ability to identify genetic variants and our ability to fully interpret the information gives rise to many of the ethical issues in this domain.”

Overall, the discussion of challenges surrounding genetic testing in minors leads to a number of recommendations from ASHG. The short version is that if there isn’t an immediate medical need, it’s best to defer testing until adulthood. More specifically, parents should hold off on testing until adulthood to allow their children to be more involved in the decision, unless there is a “clinical intervention appropriate in childhood.” Additionally, adolescents who may wish to be tested should be encouraged to wait due to the potential impact of the knowledge of results during “formative life stages.”

In other cases, though, ASHG indicates that testing is appropriate. For example, while knowing about a particular genetic variant could cause unnecessary stress (a point in favor of deferring testing), some people might find not knowing worse. Therefore, testing is reasonable after careful discussion and joint deliberation.

The position statement also highlights the significant need for better research on the psychosocial affect that genetic testing (or not testing) has on individuals. This, again, has been a common theme throughout the past two decades, as researchers and clinicians have struggled to understand the impact of genetic testing on patients and families. While some work has been done, the field remains thin and “empirical research […] is necessary for future policy recommendations.”

Another issue raised is whole genome sequencing. The statement recommended that single gene or whole genome testing with targeted analysis be used as much as possible, limiting whole genome analysis to situations where other options failed to reveal a relevant variant. The availability of whole genome sequencing also opens up the issue of secondary findings. Not surprisingly, ASHG recommends these be disclosed only when medically actionable.

There are several other situations covered in the position statement, of which we will highlight just one more here. In the case of adopted children, ASHG recommends that the same guidelines be followed as for biological children. While this may seem obvious, it provides protection to prospective adoptees. If adoptive parents are provided with genetic testing results that reveal a medical condition, the child may suffer and not be placed. On the other hand, it is possible that providing that information will allow children to be placed with families prepared to handle whatever condition they may have. Ultimately, though, ASHG comes down on the side of equal application of testing, saying that “children awaiting adoption and adopted children be given the same consideration in genetic testing as children living with their biological parents.”

Ultimately, the position statement reaffirms much of ASHG’s previous recommendations, while updating the discussion for recent advances in the field. It provides a useful outline for genetic counselors and medical professionals in managing the incredibly sensitive issues surrounding the care of children.