The genetic testing of minors has been a challenge for genetics professionals since the first genetic test became available. What makes genetic testing of minors special, requiring rules, regulations, and recommendations? Invitae recently discussed this question with Dr. Jeffrey Botkin, a professor of Pediatrics and Bioethics at the University of Utah and the lead author on recent recommendations for the genetic testing of minors.
In the mid 1990s, as genetic testing technology exploded, protocols were established to ensure that minors were not tested for late-onset disorders, namely, Huntington disease and BRCA1 and BRCA2. In 1995, American Society of Human Genetics (ASHG) and the American College of Medical Genetics and Genomics (ACMG) published points to consider on the topic. Now, as we are immersed in the next generation sequencing era, ASHG has published an updated version of these recommendations. Shortly after the recommendations were released, Dr. Botkin spoke with Invitae about the importance of the issue of genetic testing of minors and how it has grown with the recent technological explosion.
Dr. Botkin says that making recommendations on the timing, effectiveness, and understanding of a genetic test for a minor opens an important dialogue between parents, patients, and providers. He gives the example of testing a child for cystic fibrosis. If the child has symptoms and treatment options would change with a positive genetic result, then the test is clearly indicated and there are no particular ethical issues. Yet if the child has developmental delay and an exome is ordered rather than a specific test such as Fragile X, it’s common for a variant to be found—but the clinical significance of or specific treatment for that variant may not be known. This, Dr. Botkin says, can often lead to more questions than answers. Is the variant thought to cause disease? Is there specific treatment for the child that would not be considered without the knowledge of the variant?
Dr. Botkin says that, in his mind, the most important difference between the original ASHG statement and the updated one is how it addresses whether variants should be routinely examined when exome or genome sequencing is performed.
“The current statement says that it is okay not to look for a list of genetic variants, including BRCA 1 and 2,” he says. Targeted testing, he continues, is more appropriate for the testing of minors. Even if whole exome sequencing is cheaper, testing should be targeted to be most effective.
But who serves as the gatekeeper, ensuring that genetic testing of minors is targeted? Since the mid 1990s, laboratories have often taken on that role. The current statement does not address this issue, but labs have taken on this role for the last 20 years and, Dr. Botkin says, it is his opinion that they should continue to play a role.
Similarly, Dr. Botkin says that although “genetic exceptionalism”—the belief that genetic information must be treated differently from other types of medical information—has long been debated, he feels that the consent process for genetic testing is effective. Just as you would be asked to sign a consent form for a higher risk procedure such as a spinal tap, he explains, we ask patients and families to sign consents for genetic testing. This is an effective way to create a dialogue with the genetic counselor to review the issues.
“We are trying to balance individuals having accurate information regarding genetic testing without adhering to genetic exceptionalism,” he says.
Overall, Dr. Botkin says that the current statement is more reflective and flexible than the previous one.
“We are privileged to work in a vibrant, rapidly growing, evolving genetics world, challenging us to weigh the risks and benefits of genetic testing for all of us—including our children,” he says.