ASHG updates position statement on pediatric genetic testing
The American Society of Human Genetics issued a position statement on the legal, ethical and psychological effects of genetic testing in children and adolescents for the first time since 1995, according to a report in The American Journal of Human Genetics.
“The ethical, legal, and social issues in genetic and genomic testing have been subject to special scrutiny for several reasons,” Jeffery R. Botkin, MD, MPH, chief of the division of medical ethics and humanities in the department of internal medicine at the University of Utah. “Genetic and genomic tests are not uniquely challenging with respect to ethical, legal, or psychosocial considerations, but these features justify careful thought and an element of caution as we assess the benefits and risks of these evolving technologies.”
Advances in genetic testing, as well as physicians better understanding of and experience with such tests in the last 20 years, prompted the American Society of Human Genetics (ASHG) to issue new guidelines on the issues surrounding genetic testing in children. Whole-genome sequencing, chromosomal microarray analysis, and pharmacogenomics present new ethical questions and dilemmas for physicians to consider.
The predictive nature of genetic testing poses a risk to the psychological health of children who are at increased risk for disease onset as adults. As such, the ASHG advises that predictive tests be deferred until adulthood if no suitable disease-testing intervention exists. It also advises that inquiries concerning predictive testing be thoroughly deliberated with parents before decisions are made.
Due to the broad nature of some new genetic testing, incidental information and secondary findings present an ethical dilemma for physicians. The ASHG recommends that secondary findings only be shared with a patient and their parents when that information is necessary for the child’s best interests. The ASHG said parents have the right to decline knowledge of secondary findings in advance of testing; however, physicians are advised to forgo this request if a serious condition is diagnosed.
Other recommendations include requiring parental permission for the screening of newborn patients, adding genetic information to health records, and how genetic testing should be used regarding adoption and paternity issues.
“The ASHG believes that these recommendations will assist families, clinicians, investigators, and policymakers in maximizing the benefits offered by these evolving forms of genetic and genomic testing,” Botkin and colleagues wrote.– by David Costill
Disclosure: The researchers report no relevant financial disclosures.