New research suggests rethinking clinical genetic testing of minors

see The psychological impact of genetic information on children: a systematic review and Predictive genetic testing of minors: evidence and experience with families

Children, it seems, may be more ready to handle hearing the results of genetic testing for disease predisposition than adults realize. The findings of a systematic review by Wakefield et al. reported in this issue suggest that children who receive results of genetic testing do not on the whole suffer psychological harm. Rather, the review reveals, first, that there have been very few studies (13) collecting evidence of psychological effects on children, and second, those studies that have been done looked only at short-term effects, making it difficult to draw conclusions about the appropriateness of allowing minors to have their genetic risk factors assessed. The study findings seem to run counter to published guidance from the American College of Medical Genetics and Genomics and commentary by some medical genetic thought leaders who have discouraged any testing of minor children before the age of consent. In a Commentary accompanying the review, Barbara Biesecker, head of the genetic services unit at the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, suggests that the patient-centered care and patient empowerment movements argue for trusting that parents are capable of making well-considered decisions on behalf of their children. While Wakefield et al. defer to current guidance from professional medical genetic organizations, Biesecker suggests that predictive genetic testing of minors should be reconsidered. She argues that future studies may “never adequately address the personal and complex nature of predictive testing of minors.” Therefore, adolescent minors, in consultation with genetic counselors and their parents or guardians, should feel empowered to make informed decisions in individual cases. However, Biesecker notes that Wakefield et al. provide valuable data and perspective to help genetic counselors overcome fears about possible adverse psychological outcomes among minors undergoing predictive testing. —Karyn Hede, News Editor

Rare Mendelian disorder revealed through online social networking

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

A frustrated family’s desperate plea for help via social media has led to identification of a new Mendelian disorder and helped launch a new Web resource to connect families, researchers, and clinicians researching rare genetic diseases. After several years without a diagnosis for their son Milo’s debilitating constellation of symptoms, the Lorentzen family went public in a social media blitz to find answers. Within days, a second family who had a child with similar developmental delays and physical features responded. The research team that identified lysine (K)-specific demethylase 1A (KDM1A) mutations in both children reports in this issue that the family’s activism helped inspire them to launch the Repository for Mendelian Genomics Family Portal (MyGenes2). The condition is exceedingly rare because the KDM1A gene encodes a histone demethylase that is among the most evolutionarily conserved of all genes. Model organism studies have shown that KDM1A plays important roles in regulating gene expression during development. Researchers hope that the MyGenes2 portal will help break open some of the siloed genetic information now squirreled away in individual research laboratories and allow families to more fully participate in the research process. The research team sees social networking as a potentially powerful strategy to discover genes for rare Mendelian conditions, particularly those with nonspecific phenotypic features. The hope is that the portal will also reduce the ever-growing number of variants of unknown (or uncertain) significance that now proliferate in clinical genetic laboratories. —Karyn Hede, News Editor