Huntsville, Ala. – HudsonAlpha Institute for Biotechnology scientists identified clinically relevant secondary findings for parents who participated in a pediatric sequencing project to identify genetic causes for developmental delay in children. Their results are described in a paper published online in Genetics in Medicine Thursday, April 12, 2018.
“The secondary results identified in this study highlight the importance of thoughtful planning for studies that rely on sequencing,” said Greg Cooper, PhD, a HudsonAlpha faculty investigator who leads the pediatric sequencing project at HudsonAlpha. “The experiences and data we describe will be useful for planning and management of other clinical and research sequencing efforts.”
The team of HudsonAlpha scientists, in collaboration with researchers from the University of Louisville and the University of Alabama at Birmingham (UAB), performed exome and whole genome sequencing and analysis on 789 individuals, all parents of children enrolled in an NIH-funded study at HudsonAlpha. The parents were sequenced to help identify genetic changes that cause developmental disorders in their children, but during the analysis the research team also identified additional results – known as secondary findings – with medical relevance to the parents.
Analysis from the genomes of the parents revealed disease-risk variants in 25 participants; these genetic variants associate with heart disease, various forms of cancer, and other potentially serious conditions. For 11 of those individuals, the genetic changes are clinically “actionable,” meaning a medical intervention, such as screening or preventative treatment, are available. The genetic analysis also included a screen for carrier status, which identified 15 variants in 48 individuals. A carrier screen identifies genetic changes that do not by themselves cause disease in an individual but could do so if passed to a child who also receives the same or similar genetic change from the other parent.
In total, 71 of the 789 enrolled parents received secondary findings through the study.
“Most of the parents – about 85 percent – were interested in knowing about secondary results,” said Michelle Thompson, PhD, a HudsonAlpha a senior scientist and the lead author of the paper. “While some of these secondary findings were expected, given the symptoms or family history of the individuals, a few of the results were not anticipated by the parents and may facilitate prevention or early diagnosis of an unexpected, serious condition.”
“Most of the parents – about 85 percent – were interested in knowing about secondary results,” said Michelle Thompson, PhD, a HudsonAlpha a senior scientist and the lead author of the paper. “While some of these secondary findings were expected, given the symptoms or family history of the individuals, a few of the results were not anticipated by the parents and may facilitate prevention or early diagnosis of an unexpected, serious condition.”
Research reported here was supported by the National Human Genome Research Institute of the National Institutes of Health under Award NumberUM1HG007301. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to developing and applying scientific advances to health, agriculture, learning, and commercialization. Opened in 2008, HudsonAlpha’s vision is to leverage the synergy between discovery, education, medicine, and economic development in genomic sciences to improve the human condition around the globe. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. The state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education and includes more than 30 diverse biotech companies on campus. To learn more about HudsonAlpha, visit hudsonalpha.org.
