Research Report 2019_20


L to R Kevin Bowling, PhD, Greg Cooper, PhD, and Susan Hiatt, PhD looking at variations in genes to help diagnose rare disease in children.

disease-related genetic variant when they do not, has potentially damaging repercussions such as emotional distress and unnecessary medical interventions. By analyzing self-reported race and ethnicity data, the group also found that African-American individ- uals were more likely than European Americans to receive a false positive result. This likely reflects reduced representation of non-European individuals in clin- ical and research genetic databases. Together, the observations from this study support the notion that array detected disease-linked variants, such as those detectedingeneticscreeningarrays,shouldbeconfirmed by an additional method in a clinical genetics lab prior to returning results to patients, especially for underrepre- sented minorities. The continued diagnostic success of the Cooper lab coupled with the identification of disease-linked genet- ic variants not only provide clarity and hope to patients and their families, but also add to the growing catalog of knowledge of genetic mechanisms that contribute to human health and disease. n

population-based genomic screening in Alabama 3 . At the time of publication, the team had screened 5,369 Alabamians in an attempt to identify genetic varia- tion that may be relevant to participants’ health. The genetic screens were conducted using a screening array designed to genotype more than 654,000 variants, including ~160,000 rare variants that may increase an individual’s susceptibility to a disease. In order for genetic screening tests to be used to inform people of potential health risk, they must be accurate and reliable. While medically-relevant variants were confirmed in ~1.5 percent of study participants, an additional ~1.5 percent of participants were flagged as having medically-relevant variants that turned out to be false positives, meaning they could not be confirmed by DNA sequencing. If confirmatory testing had not been conducted, roughlyhalf of the individualswitharray-iden- tified medically-relevant findings would have been false- ly told that they had an increased risk of a serious condi- tion like cancer or heart disease. Providing false positive results to an individual, or telling them they have a

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