Anne M Huml1, Catherine Sullivan2, Maria Figueroa2, Karen Scott2, Ashwini R Sehgal3. 1. Center for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio; Division of Nephrology, Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio; Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio. Electronic address: ahuml@metrohealth.org. 2. Center for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio. 3. Center for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio; Division of Nephrology, Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio; Departments of Bioethics and Population and Quantitative Health Sciences, Case Western Reserve University Cleveland, Ohio.
Abstract
BACKGROUND: The purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency. METHODS: Forty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined. RESULTS: Concordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin. CONCLUSION: The consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.
BACKGROUND: The purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency. METHODS: Forty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined. RESULTS: Concordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin. CONCLUSION: The consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.
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