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Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Direct-to-consumer genomic testing offers little clinical utility but appears to cause minimal harm
Stacie D Adams1, James P Evans, Arthur S Aylsworth
1Corresponding author: Arthur S. Aylesworth, University of North Carolina at Chapel Hill, CB 7487, Chapel Hill, NC 27599, USA. asayls@med.unc.edu.
Abstract:
Direct-to-consumer genomic testing is available to anyone willing to pay for it. We investigated the reliability and reproducibility of such testing by sending DNA samples to 2 popular companies and by reviewing current literature on this topic. The concerns that were initially raised about direct-to- consumer genomic testing still seem valid.
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