False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

Purpose: There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance.

Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.

Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results.

Iris texture traits show associations with iris color and genomic ancestry.

Objectives: This study seeks to identify associations among genomic biogeographic ancestry (BGA), quantitative iris color, and iris texture traits contributing to population-level variation in these phenotypes.

Methods: DNA and iris photographs were collected from 300 individuals across three variably admixed populations (Portugal, Brazil, and Cape Verde). Two raters scored the photos for pigmentation spots, Fuchs' crypts, contraction furrows, and Wolflinn nodes.