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Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Researchers at the University of British Columbia and the New York-based company Nucleus Genomics consider individuals' experiences with polygenic risk scores (PRS) obtained by submitting genetic profiles to a third party, direct-to-consumer (DTC) site for a study in the European Journal of Human Genetics. Using qualitative interview and interpretive description approaches, the team assessed participants' reasons for pursuing DTC PRS testing, as well as their responses to the results they received. Based on data for 11 participants, the authors suggest individuals were generally satisfied with PRS testing, which they tended to pursue to address questions that remained after standard healthcare experiences. "Our findings suggest that the overall experience with receiving PRSs in a DTC setting is largely positive," the authors write. "Many participants reported feeling validated by their results, particularly when their PRS results aligned with their personal or family history."

The Scan

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.