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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.