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NIH Creating Genetic Testing Registry

The National Institutes of Health is creating a genetic testing registry: a public database that researchers, consumers, healthcare providers and others can use to search for information submitted by genetic testing providers. The NIH says its aim is to improve access to information about the availability, validity and usefulness of the more than 1,600 genetic tests available to patients and consumers. Genomics Law Report's Dan Vorhaus says that since the registry is voluntary, that limits its usefulness as a regulatory tool, but he adds that "it has the potential to prove extremely valuable to personal genomics companies and consumers alike." DTC genetic testing company 23andMe has already indicated its willingness to participate in the project.
Blogger Daniel MacArthur writes at Genetic Future that the database will have the added benefit of "providing consumers with an easier way to distinguish between accurate, useful genetic tests and contemptible bottom-feeders."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.