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Follow-Up Data Requests to Biobank Participants Ineffective, Study Finds

Recontacting people who previously participated in biobanks in order to collect additional information may not yield as much data as expected, indicating that such information should be gathered at the time of biobank enrollment, a study appearing this week in BMJ Open finds. Biobanks are being established across the world with the goal of linking biological measurements with extensive longitudinal health information, but most do not include an extensive in-person examination at recruitment. To examine the effectiveness of post-participation information gathering by biobanks, a team led by University of Helsinki researchers reached out to nearly 6,000 people who had participated in the FinnGen study — a research project combining genotype data generated from Finnish biobank samples and digital health record data — seeking cognitive, behavioral, and lifestyle information. Requests for the information were sent either online or via post. The researchers find while recontacting the biobank enrollees with a physical letter was more effective than through an online healthcare portal, overall participation in the follow-up was low, although the data collected were reliable. The study's authors speculate that returning some tangible incentive and/or relevant health information to participants might improve participation rates but suggest that information from biobank participants should be collected at the time of enrollment whenever possible

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.