Skip to main content
Premium Trial:

Request an Annual Quote

'Nobody Speaks for the End Users'

Mary at The OpenHelix Blog — hosted by the genomics research resource firm — applauds the National Human Genome Reseach Institutes' efforts to plan for "sustainable exponential growth,""focus on democratization," and "spur better software development," (via Sean Eddy at Cryptogenomicon) but says that no one "really speaks for the consumers of this software and this data." Specifically, Mary writes, beyond question-and-answer style feedback systems and marker papers, "nobody speaks for the end users." The blogger says she'd like to see enhanced outreach efforts, and that they be required — though she doesn't suggest by whom. "No matter how much hardware and documentation you throw at these projects, if people don't know it exists, and have no idea how to use it, the project will not yield all the results that it could," Mary writes, adding that outreach should be standard procedure for software and database projects, "not an afterthought."

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.