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Cheap Sequencing to the Clinic

Speaking with a reporter from the Edinburgh Evening News, Mark Blaxter says that whole-genome sequencing is "going to be part of standard clinical practice very soon." Blaxter, a professor at the University of Edinburgh, adds that while clinical sequencing shows much promise, its practice incurs complex ethical quandaries. Blaxter also outlines advances in sequencing technology, and how scientists have applied them along the way.

"I sequenced 3,000 letters of a genome of a small parasite that causes a nasty disease in India for my PhD. Cutting edge at the time, it took three years to do," he tells the Evening News. "The machines we use today can sequence 300 billion bases in 10 days. It's now cheap, accessible and there are all sorts of possibilities with this technology."

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.