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All the CNVs

A new database housed at the US National Center for Biotechnology Information aims to help physicians determine the clinical significance of copy-number variations, reports Nature Medicine's Spoonful of Medicine blog. The International Standards for Cytogenomic Arrays database "has been established to leverage data from the thousands of patients with developmental disabilities, congenital anomalies, and other phenotypes being tested through ISCA member laboratories," write Emory University School of Medicine's Christa Martin and her colleagues in Clinical Genetics. Martin et al. also discuss a rating system, on a scale of zero to three, that evaluates the evidence for clinical significance. "Before now, there was not a formal process to rate CNV pathogenicity," Martin tells the Spoonful of Medicine. "It made analyzing [CNV microarray] data very confusing for doctors. This database begins to fix that problem."

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.