secondary findings | GenomeWeb

secondary findings

The University of Washington researchers intend to license the tool, called My46, to other academic and nonprofit research organizations free of charge.

The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.

Researchers found that reporting an incidental genetic finding doesn't cause patients extra anxiety and may lead to positive changes if the disease is actionable. 

The study, focused on two genes associated with cardiac disorders, found that patient phenotypes did not correlate with the presence or absence of a pathogenic variant.

Wolf and colleagues recently published a series of articles that included recommendations on how and when to share genomic data with research subjects' relatives.

The statement touches on issues such as the reporting of secondary findings, adult-onset conditions, incest, and non-paternity results.

When researchers find information relating to preventable or treatable life-threatening disease, 98 percent of the respondents said they wanted to be informed.

A group of 10 so-called PediSeeker volunteers from the Children's Hospital of Philadelphia interpreted secondary variants in PediSeq exomes.

Researchers found that less than 2.0 percent of 6,503 individuals had incidental findings in 112 disease genes, but variant classifying remains challenging.

The study tracked the prevalence of incidental variants in whole-exome sequences of more than 200 subjects and evaluated different interpretation strategies.


In PLOS this week: role for Notch signaling in congenital heart disease, sciatica risk variants, and more.

Researchers in China have used the CRISPR/Cas9 genome editing approach to alter the length of hair fibers in cashmere goats.

According to ScienceInsider, the Scripps Research Institute and the California Institute for Biomedical Research are merging.

National Cancer Institute researchers didn't report severe adverse events to Food and Drug Administration in a timely manner, the Wall Street Journal reports.