Ciara Curtin writes science features for GenomeWeb and is the editor of the Daily Scan and Careers blogs.
An Australian team of researchers designed one-page reports for families that were implemented as part of a national pediatric ultra-rapid genomic testing program.
Using Undiagnosed Diseases Network data, researchers found that whole-genome sequencing leads to diagnoses, even among adults who previously underwent exome analysis.
Most diagnoses made through such testing would not have been caught by typical screens, researchers reported at the National Society of Genetic Counselors annual meeting.
These difficulties may in part stem from how polygenic risk score reports present risk information, a handful of studies have found.
A recent study has found that a polygenic risk score of more than 300 variants could shift what screening recommendations for breast cancer women might receive.
The PennChart Genomics Initiative allows clinicians to order tests and receive results within the health system's EHR system, making them easier to find and better integrating them with other clinical data.
A recent analysis found that it can take between five days and more than a year from when testing is first considered to sample collection.
The draft, presented by the Human Pangenome Reference Consortium, includes novel alleles and is the first step on the way to a diverse reference genome.
The issue may lie in how the same data is analyzed to construct different PRS, posing a challenge for using and discussing the risk scores in the clinic.
UCSD's Keolu Fox said the approach could lead to transparency and accountability as well as help emphasize the values of Indigenous groups in research.