Skip to main content
Premium Trial:

Request an Annual Quote

Germline Genetic Testing 'Underused' in Colorectal Cancer Patients

In JAMA Network Open, investigators from Invitae, Optum Labs, UnitedHealthcare, and Variantyx look at germline genetic testing uptake and outcomes in colorectal cancer (CRC) patients diagnosed before or after a 2020 change that saw a boost in insurance coverage for such tests in newly diagnosed CRC cases. Using insurance claims and billing data, the team assessed germline genetic testing and microsatellite instability (MSI)/immunohistochemistry (IHC)-based testing for DNA mismatch repair (MMR) defects in CRC cases diagnosed between early 2017 and the end of 2020. In a group of 9,066 eligible individuals with CRC during that time frame, the authors saw MSI/IHC testing for MMR in more than 73 percent of patients. In contrast, just 3 percent of CRC patients got broader germline genetic testing in a larger group of almost 55,600 CRC cases diagnosed in 2020. "This nationwide cohort study found suboptimal rates of MSI/IHC screening and germline genetic testing uptake, resulting in clinically actionable genetic data being unavailable to patients diagnosed with CRC, despite universal eligibility," they write. "Effective strategies are required to address barriers to implementation of evidence-based universal testing policies that support precision treatment and optimal care management for patients with CRC."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.