Within the program, Ochsner is hoping to improve preventive care in certain cancer and cardiac conditions with information from genetic tests performed by Color.
Data from more than 11,800 women with breast cancer suggested unselected BRCA1, BRCA2, and PALB2 testing is cost-effective for UK and US payors and societies.
The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.
The team saw risky mutations in colorectal cancer, polyp, and Lynch syndrome-related genes in almost 4 percent of CRC patients diagnosed at 72 years old, on average.
Investigators pooled older and new data from the Prospective Lynch Syndrome Database, tracking outcomes for different mutations across age and gender groups.
By profiling hereditary risk variants in women with breast cancer, researchers hope to lay the foundation for future genetic testing programs in the Caribbean country.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
