7 Diseases Benefiting from Genetic Tests

Genetic testing is playing a growing role in diagnosing and treating diseases, particularly when it comes to certain cancers and rheumatic conditions. An FDA decision in November 2017 to approve the use of a multi-gene panel to evaluate more than 300 genes in cancer tissue will ensure even broader use of these promising treatment approaches.

“The FDA’s move will lead MCOs to appraise the clinical utility of these new tests to help determine future healthcare coverage and cost implications,” says Phil Smalley, MD, FRCPC, chief medical director, Wamberg Genomic Advisors, a genetic testing consulting firm and provider.

CMS has already proposed coverage for the test, the FoundationOne CDx (F1CDx).

Smalley says potential benefits of genetic testing of cancer tissue specifically include:

• Sharper diagnostic accuracy
• Improved treatment selection using precision medicine
• More patients enrolled in clinical trials and new cancer drug discoveries
• Better predictions regarding patient survival and improved survival
• Fewer cases of cancer occurring in family members

Many studies have already shown that personalized oncology therapies based on tumor genetic biomarkers improve patient outcomes, Smalley says. Even in end-stage cancer patients, some studies show that genomic profiling guided targeted therapies can benefit patients. The recently published Moscato trial showed that 49% of solid tumors carry at least one actionable genetic mutation that can be treated with existing targeted drugs directed at cancers with those specific genetic alterations.

Here’s a closer look at cancers and other conditions benefiting from genetic testing and biomarkers.