Precision Medicine in Cancer:
Post-Diagnosis Impact of Germline Genetic Testing
December 8, 2021
DELRAY BEACH, FL – A germline variation in a cancer predisposition gene can have drastic effects on treatment response and outcome for patients with a current or previous cancer diagnosis, regardless of the cancer site. A staggering number of germline variations are associated with many types of cancers, including breast, ovarian, colorectal, prostate, etc. Germline testing offers both doctor and patient a way to treat cancer in an individualized and precise manner that improves outcome, safety, and quality of life.
Based on current research, the most common gene variations found in population are within BRCA1/2 and those associated with Lynch Syndrome, “affecting approximately 1 in 279 and 1 in 400 Americans, respectively.”1 Women with a BRCA variation have an increased lifetime risk of around 70% for breast cancer and 40% for ovarian cancer, versus 13% for breast and 1.3% for ovarian in the general population. Upwards of 10% of men with prostate cancer have a BRCA variation, as well. Lynch Syndrome-associated variations elevate risk of certain cancers up to 70%, including endometrial, ovarian, and pancreatic.1
For many hereditary cancers, including BRCA-linked, knowledge of a pathogenic variation can inform prevention and screening strategies. More importantly, germline testing can guide treatment decisions and options for care in patients already diagnosed with cancer. With a more accurate risk assessment from a multi-gene panel, such as the Genetics Institute of America GIAnomicsTM Hereditary Cancer Test, doctors can adapt treatment strategies to specific germline variants and reduce the high morbidity and mortality of these patients.1
Heritable Cancers and Treatment Examples Based on Germline Variants
Knowledge of germline mutations will increase preventative screening of cancer patients and can also, identify patients with contraindications to their treatment regimen. For example, “patients with Lynch syndrome with stage II MSI-H tumors do not benefit from fluorouracil adjuvant treatment therapy. In the case of breast cancer, patients who are not carriers of a BRCA1/2 mutation are suitable for accelerated partial breast irradiation.”1
With so many treatment options available for these heritable cancer types alone, cancer patients should be offered germline genetic testing, like Genetics Institute of America’s GIAnomicsTM Hereditary Cancer Test, before any major treatment decisions are made. Not offering this invaluable tool could restrict a patient’s access to the life-saving treatment they need to improve their health outcome.
Owens K, Schlager L, Welcsh PL. The impact of germline testing for hereditary cancer postdiagnosis. Am J Manag Care. 2019;25(9 Spec No.):SP285-SP287.