Understanding and Overcoming Barriers to Genetic Testing
Article Summary
- Dr. Carmen Calfa is an ardent advocate for germline variant testing that can identify a genetic predisposition for cancer.
- Dr. Calfa’s ELIAS study is using a grant to defray the costs of genetic testing for people whose insurance doesn’t cover it.
- Dr. Calfa is studying additional barriers to genetic testing and disparities among patients from different cultures and populations.
Despite advances in genetic sequencing techniques and bioinformatics that have enabled rapid and efficient detection, most patients diagnosed with cancer do not undergo genetic testing, also known as germline testing, that can trace cancer to inherited gene changes.
Carmen Calfa, M.D., breast cancer medical oncologist and medical co-director of Sylvester Comprehensive Cancer Center’s Cancer Survivorship Program, is committed to changing this.
“Detection of pathogenic germline variants (PGVs) impacts cancer screening, prognostication, treatment selection, clinical trial enrollment and family testing,” said Dr. Calfa, also an associate professor of clinical medicine and physician leader of the Genetic Predisposition Syndrome (GPS) Initiative. “By overcoming barriers and advocating for universal genetic testing for cancer patients, we can maximize the identification of positive genetic predisposition carriers and impact health outcomes.”
Genetic Testing Is Easy and Reliable
Dr. Calfa pointed out that several barriers to genetic testing exist and adherence to testing is low. Guideline-directed testing has evolved with recent updates from the American Society of Clinical Oncology recommending genetic germline testing for nearly all breast cancer patients. This reliable test uses blood or saliva samples to identify changes in specific cancer-related genes inherited from a parent.
“Research has previously shown that 50% of patients with PVGs would not have been detected with guideline-based testing alone,” said Dr. Calfa. “Approximately 10% of high-risk patients with breast cancer are found to carry a pathogenic mutation in one of the breast cancer-predisposition genes.”
WCA Grant Offsets Costs
The all-volunteer, non-profit University of Miami Woman’s Cancer Association (WCA) has supported Sylvester for 65 years, donating more than $15 million for cancer research, education and patient needs. Annually, the WCA awards a grant to a Sylvester physician-researcher for work that will impact cancer research, cancer prevention and cancer outcomes.
The Pearl M. and Edwin L. Powell Woman’s Cancer Association Endowment Fund was given to Dr. Calfa to support her Everlasting Impact at Sylvester (ELIAS) study. The initiative eliminates financial concerns that often prevent cancer risk assessment and allows the study of additional culturally and racially sensitive barriers that prevent universal germline testing.
The $31,000 WCA grant will offset genetic testing costs for patients denied insurance coverage and unable to afford the out-of-pocket costs of testing. It also funds cascade testing for family members of patients with a pathogenic variant.
Dr. Calfa will also study additional barriers and disparities among patients from different cultures and populations. Participants who decline testing are invited to complete questionnaires to identify other potential barriers, such as a lack of awareness of genetic testing benefits, fear of the emotional and psychological impact of knowing the results and more.
“The WCA is honored to provide funding for Dr. Calfa’s crucial research to support germline testing and accelerate the discovery of new opportunities for breast cancer risk prevention, early detection and intervention,” said WCA President Nora Tenney. “Programs like these bring us closer to a cancer-free world.”
Impacting Future Generations
The impact of genetic testing goes well beyond the patient being tested.
“Each offspring has a 50-50 chance of inheriting a germline pathogenic mutation from an affected parent,” said Dr. Calfa. “Diagnosing one person allows us to impact cancer risk for future generations.”
Patients with genetic predispositions, as well as their first-degree family members, can find support at Sylvester’s Genetic Predisposition Syndrome (GPS) Clinic, launched and supported by the Eileen Youtie Hereditary Predisposition Initiative. The clinic’s comprehensive and multidisciplinary team provides coordinated and personalized care to patients with a genetic predisposition to cancer, from health monitoring to risk-reduction tactics and survivorship strategies.
“By expanding genetic testing, we can identify individuals and families at the highest risk for multiple cancers,” said Dr. Calfa. “Implementing personalized and risk-adjusted screening and surveillance allows the earliest detection of cancer when cure rates are the highest.”
It also invites timely risk-reduction interventions, significantly minimizing the risk for certain cancers, as well as for family planning with the help of assisted reproductive fertility.
“As oncologists, we wake up every morning with the renewed commitment to end cancer,” continued Dr. Calfa. “By identifying and testing those who are at risk for carrying a genetic alteration that increases the risk of cancer, we are saving lives at an exponential rate. It is within our power to increase awareness, eliminate barriers and close disparity gaps.”
Tags: cancer genetics, cancer research, Dr. Carmen Calfa, Eileen Youtie Predisposition Syndrome Initiative, ELIAS, genetics