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Knowledge Is Power

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Thanksgiving is Family Health History Day. This year, while you’re gathered for your Thanksgiving meal, consider discussing your family’s health history. Knowing your family healthy risk keeps you informed and what you learn may encourage you to get genetic testing. At Providence St. Joseph Hospital we are committed to helping you know your risk for disease. “Inherited genetic risk is more common than you might think,” says Sandra Brown, a licensed, certified genetic counselor and regional manager of genetic medicine. “Genetic counseling is readily available, and the low cost of testing makes it more accessible. We know that about one in 200 people have an inherited condition.” We are not talking about the kind of testing that you get online. “Get the right test for you,” cautions Brown, “a test that’s clinically valid and interpreted accurately by a genetic counselor, who will also provide you with personalized prevention and risk reduction planning.”

KNOW YOUR RISK FOR CARDIOVASCULAR DISEASE

“In terms of cardiovascular disease, genetics is becoming much more important in helping patients figure out their diagnosis and potentially finding treatments or other family members at risk,” says Carol Ko, a licensed, certified genetic counselor at the Providence St. Joseph Genetics Program. Typically, a person is sent for genetic testing and counseling by their cardiologist, who has identified concern about a genetic heart condition or a strong family history of disease. Genetic counselors are an important part of the team. “We look for people who get heart disease in their 40s and 50s—earlier than we would expect,” says Ko. “Or instances where multiple generations have heart issues. We take the time to go through their family history and help the patient and their doctors understand what complex genetic results mean.” Providence St. Joseph is the only place that offers comprehensive cardiovascular genetic testing services in Orange County. “We, as a field, are working towards getting more cardiologists and providers to recognize patients who are high-risk,” says Ko. “It allows us to be more proactive in terms of treatment and can definitely save lives.”

GENETIC TESTING FOR CANCER 

“Through genetic testing and family history, we provide risk estimates based on both empirical risk and genetic risk, and we can help patients understand and reduce their risk of developing cancer,” says Brown. “We know that about 30% of the general population would benefit from a genetic risk assessment.” “Our patients are often identified in the screening setting,” explains Brown. “Before arriving for a screening mammogram, we send out an electronic questionnaire to ask about their personal and family history (see “The CARE Program,” below). “A personal and/or family history of certain types of cancer, such as ovarian, pancreatic, or an aggressive form of prostate cancer, or young age of onset of any type of cancer are indications for genetic testing.” “The goal is twofold,” says Brown. “One is to prevent future cancer. And the other—that’s more recent and known as precision oncology—is that patients diagnosed with cancer may meet criteria for targeted therapies and for research based clinical trials.” Providence St. Joseph is unique in offering same-day genetic testing. “Our mammography CARE program patients and our cancer treatment patients can come to the genetics department without an appointment,” says Brown. “Tests are typically saliva or blood tests, and analyze over 80 genes linked to cancer. We have already identified hundreds of patients with genetic mutations through our same day services."

For more information, call (714) 734-6229 or visit providence.org/sjogenetics.

THE CARE PROGRAM

Women at a higher risk for breast and other cancers are identified at Providence St. Joseph through a secure application and AI chatbot as part of the CARE program, launched in January 2021. The CARE program allows the uniform delivery of individualized screening, automated identification and personalized management of high-risk patients. When a woman schedules a mammogram, she receives a pre-appointment questionnaire via secure chatbot on her smartphone or via email. Based on the responses, the patient’s current lifetime risk of developing breast cancer is automatically determined using the Tyrer-Cuzick Model Breast Cancer Risk Evaluation Tool. “And the chatbot is able to determine whether or not the patient meets national guidelines for genetic testing,” adds Brown, “so that the patient can consider having same-day genetic testing following their mammogram.”