Less than 10 percent of cancers are thought to be hereditary, but for patients with certain diagnoses or those with a family history of the disease, a hereditary cancer risk assessment with genetic testing may be a helpful tool in prolonging their lives.
Genetic testing for hereditary cancer syndromes can identify inherited gene mutations that make some people more prone to certain cancers. Knowing your risk will help you to take a proactive approach to life-saving cancer screenings, catching cancer early when it is more treatable.
So how do you know if you’re a candidate? Individuals who have been diagnosed with breast, uterine, or colon cancers under age 50, or with pancreatic, ovarian, or metastatic prostate cancer at any age generally meet the criteria for genetic testing. Ethnicity can be a factor in considering genetic testing as well. For example, those with Ashkenazi Jewish ancestry are at increased risk of carrying mutations in BRCA1 and BRCA2 genes, which are linked to breast and ovarian cancers.
A genetics professional can help you decide whether testing is right for you and your family. He/she can also guide you in interpreting the results, which are not always easy for a layperson to understand.
The Cancer Genetics Program at Holy Name offers comprehensive testing and evaluation, up-to-date information about hereditary factors, and a personalized care plan. We use advanced multi-gene panel testing, which examines a large number of genes. Individuals who are found to carry mutations in these genes, may be at a higher risk than the general population to develop certain cancers.
Step by Step
Many patients contact us for genetic testing and counseling after a referral from an oncologist, gynecologist, gastroenterologist, and/or primary care provider, but a physician referral is not always necessary. We use video conferencing for the first consultation, which lasts about 30 to 45 minutes. We review the patient’s medical history and draw out a family tree. We then explain how genetic testing works, outlining the risks and benefits, so patients can make an informed decision on whether they would like to proceed.
Genetic counseling can be performed remotely via teleconference. If patients decide to proceed with testing, there are two options for specimen collection: via saliva or blood. If the patient opts to perform the testing via saliva, a saliva kit can be sent to the patient’s home. The patient mails the kit to a specialized laboratory. Patients can also choose to perform the test via blood collection, which can be performed on site at the Patricia Lynch Cancer Center at Holy Name Medical Center in Teaneck. Or, we can arrange for a phlebotomist from the laboratory to go to the patient’s home to obtain the sample.
Once the lab receives the specimen, it takes about two to three weeks to obtain results. We call the patient within a few days to discuss the results and next steps, which can include screenings, specialist referrals, and/or treatment options. We may also recommend whomever else in the family should undergo testing if mutations are found.
Improving Patient Care
The information we receive from these results enables us to take better care of patients. If the patient receives a positive result, we might suggest changes to a patient’s healthcare plan, including more frequent cancer screenings. Even with a negative result, we still might make these recommendations based on family history.
Patients who test positive for mutations associated with a high risk to develop certain cancers may also consider prophylactic surgery, designed to prevent cancer through the removal of a disease-free organ or gland, such as a hysterectomy or mastectomy. Prophylactic therapies, such as the medication tamoxifen, can also be considered for patients who test positive for certain high-risk mutations.
A type of targeted therapy - called PARP inhibitors - may be recommended for patients who have cancer and carry mutations in particular genes. Our testing and consultation services provide more precise and comprehensive results and analysis than direct-to-consumer tests on the market. Many insurance plans cover the expense, however, we have reasonably priced options for a moderate amount for those without insurance or who do not meet their insurance company’s guidelines for testing.
Our Knowledge is Expanding
What we learn from genetics continues to evolve, with new gene mutations being identified all the time. If you had genetic testing more than five years ago, you may want to consider an expanded panel.
Neither finances nor anxiety should hold you back from scheduling a genetics consultation. Although it may be tempting to perceive a positive result as “bad news,” it is important to understand that knowing one has an inherited mutation that predisposes them to particular cancers allows for individuals and their family members to be proactive about their care.
We cannot always stop cancer from developing within a person or family, but identifying an inherited mutation through genetic testing could potentially save the lives of you or your loved ones for generations to come.
Jina Stephen, PA-C., MBA, is a board-certified physician assistant. She has undergone specialized training to work with oncologists, surgeons, and genetic counselors to perform comprehensive hereditary cancer risk assessments and genetics counseling. For more information about Holy Name’s Cancer Genetics Program or to schedule a consultation, please call 201-833-7062 or 201-541-6303.