Montage Health’s Genetic Risk Assessment program is empowering Monterey County residents and their relatives to prevent and treat hereditary cancers, which are cancers caused by a gene mutation inherited from one or both parents. The program identifies individuals who have an increased risk for developing hereditary cancer, called hereditary cancer syndrome, allowing patients and their families to make informed decisions about cancer screenings and treatments.
“That means 1 out of every 25 to 50 people have hereditary cancer syndrome,” says Dr. Daniel Luba, who specializes in gastroenterology and internal medicine. Luba co-directs the Genetic Risk Assessment program with Dr. Lulu Zhang, a hematology and medical oncology specialist.
We are fortunate to have the benefit of doctors and a nurse practitioner with world-class medical genetics expertise in a small community like this. This program offers lifesaving opportunities for early cancer detection and prevention, and it is encouraging to see the ways genetic testing is benefiting our community.
— Dr. Steven Packer, Montage Health President and CEO
When someone carries a genetic mutation that increases their risk for a cancer — like the BRCA gene mutation that increases risk for breast and ovarian cancer, also called breast and ovarian cancer syndrome — they have a 50-50 chance of passing that mutation to their children, and that person’s blood-related brothers and sisters also have a 50-50 chance of carrying the same mutation. When hereditary cancer syndrome is identified in an individual through genetic testing, their relatives can receive cascade testing, meaning every at-risk family member can also receive genetic testing.
“Even for someone with end-stage cancer, genetic testing can be one of the best things to do for them,” Luba says, “because you are helping their relatives possibly avoid a similar outcome.”
Detecting cancer early is crucial to survival, especially regarding breast and prostate cancers, which are among the most common cancers and have high survival rates when detected early. These cancers often show no signs or symptoms until they develop to the point where treatment becomes more complicated and survival rates drop, highlighting the importance of regular screenings like mammograms and prostate exams.
How to access genetic testing and how it works
Screening and subsequent genetic testing can be accessed with a doctor’s referral. If a doctor and patient decide that the patient may be at an increased risk for hereditary cancer syndrome, the patient can be referred to Montage Health’s Genetic Risk Assessment program. Everyone who receives a mammogram at Carol Hatton Breast Care Center can receive genetic screening.
The initial screening is done via a CancerIQ questionnaire which takes about 30 minutes to complete and asks in-depth questions about family history, demographic information, medical history, and lifestyle. During the appointment with the Genetic Risk Assessment program, the questionnaire is reviewed for accuracy and sufficient information and results are assessed by Montage Health’s hereditary cancer experts. If an increased hereditary cancer syndrome risk is indicated by the CancerIQ screening, patients can then receive genetic testing by providing a saliva or blood sample. Results from the test typically take about two to four weeks.
The test identifies gene mutations that are known to cause cancer, like BRCA or Lynch gene mutations. The Lynch gene mutation leads to an increased risk for developing colon, gastric, ovarian, pancreatic, and ureteral cancers. The most common hereditary cancers are breast, ovarian, colon, prostate, uterine, and pancreatic cancers.
Patients who take the CancerIQ screening before their mammogram at Carol Hatton Breast Care Center and are determined to be at a higher risk for hereditary cancer syndrome are offered the opportunity to meet with the genetics team, have their questions answered, and make an appointment to meet with the program’s genetics nurse practitioner.
The genetic test can provide three different types of results:
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A negative result, meaning the patient did not inherit or develop a gene mutation that can lead to cancer
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A positive result, meaning the patient did inherit or develop a gene mutation that can lead to cancer
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A variant of uncertain significance, meaning there is a genetic mutation, but it is uncertain whether the mutation signifies an increased risk for developing hereditary cancer
In most cases, a variant of uncertain significance means the patient is not likely to be at a higher risk for having hereditary cancer syndrome. While the first two results can often provide a clear path forward, a variant of uncertain significance means patients and their care providers make decisions and judgements about preventative measures based on the CancerIQ screening results and family history.
Medical decisions based on genetic test results are considered within the context of the patient’s life. For example, if a genetic test indicates a BRCA mutation which can cause ovarian cancer, factors such as the patient’s desire to have children, their ability or desire to undergo surgery, and other personal, social, and familial factors inform what steps are taken.
The importance of genetic testing
Genetic testing empowers people who have a higher risk for developing hereditary cancer and brings peace of mind to people who have not inherited these gene mutations. When a gene mutation is identified before cancer has developed, preventative measures can be taken including increased and enhanced screenings through regular MRIs, preventative medications, surgeries like a hysterectomy or mastectomy, and lifestyle adjustments.
Identification of hereditary cancer syndrome also informs treatment of hereditary cancer if it develops, or if it has already developed. For example, people with breast or ovarian cancer syndrome can receive a PARP inhibitor treatment, which specifically treats inherited breast and ovarian cancers.
Hereditary cancer can sometimes indicate risk for developing another cancer, empowering patients to take preventative measures against developing another cancer if one is already detected. For example, patients with breast and ovarian cancer syndrome are also at a higher risk for developing pancreatic or prostate cancer. When patients are aware that they have breast and ovarian cancer syndrome, they can also take preventative measures against developing pancreatic or prostate cancer.
Coordinated cancer care and prevention
Patients in the Genetic Risk Assessment program receive guidance, counseling, and care that is coordinated across the patient’s healthcare environment. Maria Dalmacio, a nurse practitioner at the Comprehensive Cancer Center and hereditary cancer expert, coordinates the Genetic Risk Assessment program and provides the initial assessment, genetic testing, counseling, and care coordination with the patient’s primary care doctor, specialists, and other care providers.
“You can think of me like a hub in the middle of a wheel, connecting all the spokes of care,” Dalmacio says, “which can be especially helpful for patients who are dealing with the subject of cancer. Our patients have lives, families, and responsibilities, so my goal is to make this process as easy as possible for them.”
Luba says that in the future, genetic testing may be applied to more areas including pharmacology and cardiology to test for genetic predisposition to heart disease or adverse reactions to certain pharmaceutical drugs. He envisions genetic risk assessment as a routine part of the healthcare system for everyone, where screenings are common in most healthcare settings including primary care, specialties, and surgery.
“80 percent of ovarian cancer patients at Community Hospital of the Monterey Peninsula receive genetic testing, which is well above the national average,” Luba says. “We’ve been successful in implementing this program in our community, but there is still work to be done to make the program even more robust and lifesaving.”
"We are fortunate to have the benefit of doctors and a nurse practitioner with world-class medical genetics expertise in a small community like this,” says Dr. Steven Packer, Montage Health President and CEO. “This program offers lifesaving opportunities for early cancer detection and prevention, and it is encouraging to see the ways genetic testing is benefiting our community.”
If you have a family history of cancer or believe you may be at risk for hereditary cancer syndrome for any other reason, talk to your doctor about genetic risk assessment. “Having a hereditary risk is like sitting on train tracks, and once you identify that risk, you can stand up and get off the tracks,” Luba says.
For more information about Montage Health’s Genetic Risk Assessment program, call (831) 622-2764.
