Genetic testing for hereditary cancer has evolved significantly over the past several years. We are continually learning more information about genes that are associated with increased risks for various cancers; and there are many different genetic tests available that can help you learn more precise information about your patients’ cancer risks, so that you can make more informed, personalized recommendations for medical management, such as increased cancer screenings or preventive surgeries. Additionally, genetic testing for hereditary cancer has been present in the mainstream media, so more people in the general population are becoming aware that these tests are available.
While many patients may come into a healthcare provider’s office and ask about genetic testing, most of them may not actually need it, so the first step is identifying which patients may be at-risk for hereditary cancer. Gathering detailed information about your patient’s family history of cancer is critical to knowing who to test. Ambry offers helpful tools, such as a hereditary cancer questionnaire that can be printed and shared with your patients at their annual visits, as well as online screening tools, to help you integrate this screening into your practice.
The next step is identifying an appropriate genetic test to use for these patients. There are many different genetic tests on the market, and it is important to use a high-quality, comprehensive test, such as Ambry’s 34-gene panel, CancerNext. Results from this testing allow you to get ahead of cancer risk with personalized screening and prevention recommendations, helping your patient make informed healthcare decisions. It is important to be sure that patients are appropriately counseled about genetic testing results and the potential impact on medical management for them and/or their family members. Genetic Counselors are a great resource for patients undergoing genetic testing to provide more detailed information and counseling either pre- or post-testing. Visit NSGC.org to find a Genetic Counselor in your area.
To learn more about the value of integrating this testing into your practice, read our Women's Health Preventative Care White Paper.
For a firsthand account about integrating genetic testing into a clinical practice, and its benefits for patients, we interviewed Dr. Pearl Yee, an OB/GYN in San Francisco, CA, who uses Ambry’s hereditary cancer testing.
1. How did you first learn about genetic testing for hereditary cancer and get started testing patients?
My sister-in-law, who is a physician, informed me that she had a BRCA mutation. She was tested because her mother passed away of ovarian cancer. I was taken aback because looking for a mutation that caused cancer was not high on my radar as an OB/GYN physician at that time. I felt like I was missing a really important component of medical care for my patients. I started to think of past patients with cancers and the need to shift care more toward prevention. As I started to read more literature on this topic, it was obvious to me that certain cancers are definitely preventable. I needed to improve the quality of preventive care for my patients. There were no printed recommendations from our professional society on hereditary cancers for OB/GYNs, so I developed my own checklists and forms to make the process automatic in my office.
2. How do you screen your patients for hereditary cancer genetic testing?
I currently use a pre-printed family history questionnaire. We attach this to a clipboard with an annual update questionnaire and give them to all patients while they wait for their appointment. My staff feels included and they will highlight patients who might consider testing, just as they would highlight a patient with elevated blood pressure.
3. When you discuss genetic testing with your patients, what are the key points that you review with them?
- Gather further details about the family history so I can compare them with the patient’s records for updates.
- Review the availability of genetic tests to screen for hereditary cancer, options for testing and my recommendations.
- Discuss additional details such as:
- Potential test results and the impact of knowing this information
- Coverage, costs and the potential significance of genetic test results
- Genetic Information Nondiscrimination Act (GINA - http://ginahelp.org/) and the benefits and limitations of the protections
- The patient’s likelihood to test positive: For many patients, I say “Most likely you do not have one of these mutations, but knowing would help me make medical decisions about your care.”
- Make a plan for follow-up before collecting a blood/saliva sample for genetic testing: “How do you want to follow-up your results?”
4. How has genetic testing for hereditary cancer helped your patients?
I think of my patient who tested positive for a BRCA1 mutation. Following this, I was screening her closely every six months and noted that she has four sisters. None of the sisters were my patients, but I gave my patient informational brochures about genetic testing, so that her sisters could give this information to their physicians. One of her sisters went to my high school (so many years ago), so I felt comfortable taking it a step further. My patient arranged for me to talk to the entire family at her home to explain what a genetic mutation is and to offer follow-up. I offered to work with their doctors or return them with test results. Every six months when I saw my patient (who is still cancer free to this date) none of the siblings had been tested. Two years after my meeting with the family, the youngest sister developed an invasive breast cancer.After this, everyone had genetic testing and over half of the sisters and their daughters carry the BRCA1 mutation. Fortunately, all of the siblings with the mutation are now undergoing additional cancer screening and preventive care.
5. What impact has offering genetic testing for hereditary cancer had in your clinical practice?
I find that reviewing patients’ family history of cancer in detail adds value to each annual visit. Patients often comment on how thorough we are and appreciate that we care about prevention. They are more satisfied and often have their friends and relatives referred to us because we do address this question.
Addressing the topic of hereditary cancer risks helps me personalize and improve treatment and care for my patients and this has given me a lot of professional satisfaction. Because I have educated myself and am familiar with testing, I am also able to help patients who are already on their cancer journeys find out all the information they can, and impact their families as well. For example, I recently spoke to a patient of mine who had an abnormal mammogram and then a breast cancer diagnosis. She was tested for BRCA1/2 before her surgery and was negative. However, with the newer multi-gen cancer panels available, I recommended she have additional testing and she was found to have a mutation in a different gene that explains the different cancers in her family. She was then able to go back to her surgical team with questions regarding her management options.
6. What advice do you have for other OB/GYNs or healthcare providers who may be interested in integrating genetic testing for hereditary cancer into their practice?
- Once you have been informed, take the time to make screening for hereditary cancer and genetic testing a priority in your practice.
- By adding this to your practice, you will be providing a needed service for your patients and their family members.
- Patients will appreciate you for your efforts.
- I test patients with passion because it makes a difference for their health.
- Prevention is uplifting and energizing, and you can make a difference.
