Amplifying genetic testing to better prevent hereditary cancers
Testing for BRCA1 and BRCA2 seeks to identify mutations associated with increased risk of developing certain cancers over a person’s lifetime (primarily breast and ovarian cancers in women and breast and prostate cancers in men). Researchers suspect inherited mutations are associated with 5 to 10 percent of all cancers. National guidelines exist to determine which patients with cancer should receive an evaluation for hereditary cancer; however, fewer than 50 percent of patients in the U.S. with these cancers have been referred for genetic counseling and genetic testing.
Through collaboration withMD Anderson Cancer Network®, the cancer prevention and control platform is working to improve rates of genetic counseling referral, genetic counseling and testing for BRCA1 and BRCA2 mutations. The platform is a comprehensive program-dissemination and amplification hub within MD Anderson’s Moon Shots Program™, a collaborative effort to accelerate the development of scientific discoveries into clinical advances that save patients’ lives.
Leading these efforts are Karen Lu, M.D., professor and chair of Gynecologic Oncology and Reproductive Medicine, and Erica Bednar, genetic counselor with MD Anderson’s Clinical Cancer Genetics Program. They spoke with Cancer Frontline about their program, which is implementing a quality improvement pathway specific to hereditary cancers to ensure all patients with ovarian cancer and triple-negative breast cancer (TNBC) receive recommended genetics services.
Q: Why is genetic counseling/testing so important?
A: Cancer genetic counseling typically includes risk assessment of personal and family cancer history to determine the likelihood of an inherited risk for cancer. It also includes a discussion of hereditary cancer genetic testing options and the implications of testing results.
Individuals who have been diagnosed with cancer may be the best, most informative person in their family to have genetic counseling and a risk assessment to determine if their cancer is inherited. In some circumstances, when a hereditary cause for cancer is identified, the information can affect treatment options and result in recommendations to screen family members. Those found to be at increased risk to develop cancer can be referred to high-risk cancer surveillance and management.
Q: What would you want everyone to know about hereditary cancers and what can be done to reduce risk?
A: One of the best ways to assess your risk is to collect your family health information. We recognize family dynamics are complicated and collecting this information can be challenging. The information can make a huge difference in your cancer prevention options. To learn more about your family health history, talk to older members on both sides of your family. There are tools available to keep track of the information you collect, such as the free, online U.S. Surgeon General’s Family Health Portrait tool. Share this information with your doctor and ask if genetic counseling is recommended for you or someone in your family.
Q: Can you briefly describe your program and goals?
A: Since 2007, national guidelines have recommended that all women diagnosed with invasive epithelial ovarian cancer receive genetic counseling and BRCA1 and BRCA2 genetic testing. A few years later, national guidelines recommended that all women diagnosed with triple-negative breast cancer (TNBC) at age 60 or younger receive genetic counseling and testing. Ensuring all patients with these cancers have access to genetic counseling and testing is crucial, in part because an estimated 20 percent of women who meet these specific testing criteria will be found to have a BRCA1 or BRCA2 mutation.
Aligned with national figures, a 2010 research study found fewer than 50 percent of MD Anderson patients diagnosed with ovarian cancer had received genetic counseling and genetic testing. We were disappointed with these low rates. Between 2012 and 2015, a quality improvement program called the Universal Genetic Testing Initiative was launched within Gynecologic Oncology and Reproductive Medicine. This included implementation of a variety of clinical interventions and process changes, including educational efforts for providers and patients.
We wanted to tackle barriers at more than one level to see if a comprehensive approach could improve the way patients receive genetics services. At the system level, genetic counselors were integrated into the gynecologic oncology clinic so patients could receive genetics services in the same place where they saw their doctor. We used a screening form to identify patients for referral, and we used email reminders to notify providers if a patient was accidentally not referred for counseling. Physicians had access to educational opportunities to learn about hereditary cancer, genetic testing and the availability of genetic counseling in the gynecologic oncology clinic. Additionally, patients received information about genetic counseling and genetic testing when they came for their first appointment to the clinic.
At the conclusion of the initiative, 87 percent of our patients with ovarian cancer had received a recommendation or referral for genetic counseling and testing, and more than 85 percent of those patients completed the testing.
We sought to expand the successful quality improvement initiative to other clinics in Houston and beyond.
Q: How are you collaborating with the cancer prevention and control platform to advance this program, and how has the Moon Shots Program enabled you to tackle challenges in ways you have not been able to do previously?
A: The platform is key to helping us identify opportunities and pathways to expand the initiative’s reach from our single-clinic experience to a multisite project within MD Anderson Cancer Network. Collaborating with the platform and the Moon Shots Program has allowed us to more effectively navigate complicated processes, connect with new collaborators and continue to seek opportunities to expand evidence-based hereditary cancer practices to the broader community.
What results have you seen thus far, and how do you think this will advance the field?
A: We first identified and connected with genetic counselors at three MD Anderson Cancer Network Certified Member health systems to pilot the quality improvement dissemination project.
Each team from participating network locations has found creative ways to adapt, implement and track outcomes of their quality improvement interventions. Data from these efforts already are showing early improvements in patient access to genetics services, and we are hopeful to see an overall improvement in the recommendation, referral, genetic counseling and testing rates for these patients by the end of our three years of quality improvement activity. Ultimately, each patient who has access to genetics services has the opportunity to learn about risks and prevent cancer in themselves and their family.
We’re also learning along the way — especially about the challenges different locations face, how the interventions that worked here at MD Anderson cannot be directly “copied and pasted” in different settings and the importance of building and supporting strong teams and project champions.
Q: What’s next for your project and what challenges remain?
A: We are excited to expand the project, and are just now launching quality improvement initiatives at two additional network locations. These locations will be testing a modified version of our project with only two years of active intervention. We also hope to assess how much of our initial efforts at MD Anderson were sustained, and to evaluate where our next cycle of quality improvement should focus.
Our next biggest challenge is to modify the project so that it can be disseminated to settings where genetic counselors may be in short supply, or where none are providing cancer genetics services to cancer patients. We recognize that this is an important gap in the current standard of oncology care, and we look forward to working with the platform to identify opportunities to take the success of our program to an even larger population.
The MD Anderson Universal Genetic Testing Initiative has been published with a full description of all interventions. Application of the initiative at Harris County Health System’s Lyndon B. Johnson Hospital (LBJ) also has been published.