Study From UNR Med and Renown in JAMA Network Open Highlights Gaps in Genetic Screening for Hereditary Breast and Ovarian Cancer
September 25, 2024
Data demonstrates that a proactive approach to family history assessment and genetic screening will increase early detection of inherited risk.
A new original investigation article published in JAMA Network Open, “Screening Familial Risk for Hereditary Breast and Ovarian Cancer,” by authors from University of Nevada, Reno School of Medicine, Renown Health and Helix for the Healthy Nevada Project® emphasizes the critical need to increase genetic screening in identifying individuals at increased risk of breast and ovarian cancer due to family history. This landmark study calls for enhanced awareness, the adoption of genetic screening practices, and, importantly, the direct screening of family history by individuals using a simple tool such as the FHS-7 questionnaire.
Breast and ovarian cancers remain leading causes of cancer-related deaths, with genetic factors playing a key role in up to 10% of cases. The study authors advocate for wider adoption of screening protocols, simple family risk questionnaires and education about the benefits of genetic testing, not only for patients but also their family members who may share similar genetic risks.
Breast cancer is a leading cause of cancer death among women in the United States. According to the American Cancer Society, about 1 in 8 women will develop breast cancer and about 1 in 36 women will die from breast cancer. Since 1990, breast cancer death rates have declined progressively due to advancements in screening, treatment and detection. Here in Washoe County, Nev., the age-adjusted mortality rate for 2020 (last update) is 21 deaths/100,000 females due to breast cancer, which is higher and worse than the national U.S. value of 19.6. Nevada ranks near the bottom in breast and cervical cancer deaths in women according to a recent Commonwealth Fund report. Across the U.S., approximately 1.1 percent of women will be diagnosed with ovarian cancer at some point during their lifetime.
The research underscores that individuals with a family history of breast and ovarian cancer have a higher likelihood of carrying genetic mutations in genes such as BRCA1 and BRCA2, which significantly elevate their cancer risk. However, many at-risk individuals remain unaware of their genetic predispositions due to limited screening practices.
Evidence suggests that “up to 80% of patients with a pathogenic or likely pathogenic (P/LP) variant in the BRCA1 and BRCA2 genes are unaware of their condition and subsequent risk for hereditary breast and ovarian cancer. Rare or less penetrant P/LP variants in genes such as PALB2, CHEK2 and ATM are even less likely to be detected. This is concerning because the lifetime risk for breast cancer exceeds 50% for women with P/LP variants in BRCA1/2 and 20% for women in P/LP variants in PALB2, CHEK2 and ATM (compared with a baseline risk of 12%).”
The study also found that men with family history are just as likely to have pathogenic variants in BRCA1 and BRCA2 as women. This is important because not only are men at increased risk of breast, prostate and other cancers, these risks are passed on to daughters, nieces and other members of the family through inheritance. Men are under-represented in the Healthy Nevada Project® and other similar population health studies.
Daniel Kiser, MS, lead author of the study stated, "Our work shows that family history collected during routine medical care can be evaluated using simple criteria and used to identify patients with elevated risk for inherited cancers. Because there are a number of steps that can be taken to reduce risk, both for the patient and for their family members, following up with these patients has the potential to substantially reduce mortality and the incidence of cancer."
“Prevention or early detection of disease is such an important part of healthcare,” says Bill Plauth, MD, MMM, CPE, Chief Medical Officer for Renown Health and Associate Dean for Clinical Affairs at the University of Nevada, Reno School of Medicine. “The Healthy Nevada Project® is leading the way in helping Renown Health physicians and clinicians assess family history risk of breast and ovarian cancer syndrome. This in turn, enables us to provide our at-risk patients the best available tools for prevention or to catch cancer at an earlier stage, which affords less aggressive treatment options with significantly improved survival.”
The study found that routine genetic screening for individuals with a strong family history of these cancers could lead to more personalized and effective healthcare strategies, including preventative surgeries, increased surveillance, or early interventions. It also highlights the gap in awareness and access to genetic testing, particularly in underserved populations.
“One of the lessons from our work is the importance of assessing family history early and often in the healthcare journey of patients,” says Joseph Grzymski, PhD, Chief Genomics Officer of Renown Health, the Principal Investigator of the Healthy Nevada Project, and a faculty member in the Department of Internal Medicine at the University of Nevada, Reno School of Medicine. “We recommend that everyone get screened for CDC Tier 1 conditions but particularly, when family history indicates risks, genetic screening is a powerful tool for risk stratification.”
Key Recommendations from the Study Authors Include:
- Increased Engagement of Patients with Physicians: People with a family history should discuss their history with their primary care physician or health care provider and request a genetic screening. This proactive approach to prevention will save lives.
- Increased Access to Genetic Testing: The need for more accessible and affordable testing options, like the no-cost screening provided by the Healthy Nevada Project®, particularly for those with a family history of breast or ovarian cancer.
- Increased Pre-Screening and Genetic Counseling: Providing patients with the necessary counseling to understand the implications of genetic mutations and guide their healthcare decisions. Pre-screening patients with either a personal or family history of cancer with one of several simple family history tools, such as the FHS-7 Questionnaire to determine whether they should be referred for genetic services would also help increase early identification and reduce costs.
As of January 2024, the Healthy Nevada Project® had notified 330 individuals with P/LP variants in BRCA1 or BRCA2 genes of their genetic risk, of a study population of more than 53,000 patients. The Healthy Nevada Project®, powered by Renown Health and University of Nevada, Reno School of Medicine, is one of the largest genomic studies in the United States. The genomic study is at no-cost for Nevadans and gives participants insight into different genetic traits, as well as results on their predisposition for three prevalent and serious health conditions known as the CDC Tier 1 conditions because of their significant potential to positively impact public health.
Study authors include University of Nevada, Reno School of Medicine, (Daniel Kiser, MS; Gai Elhanhan, MD Iva Neveux, MS; William J. Metcalf, MS; Catherine McCarthy, MD; Leslie A. Greenberg, MD; Joseph J. Grzymski PhD); Helix, Inc. San Mateo, CA (Alexandre Bolze, PhD; Elizabeth T. Cirulli, PhD) and Renown Health, Reno (Savanna Grime, BA; Jamie M. Schnell Blitstein, APRN; William Plauth MD; Joseph J. Grzymski PhD.
For more information on the study, please visit JAMA Network. For a media interview, please contact Dr. Joe Grzymski at news@renown.org.
The Healthy Nevada Project®, led by Renown Institute for Health Innovation (Renown IHI) was launched in September 2016 as one of the first community-based population health studies in the United States. The study has already enrolled, consented and collected DNA from approximately 53,000 participants. Under the program, researchers and physicians are using genetics, environmental data and individual health information to empower providers with a targeted approach to personal health care and treatment, in turn improving the overall health and well-being of people in the local communities.
The University of Nevada, Reno School of Medicine, Nevada’s first public medical school, is a community-based, research-intensive medical school with a statewide vision for a healthy Nevada. Since 1969, UNR Med has trained more than 3,900 students, residents, and fellows. UNR Med continues to improve the health and well-being of all Nevadans and their communities through excellence in student education, postgraduate training and clinical care, research with local, national, and global impact and a culture of diversity and inclusion. For more information, visit med.unr.edu.
Renown Health is the region’s largest, locally governed, not-for-profit integrated healthcare network serving Nevada, Lake Tahoe, and northeast California. With a diverse workforce of more than 7,500 employees, Renown has fostered a longstanding culture of excellence, determination, and innovation. The organization comprises a trauma center, two acute care hospitals, a children’s hospital, a rehabilitation hospital, a medical group and urgent care network, and the locally owned not-for-profit insurance company, Hometown Health. For more information, visit renown.org.
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