• HealthyNV Project
  • Genetic
  • Cancer Care
  • Screening
  • University of Nevada, Reno

Research Shows Genetic Approaches to Breast Cancer Screenings Yield More Accurate Results

March 06, 2024

Renown and UNR School of Medicine Logo

Clinical researchers with the Healthy Nevada Project co-author research paper with findings that emphasize the need for a comprehensive approach to breast cancer risk assessment – including a focus on genetic medicine – to help ensure that individuals at high risk are identified and supported proactively rather than reactively. 

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 39 women will die from breast cancer. Breast cancer is associated with increased age, hereditary factors, obesity, and alcohol use. Since 1990, breast cancer death rates have declined progressively due to advancements in treatment and detection. In Nevada there are an estimated 2,310 new breast cancer cases a year, and genetic mutations such as in the genes BRCA1 or BRCA2 remain a top risk factor for this prevalent disease.

Recognizing the urgency for progress in breast cancer research, a collaborative effort between physicians, advanced practice providers and scientists from the Healthy Nevada Project® (HNP) and Helix have unveiled groundbreaking research. This study explores how genetic screenings are a necessary supplement to traditional testing methods, together offering more accurate insights into a patient's likelihood of developing breast cancer in the future.

HNP is operated by Renown Genomic Medicine and the Institute for Health Innovation and is one of the largest community-based population health studies in the country. Their team works in collaboration with Helix, a leader in precision health that delivers comprehensive genomic solutions. Together, this dynamic partnership aims to understand breast cancer risk factors and pave the way for more effective preventative measures.

The combined research team studied 25,591 female HNP participants to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer. The results of this research suggest that a combined monogenic, or single-gene, and polygenic, or multi-gene, approach to breast cancer screenings helped produce more accurate results and more closely identify study participants who have a high genetic risk of developing the disease.

"Based on this research, we are advocating a shift in approach which would improve breast cancer risk assessment through a combination of effective family history ascertainment and genetic screening,” said Joseph Grzymski, PhD, principal investigator of the Healthy Nevada Project, research professor at the University of Nevada, Reno School of Medicine and co-author of the breast cancer research paper. “This tailored approach, founded on the assessment of individual genetic risk, not only intends to elevate patient well-being but also will improve efficiency and equity in healthcare."

Complementing the team’s research on leveraging genetics to identify women at low genetic risk of breast cancer that could safely defer mammogram screenings by five to 10 years that was released in late 2023 in JAMA Oncology, the study suggests that incorporating genetic information can assist in personalizing breast cancer screenings and optimizing the use of screening resources.

"Existing disparities persist across various facets of breast cancer screening and treatment; however, genetic screening is clearly a powerful tool to help facilitate early intervention for those at higher risk,” said Jamie Schnell Blitstein, APRN, a primary care nurse practitioner at Renown Health and co-author of the breast cancer research paper. “By placing a heightened focus on risk, we underscore the pivotal role of preventative breast cancer screening.”

Despite the availability of effective methods for early screening, co-authors of this research found that 78 percent of women with a family history of breast cancer had their risk ascertained only after a breast cancer diagnosis. The findings emphasize the need for a comprehensive approach to breast cancer risk assessment – including a focus on genetic medicine – to help ensure that individuals at high risk are identified and supported proactively rather than reactively. 

“These findings that can profoundly impact how healthcare is delivered were only made possible by all the participants who were willing to consent to research,” said Alex Bolze, PhD from Helix and co-author of the publication. “Broad-scale collaboration projects like these between Renown Health and UNR that engage large populations where participants share both their genetic information as well as electronic health records drive advancements in preventative medicine, as well as fundamental biological research.”  

The research paper was officially accepted on Jan. 29, 2024, and will be published by Elsevier, Inc. on behalf of the American College of Medical Genetics and Genomics. The contents of the paper will appear in the international journal Genetics in Medicine Open. Read the full article by visiting sciencedirect.com.

The Healthy Nevada Project is currently recruiting new study participants. Free to all Nevadans with a saliva sample or blood draw, participants and their referring providers receive access to whole-exome sequencing and clinical grade results that help provide insight into their unique genetic risks tied to heart disease and certain cancers. If you are interested in enrolling in the study, schedule a Virtual Consent Appointment through MyChart or contact the Renown Institute for Health Innovation at RenownIHI@renown.org or (775) 982-6914 to be connected to a Genomic Representative.

About Renown Health

Renown Health is the region’s largest, not-for-profit integrated healthcare network serving Nevada, Lake Tahoe and northeast California. With a diverse workforce of more than 7,000 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 region’s largest, locally owned not-for-profit insurance company, Hometown Health. Renown is currently enrolling participants in the largest community-based genetic population health study, the Healthy Nevada Project®. To join the Renown Health team, visit renown.org/careers.

About Helix

Helix is the leading population genomics and viral surveillance company operating at the intersection of clinical care, research, and data analytics. Helix enables health systems, life sciences companies, payers, and government partners to accelerate the integration of genomic data into patient care and public health decision-making. Learn more at helix.com

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Renown Public Relations

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