Search

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.

Read More About Study From UNR Med and Renown in JAMA Network Open Highlights Gaps in Genetic Screening for Hereditary Breast and Ovarian Cancer

Study shows that many household wells need better drinking water treatment and monitoring Outside of Nevada’s bustling cities, private wells are the primary source of drinking water, serving 182,000 people. Yet some of the tested private wells in Nevada are contaminated with levels of heavy metals that exceed federal, state or health-based guidelines, a new study published in Science of The Total Environment shows. Consuming water contaminated by metals such as arsenic can cause adverse health effects. Scientists from DRI and the University of Hawaii Cancer Center recruited households with private wells through the Healthy Nevada Project. Households were sent free water testing kits, and participants were notified of their water quality results and recommended actions they could take. More than 170 households participated in the research, with the majority from Northern Nevada around Reno, Carson City and Fallon. “The goals of the Healthy Nevada project are to understand how genetics, environment, social factors, and healthcare interact. We directly engaged our participants to better understand environmental contaminants that may cause adverse health outcomes,” said co-author Joseph Grzymski, PhD, research professor at DRI, principal investigator of the Healthy Nevada Project®, and chief scientific officer for Renown Health. Nearly one-quarter (22%) of the private wells sampled had arsenic that exceeded safe levels determined by the Environmental Protection Agency (EPA) — with levels 80 times higher than the limit in some cases. Elevated levels of uranium, lead, cadmium, and iron were also found. “We know from previous research that Nevada’s arid climate and geologic landscape produce these heavy metals in our groundwater,” says Monica Arienzo, PhD, an associate research professor at DRI who led the study. “It was important for us to reach out to community members with private wells to see how this is impacting the safety of their drinking water.” Fewer than half (41%) of the wells sampled used water treatment systems, and some treated water samples still contained arsenic levels over EPA guidelines. Although average levels of heavy metal contaminants were lower in treated water, many homes were unable to reduce contaminants to levels considered safe. The state leaves private well owners responsible for monitoring their own water quality, and well water testing helps ensure water is safe to drink. This study shows that more frequent testing is needed to ensure Nevada’s rural communities have safe drinking water. This is particularly important as the effects of climate change and population growth alter the chemistry of groundwater, potentially increasing metal concentrations. “The results emphasize the importance of regular water quality monitoring and treatment systems,” said co-author Daniel Saftner, MS, assistant research scientist at DRI. Although the research focused on wells in Nevada, other arid communities in Western states are facing similar risks of water contamination. More information: The full study, Naturally Occurring Metals in Unregulated Domestic Wells in Nevada, USA, is available from Science of The Total Environment: doi.org/10.1016/j.scitotenv.2022.158277. This project was funded by an NIH award (#1R01ES030948-01). The Healthy Nevada Project was funded by grants from Renown Health and the Renown Health Foundation. Study authors included Monica M. Arienzo (DRI), Daniel Saftner (DRI), Steven N. Bacon (DRI), Erika Robtoy (DRI), Iva Neveux (DRI), Karen Schlauch (DRI), Michele Carbone (University of Hawaii Cancer Center) and Joseph Grzymski (DRI/Renown Health). About DRI The Desert Research Institute (DRI) is a recognized world leader in basic and applied environmental research. Committed to scientific excellence and integrity, DRI faculty, students who work alongside them, and staff have developed scientific knowledge and innovative technologies in research projects around the globe. Since 1959, DRI’s research has advanced scientific knowledge on topics ranging from humans’ impact on the environment to the environment’s impact on humans. DRI’s impactful science and inspiring solutions support Nevada’s diverse economy, provide science-based educational opportunities, and inform policymakers, business leaders, and community members. With campuses in Las Vegas and Reno, DRI serves as the non-profit research arm of the Nevada System of Higher Education. For more information, please visit dri.edu. About Renown Health Renown Health is Nevada’s largest, not-for-profit integrated healthcare network serving Nevada, Lake Tahoe, and northeast California. With a diverse workforce of more than 6,500 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. Renown is currently enrolling participants in a community-based genetic population health study, the Healthy Nevada Project®. About the University of Hawaiʻi Cancer Center The University of Hawaiʻi Cancer Center through its various activities, including scientific research and clinical trials, adds more than $57 million to the Oʻahu economy. It is one of only 71 research institutions designated by the National Cancer Institute. An organized research unit within the University of Hawaiʻi at Mānoa, the UH Cancer Center is dedicated to eliminating cancer through research, education, patient care and community outreach with an emphasis on the unique ethnic, cultural, and environmental characteristics of Hawaiʻi and the Pacific. Learn more at https://www.uhcancercenter.org. Like us on Facebook at facebook.com/UHCancerCenter. Follow us on Twitter @UHCancerCenter.

Read More About Elevated Levels of Arsenic and Other Metals Found In Nevada Private Wells

Released in partnership with the Desert Research Institute: New research from the Healthy Nevada Project® finds that a confirmed diagnosis does not always result in changes to patient care. Presenting individuals with potentially life-altering health information doesn’t mean the individuals – or their healthcare providers – will act on it. Follow-up education and conversations about actionable care plans with patients and their doctors are key next steps, according to new research from the Healthy Nevada Project.  The Healthy Nevada Project is a genetic screening and research project that launched in 2016 as a partnership between DRI and Renown Health. The project now has more than 50,000 participants, with genetic sequencing provided by Helix.  Between September 2018 and September 2020, the Healthy Nevada Project successfully notified 293 participants that they were genetically at risk for hereditary breast and ovarian cancer syndrome, Lynch syndrome, or familial hypercholesterolemia – three common genetic conditions known collectively as the Centers for Disease Control and Prevention (CDC) Tier 1 conditions. In a study published today in Frontiers in Genetics, Healthy Nevada Project scientists looked at the impact that notifying a patient of a positive finding for a CDC Tier 1 condition had on the care that the patient received in the months and years that followed.  According to their results, among the 293 Healthy Nevada Project participants who were notified of their genetic risk of a CDC Tier 1 condition, 71 percent of participants with electronic health records shared their findings with healthcare providers. However, only 30 percent of the electronic health records for these patients contained documentation of the genetic diagnosis, and only 10 percent of examined patients experienced a possible change in care after receiving the results of their genetic screening.  “The Healthy Nevada Project was implemented with a ‘hands-off’ approach where the participants receive their findings and decide with whom and when to share those findings. The findings were not automatically added to their electronic health records,” said Dr. Gai Elhanan, health data scientist at DRI and co-lead author of the study. “What we’re learning now is that to ensure that important genetic findings are integrated into the care journey it is important to make their inclusion into the electronic health records part of the study.” This study builds on previous Healthy Nevada Project research published in Nature Medicine demonstrating the importance of screening for CDC Tier 1 conditions, which affect about one in 75 individuals and can be mitigated or even prevented from developing into disease when detected early. This study found that as many as 90 percent of the CDC Tier 1 cases are missed by clinical providers during normal clinical care screenings and examinations. During the current study, the Healthy Nevada Project scientists found that 19 percent of studied participants had already developed one of the CDC Tier 1 conditions, and thus would have potentially benefited from earlier notification about their condition. The study team hopes that their findings will encourage individuals in Nevada to obtain genetic testing for these relatively common conditions. Even if individuals are older or have already suffered from diseases related to these conditions, testing could also prove beneficial to siblings, children, and grandchildren who may also be at risk and who could subsequently be screened in the event of a positive finding. The study team also encourages informing health care providers of the importance of incorporating genetic diagnoses into the pharmaceutical (for example, for Familial Hypercholesterolemia) and treatment advice given to patients.  “As a result of this analysis, the clinicians at Renown Health and the Healthy Nevada Project researchers have made significant changes, including obtaining informed consent from participants to report positive findings from their genetics reports directly into their electronic medical record,” said Daniel Kiser, M.S., assistant research scientist of data science at DRI and co-lead author of the study. “This will help both participants, their clinical providers, and the whole state maximize the long-term benefits of the Healthy Nevada Project voluntary population-based genetic screening.” Additional information: The full text of the study,  Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record, is available from Frontiers in Genetics: https://www.frontiersin.org/articles/10.3389/fgene.2022.866169/full?&utm_source=Email_to_authors_&utm_medium=Email&utm_content=T1_11.5e1_author&utm_campaign=Email_publication&field=&journalName=Frontiers_in_Genetics&id=866169.  This project was funded by Renown Health, the Renown Health Foundation, and the Nevada Governor’s Office of Economic Development. Study authors included Gai Elhanan (DRI), Daniel Kiser (DRI), Iva Neveux (DRI), Shaun Dabe (Renown Health), Alexander Bolze (Helix), William Metcalf (DRI), James Lu (Helix), and Joseph Grzymski (DRI/Renown Health). For more information on the Healthy Nevada Project® or to request genetic screening, please visit: https://healthynv.org/ About DRI The Desert Research Institute (DRI) is a recognized world leader in basic and applied environmental research. Committed to scientific excellence and integrity, DRI faculty, students who work alongside them, and staff have developed scientific knowledge and innovative technologies in research projects around the globe. Since 1959, DRI’s research has advanced scientific knowledge on topics ranging from humans’ impact on the environment to the environment’s impact on humans. DRI’s impactful science and inspiring solutions support Nevada’s diverse economy, provide science-based educational opportunities, and inform policymakers, business leaders, and community members. With campuses in Las Vegas and Reno, DRI serves as the non-profit research arm of the Nevada System of Higher Education. For more information, please visit www.dri.edu. About Renown Health 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 7,000 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 world’s largest community-based genetic population health study, the Healthy Nevada Project®. For more information, visit renown.org. 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 www.helix.com.

Read More About Study Shows Importance of Ensuring Participant and Provider Follow-up After a Genetic Screening Result