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Optimizing Mammogram Screenings: A Genetic Approach to a Personalized Screening Schedule
© Arthon Meekodong via Canva.com Breast cancer screening has long been a cornerstone of women's healthcare. With 1 in 8 women diagnosed with breast cancer in their lifetime1, the United States Preventive Services Task Force (USPSTF) has developed screening recommendations to help detect early-stage cancer. Notably in 2023, the USPSTF revised the recommended age for biennial mammogram screenings for women with average risk to start at age 40 instead of 502, estimated to result in 19% more lives being saved3 by starting screening earlier. While initiating screening at an earlier age offers advantages to a wide demographic, concerns about the potential of over-screening prompted research into the feasibility of identifying women with lower breast cancer risk who could safely delay mammograms. While guidelines address high-risk individuals, a notable gap exists in providing recommendations tailored to those at lower risk. To gain insight into a patient's risk level, physicians are able to utilize genetic testing to understand an individual's genetic makeup, providing precise insights into their predisposition to various health conditions, including breast cancer. Armed with this genetic information, healthcare providers could craft tailored screening strategies that align with an individual’s specific risk profile. This genetic risk-based approach underscores the value of genetics in individualizing the onset of screening to help avoid over-screening and its associated costs. Surprisingly, genetic information is not currently being widely utilized to identify women at risk of breast cancer or other diseases in clinical practice, despite its potential to make a significant positive impact for patients. A recent retrospective analysis of 25,591 women from the Healthy Nevada Project4 sheds light on the potential benefits of this genetic risk-based approach. The study classified 2,338 (9.1%) of these women as having a low genetic risk for breast cancer. What's remarkable is that these women exhibited a significantly lower and later onset of breast cancer compared to their average or high-risk counterparts. This finding suggests that it might be safe for low-risk women to delay mammogram screening by 5 to 10 years without compromising their health.
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Elevated Levels of Arsenic and Other Metals Found In Nevada Private Wells
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.
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Taking Control of Her High Cholesterol and Health
In 2018, Jordan Stiteler became a Healthy Nevada Project advocate. Her DNA results revealed that she had Familial Hypercholesterolemia (FH). FH is a genetic condition that can cause high cholesterol. Since then, Jordan’s taken action to lower her cholesterol and make her family aware of this potentially dangerous condition. Read Part I of Jordan’s story Taking Control of High Cholesterol Looking at Jordan, an active young mother, you would never suspect she has high cholesterol. However, because of FH, Jordan’s cholesterol levels are unusually high. She chose to take action when learning of her FH gene, in order to maintain her long-term health. Jordan started by exercising more and eating healthier. “I’ve definitely been checking all the labels to see if the food has a lot of cholesterol, trans fats, or saturated fats,” she explains. She now eats a 100% plant-based diet which helps to lower her cholesterol naturally. Additionally, Jordan partnered with Dr. Michael Bloch, a lipid specialist, to monitor and manage her cholesterol. She told Dr. Bloch that she and her husband were planning on having a second baby. With this in mind, he helped Jordan create a plan to accommodate her pregnancy. Several months after giving birth to her beautiful daughter Logan, it was time to revisit her cholesterol treatment plan. Dr. Bloch prescribed Jordan a statin called Lipitor. It successfully cut her total cholesterol by half in just three months. “I had blood work done in November 2019 and my total cholesterol was 293 (normal is less than 199). I started taking cholesterol medication in February 2020. I had blood work done in June 2020 and my total cholesterol was 149, ” Jordan shares. “My LDLs went from 219 to 78! I am so grateful that the medication worked so well and so quickly! It’s a weight lifted off of my shoulders.” Although Jordan no longer limits herself to a strictly vegan diet, she is mindful of what she eats and how it affects her cholesterol. She’s thrilled that her cholesterol is now at a healthy level!
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Research Shows Genetic Approaches to Breast Cancer Screenings Yield More Accurate Results
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.
