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Nonalcoholic Liver Disease and Genetics: Is There a Link?
What exactly is the relationship between genetics and disease? Powered by Renown Health, the Healthy Nevada Project is one of the most visible genomic studies in the United States. They are recruiting participants here in northern Nevada to understand the relationship between genetics and nonalcoholic liver disease. Joseph Grzymski, Principal Investigator at the Healthy Nevada Project and Chief Scientific Officer at Renown Health, shares why this study is so important and who should take part. Many people are aware that heavy drinking can lead to liver disease. Yet they are unaware that other types of liver disease are not caused by alcohol consumption. These types of liver disease are more difficult to diagnose but are equally dangerous. What is NASH? A build-up of fat causes nonalcoholic Fatty Liver Disease (NAFLD) in the liver. The most dangerous form is called Nonalcoholic Steatohepatitis (NASH). It causes inflammation and damages liver cells, leading to fibrosis, scarring of the liver, and decreased liver function. If NASH goes untreated, irreversible liver damage can occur, leading to cirrhosis, cancer, or liver failure. These conditions can be fatal. What’s most concerning about NASH is that the symptoms don’t typically cause pain and aren’t noticeable. The good news is that a new local study is raising awareness about this disease by recruiting at-risk people for NASH. Am I at risk for developing NASH? The following factors put you at risk: Obesity Type 2 diabetes Metabolic syndrome High blood lipids, such as cholesterol and triglycerides Does having a family member with nonalcoholic liver disease increase my risk? We do not know a lot about inheriting NASH, although a lot risk factors run in families. One goal of this study is to better understand the genetic component of NASH. There are certainly other risks too, such as environmental and behavioral risk factors. However, we don’t yet have a good grasp on how these impact NASH risk. How is NASH diagnosed? Diagnosis is traditionally done with either a liver ultrasound or biopsy. However, both procedures are expensive and the invasive biopsy has risks. Therefore doctors often use risk factors or less invasive blood tests for diagnosis. This NASH study will include a new blood test called the enhanced liver function (ELF) test. Doctors and researchers have data suggesting that the ELF test is a better diagnostic test for NASH risk. Conducting this cutting-edge test with study participants allows them to share results with their doctors to ensure the best care. What can I do to reduce my NASH risk? Limiting exposure to the risk factors of NASH often lowers risk. Eating a healthy diet, maintaining a recommended weight and exercising regularly can proactively lower your risk.
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How to Fight Cancer that Runs in the Family
Your mother had breast cancer. Your uncle had colon cancer. A cousin has stomach cancer. Could yours be the next name to make the family cancer list? “Possibly,” says Dr. Robert Nathan Slotnick, MD, PhD, Medical Geneticist at Renown Medical Group. In this article, the doctor discusses the genetics behind Lynch syndrome — and how you and your family can fight it. What is Lynch Syndrome? Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is one of the most common genetic conditions known to increase cancer risk in individuals and families. It enables colon and other cancers to develop by causing mutations in mismatch repair (MMR) genes. “The genes MLH1, MSH2, MSH6, PMS2 and EPCAM normally help to repair damaged DNA,” explains Dr. Slotnick. “But when they don’t work properly, naturally occurring DNA replication errors are not repaired efficiently. These errors accumulate and cancer can be the result.” Colon cancer is just one of many possibilities. People with Lynch syndrome also have a higher risk of developing endometrial cancer (cancer of the inside lining of the uterus) as well as cancer of the ovaries, stomach, pancreas, kidney, brain, and bile duct, among others. These syndrome-enabled cancers often appear in patients before the age of 50. Family Cancer Clues The family connection to cancer is a strong one notes the doctor. “Cancer is best considered a genetic disease because it is always tied to changes (or mutations) in our inherited material: our DNA,” says Dr. Slotnick. “These DNA changes cause cells to lose control of their normal constraints on growth and metabolism and can allow abnormalities to develop.” “Although all cancers are genetic,” he adds, “not all cancers are hereditary or passed down through generations.” But because Lynch syndrome IS a hereditary condition, personal and family cancer histories provide invaluable information toward diagnostic confirmation and to a path of surveillance, prevention and treatment. Once a strong family history of cancer is confirmed, doctors and geneticists can move forward with targeted genetic testing to identify specific gene mutations. If Lynch syndrome is diagnosed, testing can also reveal your risk for associated cancers. And your results could be a wake-up call to family members. According to the Centers for Disease Control and Prevention (CDC), close relatives of people with Lynch syndrome have a 50% chance of having similar gene mutations and a higher risk of cancer. The good news is detection and prevention progress is being made. “Lynch is just one of many cancer syndromes where risk is tied to heredity,” explains Dr. Slotnick. “In the last few years, our ability to identify those at risk for this type of cancer predisposition has improved markedly, both in diagnostic accuracy and cost. This allows us to provide aggressive surveillance and prevention choices to individuals and families at risk. Healthier families and lower cost: it’s a win-win.”
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What is the Healthy Nevada Project?
The Healthy Nevada Project (HNP) is one of the most visible genomic studies in the United States, and guess what? Renown Health powers it! The Healthy Nevada Project (HNP) aligns with Renown's goal to do the best for our patients. The genomic study is at no-cost for Nevadans and gives participants insight into different genetic traits, including results on three prevalent and serious health conditions known as CDC Tier 1 conditions. CDC Tier 1 Conditions Include: Hereditary Breast and Ovarian Cancer Syndrome (HBOC) Lynch Syndrome Familial Hypercholesterolemia (FH) Not only does HNP give participants insights into their genetic background, but it also facilitates Renown's ability to study population health. Research lays the foundation for the future of medicine, and Renown's HNP is on the cutting edge of genetic research. We do this by providing skilled researchers access to studies for the diseases that currently have limited treatment, including nonalcoholic steatohepatitis liver disease or NASH. For example, the observational NASH study helps researchers understand genetic links to the disease. Make an Appointment to Get Screened If you haven't already, join the over 55,000 HNP participants and make an appointment to have yourself screened. You can schedule a screening appointment through MyChart. Click “Schedule an Appointment" and select Research Appointment - Genetic Screening. Prior to your appointment, please complete e-Check-in and complete your consent form.
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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.
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Staying Heart-Healthy with Genetic Screening
February is American Heart Month. While cardiac care is crucial every time of year – especially as heart disease stays the number one killer in the United States – American Heart Month serves as a great reminder to stay on top of your heart health. We spoke with Malina Ruiz, a cardiology nurse practitioner at Renown Health, on three key ways to embrace heart-healthy living and how genetic screening can help inform you of certain genetic risks that can play a role on the cardiac life stage. 1. Invest in a heart-healthy diet. Eating a diet that is rich in fruits, vegetables, whole grains and healthy fats (including monounsaturated fats such as avocados and polyunsaturated fats such as sunflower oil) is a key defense in protecting your cardiac health, according to Malina. While you are filling your plate with these nutritious foods, remember to keep an eye on your saturated and trans-fat intake, and try limiting foods that are high in those fats. “No matter what age we are, maintaining a heart-healthy diet will always be important,” said Malina. Need help finding cardiac-friendly meals? The National Heart, Lung and Blood Institute makes it easy with heart-healthy recipes and tips from experts. 2. Do an exercise audit. “Keeping an active lifestyle during our younger years is one of the most important factors that affect heart health in future years,” said Malina. Maintaining a regular exercise regimen that allows you to raise your heart rate and break a sweat can help prevent future cardiac events. A good rule of thumb is to aim for 150 minutes a week of moderate-intensity exercise, which averages out to 30 minutes a day on 5 days out of the week. It’s never too late to start a regular exercise routine! Exercise doesn’t have to be something you dread – leverage American Heart Month to find activities that you enjoy. The American Heart Association can help you discover new ways to move your body. At the end of the day, as Malina emphasizes, “any movement is better than nothing!” 3. Don't skip those check-ups. Regular preventative visits with your primary care provider can help you identify possible risk factors for heart conditions before they start actively affecting your life. “Check-ups become even more important as we age, along with being aware of the signs and symptoms of heart disease, heart attack and stroke,” added Malina. There’s no time better than the present – call our expert scheduling team today at 775-982-5000 to request a preventative check-up with your primary care provider.
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