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Renown Health and the University of Nevada, Reno School of Medicine give the gift of early diagnosis and disease prevention this holiday season.   With the season of giving upon us, give yourself the gift of health. The Renown Institute for Health Innovation (IHI) and the University of Nevada, Reno School of Medicine (UNR Med) are excited to offer a free Enhanced Liver Fibrosis (ELFTM) test to patients at risk for a common type of liver disease, e.g. metabolic and nonalcoholic steatohepatitis (M/NASH), and who enroll or are currently enrolled in the Healthy Nevada Project. The ELF Test is an FDA (Food and Drug Administration) approved non-invasive test to help identify people most at risk for liver scarring, e.g. cirrhosis, and allows doctors to intervene before irreversible damage occurs. If undetected and untreated, M/NASH can result in liver cirrhosis which could require liver transplantation or lead to death. This test is important as the symptoms of M/NASH can be silent or non-specific, making it difficult to diagnose.  “There are currently more than 11,000 people across the U.S. on the national liver transplant waiting list, and with the heightened prevalence of NAFLD and M/NASH, this number is projected to keep rising; however, with research such as the ELF Test at our disposal, we are continuing to find ways to improve the health of those at risk for advanced liver disease,” said Bill Plauth, MD, Chief Medical Officer for Renown Health and Associate Dean of Clinical Affairs at UNR Med. “We encourage our community to participate in this early risk detection. Through this sophisticated, noninvasive, blood test, our physicians and Advanced Practice Providers can better evaluate liver fibrosis to help those affected and enable researchers to improve the prevention and treatment of nonalcoholic liver disease as a whole.”  This liver health-focused sub-study of the Healthy Nevada Project seeks to enhance the understanding of both NAFLD and M/NASH and to help inform the development of treatment options for these conditions, as few currently exist. “Providing access to cutting-edge innovations such as the ELF Test is critical for both participants and the physicians and advanced practice providers that care for them.” said Joseph Grzymski, PhD, principal investigator of the Healthy Nevada Project and the Liver Disease Study and research professor at UNR Med. Those interested in determining their risk for M/NASH and its progression are encouraged to enroll in the Metabolic & Nonalcoholic Steatohepatitis study. Those who have consented and participated in the M/NASH research will be eligible and contacted with more information on how to receive the ELF Test. The Renown IHI is also happy to connect with physicians and Advanced Practice Providers interested in having their patients enroll in the Healthy Nevada Project and join the study. For members of the community who would like more information and learn how to enroll, please contact the Renown IHI at RenownIHI@renown.org or (775) 982-6914 to be connected to a Genomic Representative. About the ELF™ Test  The ELF Test is a noninvasive blood test that can quickly identify which patients are at an elevated risk for developing cirrhosis and other liver-related clinical events (LREs). In contrast to standard liver enzyme tests that reflect liver damage that has already occurred, the ELF Test combines three serum direct biomarkers of active fibrosis. The ELF Test algorithm measures each of these biomarkers to create an ELF score, which can be used as an aid to assess the risk for future disease progression. Doctors may use this ELF score to help evaluate if a patient requires increased medical care and monitoring for their condition. Individuals interested in determining their risk for NASH and its progression are encouraged to enroll in the Nonalcoholic Steatohepatitis Liver Disease Genome Atlas study. Those who have already consented and participated in the study will be contacted with more information on how to receive an ELF blood test. Para obtener más información o para inscribirse, comuníquese a la casilla de correo RenownIHI@renown.org o al teléfono (775) 982-6914. In the U.S., the ELF Testing Service is available from Brio Clinical, Inc., a CLIA-certified laboratory offering specialized testing throughout the United States. Brio Clinical is regulated under CLIA as qualified to perform high complexity testing.

Leer más About Give the Gift of Health This Season with ELF Testing

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. Con una fuerza laboral diversa de más de 7,000 empleados, Renown ha fomentado una cultura de excelencia, determinación e innovación de larga data. La organización se compone de un centro de urgencias, dos hospitales de cuidados agudos, un hospital infantil, un hospital de rehabilitación, un grupo médico y una red de atención de urgencias y Hometown Health, la compañía de seguros sin fines de lucro más grande de la región y de propiedad local, 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. Acerca de Helix Helix es la compañía líder en genómica y vigilancia viral de la población cuyas operaciones se basan en el cuidado clínico, la investigación y el análisis de datos. 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.

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

Burning Man is an annual event inspired by the values reflected in the Ten Principles and united in the pursuit of a more creative and connected existence in the world. As over 70,000 congregate this week, between Aug. 27 to Sept. 4, in the high altitudes of the hot and windy Black Rock Desert, Renown Health’s emergency and clinical care teams are ready to care for Burners who may find themselves ill and in need of additional urgent, emergent care or hospitalization. This year, people from across the world are expected to make the journey in RVs and cars brimming with tents, food, water, artwork, and costumes, temporarily turning Black Rock into the state’s third largest city. “The Burning Man Project has done an excellent job preparing participants to have a safe, healthy, and wonderful time building Black Rock City and living on the playa for nine days to nurture the distinctive culture emerging from that experience. However, bringing over 70,000 people together in a high altitude, desert environment with limited access to water, food, and sanitary conditions- always presents a challenge,” says Brian Erling, MD, MBA, president and CEO of Renown Health and an experienced emergency medicine physician. “Having excellent care on the playa and plans in place back here in Reno helps to mitigate that risk and ensure the health and safety of all participants.” “We welcome every Burner to northern Nevada,” says Bret Frey, MD, the board-certified emergency medicine physician who heads up the largest Emergency Department at Renown Regional Medical Center; which has the highest-level trauma center for 100,000 miles, located in Reno, NV. Dr. Frey has 23 years of experience in the medical field, and 23 years of experience treating people who have experienced Burning Man. “Burning Man is a fascinating event, and most people have a great time. However, if things go wrong, they are fortunate to have the BlackRock City Emergency Services Department, 24/7, to help. Back here in Reno, we serve as their ‘back up,’ providing care as needed, for the ill and injured and supporting clinical teams when they’re feeling overwhelmed.” Renown Health ofrece tres 24/7 Salas de Emergencia que brindan el más alto nivel de atención de emergencia y trauma en la región. Renown Regional Medical Center Es el único Centro de Trauma de Nivel II entre Sacramento y Salt Lake City. Located near downtown Reno, this Emergency Room has several helipads and ambulance banks for patients requiring emergency and trauma care. Renown Children’s Hospital at Renown Regional Medical Center is home to the only Pediatric Emergency Room  in the region designed just for kids. This location is staffed by pediatric specialists and provides child-sized equipment and family-friendly areas. Renown South Meadows Medical Center Incluye el primer24/7 Sala de Emergencia. Located just off I580, this location is designed to treat patients who need immediate attention for emergencies.  These locations are designed to assess and care for emergency situations, including: Heart attack symptoms Stroke symptoms Broken bones Shortness of breath Seizures Severe bleeding Head injuries Chest pains Severe pain Venomous stings and bite All of Renown’s emergency rooms are staffed by Northern Nevada Emergency Physicians, including pediatric specialists and physicians who have completed fellowship training in specialty areas such as sports medicine, ultrasound and emergency medical services. A few interesting medical conditions (Playa Foot and Playa Lung), are associated with Burning Man. The Black Rock Desert in northwestern Nevada is part of the lakebed of the ancient Lake Lahontan, a deep lake that existed 15,000 years ago. Lake Lahontan left fine sediments on the lake bottom to form the extremely flat surface. Playa dust is made of both larger and smaller particulate matter. The Playa dust is in the air, on the ground, and on everything in Black Rock City. People combat the dust with masks, bandannas, and colorful respirators to keep the chalky dust out of their mouths and nostrils, but the effort is often futile. Playa Foot is a malady unique to the Black Rock Desert caused by the alkali dust that makes up the desert. It is, in essence, a chemical burn. The best prevention is keeping feet covered as much as possible, applying a moisturizing skin lotion before bed and wearing socks and closed shoes each day on the playa. “Playa Lung, where the particulate is breathed into the lungs, may cause coughing, throat pain and loss of voice in the short-term,” says William Graham, MD, a specialist in Pulmonary Medicine and Critical Care Medicine at Renown Health. “The dust can cause health issues for smokers, children and elderly and people with pre-existing conditions like asthma and COPD. The best prevention is to get a mask that’s comfortable with n99 filters, wear the mask as much as possible and change the filters often. Be sure to drink lots of water and take protection from windstorms. A doctor visit is recommended if any effects of breathing in dust persist beyond a week or two.” Dr. Derek Beenfeldt is the Chief Medical Officer for Renown’s not-for-profit insurance arm HometownHealth, and has been a frequent participant in the Burning Man experience over the years. In the interest of wanting every person to have a wonderful experience while here- especially since over half of the participants live outside the U.S. health care system, he reminds people of the number of free and low-cost on-site health care and testing resources provided on the playa at Black Rock City. “It is important for Burning Man participants to know that without US health care insurance coverage, the costs can be significant for transportation off the playa for a medical evacuation, hospital emergency department care or hospitalization. Even for people who have insurance, in the past, some have faced some significant out-of-pocket expenses for the flight or transportation to Reno-area hospitals or emergency departments.” He shares the following information; On Site Medical Response A community of EMTs, paramedics, nurses, medical students, and physicians are on site at Black Rock City in RVs to provide emergency response and urgent care to participants as needed. Local Hospital Response Since 2011, the Burning Man organization, has contracted with Humboldt General Hospital in Winnemucca, Nev., to staff and equip Rampart Urgent Care, a field hospital that offers X-rays, ultrasounds, a hand-held head scanner, lab tests and a pharmacy. The single-room wooden structure is easily seen- it is painted pink and yellow. The hospital’s 40 beds are located in adjoining tents. At Rampart, when possible, patients are treated on site. EMTs, medics and nurses are empowered to practice medicine to the fullest ability their licensing and credentialing allow. Patients are not charged for Rampart Urgent Care services, which is covered as part of their ticket fee. The Nevada State Health Division, Bureau of Health Protection Services is also on the playa. You will know them by the Nevada State Health Division logo on their shirts. All Renown’s physicians remind people that if they are experiencing symptoms of a heart attack or stroke, they should go to the closest emergency room (ER) to get needed medical care. Delaying care for a medical emergency, such as a heart attack or stroke, can be life threatening or lead to serious complications. 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. La organización se compone de un centro de urgencias, dos hospitales de cuidados agudos, un hospital infantil, un hospital de rehabilitación, un grupo médico y una red de atención de urgencias y Hometown Health, la compañía de seguros sin fines de lucro más grande de la región y de propiedad local, Hometown Health. Visite renown.org para obtener más información.

Leer más About As 70,000+ People Congregate for Burning Man, 100 Miles Northeast of Reno, Renown Health’s Emergency Teams and Hospitals Prepare to Serve

Lanzada en asociación con el Desert Research Institute, una nueva investigación del proyecto Healthy Nevada Project® determina que un diagnóstico confirmado no siempre produce cambios en el cuidado del paciente. El hecho de entregar a las personas información de salud que pueda cambiar sus vidas no garantiza que las personas, o sus proveedores de atención médica, actuarán en consecuencia. La educación de seguimiento y las conversaciones sobre los planes de cuidado ejecutables con los pacientes y sus médicos son los próximos pasos clave, de acuerdo con la nueva investigación del Healthy Nevada Project. El Healthy Nevada Project es un proyecto de investigación y detección genética que se lanzó en 2016 como una asociación entre DRI y Renown Health. El proyecto ahora tiene más de 50,000 participantes y cuenta con secuenciación genética proporcionada por Helix. Entre septiembre de 2018 y septiembre de 2020, el Healthy Nevada Project notificó exitosamente a 293 participantes que estaban genéticamente en riesgo de desarrollar cáncer de pecho y ovario, síndrome de Lynch o hipercolesterolemia familiar hereditarios, tres afecciones genéticas comunes conocidas colectivamente como afecciones de Nivel 1 de los Centros para el Control y la Prevención de Enfermedades (Centers for Disease Control and Prevention, CDC). En un estudio publicado hoy en Frontiers in Genetics, los científicos del Healthy Nevada Project analizaron qué impacto tuvo el hecho de notificar a un paciente sobre un resultado positivo para una condición de Nivel 1 de los CDC en el cuidado que recibió el paciente en los meses y años posteriores. Según sus resultados, entre los 293 participantes del Healthy Nevada Project que fueron notificados del riesgo genético de desarrollar una afección del Nivel 1 de los CDC, el 71 % de participantes con registros médicos electrónicos compartieron sus hallazgos con los proveedores de atención médica. Sin embargo, solo el 30 % de los registros médicos electrónicos de estos pacientes contenía documentación del diagnóstico genético, y solo el 10 % de los pacientes examinados experimentó un posible cambio en el cuidado después de recibir los resultados de su examen de detección genético. “El Healthy Nevada Project se implementó con un enfoque ‘sin intervención’ en el que los participantes reciben sus hallazgos y deciden con quiénes y cuándo desean compartirlos. Los hallazgos no se agregaron automáticamente a sus registros médicos electrónicos”, explicó el Dr. Gai Elhanan, científico de datos médicos en DRI y coautor del estudio. “Lo que estamos aprendiendo ahora es que para garantizar que los hallazgos genéticos importantes se integren en el régimen de cuidado, es importante que su incorporación en los registros médicos electrónicos forme parte del estudio”. Este estudio se basa en investigaciones anteriores del Healthy Nevada Project publicadas en Nature Medicine. En ellas se demuestra la importancia de realizar exámenes de detección para las afecciones del Nivel 1 de los CDC, las cuales afectan a aproximadamente a 1 de cada 75 personas y se pueden mitigar e incluso se puede evitar que se conviertan en enfermedades cuando se detectan en forma temprana. Este estudio determinó que hasta el 90 % de los casos con afecciones del Nivel 1 de los CDC no son detectados por los proveedores clínicos en las evaluaciones y los exámenes de detección que se realizan durante las visitas de cuidado clínico habitual. Durante el estudio actual, los científicos del Healthy Nevada Project descubrieron que el 19 % de participantes estudiados ya había desarrollado una de las afecciones del Nivel 1 de los CDC y, por lo tanto, podrían haberse beneficiado de una notificación más temprana sobre su afección. El equipo del estudio espera que sus hallazgos estimulen a los residentes de Nevada a obtener pruebas genéticas para estas afecciones relativamente comunes. Incluso si las personas son mayores o ya han sufrido enfermedades relacionadas con estas afecciones, las pruebas también podrían ser beneficiosas para los hermanos, los niños y los nietos que también pueden estar en riesgo y que posteriormente podrían someterse a exámenes de detección en caso de un hallazgo positivo. El equipo del estudio también incita a informar a los proveedores de atención médica sobre la importancia de incorporar diagnósticos genéticos en las recomendaciones farmacéuticas (por ejemplo, para la hipercolesterolemia familiar) y de tratamiento a los pacientes. “Como resultado de este análisis, los médicos de Renown Health y los investigadores del Healthy Nevada Project han logrado cambios significativos, lo que incluye la obtención del consentimiento informado de los participantes para incorporar hallazgos positivos de sus informes genéticos directamente en su registro médico electrónico”, explicó Daniel Kiser, M.S., científico auxiliar de investigación de ciencia de datos en DRI y coautor del estudio. “Esto ayudará tanto a los participantes como a sus proveedores de cuidado clínico, y a todo el estado a maximizar los beneficios a largo plazo de los exámenes de detección genéticos voluntarios basados en la población del Healthy Nevada Project”. Información adicional: El texto completo del estudio, Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record, está disponible en 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. Este proyecto fue financiado por Renown Health, fundación de Renown Health y la Oficina de Desarrollo Económico del Gobernador de Nevada. Entre los autores del estudio se incluyen Gai Elhanan (DRI), Daniel Kiser (DRI), Iva Neveux (DRI), Shaun Dabe (Renown Health), Alexander Bolze (Helix), William Metcalf (DRI), James Lu (Helix) y Joseph Grzymski (DRI/Renown Health). Para obtener más información sobre el Healthy Nevada Project® o para solicitar un examen de detección genético, visite: https://healthynv.org/ Acerca del DRI El Desert Research Institute (DRI) es un reconocido líder mundial en investigación ambiental básica y aplicada. Comprometidos con la excelencia e integridad científicas, el cuerpo docente del DRI, los estudiantes que trabajan juntos y el personal han desarrollado conocimientos científicos y tecnologías innovadoras en proyectos de investigación en todo el mundo. Desde 1959, la investigación de DRI ha profundizado el conocimiento científico sobre temas que van desde el impacto de los seres humanos en el medioambiente hasta el impacto del medioambiente en los seres humanos. Los hallazgos científicos impactantes y las soluciones inspiradoras del DRI apoyan la economía diversa de Nevada, proporcionan oportunidades educativas basadas en la ciencia e informan a legisladores, líderes empresariales y miembros de la comunidad. El DRI tiene campus en Las Vegas y Reno y funciona como el grupo de investigación sin fines de lucro del Sistema de Educación Superior de Nevada. Para obtener más información, visite www.dri.edu. Acerca de Renown Health Renown Health es la red de atención médica integrada de administración local y sin fines de lucro más grande de la región, que presta servicios a Nevada, Lake Tahoe y el noreste de California. Con una fuerza laboral diversa de más de 7,000 empleados, Renown ha fomentado una cultura de excelencia, determinación e innovación de larga data. La organización se compone de un centro de urgencias, dos hospitales de cuidados agudos, un hospital infantil, un hospital de rehabilitación, un grupo médico y una red de atención de urgencias y Hometown Health, la compañía de seguros sin fines de lucro más grande de la región y de propiedad local, Hometown Health. Actualmente, Renown está inscribiendo participantes en el estudio genético de salud poblacional basado en la comunidad más grande del mundo, el Healthy Nevada Project®. Visite renown.org para obtener más información. Acerca de Helix Helix es la compañía líder en genómica y vigilancia viral de la población cuyas operaciones se basan en el cuidado clínico, la investigación y el análisis de datos. Helix permite que los sistemas de salud, las empresas de ciencias biológicas, los pagadores y los socios gubernamentales aceleren la integración de los datos genómicos en el cuidado médico del paciente y en la toma de decisiones de salud pública. Obtenga más información en www.helix.com.

Leer más About Un estudio demuestra la importancia de garantizar el seguimiento del participante y del proveedor después de obtener el resultado de un examen de detección genético

El enfoque basado en la comunidad del Healthy Nevada Project revela que hasta un 90 % de los riesgos de padecer afecciones genéticas de Nivel 1 de los CDC no se detecta cuando se usan pautas de atención clínica. In a new study published today in the journal Nature Medicine, researchers behind the Healthy Nevada Project® suggest that community-based genetic screening has the potential to efficiently identify individuals who may be at increased risk for three common inherited genetic conditions known to cause several forms of cancer and increased risk for heart disease or stroke. En 2018, el Healthy Nevada Project® (el mayor estudio de salud poblacional basado en la comunidad que combina datos genéticos, clínicos, ambientales y sociales) comenzó a notificarles a los participantes del estudio que habían dado su consentimiento sobre ciertas variantes genéticas que los predisponían a padecer las afecciones genéticas de Nivel 1 de los Centros para el Control y la Prevención de Enfermedades (Centers for Disease Control and Prevention, CDC). The study focused on identifying carriers of these conditions, which include Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia, because they are the most common conditions and early detection and treatment could significantly lower morbidity and mortality. Los resultados iniciales de casi 27,000 participantes del estudio mostraron que el 90 % de los portadores de las afecciones genéticas de Nivel 1 de los CDC no había sido previamente identificado en un entorno clínico. The authors conclude that population genetic screening would identify at-risk carriers not identified during routine care. “Our first goal was to deliver actionable health data back to the participants of the study and understand whether or not broad population screening of CDC Tier 1 genomic conditions was a practical tool to identify at-risk individuals,” explained Joseph Grzymski, Ph.D., the principal investigator of the Healthy Nevada Project®, a research professor at the Desert Research Institute (DRI), chief scientific officer for Renown Health and lead author of the study. “Now, two years into doing that, it is clear that the clinical guidelines for detecting risk in individuals are too narrow and miss too many at risk individuals.” Del grupo de 26,906 participantes del Healthy Nevada Project® que el equipo de investigación de Grzymski estudió, 358 (el 1.33 %) eran portadores de afecciones de Nivel 1 de los CDC. Sin embargo, solo el 25 % de esas personas cumplían las pautas clínicas para realizarse exámenes de detección genética. Además, más del 20 % de los portadores ya tenía un diagnóstico de enfermedad relacionada con la afección genética subyacente. “We’re at a point now where it’s possible to do clinical-grade genetic screening at population-scale,” added James Lu, M.D. Ph.D., co-founder and chief scientific officer of Helix and senior co-author of the study. “What this study demonstrates is the potential impact of doing so. By making genetic screening available more broadly, we can help the millions of Americans who are unaware that they are living at increased risk for highly actionable, genetic conditions take action.” En particular, el estudio descubrió que de los 273 participantes que eran portadores de las afecciones genéticas de Nivel 1 de los CDC y que tenían información de registros clínicos, solo 22 personas mostraron sospechas previas de tener estas afecciones genéticas subyacentes. “For the first time, we are providing information at the individual level so study participants can make lifesaving changes to reduce their risk based on their genetics,” said Anthony Slonim, M.D., Dr.PH., FACHE, president and CEO of Renown Health and co-director of the Project® study. “We’re conducting research on the community level to develop leading-edge research on health determinants for entire neighborhoods, states and eventually, the country. Returning these results allows us to understand the prevalence of genetically programmed diseases and illnesses that we have here in Nevada and ensure we are providing the best prevention and care plans. For the individual, the return of results can be life changing.” According to the CDC, early detection and intervention of the Tier 1 genetic conditions could have a meaningful potential for clinical action ability and a positive impact on public health. El Healthy Nevada Project®, que se lanzó en 2016, ofrece pruebas genéticas gratuitas a todos los residentes de Nevada, mayores de 18 años, interesados en obtener más información sobre su salud y perfil genético. Con más de 50,000 participantes del estudio inscritos en cuatro años, el Healthy Nevada Project® se ha convertido en el estudio genético de más rápida inscripción del mundo. For more about the Healthy Nevada Project® please visit healthynv.org     Renown Institute for Health Innovation is a collaboration between Renown Health – a locally governed and locally owned, not-for-profit integrated healthcare network serving Nevada, Lake Tahoe and northeast California; and the Desert Research Institute – a recognized world leader in investigating the effects of natural and human induced environmental change and advancing technologies aimed at assessing a changing planet. Renown IHI research teams are focused on integrating personal healthcare and environmental data with socioeconomic determinants to help Nevada address some of its most complex environmental health problems; while simultaneously expanding the state’s access to leading-edge clinical trials and fostering new connections with biotechnology and pharmaceutical companies. Learn more at Healthynv.org. Helix is the leading population genomics company operating at the intersection of clinical care, research, and genomics. Its end-to-end platform enables health systems, life sciences companies, and payers to advance genomic research and accelerate the integration of genomic data into clinical care. Powered by one of the world's largest CLIA / CAP next-generation sequencing labs and its proprietary Exome+Ⓡ assay, Helix supports all aspects of population genomics including recruitment and engagement, clinically actionable disease screening, return of results, and basic and translational research. In response to the COVID-19 public health crisis, Helix has launched a sensitive and scalable end-to-end COVID-19 test system to meet the needs of health systems, employers, governments, and other organizations across the country. Obtenga más información en www.helix.com.

Leer más About Los exámenes de detección genética poblacionales demuestran que identifican de manera eficiente un aumento en el riesgo de padecer enfermedades hereditarias