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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.

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