ASHG Advocates Engage with Congress to Share the Importance of Human Genetics and Genomics Research

ASHG hosted its annual virtual Capitol Hill Meetings on May 7-9, 2024. Over the course of the three-day event, members of the Government and Public Advocacy Committee (GPAC) joined current and former trainee advocates from the Advocacy Certificate for Human Genetics and Genomics Trainees (ACGT) program to meet with 15 congressional offices. Meeting with policymakers spreads awareness of and fosters support for the groundbreaking research and discoveries in human genetics research across the country and the advocates’ home states and districts. GPAC Chair, Tony Wynshaw-Boris, MD, PhD recently shared an op-ed in the Cleveland Plain Dealer highlighting the positive impacts of genetics and genomics on the local economy in his hometown of Cleveland, Ohio, as well as on a national scale.

“In spite of the tremendous progress being made in genetics and genomics and biomedical research, we face headwinds that include flat (or even reduced) funding, erosion of historically strong bipartisan support for science, and mistrust of science by the public, among other challenges. We must as scientists engage Congress and the public to ensure that people everywhere realize the benefits of this research.”

Tony Wynshaw-Boris, MD, PhD, GPAC Chair

During meetings with key offices, ASHG advocates shared firsthand accounts and stories of the benefits of human genetics and genomics research, illustrating the importance of Congress’ continued support for human genetics and genomics research and the consequences of underfunding the NIH and the life-saving medical research it supports. ACGT trainee advocates also addressed the integral roles that collaboration and inclusion play throughout the research lifecycle to allow for all to benefit from precision medicine as they discussed topics including diversity in research and data sharing.

Doctoral candidate, Guinevere Spurdens, shared her work on developing gene therapies for inherited neurological and neurodegenerative disorders. In her lab at the University of Miami, computational geneticists benefit from utilizing All of Us Research Program data for sequencing, leading to gene discovery. All of Us is a precision medicine research program at NIH which seeks to recruit one million Americans from all backgrounds to build one of the most diverse genomic databases in history. Recently, using technology like next-generation sequencing (NGS) to analyze genetic data and identify mutations common to these neurodegenerative disorders, Guinevere’s lab discovered a new cerebellar ataxia that impacts many across the U.S. and the world. With support from the NIH, they will now be able to take the next steps to procure gene therapies that will then be tested through clinical trials and hopefully become available to treat patients. In discussing her first-hand account of how NIH-funded programs such as All of Us are improving the diversity of research cohorts, Guinevere shared, “seeing the work being produced and published has made it clear just how important collaboration and responsible data sharing is to make these groundbreaking discoveries that allow for benefits for all people.”

Lydia Rader, PhD candidate at the University of Colorado Boulder, also spoke about how data sharing and collaboration has significantly shaped her work researching the genetic and environmental risks that contribute to chronic pain in children. This research is providing hope for families of up to 15 million kids in the U.S., as crucial questions begin to be solved and physicians and scientists alike begin to rethink what childhood pain really is. About every one in five kids are reporting multisite pain, which can have debilitating effects throughout adolescence and even adulthood. Using the NIH-funded Adolescent Brain Cognitive Development study (ABCD), the largest long-term study of brain development, genetics, and child health in the U.S. and one of the only comprehensive datasets of this size that includes genetics and pain data for kids, Lydia and her lab are taking strides towards answering questions about the genetic underpinnings of adolescent pain, as they begin to find shared genetic risk between older adult chronic conditions, such as rheumatoid arthritis, and young children living with chronic pain.

Mary Hackbarth, an MD/PhD student at the University of Maryland, shared how her passion for integrating human genetics and genomics research into healthcare and bringing discoveries from bench to bedside is enabled through the funding of her combined MD/PhD program as part of the NIH Medical Scientist Training Program. Emphasizing how genetics research benefits everyone, Mary shared how her research on the genetics of vision loss applies to rare diseases, including early-onset inherited retinal dystrophies, and common conditions such as age-related macular degeneration (AMD):

“Genetic research on rare diseases is incredibly important in helping an underserved population of patients, and often breakthroughs in monogenic disease research help inform mechanisms at play in the pathology of much more common diseases. To fully understand genetic influences in these complex common diseases, like AMD, population-wide studies are extremely useful, and are greatly improved by recruiting study participants that reflect the full spectrum of demographic diversity in our population. This not only leads to more responsible and impactful science, but helps increase the likelihood that results identifying genetic risk factors and possible targets of intervention are applicable to all patients.”

Mary Hackbarth, BS

These Capitol Hill Days are a key feature of the ACGT program and are a vital component of ASHG’s spring advocacy efforts. In addition to sharing the Society’s policy priorities through virtual engagement with Congressional staff, ASHG President, Bruce Gelb, MD, submitted outside witness testimony (OWT) to the House and Senate Appropriations Subcommittees on Labor, Health and Human Services, Education, and Related Agencies (LHHS) on behalf of the Society, urging Congress to provide $53.1 billion for NIH’s base budget in Fiscal Year (FY) 2025. This is consistent with the research community’s FY25 funding level recommendations.

ASHG’s Capitol Hill Day was organized by the GPAC as part of the Board-approved Action Plan.