Since 2012, ASHG has been a member of the Roundtable on Genomics and Precision Health, a cross-disciplinary convening activity at the National Academies of Sciences, Engineering, and Medicine. In 2020, the Roundtable members committed to the development of a new strategic plan that will guide their work over the next few years. ASHG spoke with the Roundtable co-chairs, Geoffrey Ginsburg, MD, PhD, Director of the Center for Applied Genomics and Precision Medicine and Professor of Medicine and Pathology at Duke University School of Medicine, and Michelle Penny, PhD, Vice President and Head of Genomics at Goldfinch Bio, to learn more about the Roundtable’s future plans toward making genomic medicine a reality for all.
ASHG: The Roundtable has been in existence for over a decade. How has the Roundtable evolved over this time and what do you attribute to its sustainability?
Dr. Ginsburg and Dr. Penny: In 2007, the then Institute of Medicine, now the National Academies of Sciences, Engineering, and Medicine, launched the Roundtable on Translating Genomic-based Research for Health to address the opportunities emerging from The Human Genome Project and its potential impact on health care. The Roundtable is unique in that it brings together a very diverse group of stakeholders including members from government, industry, professional societies and organizations, and patient/participant-focused organizations. In recent years, the membership has evolved further as genetic testing became more widely implemented in clinical care. We have members representing health care systems, consumer genomics companies, and digital health technology companies. In 2016, we expanded our focus to account for the field beginning to explore and adopt digital health technologies (inclusive of sensors, wearables, apps and electronic medical records). The Roundtable has embraced this shift in our focus and membership by updating our identity to the Roundtable on Genomics and Precision Health.
One of the main reasons that the Roundtable has been sustainable is because we are a trusted source of information and harness the collective wisdom of a diverse group of stakeholders to provide thought leadership to the field. Another reason is the field the Roundtable is addressing is so dynamic and with rapid change in technologies, data science and patient-centered care, there are a myriad of issues raised that the Roundtable can and should address to enable the field to achieve its vision. The Roundtable has been a successful model due to its culture of openness, respect, and trust. The National Academies welcomes the members to come together and tackle sensitive, challenging issues in a neutral and unbiased space and to disseminate its work widely.
ASHG: What is the most impactful role of the Roundtable?
Dr. Ginsburg and Dr. Penny: One of the most impactful roles of the Roundtable is bringing together international experts who are focused on addressing important challenges related to genomics and precision health, and who provide reliable insights to those in the field – and disseminating them to the genomics and precision health community so that they get integrated into strategic thinking and make an impact on health. Most frequently, this is accomplished through the development of public workshops, but it can also take the form of perspective papers in the peer-reviewed literature or “action collaboratives” which are forward-thinking, short-term activities that run in parallel to the Roundtable. Some examples of the latter are the Global Genomic Medicine Action Collaborative that transitioned out of the National Academies in 2016 to become a stand-alone not for profit organization, and the DIGITizE Action Collaborative that was assimilated into the FHIR Foundation in 2018. It’s been exciting to be part of a group of experts who think about the leading edge of the field. As a stakeholder working in genomics and precision health, you want to be part of the conversation, to help shape the dialogue, and make an impact.
ASHG: The Roundtable recently developed a new strategic plan. What are the areas that the Roundtable will be focused on in the next 3-5 years? How will they take their next steps and what should we be watching for? Where can the Roundtable make progress more effectively than individual organizations working independently?
Dr. Ginsburg and Dr. Penny: During 2020, the Roundtable developed a new strategic plan to help focus and guide future work. The new vision for the Roundtable is “to realize the full potential of health for all through genomics and precision health”. The phrase ‘for all’ is especially important to us because we recognize the need to achieve equity in both genomics research and clinical care.
The Roundtable’s role is to bring together diverse voices to encourage innovation and actions that foster the wide adoption of and equitable access to the benefits of genomics and precision health.
As the first step in the new plan, the Roundtable organized itself around four priority areas: Innovation, Dialogue, Equity, and Adoption (“IDEA”). The four working groups are already underway, and the Roundtable’s website will be updated as they develop new plans and products. For example, the Equity working group will host educational sessions for its members focused on increasing racial diversity in genetics and genomics training and building a corporate and government commitment to health equity and diversity in the field.
Because the Roundtable can bring together many different voices and perspectives at the National Academies, the group is uniquely positioned as a neutral convener to help address some of the major challenges facing the fields of genomics and precision health today. It is this unique non-partisan space that allows many groups, like ASHG, to have a broader voice than any one group can have on its own.
ASHG: One area that the Roundtable plans to focus on is diversity, equity, and inclusion (DEI). Why do you think this it is so important for the genomics community to address DEI now, and what progress can the community make in the next few years?
Dr. Ginsburg and Dr. Penny: Issues of diversity, equity, and inclusion (DEI) have long been an incredibly important topic not only for the genomics community, but the entire biomedical research enterprise. Years ago the Roundtable recognized that DEI presents a unique and critical challenge for the genetics and genomics communities and highlighted those issues through activities such as our 2018 workshop, Understanding Disparities in Access to Genomic Medicine, and our 2019 workshop, Exploring the Current Landscape of Consumer Genomics. As part of our new strategic plan Roundtable members made formal commitment to examining and addressing DEI issues.
One of the four new working groups has been charged with “achieving equity in genomics and precision health.” While this is a monumental task, the group is energized and committed around their goal. They are focused on finding concrete steps toward action that will address underrepresentation and inequities in genomic research, workforce, and access to genomic services. The research agenda will focus on diverse representation in the data being used to develop models of risk, diagnosis, and prognosis. The clinical agenda will focus on equity of access, with a focus on genomic testing and digital health technologies. The workforce agenda will focus on ensuring that underserved and underrepresented minorities are given opportunities to be the researchers, health care workers and leadership of genomics and precision health in the decades to some.
ASHG: How can the genetics and genomics research community keep abreast of, or participate in, the Roundtable’s activities?
Dr. Ginsburg and Dr. Penny: Members of the genomics research community are encouraged to actively engage and participate in the Roundtable’s activities. The first step is to visit the Roundtable website for updates and sign up for the Roundtable email listserv. We strongly encourage proactive participation in our public workshops as a great way to stay abreast and contribute to the conversations on important issues that are shaping our field. Workshops are announced through the listserv and website. Other specific projects often present new opportunities for engagement including serving as a speaker, reviewer, or writer. Reaching out by email to the Roundtable co-chairs or director is a great way to share your interest in our activities. You don’t have to be a member of the Roundtable to participate in the planning of our workshops or support the activities of the working groups.