Message from the President: Optimism for the Field and Resilience

By ASHG President Gail Jarvik, MD, PhD

As we move further into 2021 after an extremely challenging year, I want to use my first column as president to focus on reasons for optimism, the demonstrable impact of our field’s research agenda, and the value of our community. To be sure, we continue to mourn and struggle with the terrible impact of COVID-19 on our own health, the wellness of our families and institutions, and the science we pursue. Yet in this time we also see hope in the power of science to solve problems, and ASHG itself has worked hard to be resilient and responsive to your needs as we go through this journey together and using all of this experience to create an exciting path forward for this year.

In an era when people around the world are more engaged with science than ever before, ASHG responded to the global pandemic that dominated headlines last year with resources for members, heightened its commitment to diversity, equity, and inclusion to address systemic change in human genetics and academia, and pursued a wide variety of activities to advance awareness about the benefits of genetics and genomics research. Although the pandemic took much of that work online, the Society embraced virtual connections all year long to carry out its vision: to help “people everywhere realize the benefits of human genetics and genomics research.”

Geneticists worldwide are advancing the field in ways that were unimaginable only a few years ago. Public interest and support for our work is on the rise. We are encouraged by President Joseph Biden’s pledge that Americans of all backgrounds must be included in both the creation and the rewards of science and technology. We are also pleased that the science-interested public around the globe increasingly is beginning to recognize that scientific research is critical for navigating our complex world.

This can be a time when we champion the progress and potential of our field and about what it can do for people around the world. Global collaboration has provided rapid analysis of how human genetic variation contributes to COVID-19 susceptibility. Moreover, there has been real progress made in precision therapies in the treatment of genetic disorders, including cystic fibrosis. In an era invested in the promise of new advancements, this is a success story in which years of genetics research and laboratory investigation came together to help treat and cure this debilitating disorder, which impacts the lungs and pancreas. There are also new therapies on the horizon for Huntington’s disease, a heritable genetic disorder characterized by chorea (tremors), psychiatric problems, and loss of thinking ability. Clinical trials are underway to evaluate the ability of antisense oligonucleotides to treat this devastating condition by “silencing” the mutated HTT allele and prevent the formation of faulty proteins. In essence, geneticists are not just making diagnoses for patients, but changing their outcomes, which is an amazing advancement.

ASHG is here for members and is focused on promoting excellence in human genetics and applications to human health and bringing value to our members around the world. Creating new ways to connect our global community around science continues to remain paramount. We need science to drive decision-making now perhaps more than ever, and the research in which all of you are instrumental is vital to helping ensure scientific knowledge is the foundation guiding important global public health decisions.

With this tenet in mind, there is a new Congress and new Administration, and science is front and center with a Cabinet-level position now at the Office of Science and Technology Policy (OSTP) being recognized as a critical role, as the United States continues to navigate the continued need for vigilance with new viruses on the horizon. Next month we will hold ASHG’s first ever virtual Hill Day. Normally an event that requires members to travel to Washington, D.C., to speak to policymakers, this year’s remote format will enable more participation than in years past. During this event, members of the Society’s Government & Public Advocacy Committee will communicate the importance of robust and sustained federal funding of NIH and NSF for advances in human genetics and genomics research, as well as the necessity of basic research in discoveries related to the human condition. By advocating for and with members on issues of importance to the human genetics community, ASHG helps to advance the field in science, health, and society. Don’t forget to sign up to become an ASHG Advocate and join with your fellow geneticists in taking action in support of genetics.

DNA Day (April 25) will also feature a number of virtual events this year. ASHG learned an incredible amount from the shift to remote events last year and is working hard to bring new and engaging activities to audiences online through multiple channels. This includes the launch of public-facing materials on an area of ASHG’s website, Discover Genetics, which will now include fact sheets on basic concepts centered around human genetics and the first in a series of videos on genetics and autism produced in partnership with the Simons Foundation Autism Research Initiative (SPARK). There will also be a reshowing of “Ken Burns Presents: The Gene: An Intimate History” on PBS, sharing all of the wonders of genetics with the public audience. Members of the Genetics Engagement and Education Network are beginning to plan their DNA Day events now, so if you are interested, please plan to participate and share your enthusiasm for genetics and genomics. It is with great hope that I anticipate more in-person activities commencing in 2022 in celebration of this important occasion.

As 2021 progresses, ASHG will continue to respond to the COVID-19 pandemic and pursue activities and events that advance human genetics. Additionally, ASHG will also push forward its organizational commitment to investing in Diversity, Equity and Inclusion efforts through its recent launch of the Genetics and Genomics Workforce Survey that took place in early February. Results from this survey will be used to establish the current demographic landscape of the genetics and genomics workforce and to develop ways to better serve all geneticists and genomics professionals. Additionally, ASHG will continue to provide support to up and coming scholars of diverse backgrounds through the Human Genetics Scholars Initiative (HGSI). Through this program, each scholar receives two years of attendance and travel for the ASHG Annual Meeting, year-round professional development, intensive mentoring, community-building, and other qualified tailored professional development support of the Scholar’s choosing. Applications will open in May 2021 and we encourage ASHG members to get involved in this program by becoming a mentor to a future scholar!

Each month we will also host a variety of informative and timely webinars and podcasts on a host of topics relevant for geneticists. And the Society’s annual meeting will provide a forum for the presentation and discussion of cutting-edge science in all areas of genetics and genomics, driving emerging discoveries in the field. It will be held in October 2021 and is expected to be an amazing event.

Through all of these activities, your membership with the Society continues to give you access to the genetics community. It provides an invaluable resource with tools, insight, and advice that is helpful in any career stage. From trainee to senior scientist, ASHG is the continuous thread that binds us and brings us together in times of challenge and triumph. I encourage you to join ASHG or renew your membership if you haven’t done so already. I very much hope that we will find ways in which we can emerge stronger from the challenge of the pandemic and continue to build upon the successful programs of human genetics research to which we are all so dedicated. I wish everyone a very safe and productive Spring!

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