This ASHG 2023 Annual Report highlights ASHG’s progress during the past year to support our mission “to realize the benefits of human genetics and genomics research for people everywhere.” It also reflects ASHG’s “One Humanity, Many Genomes” anniversary theme, which seeks to convey that human genetics tells us so much about all that we share in common through 99.9% of our genomes, as well as what makes each of us unique, and how we can use that knowledge to improve health and well-being.
ASHG is remarkable because of the dedication of countless volunteer leaders, ASHG staff, and donors. In my year as president, I have had the great honor to help guide our organization’s efforts and I am enormously grateful to work with so many amazing scientists who are giving back to the community and our outstanding staff. It took the collective contributions of many individuals over 75 years to bring our Society to this point, and it will take even more collaborative efforts to remain current and significant in the years ahead. It is a bright moment in time for our field and for ASHG. I hope you join us and contribute to building our profoundly important future.
Brendan Lee, MD, PhD, ASHG President
ASHG works to build a vibrant and collaborative community of human genetics and genomics professionals in research, medicine, and education from across the world. Members include researchers, clinicians, genetic counselors, students, and others working to advance discovery within and application of human genetics and genomics in society. ASHG offers professional development, networking, volunteer opportunities, and much more to support their work.
ASHG’s 2022 Annual Meeting, held in Los Angeles, CA, for the first time in person in three years, attracted thousands of human genetics and genomics professionals to discuss the latest research, unveil new technologies and tools, and spark collaborations that advance research and medical discoveries.
Presidential Symposium on African Genomics
The 2022 Presidential Symposium highlighted genetics and genomics in Africa, a profoundly dynamic and diverse continent, including discussing major advances, new directions and goals, emerging scientific leadership, exciting investment in technology infrastructure, and more. 2022 ASHG President, Charles Rotimi, PhD, and former NIH Director, Francis Collins, MD, PhD, moderated the session and invited distinguished speakers from Africa who included:
- Christian Happi, PhD, African Centre of Excellence for Genomics of Infectious Disease, Ede, Nigeria
- Julie Makani, PhD, Muhimbili University of Health and Allied Sciences (MUHAS); Sickle Pan Africa Research Consortium (SPARCO), Dar es Salaam, Tanzania
- Mayowa Owolabi, MD, University of Ibadan, Ibadan, Nigeria
- Nicola Mulder, PhD, University of Cape Town; H3ABioNet, Cape Town, South Africa
The American Journal of Human Genetics
Known for its scientific excellence and rigor, The American Journal of Human Genetics (AJHG) is one of the leading journals in the field of genetics and genomics. Since 1948, AJHG has published thousands of research and review articles on human heredity and the application of genetic principles in medicine and public policy.
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Human Genetics and Genomics Advances
ASHG’s fully open-access journal Human Genetics and Genomics (HGG) Advances allows for the rapid dissemination of cutting-edge, high-impact research across the breadth of human genetics that is immediately accessible to researchers and the science-interested public.
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Awards for Outstanding Publications
Each year, AJHG and HGG Advances recognize trainees and early-career professionals who authored articles published in the journals within the previous year and whose published work the editors feel best represent outstanding scientific contributions to the field of human genetics and genomics.
2022 AJHG C.W. Cotterman Award
(Now known as the AJHG Award for Outstanding Trainee Publication)
2022 HGG Advances Early-Career Investigator Award
(Now known as the HGG Advances Award for Outstanding Early Career Publication)
ASHG/NHGRI Genomics and Public Service Fellowships
In June 2023, ASHG and NHGRI announced the expansion and renaming of our joint fellowship program through a five-year, nearly $7 million contract. The newly named ASHG/NHGRI Genomics and Public Service Fellowships program will continue and enhance the prestigious post-graduate Genetics & Public Policy Fellowship and Genetics Education & Engagement Fellowship and launch two new fellowships: a post-graduate Genomics Communication Fellowship and Post-Baccalaureate Genomics Analyst Fellowship. Applications open for all programs in fall 2023 with the first cohort starting rotations in summer 2024.
Charles Epstein Trainee Awards for Excellence in Human Genetics Research
The Charles Epstein Trainee Awards, now known as the ASHG Trainee Research Excellence Awards, honor excellence in research conducted by predoctoral and postdoctoral trainees, recognizing highly competitive abstracts submitted and presented at the ASHG Annual Meeting. The 2022 winners included the following:
- Layla Siraj, Harvard University
- Frederik Filip Vinggaard Stæger, University of Copenhagen
- Marianne Lemée, University of Strasbourg and IGBMC
- Hai Nguyen, University of California San Francisco
- Nathan Nakatsuka, New York Genome Center
- Yosuke Tanigawa, MIT
ASHG Learning Center
The ASHG Learning Center provides access to all ASHG digital programs including live and on-demand webinars, interactive workshops, podcasts, and Annual Meeting content. An ongoing grant from the Illumina Corporate Foundation since 2020 has enabled and supported the growth of ASHG online education programming.
Genetics and Genomics Digital Forum
After relaunching an in-person Annual Meeting following two years of being virtual due to the pandemic, ASHG convened a Digital Forum immediately following the Annual Meeting for those unable to attend the in-person meeting or who wanted additional content and networking following the in-person meeting. Programming included live and on-demand talks, workshops, and networking sessions.
ASHG Career Center
The ASHG Career Center features year-round resources and opportunities for genetics and genomics professionals, no matter their career stage. The ASHG Job Board has become one of the biggest resources for our members since its launch in 2019. Over 250 employers posted over 2,000 open positions on the site this past year.
Career and Professional Development Events
ASHG also held multiple events focused on career and professional development including:
ASHG Annual Meeting events
- 2nd ASHG Career Fair, which boasted 12 booths, career coaches offering free resume review, and professional headshots
- Self-Discovery Workshop: Finding Balance & Joy in Your Work
- Trainee Social Reception
Webinars focused on
- Caregiving for children, elders, and personal relations (part of ASHG’s Work-Life Balance Webinar Series)
- Perspectives from ASHG Members Working in Industry
Every advance paved the way for those that followed, culminating in the sequencing of the human genome, the complete set of genetic information contained in each person’s DNA, and progress made in understanding the human genome. These accomplishments have led to major progress in elucidating the role that DNA variants play in health and disease, how to use this information for personalized care and precision health, and the ability to go beyond coding DNA to other parts of the genome.
DNA and the Human Genome
The successful completion of the Human Genome Project would not have been possible without the many discoveries that preceded it. From understanding the double helix structure of DNA to learning how to sequence the nucleotides that make up DNA to developing the tools needed for research, progress in genetics has been incremental, a step-by-step process that continues to evolve.
Every Person and Genome Is Unique: Variation in the Human Genome
State-of-the-art tools perfected during the 2000s led to the discovery of the tremendous variation in the human genome. Knowledge gained from this work included learning that the genomes of two human individuals are 99.5% identical at the DNA level, yet every person has variants that make them unique. Also, it was understood that sets of genetic variants could be passed along from one generation to the next and great progress was made in identifying variants that could result in disease. Moving forward, the goal is to sequence the genomes of as many people worldwide as possible—the most effective way to uncover the whole catalogue of variants of humanity.
The Genetic Basis of Disease
Beginning in the 1950s, researchers first used a molecular technique called karyotyping to visualize human chromosomes and their differences linked to conditions such as Down syndrome. Much progress has been made since then. We have identified many other causes of genetic anomalies, including single nucleotide variants and larger structural changes that alter protein-encoding genes. We are now starting to understand the role of variation in regions that control the expression of genes and how that impacts human diseases. We are just now starting to understand the role of variation in non-protein coding parts of the genome and their role in human diseases.
How Genomics and Technology are Changing the Health Care Landscape
Today, when genetic diseases are detected, physicians can do more than just treat the symptoms. In some cases, they can actually replace defective genes with healthy ones or repair a misspelling in the DNA. These technologies are the tip of the iceberg, a preview of what will be possible in the coming years.
Genome Function Beyond DNA
With many questions about DNA now answered, scientists are now looking at genes in a broader context. For example, how do they interact with the environment? What can we learn from gene expression profiles of different tissues in the body? Information like this can be used widely in a range of research projects and to better understand disease and improve people’s lives.
Equitable Expansion of Precision Medicine
- Every patient with a suspected genetic disorder can be whole-genome sequenced to obtain an accurate diagnosis of their disease, eliminate the diagnostic odyssey, and potentially guide management and treatment based on the specific molecular defect in the patient
- Full integration of our understanding of inherited characteristics and individual genomic information, along with environmental and lifestyle factors, into the day-to-day medical care to better assess and predict risk of diseases (e.g., monogenic and polygenic health conditions, including common infectious and noncommunicable diseases such as diabetes, heart disease and cancer)
Increase Awareness of Genetics
- Increased education and awareness of genetics concepts and topics among the general public and health professionals to enable informed discussions and decision making about individuals’ health based on their genomic information
Increase Diversity of Genomics Research
- Increasing diversity and worldwide representation of participants in genomics research in an equitable and respectful manner
- Creation and whole-genome sequencing of longitudinal biobanks from populations around the world
Explore New Avenues for Research and Clinical Impact
- Using patient-derived models such as organoids to test efficacy of medications and therapeutic avenues on patients prior to clinical implementation
- Full understanding and functional characterization of all protein coding and noncoding genes in the human genome, their normal biological functions, and associations with diseases or traits
As part of ASHG’s 75th anniversary celebration, ASHG engaged geneticists from different parts of the world and pursuing different aspects of the field. Some are in earlier career stages, while others have experienced firsthand the enormous progress in genetics and genomics over decades. Some are pursuing fundamental research while others work primarily with patients, and many apply their time engaging patient communities and integrating ethical and societal implications and other vital facets of genomics dialogue. In so doing, they all help pursue ASHG’s mission to advance human genetics and genomics research, education, and advocacy to benefit science, health, and society.
Report on Facing Our History—Building an Equitable Future Initiative
In Winter 2023, ASHG released a report on the Facing Our History—Building an Equitable Future Initiative which involved a year-long effort to acknowledge and reckon with a history of past injustice as well as progress toward justice in the field and Society. An expert panel composed of leading human geneticists, historians, clinician-scientists, social scientists, and equity scholars led the effort with support from ASHG staff and an outside research firm. The report process included an intensive research and environmental scan, four Expert Panel meetings, and community dialogue, leading to the identification of four major themes and several immediate actions that ASHG commits to take.
- ASHG and the American Eugenics Movement
- ASHG Was Silent When Genetics Was Misused to Justify Social Harms
- ASHG’s Evolving Role to Advance Ethical and Legal Protections
- ASHG Strives for a More Equitable and Just Future
- Publish the full report and statement publicly online and in AJHG.
- Increase integration of equity into scientific and training initiatives at ASHG.
- Sustain advocacy for research DEI through policy and communications agendas.
- Continue to build the diversity and inclusivity of ASHG’s leadership.
- Assess the names of ASHG professional awards for the future.
- Update and prioritize DEI objectives as part of refreshing ASHG’s strategic plan.
Human Genetics & Genomics Workforce Survey Report
In fall 2022, ASHG released a comprehensive report examining diversity in the human genetics and genomics workforce. ASHG, in partnership with NHGRI, the American College of Medical Genetics and Genomics (ACMG), and the National Society of Genetic Counselors (NSGC), conducted the survey to understand the demographics of the genetics and genomics workforce, as well as the climate and culture in training programs and the workplace. Drawing from 4,367 responses across the spectrum of the workforce (i.e., researchers, clinicians, and genetic counselors), the report’s findings confirm that progress continues to be made and provide insights about what challenges the field and organizations within need to address to build a more diverse workforce.
Primary Area of Work
- Genetic Counseling (45.7%)
- Research (30.4%)
- Academic (23.4%)
- 74.7% Women
- 23.3% Men
- 0.5% Nonbinary or Transgender
Race, Ethnicity, or Ancestry
- 67.0% White
- 7.4% Asian
- 1.5% Black, African American, or African
- 2.0% Hispanic, Latino, or Spanish
- 1.1% Middle Eastern or North African
- <1% American Indian or Alaska Native
- <1% Native Hawaiian or Other Pacific Islander (<1%)
- 4.8% Multiracial
Human Genetics Scholars Initiative
Made possible with continued foundational support from NHGRI and Biogen along with annual support from GSK, Merck & Co., and Roche, the Human Genetics Scholars Initiative supports the professional success of diverse early-career genetics and genomics researchers by providing them with year-round education, networking, and mentoring while also working to develop a community of researchers and leaders committed to workforce diversity, equity, and inclusion at their institutions.
Impact Partnerships for Equity in Genetics and Genomics
Knowing that collective effort is required to ensure all people benefit from genetics and genomics research, ASHG launched the Impact Partnerships for Equity in Genetics and Genomics Research in January 2022. Illumina and Invitae joined as founding partners demonstrating their shared commitment to advancing DEI in human genetics and genomics. Through their financial contributions, Impact Partners support the Society’s diversity, equity, and inclusion efforts. ASHG and Impact Partners also meet periodically throughout the year to share knowledge and experiences and discuss opportunities for future efforts aimed at advancing DEI in the field.
Advocacy Certificate for Human Genetics and Genomics Trainees
The Society provides training, opportunities, and resources to support members in engaging with policymakers including the Advocacy Certificate for Human Genetics and Genomics Trainees (ACGT). Now in its second year, ACGT helps trainees build their professional skills within science policy and advocacy. This past year, ACGT members joined ASHG at the Rally for Medical Research and participated in ASHG’s virtual Capitol Hill Day, during which they spoke with congressional offices and leaders about the impact and value of NIH research support and other policy priorities.
ASHG Guidance on Community Engagement and Polygenic Risk Scores
ASHG recognizes that researchers do not always have formal training on the ethical or social implications of their research. To address this need, ASHG develops and disseminates through AJHG timely publications called “Guidance” to help members consider and address responsible application of their research. In fall 2022, ASHG published two guidance statements on the topics of:
One Humanity, Many Genomes: Celebrating 75 Years of ASHG
Established in 1948, ASHG marks our 75th anniversary in 2023 through the lens of “One Humanity, Many Genomes,” which emphasizes how humans are more similar than we are different but that tiny genomic differences can markedly affect our health and disease risk, especially combined with differing environments.
DNA Day Essay Contest
Each year, ASHG works to spark excitement and learning among the next generation of genetics professionals and foster greater public awareness through our annual DNA Day Essay Contest. In 2023, the Society received over 950 submissions from nearly 30 U.S. states and 40 countries outside of the U.S. The question for the 2023 annual contest asked students to explain what “One Humanity, Many Genomes” means to them in relation to how advances in understanding our genomes impact our lives. For the first time, ASHG invited the first-place winner to record a video with their teacher about their essay and the writing process.
2023 DNA Day Essay Contest Winners
Additional DNA Day celebrations included a discussion panel on the Ask Science Reddit page, a social media campaign recognizing pioneering leaders in the field, and a webinar and fact sheet focused on career paths in human genetics targeted to middle and high school students. Read the winning essays at ashg.org/dnaday.
ASHG’s public-facing website, Discover Genetics, added new resources this past year, including:
- Two fact sheets focused on analyzing DNA and career paths in genetics.
- Weekly news updates that highlight exciting stories and developments within genetics and genomics.
- A timeline of top milestones in the field over the last 75 years.
- Perspectives of six members about the year’s theme and how their work impacts the field and society.
ASHG social media channels expand our reach to the greater public to garner added interest from broader audiences into genetics and genomics and Society programming, resources, and membership. This past year, ASHG hosted a Twitter Chat with the National Hispanic Medical Association (NHMA) and current chair of the Public Engagement and Awareness Committee (PEAC), Kenneth Ramos, MD, PhD, to discuss how ASHG’s diversity messaging project relates to NHMA programs.