NHGRI Office of Genomic Data Science hits its stride

With rapid advances in genomic technologies seen over the last two decades, researchers are now regularly generating massive amounts of genomic data. To meet the growing needs of the field, NHGRI established the Office of Genomic Data Science (OGDS) a little over two years ago. Directed by Valentina Di Francesco, M.S., the goal of the office is to develop, promote, and coordinate genomic data science activities within NHGRI and across NIH.

OGDS is involved in a number of activities, such as leading the development of computational analysis tools; creating and maintaining accessible genomic data and informatics resources; supporting workforce development in genomic data science; and implementing NIH data sharing policies. Now onto its third year of operation, OGDS has truly hit its stride, becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects, and activities. Some illustrative highlights are provided below.

OGDS has led the expansion of NHGRI’s Analysis, Visualization, and Informatics Lab-space (AnVIL) program. AnVIL, a cloud-based genomic data sharing and analysis platform, helps researchers integrate and analyze large genomic datasets generated by NHGRI-funded projects. This platform makes it easier for scientists to share and reuse genomic data. Over the last few years, AnVIL has continued to provide various non-NIH institutions “cloud credits” that allow researchers to conduct cloud-based genomics research on the AnVIL platform.

In partnership with NHGRI’s Training, Diversity, and Health Equity (TiDHE) Office, OGDS organized the Genomic Data Science Community Network, which supports genomics educational and research projects at institutions that do not typically receive NIH funding, such as community colleges. Such institutions would not usually have access to cloud computing, and thus providing access to AnVIL for analyzing large genomic datasets greatly increases their students’ exposure to genomics research. Last September, in partnership with TiDHE, ODGS also helped launch a new educational hub at North Carolina Agricultural and Technical State University (NCATSU), which is designed to provide educational and research opportunities for students from diverse backgrounds.

OGDS has also been organizing and promoting the activities of the Genomic Data Science Working Group, which is part of NHGRI’s Advisory Council. This working group provides valuable input about computational genomics and data science issues. Recently, members of the working group published a paper in Cell Genomics that discusses the opportunities and hurdles for research at the intersection of genomics and machine learning.

Looking to the future, OGDS continues to expand its influence through various activities and programs both within NHGRI and across the larger NIH data science community. Read more about their efforts on the ODGS webpage.

Despite the numerous exciting advances in genomic medicine, the subspeciality of medical genetics faces numerous challenges. In addition to ensuring that all clinicians are more educated about genetics, there is an increasing need for more experts in the field of medical genomics, including clinician-scientists and other types of providers. To better understand the needs of this workforce, NHGRI convened a series of meetings focusing on the challenges and opportunities for the clinical genomics workforce. The series began with three moderated listening sessions in the summer of 2023. Recordings of these sessions are available on NHGRI’s YouTube channel, GenomeTV, and a summary — co-authored by NHGRI's clinical director, Ben Solomon, M.D., along with Wendy Chung, M.D., Ph.D., Shoumita Dasgupta, Ph.D., and Debra Regier, M.D., Ph.D. — was recently published in Genetics in Medicine. These efforts revealed challenges related to attracting new trainees into the field, such as perceptions of low salaries in this subspecialty and a lack of exposure to genomics during medical training. Some attendees also noted that clinicians in training often view genomics as purely a research area and therefore not relevant to those interested in primarily clinical work. Going forward, relevant leaders, including Dr. Solomon and NHGRI’s Oleg Shchelochkov, M.D., and Lucia Hindorff, Ph.D., plan to continue discussions on overcoming these barriers in various forums as part of ongoing efforts to build a more vibrant and robust clinical genomics workforce.

The National Academies of Science, Engineering, and Medicine (NASEM) recently published a report that proposes expanded efforts to better understand RNA, DNA’s sister molecule. RNA is responsible for many cellular functions, including translating the information encoded in DNA into the proteins necessary for life. Despite RNA’s numerous important roles in human health, many technological challenges currently prevent researchers from studying all the different forms of RNA and the myriad chemical modifications that can decorate RNA molecules. The report highlights the need to develop new technologies and infrastructure to allow for the complete sequencing of all types of RNA and their modifications. Such advances would inevitably reveal areas of RNA biology that have not been fully explored and offer new opportunities for understanding RNA’s role in health and disease. You can read more about the report in a new feature published in Science, which includes quotes from several NIH staff members, including NHGRI’s Carolyn Hutter, Ph.D.

Last month, multiple NHGRI staff members attended the annual American College of Medical Genetics and Genomics (ACMG) Meeting. ACMG represents medical genetics professionals across the many disciplines that form the medical genetics and genomics community. At the meeting, which was held in Toronto, Canada, NHGRI researchers Diana Bianchi, M.D., and Teresa Luperchio, Ph.D., each gave a plenary talk. The meeting also featured three platform presentations from NHGRI researchers, and over a dozen NHGRI trainees presented posters. For the first time, NHGRI held an exhibit booth at ACMG, and representatives from the institute met with students, educators, genetic counselors, and other professionals to discuss NHGRI’s research and training programs. Having an exhibit booth at the ACMG Meeting provides yet another opportunity for NHGRI to expand its reach into the medical genetics and genomics community.

Dan Kastner, M.D., Ph.D., NIH distinguished investigator and head of NHGRI’s Inflammatory Disease Section (as well as a former NHGRI scientific director), has been honored with the 2024 George M. Kober Medal from the Association of American Physicians. The Kober Medal is one of the most prestigious honors awarded to physician-scientists in the United States, recognizing outstanding leaders in medicine who have made significant contributions through their scientific discoveries and mentorship. Past awardees include Anthony Fauci, M.D., former director of the National Institute of Allergy and Infectious Diseases, and Francis Collins, M.D., Ph.D., former NHGRI director and former NIH director. For nearly four decades, Dr. Kastner has been using genetics and genomics tools to study rare inflammatory disorders at NIH, evaluating over 2,000 patients with recurrent fever syndrome and other autoinflammatory disorders. Learn more about the Kober Medal and its previous awardees.