Adam Phillippy appointed founding director of new Center for Genomics and Data Science Research

In 2022, NHGRI convened a Blue Ribbon Panel that spent the better part of a year examining the successes, opportunities, and challenges of the institute’s Intramural Research Program (IRP), with an eye towards providing expert advice for keeping the program at the forefront of genomics over the next decade. Among the many difficult questions discussed was “how can NHGRI’s IRP be a recognized leader in genomic data science?"

Ongoing advances in genomics tools and techniques are leading to the generation of increasingly complex datasets. To keep up, researchers need to develop and use more powerful computational approaches for deciphering biological knowledge from large-scale genomic datasets. For example, new computational-based strategies are needed to connect genome variation to genome function in both basic and clinical research studies.

After a series of lively discussions and brainstorming sessions carried out over months, the Blue Ribbon Panel’s recommendations included the creation of a new program focused on genomic data science, which directly led to the establishment of the NHGRI Center for Genomics and Data Science Research (CGDSR). The CGDSR actually represents a reconfiguration of the previously existing Computational and Statistical Genomics Branch to meet the growing challenges and opportunities for using computational approaches to study genomes.

Researchers in the CGDSR will develop and apply computational approaches to analyze large sets of genetic and genomic data, with an emphasis on identifying the genomic contributions to human disease. The group will serve as a focal point at NIH for analyzing genomic data in laboratory and clinical studies.

NHGRI recently appointed Adam Phillippy, Ph.D., as the founding director of the CGDSR. Dr. Phillippy, a senior investigator and head of the Genome Informatics Section within the NHGRI IRP, has been at NIH since 2015. His research group develops and uses computational methods to sequence and analyze genomes. Notable achievements of his research group include playing a pivotal role in generating the first truly complete human genome sequence as part of the Telomere-to-Telomere Consortium. As a major participant of the international Human Pangenome Reference Consortium, Dr. Phillippy also contributed to the first draft of the human pangenome, a more complete and sophisticated collection of genome sequences that captures significantly more human diversity.

Prior to joining NHGRI, Dr. Phillippy worked at the National Bioforensic Analysis Center, where he founded and led a bioinformatics group. During that time, his group developed genomic methods and analyzed DNA sequence data for the Federal Bureau of Investigation. Before that, he received a B.S. in computer science from Loyola University Maryland and a M.S. and a Ph.D. in computer science from the University of Maryland, College Park.

As the CGDSR Director, Dr. Phillippy provides scientific and administrative leadership, fosters a collaborative and inclusive research environment, and ensures appropriate mentorship for researchers. Under his stewardship, data science and computational biology will grow within the NHGRI IRP in the coming years, consistent with developments across many areas of biomedical research.

In November 2023, NHGRI hosted its 15th Genomic Medicine Meeting, entitled Genomic Medicine XV: Genomics and Population Screening. The meeting discussed the current state of population genomic screening in the U.S. as well as barriers to and opportunities for expanded population screening. These include impacts on clinical practice and outcomes, available genomic screening technologies and costs, issues with false-positive results, and future research directions. One specific topic focused on the additional research needed for the healthcare system to be equipped for increased population screening. The meeting also covered the roles that geneticists and genetic counselors may play in implementing population screening as well as the potential roles of telehealth and artificial intelligence. The executive summary, full summary, and recording from the meeting are now available.

The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research published its annual review in the American Journal of Human Genetics, which highlighted the year’s 10 most significant advances in genomic medicine research. These advances involve the use of patients’ individual genomic variant information in clinical decision-making and demonstrate impact of direct clinical implementation on health outcomes or behaviors. Of note, papers about resources that support genomic medicine research made up half of the 34 papers that the Working Group recognized as notable accomplishments in 2023. These resources reflect the growing body of evidence that supports the feasibility and practical value of using genomic information for screening, diagnosis, and risk assessment in healthcare.

The Global Biodata Coalition (GBC) recently announced its second set of designated Global Core Biodata Resources (GCBRs) — specifically, GBC designated 15 data resources that were found by an international peer-review panel to be critical for the worldwide life sciences and biomedical research community. The GBC was established in 2020 as a group of international research funders working to understand the global biodata resource ecosystem and to facilitate internationally coordinated, sustainable, and streamlined mechanisms to support biodata resources. GCBRs provide free and open access to their data resources, which are used extensively by the research community world-wide. Resources with this designation have a reputation of being well-established, comprehensive, and authoritative, thereby providing high scientific quality and a professional standard of service. View the complete list of designated GCBRs.

Continuing NHGRI’s partnership with the Smithsonian’s National Museum of African American History and Culture, the Education and Community Involvement Branch (ECIB) recently participated in Afrofuturism STEAM (science, technology, engineering, art and math) Day, complementing the current exhibition “Afrofuturism: A History of Black Futures.” Piloting a new ECIB-designed hands-on activity that demonstrates to participants how messages are encoded in DNA, the ECIB staff and volunteers interacted with over 400 attendees. These STEAM Day attendees included elementary, middle, and high school students as well as the students’ parents and local educators.

NHGRI is beginning its search for a director for the Training, Diversity, and Health Equity (TiDHE) Office. The TiDHE Office is a critical arm in NHGRI’s efforts to achieve the goals established in the institute’s 2020 Action Agenda for Building a Diverse Genomics Workforce. The office’s recent activities have included: founding Diversity Centers for Genome Research to increase access to genomics research opportunities for students; publishing a toolkit for assessing the efficacy of genomics training programs; and hosting webinars and other events related to related to diversity, health equity, and genomics. The director will oversee and build upon these activities in addition to other duties, such as advising the NHGRI director and other institute staff on matters related to diversity and health equity. The director will succeed Vence Bonham, J.R., J.D., who has served as TiDHE’s acting director in addition to his roles as the NHGRI acting deputy director and an associate investigator in NHGRI’s Social and Behavioral Research Branch. Applications are due on February 9. Please refer to the advertisement on genome.gov for instructions on how to apply.