New NHGRI public information resource on polygenic risk scores
Shortly before the holidays, Congress passed and the President signed a federal budget for Fiscal Year 2020. Deep within the complicated set of numbers that comprise a federal budget was very good news for NIH and NHGRI – another nice increase in funding. In addition to a baseline increase of just over 3% that almost all other NIH institutes and centers received, NHGRI was given some additional funds specifically for a new “emerging centers of excellence” program that will aim to further build capacity for genomics research in the United States. NHGRI staff is now working in earnest to launch this new program, which will further disseminate genomics expertise across the biomedical research enterprise – something that NHGRI regards as important for the growth of genomics overall. We are grateful to the U.S. Congress for its continued generous support of NIH and NHGRI!
As the sun comes up on the new decade and with NHGRI’s budgetary circumstance defined for the rest of the fiscal year, the future seems as bright as ever for the field of genomics. This is particularly apparent as we enter the home stretch of our ‘Genomics2020’ Strategic Planning Process, which is comfortably on track for publishing NHGRI’s new strategic plan in ~10 months! That said, it means that 2020 will be a particularly busy year for the Institute.
All the best,
New NHGRI public information resource on polygenic risk scores
Researchers continue to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach has received significant attention of late both in the scientific and popular press – polygenic risk scores. But what are these scores and how might they be important?
To help people understand the answers to these and other related questions, NHGRI’s Communications and Public Liaison Branch recently developed a polygenic risk score webpage, which provides graphical and textual information about polygenic risk scores and more! Specifically, the new resource describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
The use of polygenic risk scores (also called genetic scoring and genetic risk scoring) is becoming more widespread both in the research settings and associated with direct-to-consumer genetic testing companies. All of these efforts generally aim to develop approaches for using polygenic risk scores as a tool for disease prediction and, it is hoped, improved health outcomes.
Currently, researchers are studying how best to use statistical methods for calculating polygenic risk scores for complex diseases (those that are caused by variants in more than one gene), such as coronary heart disease, diabetes, and depression. Such methods take into account information about variants across a person’s genome, comparing the collection of such genomic variants in individuals with and without a particular disease. The resulting analyses allow statistical estimates of disease risk, with ongoing research investigating how such information can be used in clinical practice.
NHGRI concluded that an informational resource on polygenic risk scores would likely help researchers, clinicians, and the public understand the fundamentals of this area of genomics, especially in light of the rapidly evolving nature of this genetic approach to risk prediction in terms of research findings and potential clinical utility. Along with the main webpage, NHGRI also produced a video on polygenic risk scores with the YouTube science channel SciShow.
NHGRI commits to explicit consent for broad sharing of human genomic data
NHGRI will soon require its grantees to obtain explicit consent for future research use and broad sharing of all genomic data derived from human sources, going beyond the general expectations of the NIH Genomic Data Sharing Policy. In early 2020, grants awarded in response to relevant funding opportunity announcements will implement this new policy. The same policy will apply to other grants and the NHGRI Intramural Research Program starting in 2021. See the NHGRI Guide Notice and FAQs for more information.
Josh Denny selected as All of Us Research Program CEO
In December, Dr. Josh Denny was selected as the new CEO of the All of Us Research Program. Currently a professor in the Departments of Biomedical Informatics and Medicine at Vanderbilt University, Josh is also an NHGRI grantee, a member of the Institute’s Advisory Council, and a valued genomics colleague. He has been involved in All of Us from the beginning stages, first as a member of the Advisory Committee to the (NIH) Director Precision Medicine Initiative Working Group (which developed the program's scientific blueprint), then leading the program's initial prototyping project, and subsequently serving as the principal investigator for the All of Us Data and Research Center. With Josh’s new appointment, the current All of Us Deputy Director, Dr. Stephanie Devaney, will become the program’s Chief Operating Officer, while the outgoing Director, Eric Dishman, will become the program’s Chief Innovation Officer. NHGRI looks forward to continued and productive scientific interactions with the All of Us Research Program under this new leadership model.
NIH strives to end harassment in science
In February 2019, NIH established a Working Group of the Advisory Committee to the Director on “Changing the Culture to End Sexual Harassment.” Recently, the group issued a report after months of information gathering and deliberation. The report includes recommendations for: increasing transparency and accountability; mechanisms for restorative justice; and ensuring and creating safe, diverse, and inclusive research and training environments. The report was presented to and accepted by the NIH Director at a recent meeting of the Advisory Committee to the Director. The recording and slides from that presentation are available on the NIH website.
2020 Vision for Genomics
- ‘Genomics2020’ Strategic Planning Finale Meeting Videocast – April 20-22, 2020 on GenomeTV Live
- ‘Genomics2020’ Strategic Plan Publication – October 2020
Researchers discover a new autoinflammatory disease called CRIA syndrome
Notable accomplishments in genomic medicine
What Your Family History Can’t Tell You
Risk factors for colonization by Candida auris, an emerging multi-drug resistant human fungal pathogen – Xin Huang
Caregiving across contexts: stress and mental health among parent-caregivers – Jasmine Manalel
Access to care, support networks and physical health of parent-caregivers – Aaron Gurayah
Stress, coping & neuropeptides – Tracy Swan
Exploring the role of ribosome biogenesis in regeneration – Sofia Barreira
NIH seeks to fund research on ethical considerations related to biomedical research
Supplements to Promote Research Continuity and Retention of NIH Mentored Career Development Award Recipients and Scholars
NIH and AHRQ announce upcoming changes to policies, instructions and forms for research training grant, fellowship, and career development award applications
NIH & NHGRI News
Creating meaningful reforms to end sexual harassment in science
Dr. Collins shares NIH’s perspective on the potential of CRISPR genome-editing systems with Southwestern Medical Foundation’s Perspectives Magazine
Selection of Dr. Joshua Denny as Chief Executive Officer of the All of Us Research Program
NIH Director on human gene editing: 'We must never allow our technology to eclipse our humanity'
Genome: Unlocking Life's Code
Next: Jan. 17 – Apr. 12, 2020
Museum of Science & History
About The Genomics Landscape
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.
Last updated: January 9, 2020