Introduction:Identifying key characteristics of exemplar genomic learning healthcare systems (gLHS) and knowledge gaps that can be explored by collaboration among them is likely to accelerate the sharing of best practices and generation of evidence that informs the use of genomics in clinical care. Methods:Deliberations of an expert group convened by the National Human Genome Research Institute (NHGRI) supplemented by relevant literature. Results:Recent advances in genomic data standardization, automated clinical decision support, increased interoperability, and improved genomic technologies have enabled the development of several robust gLHS. They remain concentrated in major academic centers, however, and operate largely independently. Sharing their methods and tools would increase access to these innovations and advance the field. Several gLHS have expressed willingness to collaborate in a coalition designed to gather, evaluate, and disseminate best practices and development needs. Such a coalition has recently been formed under the leadership of NHGRI. Conclusion:Increased collaboration, interoperability, and sharing of genomic information and strategies across gLHS can help define, refine, and disseminate best practices. Such cooperation can improve genomic variant curation and interpretation, diagnostic accuracy, evidence generation, and ultimately patient care through seamless integration of research as an integral component of good clinical care.

The global landscape of health genomics is expanding rapidly, with an increasing number of national and international initiatives, many of which are targeted toward accelerating the clinical implementation of genomic technologies and services in the context of local health systems. This includes a range of entities with different levels of maturity, funding sources, and strategies that focus on research and clinical priorities to varying degrees. While there is no "one-size-fits-all" approach, analysis of national genomics programs helps to identify common priority areas, barriers, and enablers. Here, we synthesize the converging priorities of several national genomics programs to highlight the importance of progressing genomics research and clinical implementation on a national scale.

Duplicated genes expanded in the human lineage likely contributed to brain evolution, yet challenges exist in their discovery due to sequence-assembly errors. We used a complete telomere-to-telomere genome sequence to identify 213 human-specific gene families. From these, 362 paralogs were found in all modern human genomes tested and brain transcriptomes, making them top candidates contributing to human-universal brain features. Choosing a subset of paralogs, long-read DNA sequencing of hundreds of modern humans revealed previously hidden signatures of selection, including for T-cell marker CD8B. To understand roles in brain development, we generated zebrafish CRISPR "knockout" models of nine orthologs and introduced mRNA-encoding paralogs, effectively "humanizing" larvae. Our findings implicate two genes in possibly contributing to hallmark features of the human brain: GPR89B in dosage-mediated brain expansion and FRMPD2B in altered synapse signaling. Our holistic approach provides insights and a comprehensive resource for studying gene expansion drivers of human brain evolution.

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine. This Perspective discusses how addressing disparities in genomics can drive improvements in health equity more broadly.

The All of Us Research Program has prioritized the enrollment of people from backgrounds that are historically under-represented in medical research to bring precision medicine to the full diversity of the US population and to improve health outcomes for all.

The data-intensive fields of genomics and machine learning (ML) are in an early stage of convergence. Genomics researchers increasingly seek to harness the power of ML methods to extract knowledge from their data; conversely, ML scientists recognize that genomics offers a wealth of large, complex, and well-annotated datasets that can be used as a substrate for developing biologically relevant algorithms and applications. The National Human Genome Research Institute (NHGRI) inquired with researchers working in these two fields to identify common challenges and receive recommendations to better support genomic research efforts using ML approaches. Those included increasing the amount and variety of training datasets by integrating genomic with multiomics, context-specific (e.g., by cell type), and social determinants of health datasets; reducing the inherent biases of training datasets; prioritizing transparency and interpretability of ML methods; and developing privacy-preserving technologies for research participants' data.

GEN BiotechnologyVol. 2, No. 2 Asked & AnsweredGreen Day: An Interview with NHGRI Director Eric GreenEric D. Green and Kevin DaviesEric D. Green*Address correspondence to: Eric D. Green, National Human Genome Research Institute, National Institutes of Health, 31 Center Dr., Bldg. 31, Rm. 4B09, Bethesda, MD 20892, USA, E-mail Address: [email protected]National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.Search for more papers by this author and Kevin DaviesGEN Biotechnology, New Rochelle, New York, USA.Search for more papers by this authorPublished Online:18 Apr 2023https://doi.org/10.1089/genbio.2023.29093.edgAboutSectionsView articleView Full TextPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail View articleFiguresReferencesRelatedDetails Volume 2Issue 2Apr 2023 InformationCopyright 2023, Mary Ann Liebert, Inc., publishersTo cite this article:Eric D. Green and Kevin Davies.Green Day: An Interview with NHGRI Director Eric Green.GEN Biotechnology.Apr 2023.87-91.http://doi.org/10.1089/genbio.2023.29093.edgPublished in Volume: 2 Issue 2: April 18, 2023PDF download

The 2020 strategic vision for human genomics, written by the National Human Genome Research Institute (NHGRI), was punctuated by a set of provocatively audacious "bold predictions for human genomics by 2030." Starting here, these will be unpacked and discussed in an upcoming series in the American Journal of Human Genetics.

Starting in 2019, AJHG has published an annual feature 1 Manolio T.A. Bult C.J. Chisholm R.L. Deverka P.A. Ginsburg G.S. Jarvik G.P. McLeod H.L. Mensah G.A. Relling M.V. Roden D.M. Rowley R. Tamburro C. Williams M.S. Green E.D. Genomic Medicine Year in Review: 2019. Am. J. Hum. Genet. 2019; 105: 1072-1075 Abstract Full Text Full Text PDF PubMed Google Scholar ,2 Manolio T.A. Bult C.J. Chisholm R.L. Deverka P.A. Ginsburg G.S. Goldrich M. Jarvik G.P. Mensah G.A. Relling M.V. Roden D.M. Rowley R. Tamburro C. Williams M.S. Green E.D. Genomic medicine year in review: 2020. Am. J. Hum. Genet. 2020; 107: 1007-1010 Abstract Full Text Full Text PDF PubMed Google Scholar ,3 Manolio T.A. Bult C.J. Chisholm R.L. Deverka P.A. Ginsburg G.S. Goldrich M. Jarvik G.P. Mensah G.A. Ramos E.M. Relling M.V. Roden D.M. Rowley R. Williams M.S. Green E.D. Genomic medicine year in review: 2021. Am. J. Hum. Genet. 2021; 108: 2210-2214 Abstract Full Text Full Text PDF PubMed Google Scholar ,4 Manolio T.A. Narula J. Bult C.J. Chisholm R.L. Deverka P.A. Ginsburg G.S. Goldrich M. Green E.D. Jarvik G.P. Mensah G.A. Ramos E.M. Relling M.V. Roden D.M. Rowley R. Williams M.S. Genomic medicine year in review: 2022. Am. J. Hum. Genet. 2022; 109: 2101-2104 Abstract Full Text Full Text PDF PubMed Google Scholar identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis and post them on a searchable website (https://www.genome.gov/health/Genomics-and-Medicine/accomplishments). From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.

OBJECTIVE The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.

Starting in 2019, AJHG has published an annual feature1,2,3 identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) has authored these reviews on the basis of its broader effort to identify notable accomplishments in genomic medicine on a monthly basis and post them on a searchable website (see web resources).

In what was already a difficult year, 2021 ended on a somber note with the untimely death of Debbie Nickerson, a highly accomplished genomics researcher, a role model professional, and a long-time friend of Genome Research.Debbie Nickerson passed away at her home, surrounded by her family, on Christmas Eve, December 24, 2021.She was 67 years old and just days away from celebrating her 68th birthday.Her passing came as a shock to all who knew and loved her.As reactions to her death filled email inboxes and social media outlets, it became evident that the world had unexpectedly lost a true genomics icon.Debbie was born in Mineola, New York, to Josephine and William Nickerson and as an adult expressed enduring pride for her New York roots.After earning her PhD from the University of Tennessee in 1978 and joining the faculty at the University of South Florida, she joined the laboratory of Leroy Hood at Caltech in 1989 and quickly grew fascinated with genomic technologies (Charmley et al. 1994).In 1992, she moved to Seattle to become a faculty member at the University of Washington in the Department of Molecular Biology and, in 2001, a founding member of the Department of Genome Sciences.Debbie rapidly found her niche at the interface of developing and rapidly adopting new genomic technologies, with a particular focus on DNA sequencing methods that could be used to understand the natural pattern of human genomic variation and its impact on health and disease.Her research group made early contributions to pharmacogenomics, immunogenomics, and the Debbie Nickerson and Andrew Clark in November

A pioneer of the genetic code and then genomics, Dr

The UK is set to pilot genetic sequencing in healthy babies. Genomic screening at appropriate ages could help reduce the burden of genetic disorders, say Leslie Biesecker and colleagues, but David Curtis argues that newborns cannot consent and that our most personal data might be misused

The National Human Genome Research Institute (NHGRI) recently published a new strategic vision for the future of human genomics, the product of an extensive, multi-year engagement with numerous research, medical, educational, and public communities. The theme of this 2020 vision—The Forefront of Genomics—reflects NHGRI’s critical role in providing responsible stewardship of the field of human genomics, especially as genomic methods and approaches become increasingly disseminated throughout biomedicine. Embracing that role, the new NHGRI strategic vision features a set of guiding principles and values that provide an ethical and moral framework for the field. One principle emphasizes the need to champion a diverse genomics workforce because “the promise of genomics cannot be fully achieved without attracting, developing, and retaining a diverse workforce, which includes individuals from groups that are currently underrepresented in the genomics enterprise.” To build on the remarkable metamorphosis of the field over the last three decades, enhancing the diversity of the genomics workforce must be embraced as an urgent priority. Toward that end, NHGRI recently developed an “action agenda” for training, employing, and retaining a genomics workforce that reflects the diversity of the US population.

Starting in 2019, The American Journal of Human Genetics has published an annual feature1,2 identifying ten key advances in applying genomic information to clinical care that appeared in the previous 12 months of published literature. The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) has authored these reviews on the basis of its broader effort to identify notable accomplishments in genomic medicine implementation on a monthly basis and post them on a searchable website (see web resources).

Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.

In December 2019, The American Journal of Human Genetics introduced a new annual feature1 designed to chronicle ten key advances in applying genomic information to clinical care in the previous twelve months of published literature. The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) has continued this effort by identifying published advances in genomic medicine implementation on a monthly basis and posting them on a searchable website, "Accomplishments in Genomic Medicine" (see Web Resources).