To capitalize on the opportunities presented by advances in data science, the National Institutes of Health (NIH) is developing a Strategic Plan for Data Science. This plan describes NIH’s overarching goals, strategic objectives, and implementation tactics for promoting the modernization of the NIH-funded biomedical data science ecosystem. As part of the planning process, NIH has published a draft of the strategic plan, along with a Request for Information (RFI) to seek input from stakeholders, including members of the scientific community, academic institutions, the private sector, health professionals, professional societies, advocacy groups, patient communities, as well as other interested members of the public. Please submit responses using the link below by April 2, 2018.
The deadline to nominate a colleague for the inaugural FNIH Trailblazer Prize for Clinician-Scientists (Trailblazer Prize) is March 30, 2018 at 1pm EDT. This annual prize and $10,000 honorarium presented by the FNIH recognizes the outstanding contributions of early career clinician-scientists in the United States whose work has the potential to or has led to innovations in patient care.
According to the American Medical Association, the percentage of physicians engaged in research and teaching has decreased in past decades. This concerning statistic means that there are fewer clinician-scientists that play the vital role of understanding basic biology and scientific discovery while considering the potential benefits to patients. Through the Trailblazer Prize, the FNIH celebrates the transformational work of clinician-scientists, whose research translates basic scientific observations into new paradigm-shifting approaches for diagnosing, preventing, treating or curing disease and disability.
Andrea Gaedigk, PhD, Director of the Pharmacogenetics Core Laboratory at Children’s Mercy Hospital Kansas City and the PI of the PharmVar Consortium, and Neil Miller, Director of Bioinformatics, Center for Pediatric Genomic Medicine at Children’s Mercy Hospital Kansas City
Understanding individual response to drugs plays a central role in precision medicine. As pharmacogenetic testing becomes more and more prevalent, it’s crucial that the clinical and research communities have a global resource that provides nomenclature for defining and reporting genetic variants that help guide drug choice and dosing in adults and children. This resource also needs to keep up with the new era of genomics and the rate at which we’re finding new allelic variants.
After more than 15 years, the Human Cytochrome P450 Allele Nomenclature website, which has been the established authority for issuing and maintaining allele designations, has been transitioned to the Pharmacogene Variation (PharmVar) Consortium. This new home will serve as a centralized “Next-Generation” Pharmacogene Variation data repository and support the continued development of pharmacogene nomenclature.
The first version of the PharmVar database will be launched by the end of March and will contain the high-priority CYP2C9, CYP2C19 and CYP2D6 genes, while other P450 genes will be transferred into the PharmVar database soon thereafter. One particular feature of the new database is easy switching between different reference sequences making finding positions of sequence variants a breeze. The database will eventually also feature customizable tables showing alleles and regions of interest, an API for programmatic access, sequence alignments, and user options of downloading variant sequences.
Anyone in academia, industry or clinical test labs can submit new allele definitions. Data will be included in the database after review by a group of experts. This is truly a community process involving gene experts from around the world that will help provide new definitions and high-quality data for everyone to use.
In addition to a transparent submission and review process, the PharmVar database will assign unique version numbers to haplotype definitions, genes and database releases to enable robust tracking of nomenclature data and simplifying the task of determining the exact allele definitions used in a particular analysis or described in a publication.
It’s important for the community to have one place that keeps track of all these variations because it allows us to standardize the names we use to describe the variants and ensure we are all speaking the same language.
Pharmacogenomics is positioned at the leading edge of genomic medicine, and there have been huge advances made in using DNA testing to guide drug choice and dosage. This individualized approach allows for treatment to be customized to a particular patient instead of the one-size-fits all dosing model. Pharmacogenetic testing is increasingly used at our institution and many others to guide treatment for behavioral disorders such as ADHD. The next frontier is using genomics in everyday health care for every patient.
Right now, a lot of actionable data is sitting in silos in hospitals and data centers around the world, because we are sure many of our peers just haven’t found a home for it yet. PharmVar hopes to address this by establishing one place to keep track of variation. Providing a systematic catalog is a key part to successful implementation of pharmacogenetics into the clinic, and we hope this resource will have an impact on individualized patient care and health outcomes.
From Francis Collins' 1/11/18 blog post:
As many of you may know, the National Institutes of Health (NIH) plans to end funding to the Pharmacogenomics Research Network once the current grants expire in 2020. Accordingly, the PGRN is looking to the future of pharmacogenomics research and implementation by partnering with other organizations and potentially forming a new global pharmacogenomics consortium.
We would like to get feedback on how a new PGx consortium would best serve the community, so please complete the survey link below (and forward to any other PGx researchers you may know) by February 9, 2018.
Survey Link: https://ucsf.co1.qualtrics.com/jfe/form/SV_a44wfkmSYHvrKWp
We are excited to be conducting a national search for a new position as Director of Phamacogenomics and Henry Rutgers Professor of Phamacogenomics, a senior faculty position at Rutgers Biomedical & Health Sciences (RBHS) of Rutgers, The State University of New Jersey.
Please read the recruitment letter for details and to apply:
The All of Us Research Program aims to build one of the largest, most diverse datasets of its kind for health research, with one million or more volunteers nationwide, who will sign up to share their information over time. Researchers will be able to access participants’ de-identified information for a variety of studies to learn more about the biological, behavioral, and environmental factors that influence health and disease. Their findings may lead to more individualized health care approaches in the future.
All of Us is collecting ideas through something called a “use case” that describes a health problem or research question of interest. These ideas will be considered at a Research Priorities Workshop in March 2018 and help the program identify new features to add to support research across a range of health topics.
You may provide input through February 9, 2018, at https://allofusresearchpriorities.ideascale.com/.
The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database published in Clinical Pharmacology & Therapeutics
The Human Cytochrome P450 (CYP) Allele Nomenclature Database, a critical resource for the pharmacogenetics and genomics communities, has transitioned to the Pharmacogene Variation (PharmVar) Consortium. In this update we provide a summary of the current database, provide an overview of the PharmVar consortium, and highlight the PharmVar database which will serve as the new home for pharmacogene nomenclature.
The PGRN Best Trainee Abstract Awards were presented on October 19, 2017 at the Pharmacogenomics Poster Session at the ASHG 2017 Annual Meeting to the following individuals:
We congratulate these winners and all participants for their excellent presentations of cutting-edge pharmacogenomics research.
The American Physiological Society Journal ‘Physiological Genomics’ is has released a new article format developed exclusively for small-scale SNP data to be rapidly peer-reviewed, called PG SNPs. Associations reported may be as few as a single SNP validation study for any complex polygenic trait. Manuscripts submitted under this peer-reviewed Call for Papers are limited to 2 pages and are required to be presented in the template format designed exclusively for PG SNPs. To facilitate the submission process of such manuscripts with a small but definitive dataset, authors will have access to an easy-to-use, pre-existing template to generate the manuscript. For links to the manuscript submission file formats developed specifically for the PG SNPs article type and other details, please visit
The Hub team