A consortium, led by the White House Office of Science and Technology Policy, has released the COVID-19 Open Research Dataset (CORD-19), a machine-readable dataset of over 29,000 scholarly articles for COVID-19 and the coronavirus family. This consortium now calls on data scientists to develop tools to help scientists extract and synthesize knowledge from this dataset.

Baylor College of Medicine is hosting a hackathon on April 19-21 to join the fields of structural variation calling and graph genomes. Registration is open until March 15th.

Ensuring that federally funded health research keeps pace with the explosion of health data depends on better information technology (IT), access to high-quality electronic health data, and supportive policies. Because it prominently funds and conducts health research, the U.S. federal government needs health IT to rapidly evolve and has the ability to drive that evolution. The Office of the National Coordinator for Health Information Technology developed the National Health IT Priorities for Research: A Policy and Development Agenda (the Agenda) that identifies health IT priorities for research in consultation with relevant federal agencies. This article describes support for the Agenda from the Food and Drug Administration, the National Institutes of Health, and the Veterans Health Administration. Advancing the Agenda will benefit these agencies and support their missions as well as the entire ecosystem leveraging the health IT infrastructure or using data from health IT systems for research.

On February 20, 2020, the U.S. Food and Drug Administration (FDA) introduced a new web-based resource that describes some of the gene-drug interactions for which FDA believes there is sufficient scientific evidence to support the described associations between certain genetic variants, or genetic variant-inferred phenotypes, and altered drug metabolism, and in certain cases, differential therapeutic effects, including differences in risks of adverse events. This resource represents a collaborative effort between the FDA’s Center for Devices and Radiological Health (CDRH) and Center for Drug Evaluation and Research (CDER) and is intended to provide the FDA’s current view of certain established gene-drug interactions that appear in FDA-approved drug labeling and additional gene-drug interactions that are consistent with the current FDA labeling and are supported by sufficient scientific evidence based on published literature. The FDA will continue to review the science and strength of the scientific evidence and update this resource periodically. The FDA has opened a docket FDA-2020-N-0839 for stakeholders to provide feedback.

If you are interested in learning more about how FDA is modernizing its data strategy, including data quality, data stewardship, data exchange, and data analytics, attend the “Modernizing FDA’s Data Strategy” public meeting on March 27th!

Join the challenge to advance techniques for surveillance and detection of adverse events associated with FDA products. Submissions are being accepted until February 28th.

FDA’s technology modernization will be informed by direct engagement with stakeholders. As an example of stakeholder engagement, FDA has used PrecisionFDA to provide a community platform for the evaluation of next-generation sequence data and regulatory exploration.

The precisionFDA CDRH Biothreat Challenge addressed the need for a comprehensive citizen-science benchmarking study of infectious disease NGS diagnostic classification algorithms.

Stay up to date on the latest precisionFDA news and challenge information

PrecisionFDA and Georgetown-ICBI are launching the Brain Cancer Predictive Modeling and Biomarker Discovery Challenge! The goal of this challenge is to advance techniques for the prognosis and treatment of brain tumors by asking participants to develop machine learning and/or artificial intelligence models to identify biomarkers and predict patient outcomes using gene expression, DNA copy number, and clinical data.

Advancing the Regulatory Science of Omics via Crowdsourcing on the precisionFDA Platform

Breakout Session: Engaging the Global Community to Support and Inform Regulatory Science

Standardized benchmarking approaches are required to assess the accuracy of variants called from sequence data. Here, as part of the Global Alliance for Genomics and Health (GA4GH), we present a benchmarking framework for variant calling. We provide guidance on how to match variant calls with different representations, define standard performance metrics, and stratify performance by variant type and genome context. Our approach has been piloted in the PrecisionFDA variant-calling challenges to identify the best-in-class variant-calling methods within high-confidence regions. Finally, we recommend a set of best practices for using our tools and evaluating the results.

A top reviewer in US FDA's in vitro diagnostics office offers tips to next-generation sequencing test sponsors to avoid common submission shortcomings in this interview with Medtech Insight. According to FDA's Hisani Madison, sponsors frequently fall short in providing a refined intended-use statement.

The U.S. Food and Drug Administration today granted accelerated approval to a treatment for patients whose cancers have a specific genetic feature (biomarker). This is the first time the agency has approved a cancer treatment based on a common biomarker rather than the location in the body where the tumor originated.

New in May 2017, the NGS Reference Virus Database version 10.2 (unclustered and clustered).

In support of the White House’s Precision Medicine Initiative, the FDA issued two draft guidances that offer a streamlined approach to the oversight of ‘Next Generation Sequencing’ tests that detect medically important differences in a person’s genomic makeup.