Publication: GA4GH: International Policies and Standards...

I was a contributor to this work and am recognized as an author on the related publication.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

GA4GH Website

Rehm HL, et. al.; (2021) TGA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics; Volume 1, Issue 2: 100029. ISSN 2666-979X. doi:

About My Involvement in GA4GH

I have been an active volunteer member of the Global Alliance for Genomic Health (GA4GH) since late 2018. This organization was established in 2013 to accelerate the potential of research and medicine to advance human health. Their approach is to bring together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data.

I originally participated on behalf of ORCID as a member of the Data Use & Research Identities (DURI) Workstream which is writing standards to identify and verify the researchers that access genomics datasets and ensure accurate models for assessing data use. In 2019, I assumed the role as co-chair of the Equity, Diversity & Inclusion Advisory Group. This team is focused on ensuring diversity and inclusion among the volunteer membership the creates and contributes to GA4GH’s standards and policies with the goal of ensuring global equity for the use of these standards.

In addition to leading the EDI work for the organization, I am a frequent speaker, writer, and contributor to GA4GH work, and serve on the GA4GH Steering Committee.