Co-Lead, Clinical & Phenotypic Data Capture Work Stream

Shape the direction and strategy of the Clinical & Phenotypic Data Capture Work Stream, which aims to develop best practices, ontologies, and technical standards to describe clinical phenotypes for use in genomic medicine and research.

Closing date: 27 October 2023

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream Virtual

Job Description

About the team

The Global Alliance for Genomics and Health (GA4GH) ( is a global volunteer standards development organisation dedicated to realising the potential of genomics in health. Supported by staff across four Host Institutions (Ontario Institute for Cancer Research, Broad Institute of MIT and Harvard, Wellcome Sanger Institute, and EMBL’s European Bioinformatics Institute), members of the genomics community provide expert leadership to GA4GH Work Streams. These include the Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, which creates best practices, ontologies, and technical standards to describe the clinical phenotype for use in genomic medicine and research, including the capture and exchange of information between electronic health records and research systems. Examples of current Clin/Pheno products include Phenopackets, a standard for phenotypic data exchange, and Pedigree (in development) to computationally represent family health and relationships.

We would like to invite expressions of interest in the volunteer role of Clin/Pheno Co-Lead.

Your role

This is an opportunity to be at the heart of GA4GH standards development and integration work. Working closely with another Co-Lead and members of the GA4GH staff, the Clin/Pheno Co-Lead will contribute to the leadership and direction of Clin/Pheno Work Stream efforts, in line with wider GA4GH direction and goals as set at an organisational level. This involves developing the Clin/Pheno strategy, identifying work that can be taken forward by the group, chairing calls, working through technical issues as a group, listening, and building consensus. As Clin/Pheno works with groups from across GA4GH and the world, considerable liaison work will be involved, along with the need to engage with other teams both within GA4GH and externally.

Why join us

GA4GH is committed to developing the standards necessary to enable the potential benefits of genomics in health to be made a reality, and to supporting the global data sharing and interoperability that this requires. With a global volunteer community made up of hundreds of individuals from a variety of organisations and institutions, GA4GH provides an active environment in which to drive these aims forward while building on our foundational commitments to human rights, ethics, and security.

Having a truly global and diverse community of contributors and leadership is key to GA4GH’s work. We are actively pursuing strategies to increase participation through our engagement and equity, diversity, and inclusion work. We are committed to providing an inclusive and welcoming environment for all contributors at all levels in GA4GH and welcome expressions of interest from all interested individuals.

For more information or an informal discussion of the role, please contact Beatrice Amos.


You have

  • substantial experience in bioinformatics, genomics, clinical informatics, or related disciplines;
  • an expertise of data standards used in healthcare such as HPO, HL7 (v2 and FHIR), OMOP, SNOMED, etc.;
  • experience working with clinical research data or clinical groups using genomics and related data;
  • an ability to work effectively with and provide leadership to a broad range of people from multiple disciplines and cultures;
  • the ability to engage with others, explore multiple points of view, and build consensus;
  • the capacity to identify opportunities aligned with the group’s goals and translate these into actionable plans;
  • a demonstrable ability to work collaboratively;
  • an understanding of the complexity and importance of clinical and phenotypic data standards in genomics, with previous experience in this area and a deep understanding of the need for standards to work internationally.

You might also have

  • experience of working with GA4GH or other standards development organisations;
  • experience of working as part of a volunteer community;
  • experience working with custodians, producers, or consumers of genomic data;
  • experience working on or with a project for sharing genomic data between organizations;
  • experience with implementing a digital solution in healthcare or working with electronic health records;
  • experience with data modelling and harmonisation, ontologies, terminologie,s and codesets.