3 December 2021
This GA4GH Community Post is the seventh in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Lindsay Smith! As the Work Stream and Clinical Projects Manager at the Global Alliance for Genomics and Health (GA4GH), Lindsay manages international teams developing standards for the responsible sharing of genomic and health-related data. Her work supports the clinical adoption of genomics through establishing standardized information models to describe clinical data for use in genomic medicine and research, including the capture and exchange of information across electronic health records, research systems, registries, journals, and patient platforms. She also supports the development of policies and frameworks that focus on the ethical, legal and social implications of international data sharing. Lindsay is a strong advocate of a global ‘learning health system’, coordinating the sharing of tools, experience, and knowledge among large-scale national genomic initiatives.
Lindsay holds an MSc in Molecular Genetics with a collaborative specialization in Developmental Biology from the University of Toronto. Prior to joining GA4GH in 2019, she was a Clinical Research staff member at the Hospital for Sick Children in Toronto, investigating potential drug targets for rare neuromuscular disorders.
What current projects are you working on?
I am the Work Stream Manager for the Regulatory and Ethics and Clinical and Phenotypic Data Capture Work Streams, Coordinator of the Genomics and Health Implementation Forum (GHIF) and a key point of contact for coordinating GA4GH’s efforts with other standards development organizations. Some of the projects I’m supporting include finalizing an extensible model for pedigree and family health history information and developing a work plan for computable cohort representation. I’m particularly excited about the topics the Regulatory and Ethics Work Stream is exploring for their new roadmap, such as newborn sequencing, blockchain and ethical provenance, and machine learning bias. Given that many of the topics lie outside of my knowledge base, I’m looking forward to having the opportunity to learn about new technologies and innovations in genomics.
How do you think genomic data standards will shape the world in 20 years?
To me, the future of standardization is enabling a world where clinical geneticists can query all of the world’s genomic datasets at once to find unanticipated gene-disease associations and solve previously unsolvable cases; in which biologists and common disease researchers can interrogate cohorts large enough to achieve the power needed to detect all significant contributors to disease; and in which all qualified researchers can participate in genomics regardless of their means or location. This vision depends on a federated system for searching, discovering, exchanging, and analyzing genomic and clinical data that is built on standards and frameworks embraced by the broad genomics and health community.
What advice would you give to individuals seeking to get more involved with GA4GH?
Just get involved, and don’t be afraid to dive right into topics that are of interest to you. I think a lot of people come in with some hesitation, thinking “I’m not enough of an expert” or “I’m joining the effort late, what could I possibly contribute now?”. The truth is that you have a unique experience and perspective from everyone else in that group, and the entire GA4GH community is so welcoming and would be happy to help bring you onboard. So join a Work Stream or two, try reviewing a standard that’s open to public review and submit some comments, even if they’re just editorial (still very important!). The worst case scenario is that you’ll learn something new about your field!