GA4GH Clinical & Phenotypic Data Capture Work Stream welcomes new Co-Lead Mónica Muñoz-Torres of the University of Colorado

8 Dec 2023

Mónica Muñoz-Torres of the University of Colorado School of Medicine will join Mélanie Courtot as Co-Lead of the GA4GH Clinical & Phenotypic Data Capture Work Stream.

To expand the use of clinical information in research and medicine, Mónica Muñoz-Torres will serve as Co-Lead of the Clinical & Phenotypic Data Capture Work Stream of the Global Alliance for Genomics and Health (GA4GH), alongside Mélanie Courtot. Through an open application and nomination process, the GA4GH Executive Committee selected Muñoz-Torres from the candidates to fill the post.

Together, Muñoz-Torres and Courtot will lead the development of a suite of tools to help the genomics community harness phenotypic, clinical, and family health history information to improve human health.

Muñoz-Torres is Associate Professor of Biomedical Informatics at the University of Colorado School of Medicine, and Program Director of the Monarch Initiative and Phenomics First Resource. Her research mission is to leverage the world’s comparative genomics knowledge to advance our understanding of human health and disease. 

“The amount of data in the world is incredible,” said Muñoz-Torres. “We have genomic data, ontology data, health data, phenotypic data, and more. The work of the GA4GH Clinical & Phenotypic Data Capture Work Stream is vital to generate the standards needed to safely and efficiently share this information and derive useful insights.”

A long-time contributor to the Clinical & Phenotypic Data Capture Work Stream, Muñoz-Torres has shaped the development of GA4GH products such as Phenopackets and Pedigree.

Muñoz-Torres will lead the Work Stream with Courtot, who is Director and Principal Investigator of the Genome Informatics program at the Ontario Institute for Cancer Research (OICR).

“In order to realise the promise of precision medicine, we need to build intelligent systems that can work not only with genomic data, but also with phenotypic information, electronic health records, and even environmental factors. It is vital we look at the whole patient-centric ecosystem,” said Courtot. “I’m delighted to be leading the GA4GH Clinical & Phenotypic Data Capture Work Stream with Mónica to develop the standards and tools needed to impact patient outcomes.”

Muñoz-Torres will succeed David Hansen, CEO and Research Director of Australian e-Health Research Centre at the Commonwealth Scientific and Industrial Research Organisation (CISRO). Hansen has served as Co-Lead of the Work Stream since 2017.

“It’s been a pleasure co-leading the GA4GH Clinical & Phenotypic Data Capture Work Stream for the past six years,” said Hansen. “We’ve released important standards like Phenopackets, which has opened up the way the community shares phenotypic and clinical information. The Work Stream has also made great progress on developing tools to share pedigree and family health history information. I am excited to see Mónica and Mélanie advance this work.”

In the new year, Muñoz-Torres and Courtot are excited to investigate new areas where the Clinical & Phenotypic Data Capture Work Stream can make an impact.

“Our recently launched Study Groups focused on cohort representation and pharmacogenomics offer a great opportunity to explore potential future GA4GH standards,” said Muñoz-Torres. “I am excited to help take the Work Stream in new directions so that we can continue to realise the potential of linking the world’s genomic data to clinical and phenotypic information.”

Those interested in getting involved with the Clinical & Phenotypic Data Capture Work Stream are invited to join.