UCSC researchers double-down on data sharing’s key role in global health

Scientists present framework for freely and safely sharing health data on a global scale in a brand new, open access journal

SANTA CRUZ, CA – Nov. 16, 2021 – Consistent with its long tradition of championing sharing of genomic data, UC Santa Cruz is represented among Global Alliance for Genomics & Health (GA4GH) paper authors featured in a special edition of the new journal Cell Genomics. 

Titled “GA4GH: International policies and standards for data sharing across genomic research and healthcare,” first author and GA4GH vice-chair Heidi Rehm and GA4GH community co-authors present the organization’s strategies for addressing some of the most pressing challenges of the genomic data revolution. The authors present the GA4GH toolkit of secure, interoperable technical standards and policy frameworks, their relevance to key domains of research and clinical care, and the organization’s future plans. 

Genomics Institute and Baskin Engineering Associate Research Scientist Melissa Cline, who is a GA4GH Steering Committee member and GA4GH Driver Project Champion for the BRCA Challenge, was co-author on the showcase paper, which provides a high-level overview of the GA4GH organization, deliverables, and strategy for enabling interoperability across the international genomics landscape.  Dr. Cline is also a co-author on the commentary article “International federation of genomic medicine databases using GA4GH standards” and the technology article “The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification”, and one of the GA4GH contributors featured in “Voices of GA4GH members: Collaborating in technology and policy development”.

“Identifying opportunities and mechanisms to share data is an active area of my research and one in which the UC Santa Cruz Genomics Institute is proud to participate,” Cline said. “We can share genetic data safely, without divulging patient privacy, so that we can better understand our genetics and better manage our inherited disease risk,” Cline added.

Dr. Cline led the development of brcaexchange.org, a web portal dedicated to sharing information on mutations in the BRCA1 and BRCA2 genes and their role in cancer. BRCA Challenge, an international collaboration that strategizes on the development of BRCA Exchange, was first launched by the GA4GH as a Demonstration Project to pioneer the responsible sharing of data on genetic mutations.

The new journal Cell Genomics is launching as the first premier research journal in the field to adopt the highest level of open access publishing where all publications, articles and related content are immediately and freely available on the journal’s website. 

UC Santa Cruz Genomics Institute Scientific Director David Haussler, who preceded Heidi Rehm as GA4GH vice-chair until December 2018, remains involved as a BRCA Exchange co-lead. It is through this sustained support of international, collaborative data sharing initiatives — as well as through championing data sharing for the public good — that UC Santa Cruz genomics scientists show their commitment to openly and responsibly sharing health data. 

This tradition was launched more than 20 years ago with UCSC’s publication of the human genome to the internet, ensuring it would remain free for all humanity. The Genome 10k, which inspired an international project that will sequence every living creature on Earth, was founded at the UCSC campus. This was followed by the Treehouse Childhood Cancer Initiative, also founded at UCSC, in part to share genomic pediatric cancer data between institutions. More recently, UC Santa Cruz Genomic Institute faculty and leadership penned an editorial published in Nature in 2021, demanding that gatekeepers “share pandemic sequences openly and fast” so that urgent research on SARS-CoV-2 can be prioritized for the common good. The UCSC Genome Browser team’s evolutionary tree of COVID data has surpassed 5M sequences, providing an invaluable resource for contact tracing and related research.

Last modified: Aug 19, 2024