The Sulston Project: Making the Knowledge Commons for Interpreting Inherited Cancer Risk More Effective
The Sulston Project is a joint research effort at Arizona State University and Baylor College of Medicine named after John Sulston, the champion of open science who, with Bob Waterston, crafted the Bermuda Principles for daily prepublication sharing of DNA sequence data in the Human Genome Project. That open science ethos permeates genomics, but only incompletely. Building an effective knowledge commons is essential for advancing knowledge and improving clinical care of those who inherit variants that increase their risk of cancer.
Cancer genes are among the most thoroughly studied in the human genome (or any other genome), and interpreting the clinical significance of variants has high stakes for those who harbor such variants in their bodies and face fateful decisions about avoiding or managing cancer. Management of data is also a key feature of a vibrant and fast-moving domain of biomedical research. Millions of genetic tests for inherited risk of cancer have been administered since commercial testing of BRCA1/2 variants began in 1996, and as clusters of genes associated with colorectal cancer soon followed. More than 40,000 BRCA1/2 variants were listed in BRCA Exchange in 2020, and new variants continue to be found. Determining the clinical significance of those variants will be a challenge. As hereditary cancer testing panels transitioned to sequencing dozens of genes, rather than only expressed segments of BRCA1/2 and a handful of colorectal cancer genes, the information needed to advance biomedical research and to determine the clinical significance of cancer-gene variants vastly exceeded the capacity of any one lab or institution. The knowledge commons surrounding cancer genes is thus a good place to examine how data about genomic variants are generated, curated, shared, and interpreted.
The nascent knowledge commons for interpreting genomic variants affecting inherited cancer risk is essential to advancing science and improving clinical care. The Sulston Project will carefully examine the issues in developing and sustaining a commons to interpret cancer-risk variants, and then generate policy options for challenges identified as most important and feasible to address by engaging expert stakeholders and relevant constituencies in a systematic modified policy Delphi process, including: data contributors and end-users, data generators, data sources, data facilitators, and professional data users. It is also examining the history of data resources, the advocacy movement, and how intellectual property influences data-sharing practices. The Project is also, in collaboration with others, exploring access to, use of, and concerns about genetic tests to assess cancer risk among three communities under-represented to date: Indigenous communities, Latine/Hispanic communities, and African American women. Findings from all these lines of research will be translated into findings and policy options for audiences that can act on them.
For more information visit The Sulston Project online.