Doug Fowler, Ph.D.: 'We have rededicated ourselves... to ensure this atlas is a reality by 2030, helping clinicians manage their patients’ diseases and save lives.'
A group of researchers, clinicians, funders, and other stakeholders has developed recommendations to create a clinical atlas of genetic variant effects by 2030. The atlas would have “profound implications for understanding human biology and diagnosing and managing disease,” according to a three-page summary of the meeting at the University of Pittsburgh in July that produced the recommendation.
The imperative for creating the atlas was explained in the summary.
“We remain largely unable to interpret the simplest single-nucleotide genetic changes, even in the genome’s best-understood (protein-coding) regions,” the summary stated. “These clinically uninterpretable variants end up as Variants of Uncertain Significance (VUS), which cannot be used to diagnose or treat disease. But a confluence of experimental and computational technologies have enabled determination of single nucleotide variant effects at scale.”
Three people from the Brotman Baty Institute – Principal Investigators Drs. Lea Starita, Ph.D., and Doug Fowler, Ph.D., along with Lara Muffley, Director of Program Operations for the UW Department of Genome Sciences – participated in the meeting.
“This unprecedented meeting brought together important stakeholders to discuss, debate, and come to a consensus on a roadmap for the atlas many of us for years have been advocating for,” said Fowler. “Those of us who participated, we have rededicated ourselves and many of our colleagues to ensure this atlas is a reality by 2030, helping clinicians manage their patients’ diseases and save lives.”
In addition to Fowler, Starita, and Muffley, more than 40 others from universities and funding organizations attended, including: the National Institutes of Health, National Human Genome Research Institute and the National Cancer Institute, as well as the Chan Zuckerberg Initiative, AstraZeneca, and Google DeepMind.
The summary notes that AI will play a pivotal role in the atlas, “guiding experiments and predicting variant effects…. Tight integration of AI and experiments is urgently needed, both to optimize allocation of experimental resources and to deliver high-quality variant effect information.”
In a “draft roadmap to 2030,” the participants concurred four areas of work will be integral to achieving the atlas: technology, infrastructure and standards, clinical translation, and data production and coordination:
- Technology: “Explore and exploit synthetic biology approaches to dissect gene regulation and protein structure - function.
- Infrastructure and standards: “Create a global data coordinating center to drive data standardization and dissemination.”
- Clinical translation: “Provide training to clinicians regarding the use of experimental and predictive data.”
- Data production and coordination: “Develop infrastructure to build large-scale production centers and empower small/medium scale producers;” and “ensure that data generation is equitable with respect to different populations and communities.”
The summary of the conference is available here.
