A group of more than 150 scientists and stakeholders from six continents have created a plan to accelerate the understanding and treatment of common diseases — such as diabetes, schizophrenia, heart disease, Alzheimer’s disease, and many more — by developing ways to drive systematic progress from Maps to Mechanisms to Medicine (M2M2M).
- The ICDA White Paper describes progress over the past two decades to use genetics to systematically understand the biological basis of common diseases — which has led to the discovery of more than 70,000 robust associations between specific genetic regions and human diseases, and led to the identification of many new disease genes and mechanisms — and outlines remaining barriers to progress — including the current difficulty in connecting genetic variants to the target genes, cell types, and biological pathways in which they act.
- The ICDA Recommendations report proposes specific actions — concerning international collaborations, data resources, critical infrastructure, policy needs, and equity considerations — to overcome the barriers to progress.
To help implement the ambitious goals, the ICDA has established eight expert Working Groups, which will work with the international scientific community and funders, to jump-start priority projects, policies, and activities.
"There are many promising efforts around the world to bridge genetics and disease biology," said Professor Cecilia Lindgren, professor of genomic endocrinology and metabolism at the University of Oxford. "In developing these Recommendations and White Paper, ICDA has sought to act as a convener — providing a venue for conceiving ideas, developing plans, and, where appropriate, coordinating across individual projects to make progress." Lindgren is a co-chair of the ICDA Organizing Committee, which consists of 35 members representing 15 countries and five continents. The other co-chair is Eric Lander, president and founding director of the Broad Institute.
ICDA was formally launched in September 2019 at an international meeting near Washington DC co-hosted by the US National Institutes of Health, following nearly a year of planning by scientists around the world. It brings together the international scientific community — across academia, medicine, biopharma companies, tech companies, and biomedical funders — to conceive collaborative efforts to drive progress and develop clear plans for consideration by researchers and funders, including ongoing engagement with NIH. ICDA itself is not intended to decide or fund projects.
“In this blueprint for the next major advances in the genetics of common disease, the ICDA has brought together two critical engines for discovery: advanced research and international collaboration,” said Francis Collins, Director of the National Institutes of Health. “ICDA’s goals carry the promise of improving the health status of peoples across the world.”
“ICDA is an incredibly timely and well placed effort, bringing together a range of stakeholders from different communities, to accelerate the progress from genetic discovery to therapeutic strategies,” said Professor Sir John Bell, Regius Professor of Medicine at the University of Oxford and Chairman of the Office for Strategic Coordination of Health Research in the United Kingdom. “I am delighted to see the development of international efforts such as ICDA that are well-aligned with ongoing efforts in the UK, and especially with the vision of the Life Sciences Offices.”
The ICDA Recommendations report contains specific recommendations in key priority directions:
- Flagship Disease Projects. As an overarching effort, ICDA proposes that flagship disease projects be launched for at least 10 common diseases — with each serving as testbeds for new approaches and for regularly assessing progress in the ability to translate genetic findings to disease pathways.
- Biobanks. Prospective biobanks with extensive genetic and phenotypic information from participants are emerging as a key resource for M2M2M efforts. ICDA urges efforts to expand the breadth of biobanks, including increasing ancestry diversity by creating new biobanks in Africa, the Americas, and Asia and driving best practices to create biobanks within existing medical systems.
- Expanding genetic resources. ICDA describes the needs for foundational genetic resources to support M2M2M efforts — including projects to drive comprehensive discovery of genetic variation around the globe, to make catalogs of genetic results that are maximally useful for the scientific community, and to support genetic analysis among biobanks across the globe.
- Cellular Mechanisms. ICDA proposes the launch of three bold foundational projects that are key to understanding the cellular role of genetic variants in human disease — including systematically mapping all regulatory elements to their target genes; identifying all cellular regulatory programs; and systematically characterizing all common protein-coding variants.
- Medicine. While foundational resources are important, disease-specific approaches are critical for developing therapies for specific diseases and improving clinical care. To accelerate such efforts, ICDA proposes efforts to advance methods for developing disease-specific functional assays, biomarkers, and genomically informed clinical trials.
- Data Platforms. A federated ecosystem of software and data resources will be crucial for enabling storage, curation, access, analysis, and dissemination of data and results for use by the global community. ICDA proposes specific efforts including the development of the open-source data platforms, data portals, and gold-standard datasets.
- Policies and Ethics. ICDA proposes activities to develop well-crafted policies to promote data sharing, protect participants, comply with national regulations, and respect cultural perspectives and ethics.
- Global Equity. ICDA supports efforts to ensure global inclusion and equitable access to drive, participate in, and benefit from scientific research toward M2M2M.