Medical Genome Initiative

Our Mission

The Medical Genome Initiative is a consortium founded by Illumina and leading institutions with significant interest and experience in evaluating human genomes for the genetic basis of diseases.

The Medical Genome Initiative is a consortium founded by leading institutions with significant interest and experience in evaluating human genomes for the genetic basis of diseases.

We believe early utilization of clinical whole genome sequencing (WGS) has the potential to deliver precise molecular diagnosis to enable change in medical management, thereby reducing the number of unresolved, complex, costly and chronic genetic disease cases, especially for newborns and children.

Our initial goal is to publish recommended laboratory and clinical best practices for the implementation of clinical WGS, as well as common clinical research frameworks for demonstrating the value clinical WGS brings to healthcare.

Clinical Whole Genome Sequencing

Clinical whole genome sequencing (WGS) is the laboratory process of sequencing all 3 billion base pairs in the human genome to identify a disease-causing mutation. Emerging evidence shows clinical WGS can detect most forms of clinically relevant variation for patients with a rare genetic disease¹. Clinical WGS has the potential to reduce the number of unresolved pediatric rare genetic disease cases, especially when utilized as a first-tier clinical test, eliminating the traditional lengthy and costly stepwise approach to genetic testing.

In the News

Medical Genome Initiative Publishes First Best Practices Paper

October, 2020 – NPJ Genome Medicine published the Medical Genome Initiative’s first best practices manuscript: “Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.”

Medical Genome Initiative Publishes Inaugural Manuscript

May 27, 2020 – Genome Medicine published the Medical Genome Initiative’s first paper: “The Medical Genome Initiative: Moving whole-genome sequencing for rare disease diagnosis to the clinic.”

Leading Health and Research Organizations Collaborate to Launch the Medical Genome Initiative

February 26, 2019 – Eight leading health care and research organizations in the U.S. and Canada have signed an agreement to launch the Medical Genome Initiative, a consortium that will work to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic diseases.