Our Mission

The Medical Genome Initiative aims to expand access to high-quality clinical whole genome sequencing (WGS) for the diagnosis of genetic diseases, through the publication of common laboratory and clinical best practices.

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.

Medical Genome Initiative Consortium Members


Steering Committee Members

  • Euan Ashley, MD, PhD, Stanford Medicine
  • John Belmont, MD, PhD, Illumina
  • David Bick, MD, HudsonAlpha Institute for Biotechnology
  • David Dimmock, MD, Rady Children’s Institute for Genomic Medicine
  • Vaidehi Jobanputra, PhD, New York Genome Center
  • Hutton Kearney, PhD, Mayo Clinic
  • (Chairperson) Shashikant Kulkarni, PhD, Baylor Genetics & Baylor College of Medicine
  • Christian Marshall, PhD, The Hospital for Sick Children (SickKids)
  • Heidi Rehm, PhD, The Broad Institute of MIT and Harvard


Best Practices for Applying Clinical WGS in Rare, Undiagnosed, and Genetic Diseases

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