March 2024: The Medical Genome Initiative’s second publication of 2024 is now available online! “Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action” provides a summary of current access to genome sequencing and considerations for stakeholders to overcome challenges and ensure the benefits of this technology are available for all individuals affected by rare disease. Read the paper here!
February 2024: The Medical Genome Initiative is excited to share their latest publication, “Evidence review and considerations for use of first line genomic sequencing to diagnose rare genetic disorders” available online. Congratulations to all of the authors on this comprehensive review!
An expert review panel was convened by the Medical Genome Initiative to perform a focused literature review followed by an exploratory meta-analysis using random effects model to generate a point estimate for diagnostic yield accounting for cohort size and number of diagnoses per cohort. Seventy-one studies met inclusion criteria. Using the point effects model, the diagnostic yield of genome sequencing (GS) across all studies was 34%. Clinical utility was reported in 32% of studies with a range of 20-100%. Based on the extensive review, the expert panel developed five recommendations about when GS should be considered. Future studies in the pediatric and adult populations may enable further refinement of these recommendations.
Read the paper here
The Medical Genome Initiative-led Manuscript on the Rate of Variants of Uncertain Significance (VUS) From Genomic Sequencing vs Multi-Gene Panel Testing is Available Online at Genetics in Medicine CLICK HERE
August 2, 2023: Last year, the Medical Genome Initiative brought together 19 diagnostic laboratories performing genetic/genomic testing to test the hypothesis that the rate of inconclusive results due to VUS were greater in exome/genome sequencing (ES/GS) compared to multi-gene panel (MGP) testing. Watch Dr. Heidi Rehm discuss this significance of this study in more detail.
WHAT DID THE AUTHORS FIND?
After analyzing results from nearly 1.5 million diagnostic ES/GS and MGP tests, they found that the rate of inconclusive results due to VUS was not significantly higher in ES/GS compared to MGP testing (22.5% vs 32.6%, respectively; p < 0.0001). Further, significantly lower VUS rates for ES/GS testing were found in disease areas such as cardiovascular, neurologic/muscular, metabolic, and neurodevelopmental/intellectual disability/autism.
THE MEDICAL GENOME INITIATIVE
This work represents a key strength of the Medical Genome Initiative in that it fosters communication and collaboration across different organizations and institutions, all of whom share a common goal of increasing access to genomic testing for the patients by removing barriers and addressing key challenges that impact the field as a whole.
Medical Genome Initiative and ClinGen Host Joint Reception at 2022 ASHG Annual Meeting
When: Wednesday, October 26, 7-9pm PT
Where: Los Angeles Convention Center, Room 406
Heidi Rehm, Erin Riggs and Christian Marshall will give brief presentations to share organizational updates and opportunities to get involved in both the Medical Genome Initiative and ClinGen
Please RSVP using this link: https://www.surveymonkey.com/r/ASHGreception
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.” This paper presents consensus recommendations on clinical WGS analytical validation for the diagnosis of individuals with suspected germline disease, including practical advice for test development optimization, validation practices and ongoing quality management.
The full manuscript can be accessed online here. The publication was authored by the analytical validity working group on behalf of the Medical Genome Initiative.
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.” This paper outlines the consortium’s aims of expanding access to WGS for rare disease through the development of laboratory and clinical best practices. The full manuscript can be accessed online here. The publication was authored on behalf of the Medical Genome Initiative by the steering committee members.
Leading Health and Research Organizations Collaborate to Launch the Medical Genome Initiative
Consortium aims to expand access to high-quality clinical whole genome sequencing for genetic diseases
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. The Initiative will focus on the publication of common laboratory and clinical best practices for the application of cWGS. Founding member institutions of the Medical Genome Initiative include Baylor Genetics; Broad Institute of MIT and Harvard; HudsonAlpha Institute for Biotechnology; Illumina, Inc.; Mayo Clinic; Rady Children’s Institute for Genomic Medicine; The Hospital for Sick Children (SickKids Toronto); and Stanford Medicine.
Rare genetic diseases affect more than 350 million people globally and are a particularly significant source of morbidity and mortality among children, who commonly experience multiyear diagnostic evaluations with multiple misdiagnoses.1 cWGS is a comprehensive method for analyzing the human genome in a clinical setting, and emerging evidence shows cWGS can detect most forms of clinically relevant variation for patients with a rare genetic disease.2 Early deployment of cWGS 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. For cWGS to be implemented at scale, recommended best practices are useful to guide the clinical community, and the Medical Genome Initiative was created to address this need.
“With the launch of this consortium, we’re bringing together clinical laboratory and medical genomics experts who are pioneering the application of cWGS in routine clinical testing and clinical research for patients with genetic diseases,” says Christian Marshall, Ph.D., co-director of the Centre for Genetic Medicine at SickKids and Chairperson of the Medical Genome Initiative. “Emerging evidence on cWGS is positive, but clinical laboratories and health care systems looking to implement this technology for genetic-disease populations lack recommended best practices to inform test validation and deployment. By coming together, the Initiative can provide an informed perspective on how to best implement this promising new technology and measure its utility.”
Initial topic areas of focus for the Initiative include cWGS analytical validity, clinical utility measures, clinical data infrastructure and data sharing. Visit the Medical Genome Initiative website for more information.
About the Medical Genome Initiative
The Medical Genome Initiative is a consortium of leading clinical laboratories in the U.S. and Canada with a mission to expand access to high-quality clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease. The initial focus of the Medical Genome Initiative will publish recommended laboratory and clinical practices for cWGS, along with common clinical research frameworks for demonstrating its value.
Contact
(858) 295-9358
info@medgenomeinitiative.org
1 Global Genes; https://globalgenes.org/rare-diseases-facts-statistics/
2 Lionel et al. Genet Med. 2018 Apr;20(4):435-443
Contact Us
Learn more about The Medical Genome Initiative and get answers to your questions.
The Medical Genome Initiative ©2023. All Rights Reserved.