Mainstreaming Genomics in Manitoba (MGM) is a Genomics Applied Partnership Program (GAPP) project supported by Genome Canada, Genome Prairie, and Research Manitoba, as well as in-kind contributions from Shared Health Manitoba and the University of Manitoba. MGM is one of several rare disease projects participating in the All For One Framework through Genome Canada.

The MGM project is the second phase of our previous GAPP project, the Canadian Prairie Metabolic Network (CPMN). The purpose of CPMN was to evaluate if integrating whole exome sequencing (WES) early in the diagnostic workup of patients suspected to have an inborn error of metabolism (IEM) (an “OMICS First” approach) offered advantages over the traditional model, in which a geneticist orders stepwise diagnostic testing. Through CPMN, we found that diagnostic odysseys were shortened and, due to our virtual care/remote format, health care providers and patients were successfully engaged.

MGM will build upon lessons learned in CPMN to further reduce the time required to obtain a diagnosis via WES. MGM introduces two models: 1) a “mainstreaming” model whereby non-genetics specialists can request WES for select patients, and 2) a “Multi-OMICS” pipeline to increase the diagnostic yield of WES. This approach continues our mission to increase access to genetic testing, shorten diagnostic odysseys, and expedite access to appropriate care. More details about the two components of MGM are provided below.

MGM will use both in-person and virtual appointments, with the aim to reduce both the volume of appointments and the amount of travel required. The MGM team will provide genetic counselling support and resources to care providers, as needed.

To refer a patient to either arm of the study please download the study referral form and email it to cpmn@umanitoba.ca or fax it to 204-789-3907.

Mainstreaming

MGM will explore whether “mainstreaming” of the “OMICS First” approach is feasible and achieves more timely diagnoses for Manitoba patients.

Mainstreaming is an alternative model of service delivery in which non-genetics specialists request genetic testing without prior referral to a genetics specialist. The MGM project uses a “modified mainstreaming” approach in which the MGM team (including a genetic counsellor) supports the referring non-genetics specialist by taking on many of the responsibilities involved in ordering genetic testing.

Multi-OMICS

MGM will explore whether other “OMICS” modalities can help to identify or clarify a diagnosis for patients with non-diagnostic WES results.

In collaboration with basic scientists, the “Multi-OMICS” pipeline incorporates bioinformatics, transcriptomics, proteomics, metabolomics, Drosophila (fruit fly) models, and induced Pluripotent Stem Cell (iPSC) studies to interrogate the functional consequences of genetic variants. The goal of these studies is to increase the diagnostic yield from uncertain WES results. Additionally, whole genome sequencing will be offered to some individuals with a negative WES result, in an effort to identify a genetic diagnosis. Both geneticists and non-genetic specialists may refer their patients for consideration of “Multi-OMICS” investigations.

For further information please contact Dr. Cheryl Rockman-Greenberg, Academic Lead of CPMN & MGM at cpmn@umanitoba.ca.