The MSH Advanced Molecular Diagnostics Laboratory: unique resources and activities
The Advanced Molecular Diagnostics Laboratory (AMD) at Toronto’s Mount Sinai Hospital (MSH) is a clinically certified lab that serves as an international reference centre for molecular diagnostics.
Our lab has been carrying out diagnostic testing for over 15 years, with special concentration on hereditary breast, ovarian (BRCA1, BRCA2); and colon cancer (Lynch syndrome, APC- and MUTYH-associated polyposis).
Our clinical services extend to tumour genotyping and microsatellite instability (MSI); KRAS; gastrointestinal stromal tumours (PDGFRA, cKIT); a variety of sarcomas; and coagulopathies (F2, F5, MTHFR, HFE).
The AMD, located within Mount Sinai’s Department of Pathology and Laboratory Medicine, works in direct collaboration with a team of pathologists on the floor.
Our work is backed by a number of crucial in-house resources, including one of the world’s largest collections of cancer-related patient samples, which also comprises a large number of tumour-normal tissues and DNA specimens.
As a service genetics lab for clinicians, AMD processes approximately 10,000 patient samples per year.
In our testing we rely on a variety of technologies, including ABI capillary-based di-deoxy-sequencing.
Our key next-gen platform uses Illumina’s HiSeq and MiSeq sequencing instruments, which will allow us to support and extend the service and research commitments made by MSH.
Our diagnostic activities currently occupy 2,000 square feet, and we are making plans to expand the testing areas to allow coverage of adult-onset and familial genetic disorders. We are one of the first clinical centers in Canada to offer exome sequencing on a routine clinical basis.
In addition to our core service activities, we are committed to providing molecular training to clinical fellows and other members of staff. In our educational and research activities, we work in close collaboration with a team of medical geneticists and genetic counsellors, based within the hospital and across the community.
Major research activities
In my prior research, clinical training and study I have focused on:
- inborn errors of metabolism
- type-2 diabetes
- connective tissue diseases
My current research goals are geared towards providing major improvements in the clinical sensitivity of genetic testing through greater reliance on new sequencing technology. To this end, my colleagues and I are developing a framework for the analysis and identification of a wide range of disorders characterized by late onset and variable penetrance.
A concurrent aim of my research is the identification of new genes and genomic variants of clinical relevance.
In one study, we are sequencing the exomes of cancer patients with a view to identifying novel genes and developing improved therapies. In carrying out this work, I will be making a concerted effort to determine the extent to which exome sequencing can be used in the diagnosis, treatment and prevention of disease, and to address the many challenges related to integrating genome sequencing into the general practice of medicine.