Martin Somerville

Department of Laboratory Medicine & Pathobiology - Molecular Genetics


Hospital for Sick Children (SickKids)
555 University Ave., Paediatric Laboratory Medicine, Toronto, Ontario Canada M5G 1X8
Clinical Interests
Molecular Genetics
Appointment Status

Professional Memberships

  • College of Physicians and Surgeons of British Columbia Diagnostic Accreditation Program

Martin Somerville, is the Head of the Division of Genome Diagnostics at the Hospital for Sick Children.

He obtained his BSc and MSc from the University of Western Ontario, his PhD from the University of Toronto, and completed his Fellowship in clinical molecular genetics at the Children’s Hospital of Eastern Ontario.

He is Professor Emeritus in the Department of Medical Genetics, University of Alberta and the past Medical/Scientific Director of Genetic Laboratory Services for Alberta Health Services.

His research activities have focused on identifying the causes of genetic disorders. This has led to several discoveries of DNA changes associated with a wide range of conditions.

He has also been actively involved in improving standards for clinical genetic testing.

He was a member of the Canadian Federal/Provincial/Territorial Task Force on Genetics and Health, and represented Canada at the Organization for Economic Cooperation and Development in the establishment of international best practice guidelines for clinical molecular genetic testing.

He has served as an external reviewer for several initiatives, including the Ontario Predictive Cancer Genetics Program, Repatriation of Genetic testing in Ontario, and as an expert advisor to pharmaceutical advisory boards.

He has appeared before the Canadian Senate and the RCMP to provide expert opinion on the forensic use of DNA data.

He is a current member of the College of Physicians and Surgeons of British Columbia Diagnostic Accreditation Program, and a past member of the College of Physicians and Surgeons of Alberta Advisory Committee for Laboratory Medicine. He is also the past President of the Canadian College of Medical Geneticists.

Research Synopsis

My current research activities are distributed between three project areas:

Familial Enteropathy

I am completing genomic analysis of a familial pediatric gastrointestinal disorder which has been characterized in a large kindred of more than 100 individuals.

This potentially fatal enteropathy is attributed to an intragenic in-frame duplication, which results in a highly-penetrant dominant gain-of-function modification of the APOA4 protein.

Whole genome sequencing will clarify the role of APOA4 in conjunction with possible secondary phenotype modifiers. If the APOA4 variant is confirmed to be the nominal cause of this condition, evidence from animal models suggests that oral administration of functional APOA4 will completely attenuate life-threatening episodes of this disorder.

This will also add considerably to our understanding of the role of apolipoproteins in inflammatory disease.

Health impact of hereditary cardiac disease management

Approximately a quarter of sudden cardiac death in the young can be attributed to a diagnosis of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), or arrhythmogenic right ventricular cardiomyopathy (ARVC).

Exercise has been implicated as a trigger for sudden cardiac arrest for each of these conditions and as a result guidelines have been published regarding physical activity restrictions.

The published guidelines challenge the current recommendations by Health Canada which emphasize the importance of daily vigorous physical activity aimed at reducing the risk of obesity and related morbidity.

I am co-supervising a doctoral graduate research project that assesses the impact of exercise restrictions with regard to weight status, physical activity level and health related quality of life (HRQL) in these pediatric populations.

This work will determine whether exercise restrictions implemented to decrease the risk of sudden cardiac arrest for children/adolescents/young adults with LQTS, CPVT, HCM and ARVC, lead to increased body mass index, decreased physical activity levels, and decreased HRQL. It will also inform current practices that are highly variable in-light of guideline inconsistencies.

Implementation of high resolution low-cost diagnostics

I have had ongoing project work with collaborators at the Centres for Disease Control (CDC) in Zhejiang Province, China.

We have been developing targeted systems to allow for relatively low-cost molecular diagnostics to augment existing screening programs, and are currently in the process of validating a novel multiplex mass array assay to provide high-resolution diagnoses of Y chromosome infertility.

I am the principal investigator on this project, which was recently awarded a development grant from the Hangzhou Economic and Technological Development Zone Talent Technology Bureau.

The design of low-cost, high-utility assays, helps to broaden the repertoire of public health services provided by this provincial CDC with a catchment population of approximately 64 million people.

It also provides much needed expertise for their technical staff, as they work to enhance the role of molecular diagnostics in their operations.

Recent Publications

Christian S., M. Somerville, M. Giuffre, and J. Atallah. Physical activity restriction for children and adolescents diagnosed with an inherited arrhythmia or cardiomyopathy and its impact on body mass index. J Cardiovasc Electrophysiol. (2018) Aug 14. [Epub ahead of print]

Christian S., M. Somerville, S. Taylor, J. Atallah. When to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy: The Family Perspective. Circ Genom Precis Med. (2018)

Christian S., M. Somerville, S. Taylor, J. Atallah (2016) Exercise and β-blocker therapy recommendations for inherited arrhythmogenic conditions. Cardiol Young. 2016; 26(6):1123-9. 

Tang J.W., D. Adachi, H. Gunning, C. Marian-Dyer, S. Hume, S. Taylor, S. Haase, L. Vicen, M. Benedet, A. Chow, M. Somerville, M. Hicks (2014) Discrepant HIV results resolved by human DNA testing. J. Clin. Virol. 61(2): 311-312.

Percy M., M.J. Somerville, M. Hicks, T. Colellia, E. Wright, J. Kitaygorodskya, A. Jianga, V. Hoa, A. Parpiaa, M.K. Wong, A. Garcia (2014) Risk Factors for Development of Dementia in a Unique Six-Year Cohort Study. I. An Exploratory, Pilot Study of Involvement of the E4 Allele of Apolipoprotein E, Mutations of the Hemochromatosis-HFE Gene, Type 2 Diabetes, and Stroke. J. Alz. Dis. 38: 907–922

Lilley M., S. Christian, P. Blumenschein, S. Chan, M.J. Somerville (2013) A centralized approach to out-of-province genetic testing leads to cost savings: the Alberta experience. Clin Genet. 84(4): 373-377.


Head of the Division of Genome Diagnostics, Hospital for Sick Children, Toronto