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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Genetic counselling

What is genetic counselling

Genetic counselling is the practice of assisting individuals and families to comprehend the natural history of genetic and congenital conditions, as well as the psychosocial and reproductive implications. This involves an assessment of the risk of recurrence or occurrence of the condition and discussions about inheritance patterns, available testing options including interpretation of test results, prevention, medical management and options for prenatal diagnosis. Genetic counselling also includes the provision of supportive counselling with a sensitivity to ethnic and cultural diversity and addresses potential ethical issues. The aim of this process is to help clients adapt to the psychosocial and familial issues that may arise as a result of the condition/family history of a condition.

Genetic counsellors are health care professionals with a specialized master of science in the areas of medical genetics and genetic counselling. They serve as patient advocates, educators and are involved in clinical research.

Genetic counsellor profiles

Cheryl Shuman, MS, CGC Director, Genetic Counselling

Cheryl Shuman has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children since 1981. Prior to joining SickKids she worked in the Genetics-Birth Defects Center at the Medical University of South Carolina. She received a master of science in genetic counselling from Sarah Lawrence College in 1979 and was certified in Genetic Counselling by the American Board of Medical Genetics in 1982. Cheryl was appointed Director, Genetic Counselling at SickKids in 1999. She is also the Program Director of the M.Sc Program in Genetic Counselling and Associate Professor in the Department of Medical Genetics and Microbiology at the University of Toronto. Cheryl holds a Project Director appointment in the Research Institute at SickKids based on her involvement in clinical research. She has a special interest in education, ethics, and clinical and molecular correlations in overgrowth syndromes.

Riyana Babul-Hirji, M.Sc, CGC Genetic Counsellor, Clinical Genetics

Riyana Babul-Hirji has been a genetic counselor in the Division of Clinical and Metabolic Genetics at SickKids since 1993.  She received a Master of Science in Genetic Counseling from McGill University in 1993 and was certified in Genetic Counseling by the American Board of Genetic Counseling in 1999.  Riyana is an Assistant Professor in the Department of Molecular Genetics at the University of Toronto as well as a clinical supervisor to students in the M.Sc Program in Genetic Counseling.  She holds a Project Investigator appointment in the Research Institute due to her own research interests (in the area of genetic counseling and clinical research) as well the supervision of graduate students' research projects.  Riyana is affiliated with numerous specialty clinics at SickKids and has a special interest in prenatal diagnosis, paediatric genetics, and disorders of sexual differentiation.  

Cheryl Cytrynbaum, MS, CGC Genetic Counsellor, Clinical Genetics

Cheryl Cytrynbaum has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children since 1992. Prior to joining SickKids she worked as a genetic counsellor at McMaster University Medical Centre in Hamilton. Cheryl received her master of science in medical genetics from the University of Wisconsin-Madison in 1990 and was certified in Genetic Counselling by the American Board of Medical Genetics in 1993. Cheryl is a Lecturer in the Department of Medical Genetics and Microbiology at the University of Toronto as well as a clinical supervisor to students in the M.Sc Program in Genetic Counselling. She holds a Project Director appointment in The Hospital for Sick Children Research Institute based on her involvement in clinical research and supervision of graduate students. Cheryl has a special interest in 22q11 Deletion Syndrome, overgrowth syndromes and bioethics.

Megan Day, M.Sc, CGC, CCGC Genetic Counsellor, Ocular Genetics

Megan Day has been a genetic counsellor in the Department of Ophthalmology and Vision Sciences at The Hospital for Sick Children since May 2008. Prior to joining SickKids, she worked in the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital in Toronto for one year. Megan received her undergraduate degree from McMaster University and her Master of Science in Genetic Counseling from Arcadia University in Philadelphia. Megan was certified in Genetic Counselling by the Canadian Association of Genetic Counsellors and the American Board of Genetic Counseling in 2009. In her current position at The Hospital for Sick Children, Megan provides genetic counselling to paediatric and adult patients with genetic eye conditions such as retinitis pigmentosa, retinoblastoma, albinism, and other disorders in which vision is the primary concern. She is also actively involved as a lecturer and clinical supervisor in the University of Toronto M.Sc. Program in Genetic Counselling.

Harriet Druker, M.Sc Genetic Counsellor, Cancer Genetics

Harriet Druker has been a genetic counsellor in the Cancer Genetics Program in the Division of Haematology /Oncology at SickKids since 2000. Prior to joining the Cancer Genetics Program, she worked in prenatal diagnosis and clinical and metabolic genetics.  She received her Mast of Science degree in Genetic Counseling from McGill University in 1996.  Harriet is a Lecturer in the Department of Molecular Genetics at the University of Toronto and has served as a clinical supervisor to more than 100 students in the M.Sc Program in Genetic Counseling and to genetic residents and fellows.  

As a genetic counselor, Harriet provides comprehensive cancer genetic consultations to individuals and families with a history of cancer.  She develops extensive pedigrees and obtains documentation for cancer diagnoses.  Genetic counseling regarding personal risk for developing cancer and the availability of screening is offered to each member of a family at risk.  Where predictive testing is appropriate, education is offered about the genetics of cancer, prenatal diagnosis, the testing process, and the implications of test results.  Families are provided with ongoing support throughout this process.  

Lucie Dupuis, M.Sc, MS, CGC Genetic Counsellor, Clinical Genetics

Lucie Dupuis has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children (SickKids) since 1998. She joined SickKids after receiving her master of science in genetic counselling from Brandeis University in 1998. In addition, she received a master of science in biology/human genetics from McGill University in 1996. She has a special interest in paediatric genetics and skeletal dysplasia. She was certified in Genetic Counselling by the American Board of Genetic Counseling in 1999. Lucie is also actively involved as a lecturer and clinical supervisor in the University of Toronto M.Sc Program in Genetic Counselling.

Stacy Hewson, M.Sc, MS, CCGC, CGC Genetic Counsellor, Metabolic Genetics

Stacy Hewson has been a genetic counsellor in the Division of Clinical and Metabolic Genetics since August 2000. Prior to joining the Division, she worked in the Medical Genetics program at The Women's and Children's Hospital of British Columbia for two years. She received her master of science in genetic counselling from McGill University in 1998. She has a special interest in metabolic diseases. She was certified in Genetic Counselling by the American Board of Genetic Counseling in 1999. She is actively involved in the University of Toronto M.Sc Program in Genetic Counselling in both a clinical supervisory and lecturer capacity.

Regan Klatt, MS, CCGC Genetic Counsellor, Clinical Genetics

Regan Klatt has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children since 2002. She joined SickKids after receiving her Master of Science in Medical Genetics (Genetic Counseling) from the University of Cincinnati in 2002. She spent her first year at SickKids coordinating clinical research projects relating to Fabry disease and then several years working with the cleft lip and palate and craniofacial syndrome populations. Since 2003, she has been a clinical genetic counsellor with a special interest in research ethics and hereditary hemorrhagic telangiectasia (HHT). She was certified in Genetic Counselling by the Canadian Association of Genetic Counsellors in 2004 and by the American Board of Genetic Counseling in 2005. She acts as both a lecturer and a clinical supervisor as part of the University of Toronto M.Sc Program in Genetic Counselling.  She is also an active member of the Research Ethics Board (REB) at The Hospital for Sick Children.

Nicole Parkinson, M.Sc, MS, CGC Genetic Counsellor, Paediatric Laboratory Medicine (DPLM)

Nicole Parkinson has been a genetic counsellor in the Division of Clinical and Metabolic Genetics and the Division of Paediatric Laboratory Medicine at The Hospital for Sick Children since 2007. She joined Sick Kids after receiving her Master of Science in Genetic Counseling from The University of Toronto in 2007. In addition, she received a Master of Science in Human Genetics from McGill University in 2005. She successfully wrote her American Board of Genetic Counseling certification exam in September 2009.  She is actively involved in the University of Toronto M.Sc Program in Genetic Counselling in both a clinical supervisory and lecturer capacity. Nicole has a special interest in paediatric genetics, Turner syndrome and other sex chromosome differences.

Nada Quercia, M.Sc, CCGC, CGC Genetic Counsellor, Clinical Genetics

Nada Quercia has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children (SickKids) since 1998. She joined SickKids after receiving her Master of Science in Genetic Counselling from McGill University in 1998. Nada was certified in Genetic Counselling by the Canadian Association of Genetic Counsellors in 1998 and by the American Board of Genetic Counseling in 1999. Over the years she has provided genetic counselling to families seen in various genetic specialty clinics including the skeletal dysplasias, connective tissue disorders, sex chromosome differences, and neurogenetics.  Currently her main area of focus is in providing genetic counselling for patients with cardiomyopathy, craniofacial differences, and cleft lip and palate.   Nada is also a lecturer and clinical supervisor in the University of Toronto M.Sc. Program in Genetic Counselling and is actively involved in teaching and training genetic counselling students, medical students, residents and fellows.

Andrea Shugar, MS, CGC, CCGC Genetic Counsellor, Clinical Genetics

Andrea Shugar is a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children and has been in practice since 1992. She received her undergraduate degree from the University of Toronto and her master of science in genetic counselling and biological sciences from the University of Cincinnati. Andrea is past president of the Canadian Association of Genetic Counsellors, and was on the first Certification Board for Canadian Genetic Counsellors. In her current position at The Hospital for Sick Children, Andrea teaches and supervises graduate-level genetic counselling students, provides genetic counselling to paediatric patients and their families, and is involved in establishing a new multidisciplinary clinic for 22q-11 deletion syndrome (velocardiofacial syndrome). Andrea has a special interest in research ethics and issues surrounding predictive testing for adult-onset disorders, and the multi-disciplinary care model.

Joanne Sutherland, MS, Genetic Counsellor, Ocular Genetics

Joanne Sutherland has been a genetic counsellor (GC) at The Hospital for Sick Children (SickKids) since 1988. From May 1988 to October 1994, she was the GC in the Molecular Diagnostic Lab in the Division of Clinical and Metabolic Genetics. From October 1994 to the present, Joanne has specialized in counselling families affected by one of the genetic eye disorders. She practices within the Ophthalmology Department at SickKids. Prior to joining SickKids, she worked as a general genetic counsellor with the Genetic Services at the Children's Hospital of Western Ontario in London, Ontario. She received her master of science in medical genetics from Sarah Lawrence College in 1984. Joanne is actively involved in the M.Sc Program in Genetic Counselling as both a lecturer and a clinical supervisor. Joanne counsels patients of all ages affected by retinitis pigmentosa, retinoblastoma, albinism, paediatric cataracts, pediatric glaucoma and other disorders in which the eye is the primary problem for the patient and their family.

Karen Tam, M.Sc, CGC - Genetic Counsellor, Newborn Screening

Karen Tam has been a genetic counsellor in the Division of Clinical and Metabolic Genetics since 2006. Prior to joining the Division, she worked in the Adult Genetics Program at the University Health Network (Toronto General Hospital). She received her Master of Science degree from Johns Hopkins University in 2004, and was certified in genetic counselling by the American Board of Genetic Counseling in 2007. She spent her first year at SickKids as a genetic counsellor in metabolic genetics, and subsequently transitioned into her current position where she specializes in the area of newborn screening. She is actively involved in the University of Toronto M.Sc Program in Genetic Counselling as a lecturer and clinical supervisor. Karen has a special interest in psychosocial and ethical issues in newborn screening and inter-professional models of health care.

Eriskay Liston, MS, CGC Genetic Counsellor, Clinical Genetics

Christopher Trevors has been a genetic counsellor in the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children since 2004. He joined SickKids after working at Westchester Medical Center in Hawthorne, New York for one year. He received his Masters of Science in Human Genetics (Genetic Counseling) from Sarah Lawrence College, Bronxville, NY in 2003. He spent his first two years at SickKids in clinical care with a focus on neurofibromatosis, hearing loss, skeletal dysplasias, and connective tissue disorders. Since 2006 he has been the Coordinator of the DNA Resource Centre at SickKids. He has a special interest in the implementation of new genetic technologies and the ethical, legal and social implications surrounding the provision of medical genetic care and genetic technologies. He was certified in Genetic Counselling by the American Board of Genetic Counseling in September 2005. He also acts as a lecturer and a clinical supervisor as part of the University of Toronto M.Sc. Program in Genetic Counselling.

Laura Zahavich, M.Sc, CGC, Genetic Counsellor, Clinical Genetics, Cancer Genetics, Neurology

Laura Zahavich has been a genetic counselor in the Divisions of Clinical and Metabolic Genetics and Hematology/Oncology at the Hospital for Sick Children since 2009.  She also works as a research genetic counselor in Neurology as part of the Canadian Pediatric Demyelinating Disease Study.  She received her Master of Science degree from the University of Toronto in 2009, and was certified in genetic counselling by the American Board of Genetic Counseling in 2010.  Laura has a special interest in cleft lip and palate and other craniofacial conditions, pediatric oncology as well as the genetics of complex disorders, particularly pediatric multiple sclerosis.  She also has a focus on cross-cultural counselling and serves as an Inter-professional Educator for the New Immigrant Support Network.  Laura is also involved as a clinical supervisor in the University of Toronto M.Sc Program in Genetic Counselling

Links of interest

American Board of Genetic Counselling

Canadian Association of Genetic Counsellors

National Society of Genetic Counselors

University of Toronto M.Sc Genetic Counselling Program