Department of Pediatrics

Faculty of Medicine

Medical Genetics

Facing genetics head-on

In the Division of Medical Genetics, we provide clinical care to Maritime patients and families. These patients are either dealing with genetic disorders, inherited metabolic diseases and congenital anomalies, or they’re at risk for developing these problems. We help by offering diagnoses, treatment and genetic counselling. Education and research are also important parts of what we do.

Clinical activities

Through the IWK’s Maritime Medical Genetics Service (MMGS), our faculty members provide families with a full range of services, including diagnoses, treatment, education and counselling. Working alongside 15 genetic counsellors, three metabolic nurses, a dietician and administrative support, our faculty members staff the following clinics:

  • Pediatric Genetics
  • Prenatal Diagnosis
  • Cancer Genetics
  • Pediatric Cancer Genetics
  • General Genetics
  • Genetic Counselling
  • Huntington Disease
  • Metabolic
  • Fabry Disease
  • PKU
  • Familial Cardiac Disease
  • Velocardiofacial Syndrome/Velopharyngeal Insufficiency
  • Connective Tissue

Our members also provide inpatient consultations to all Halifax area health care centres. Through the IWK Health Centre, we provide 24-hour emergency coverage for issues involving metabolic disease, dysmorphic newborns and prenatal diagnosis. We also offer follow-up care for infants identified by the Newborn Screening Service.

Outreach clinics are held in Summerside, Charlottetown, Fredericton and Saint John. We also use Telehealth to counsel patients from across the Maritimes so that they don’t have to travel to Halifax.

Teaching activities

Undergraduate education: Our members play an active role in teaching at all levels. Our division faculty members are responsible for a large proportion of the genetics component of the Human Development course for first-year medical students. They also teach mandatory and elective rotations in genetics to residents and fellows from various clinical departments. Their contribution to teaching can mean getting involved with:

  • lectures
  • tutorials
  • clinical and problem solving sessions
  • exam preparation and grading
  • course organization
  • as resource persons

We also conduct clerkship tutorial sessions in genetics for Med 3 students during each pediatric rotation. Fourth-year students may elect a rotation in genetics as part of the Continuing and Preventative Care unit, and all students have access to genetics electives.

Residency training: We’re also involved in postgraduate medical education. Many residents and fellows have rotations in genetics including:

  • pediatric residents
  • neonatal perinatal residents
  • obstetrics and gynaecology residents
  • maternal-fetal medicine fellows
  • gynaecologic reproductive endocrinology and infertility fellows
  • dermatology fellows

Throughout the year, our members teach pediatric residents during the weekly academic half-days.

Continuing medical education: Our members are involved in Continuing Professional Development in a variety of settings.

Education outside the faculty: We’re also involved in education outside of Dalhousie Medical School. These activities include:

  • a fourth-year undergraduate Human Genetics course
  • working with genetic counselling students
  • ongoing in-service education of the genetic counsellors and nurses on the staff of the MMGS (as well as other IWK staff, such as the transport team)

Research interests

Our research activities include studies of:

  • the delineation of the phenotype
  • the natural history of genetic disorders
  • the molecular basis and population molecular genetics of genetic disorders in the Maritime provinces

Many of these studies are a collaborative effort between our researchers and members of health care institutions throughout North America, and other Dalhousie departments, including:

  • ophthalmology
  • psychiatry
  • medicine (especially cardiology, nephrology and medical oncology)
  • obstetrics and gynaecology
  • psychology
  • pathology

The Atlantic Medical Genetics and Genomics Initiative

One of our major research activities is the Atlantic Medical Genetics and Genomics Initiative (AMGGI), a research program that uses the unique population structure and healthcare system of the four Atlantic provinces to provide a streamlined genetic discovery process.

Funded through awards from Capital Health, the IWK Health Centre, Dalhousie University and Genome Canada, as well as sister institutions in Newfoundland and Labrador, AMGGI is a $9.5 million initiative that draws together a multidisciplinary team of experts in:

  • clinical ascertainment
  • gene discovery
  • genetic diagnostics
  • genetic counselling
  • health economics
  • human ethics

The research team—which is comprised of researchers from Dalhousie and Memorial University—is identifying genes and genetic mutations that cause single gene disorders within the population of Atlantic Canada. They’re also working closely with health care providers to determine the medical, ethical, environmental, economic, legal and social impacts of this genetic information on human health.

Other research interests

Our research efforts also include several industry-supported studies of lysosomal storage disease with a specific focus on Fabry disease. These studies look at natural history, registry and phenotype delineation studies, and clinical trials of enzyme replacement therapy.

Other research interests include:

  • studies of X-linked diseases and X-inactivation
  • newborn screening for metabolic disease
  • genetic studies in the cardiomyopathies
  • ongoing collaborative projects on hereditary cancers
  • research into alternate modes of delivery of genetic services
  • Familial Wilms Tumor
  • 22q Deletion Syndrome
  • VLCADD
  • Neonatal Progeria
  • Care for Rare - Study of Rare Diseases

Medical geneticists

  • Kellie Davis, MD, FRCPC, FCCMG, Assistant Professor
  • Sarah Dyack, MD, FRCPC, FCCMG, Associate Professor
  • Sharan Goobie, MD, Msc, FRCPC, FCCMG, Associate Professor
  • Sandhya Parkash, MD, FRCPC, FCCMG, Assistant Professor
  • Lynette Penney, MD, FRCPC, FCCMG, Associate Professor (Division Head)
  • David Skidmore, MD, FRCPC, FCCMG, Assistant Professor

Contact info

Maritime Medical Genetics Service- Inquiries regarding referrals, genetic testing and appointments please phone: 902-470-8754 or Fax 902-470-8709

Dalhousie- For academic inquiries regarding research, education, residency training or scheduling please phone: 902-470-8641

Address:
Division of Medical Genetics

Department of Pediatrics

Faculty of Medicine, Dalhousie University

IWK Health Centre

5850/5980 University Avenue

PO Box 9700

Halifax NS  B3K 6R8