When a primary care provider refers a patient to their local genetics centre, the consultation may involve a medical geneticist, a genetic counsellor or both, depending on the referral indication. In the hospital clinical setting, genetic counsellors work closely with medical geneticists and other non-genetic specialists, and may have medical directives to order, interpret and discuss genetic testing options and results.

Common indications for clinical genetics/ genetic counselling referrals:


  • A patient abnormal prenatal screening result (NIPT, FTS etc)
  • Fetal anomaly detected on ultrasound
  • Consanguinity (preconception consult is ideal)
  • Carriers of a recessive or X-linked condition (preconception consult is ideal)
  • A positive prenatal diagnosis
  • Previous child or pregnancy with a genetic anomaly or birth defect (preconception consult is ideal)
  • Teratogenic exposure
  • Advanced maternal age
  • A patient or partner who has a genetic diagnosis and is concerned about recurrence risk


  • Abnormal newborn screening result
  • Ambiguous genitalia
  • Multiple malformations +/- dysmorphic features
  • Neurodevelopmental delay associated with dysmorphic features, birth defects and/or autism. Note: Provision of baseline testing reports (chromosomal microarray, fragile X and metabolic screen) may be required at the time of referral.
  • Recognized or suspected genetic syndrome
  • Positive family history of childhood-onset disorders
  • Congenital hypotonia or complex neurological symptoms
  • Pediatric cancer diagnosis or risk


  • A personal or family history of a known genetic disorder
  • Cardiovascular disease associated with genetic factors (long QT, hyperlipidemia, etc.)
  • Progressive neurological condition, including unexplained neuropathy, progressive ataxia, early onset dementia Early onset hearing loss
  • Early onset visual loss including retinitis pigmentosa, macular degeneration, cataracts
  • Family history of sudden, unexplained death at a young age
  • Recognized chromosomal or other genetic disorder in the patient or family


  • Early-onset cancers
  • Rare cancers (e.g. male breast cancer)
  • A personal or family history of two or more primary cancers (in one person)
  • A positive family history of related cancers or early-onset cancers Polyposis
  • A personal or positive family history of a known genetic cancer predisposition gene variant
  • A concern about a cancer family history

Referral information for Ontario genetic services

Hamilton Health Sciences

Genetics & Metabolics Referral Form

Cancer Genetics Clinic

Prenatal Diagnosis Clinic

Kingston Health Sciences Centre

General Genetics Referral Form

Cancer and Prenatal Genetics Referral Forms Page

Kitchener: Grand River Regional Cancer Centre

Cancer Genetics Referral Form (*updated April 2022)

London: Medical Genetics Program of Southwestern Ontario

Prenatal Referral Form

Cancer Genetics Referral Form

Medical Genetics Referral Form

LHSC Pediatric Neurofibromatosis Clinic Referral Form

Mississauga: Trillium Health

Clinical Genetics Referral Form

Familial Cancer Genetics Referral Form

Cardiogenetics Program Referral Form

Prenatal Genetics Referral Guidelines

Orillia: North Simcoe Muskoka Regional Genetics Program

General Genetics Referral Form

Cancer Genetics Referral Form

Ottawa: Children’s Hospital of Eastern Ontario

Genetics Program Referral Form

Hereditary Cancer Referral Form

Peterborough Regional Health Centre

General and Prenatal Genetics Program Referral Form

Additional OBSP Form for Breast Cancer Genetics Referral Required

Sudbury Health Sciences North

Genetic Counselling Referral Form

Thunder Bay Regional Health Sciences Centre

Genetics Clinic Referral Information and Forms

Toronto: North York General Hospital

NYGH General Genetics Referral Form (Adult, Pediatric and Prenatal and Huntington Disease)

NYGH Familial Cancer Clinic Referral Form

Toronto: SickKids

Genetics Clinic Referral Information

Referral instructions (eCHN)

Toronto: Scarborough Health Network

Cancer Genetics Referral Form

Prenatal Genetic Counselling Clinic Information

Toronto: Sunnybrook Health Sciences Centre

Cancer Genetics & High Risk Program Referral Form

Toronto: University Health Network (Princess Margaret, TGH, TWH)

Bhalwani Familial Cancer Clinic referral form

Fred A. Litwin Family Centre in Genetic Medicine Adult Genetics Referral Form

Epilepsy Genetics Clinic

Mount Sinai Hospital Prenatal Diagnosis Clinic

Zane Cohen Hereditary GI Cancer Clinic Referral Info

Toronto: Women’s College Hospital

Genetics/Hereditary Breast Cancer Clinic

Cancer Genetic Counselling Form

Some helpful provincial resources for your practice