Clinical Genetics

Genetics as a Medical Specialty

Clinical genetic services include the assessment and diagnosis of birth defects and genetic diseases, and the provision of genetic counselling. Specialized genetic services are delivered by a team consisting of genetic physicians from U.B.C. Department of Medical Genetics, genetic counsellors, and support staff. Primary physicians refer families for medical genetics evaluation and consultation, and not for ongoing care or treatment.

What is Genetic Counselling?

Genetic counselling focuses on the human and medical problems associated with the occurrence or risk of recurrence of a congenital anomaly or genetic disease in a family. This involves discussion of the complications, probable course and treatment of the condition, the recurrence of similar problems in future pregnancies and of options available to avoid recurrence.

The individual or family is counselled to choose the most appropriate course of action in view of their risk, their interpretation of the burden of the condition and their own ethical and cultural orientation. Some birth defects and genetic diseases can be diagnosed in a fetus prior to birth but most conditions are not detectable. Prenatal diagnosis is available to pregnant people who are at an increased risk of having a baby with a serious abnormality that can be identified in the fetus.

Who should be referred?

Families are referred for Medical Genetics consultation by their family physician or by another medical specialist. Reasons for referral include the following:

  • Families in which one or more members have a serious birth defect or genetic disease.
  • Families who have a child with multiple congenital anomalies, serious developmental delay or an
  • unexplained abnormality of growth.
  • Families in which more than one close relative has the same disease such as intellectual disability, deafness, blindness, cancer, early heart attacks or schizophrenia.
  • Couples who are close blood relatives such as first cousins.

Prenatal Diagnosis

Whenever possible, families should be referred to Medical Genetics before initiating a pregnancy. Pregnant people may also be referred for assessment, counselling and/or prenatal diagnosis in circumstances such as the following:

  • Women who have had a child with a prenatally detectable condition such as Down syndrome, anencephaly, open spina bifida, hydrocephalus, congenital absence of a limb, omphalocele, certain major cardiac malformations.
  • Women who are carrying a pregnancy in which the fetus has been found to have a malformation or genetic disorder.
  • Women with questions regarding the effects of exposure to medicines, drugs, alcohol or occupational chemicals during pregnancy.
  • Couples in which both parents are known to carry the gene for a detectable genetic disease such as thalassemia, cystic fibrosis or certain biochemical defects.
  • Couples in which one partner is affected with or carries a serious genetic condition such as muscular dystrophy, Huntington Chorea, hemophilia or a chromosomal abnormality.

It is important that referral for prenatal diagnosis be made early in a pregnancy so that appropriate arrangements for testing can be made.

Women who are 40 years of age or older at the expected date of delivery are at an increased risk of having a child with a chromosomal abnormality, such as Down’s Syndrome. Such women may be referred for prenatal testing to the Centre for Prenatal Diagnosis and Treatment at BC Women’s Hospital (Tel: 604-875-2814). These referrals can be made directly by the family physician or obstetrician.

Where Can Medical Genetics Services be Obtained?

The Provincial Medical Genetics Program is located at the same site as B.C. Children’s Hospital and B.C. Women’s Hospital & Health Centre in Vancouver. We answer telephone inquiries regarding the appropriateness of referrals from physicians and other health professionals. In addition, the Provincial Medical Genetics Program provides educational materials and speakers to interested individuals and groups. Please call us at 604-875-2157 if you have a question about Medical Genetics services.

Other locations/contact:

Regional Medical Genetics Clinics are held periodically at various sites. On Vancouver Island, the Medical Genetics Clinic is located in Victoria. Please call 250-727-4461.

For more information or referral, please contact:

Provincial Medical Genetics Program
UBC Department of Medical Genetics
Children’s & Women’s Health Centre of B.C.
4500 Oak Street, Rm C234
Vancouver, BC V6H 3N1
Tel: 604-875-2157
Fax: 604-875-2376