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. Test Tony Brinkman
Faculty appreciate dinner (tony’s version)
What is Genetic Counselling?
Genetic counselling deals with 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, probably 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 such conditions are not detectable. Prenatal diagnosis is available to pregnant women who re 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, e.g., mental retardation, deafness,
blindness, cancer, early heart attacks, or schizophrenia.
•Couples who are close blood
relatives, e.g., first cousins.
Prenatal Diagnosis
Whenever possible, families should be referred to Medical Genetics before initiating a pregnancy. Pregnant women 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, etc.
• 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, CANADA
V6H 3N1
Tel: 604-875-2157
Fax: 604-875-2376
