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 Patient
and Family Information
What is the Genetics Clinic?
The Genetics Clinic offers prenatal and medical genetics services in
the areas of: assessment, diagnosis, and counseling to individuals of
all ages and their families.
The clinic provides risk information,
education and support for those with family history of genetic disease
and those at risk of developing genetic disease. Those who exhibit
symptoms that may indicate genetic disease are assessed and testing is
offered where appropriate. Referrals are required for this service.
The genetics clinic is part of a
multidisciplinary team that utilizes resources from various
disciplines such as diagnostic imaging, neurology and hematology,
obstetrics and paediatrics and oncology. Follow-up and referral
services are part of our total patient care philosophy.
Genetics is the study of genes and chromosomes. Genes are the genetic material that determines how we grow and function. Traits such as blood type, hair and eye colour for example are determined by our genes.
All individuals receive half of their genes from their father and half from their mother. If either parent or both parents have a change in a gene, it may be passed on to their children.
Some genetic problems are identified at birth. Others may appear later in childhood or even as an adult.
Various factors can cause birth defects, including certain drugs or alcohol, nicotine, some infections and some medications.
What is Genetic Counseling?
A genetic counseling appointment is made with a Clinical Geneticist (physician) or a Genetic Counselor. Counseling is recommended for people who want more information about the chances of having a genetic disease or the chance of passing one on to their child.
Counseling provides risk information, education and support for those with disease. Those who exhibit symptoms that may indicate genetic disease are assessed and testing is offered where appropriate.
Reasons for Referral
Various reasons for referral to a genetics clinic are outlined below.
Each referral would involve counseling and/or testing where available,
appropriate and desired by the individuals referred. In some
situations the appointment is more of an information session and
testing may not be recommended or desired. Any testing is with the
consent of the individuals referred or their guardian.
Diagnostic Testing
Diagnostic testing is used to confirm or rule out a known or suspected
genetic disorder in a symptomatic individual. For example; infants and
children with developmental delay, dysmorphic features or congenital
anomalies may be referred for investigation. Adults or children with
neurological, muscular or metabolic conditions could be referred to
confirm a clinical diagnosis or to attempt to find a diagnosis.
Predictive Testing
Predictive testing is offered to asymptomatic individuals with a
family history of a genetic disorder. Predictive testing is of two
types: presymptomatic (eventual development of symptoms is certain
when the gene mutation is present e.g. Huntington’s disease) and
predispositional (eventual development of symptoms is likely but not
certain when the gene mutation is present, e.g. breast cancer).
Prenatal Testing
Prenatal testing is performed during a pregnancy to assess the health
status of a fetus. Prenatal diagnostic tests are offered when there is
an increased risk of having a child with a genetic condition due to
maternal age, family history, ethnicity, or suggestive multiple marker
screening results such as Second Trimester Screening, Integrated
Prenatal Screening (IPS) or fetal ultrasound examination. Routine
prenatal diagnostic procedures are amniocentesis and chorionic villus
sampling (CVS).
Carrier Testing
Carrier testing is performed to identify individuals who have a gene
mutation for a disorder inherited in an autosomal recessive or
X-linked recessive manner. Carriers usually do not themselves have
symptoms related to the gene mutation. Carrier testing is offered to
individuals who have family members with a genetic condition, family
members of an identified carrier, and individuals in ethnic or racial
groups known to have a higher carrier rate for a particular condition.
Some examples would be Sickle cell anemia, thalassemia, cystic
fibrosis and Tay Sachs.
Preconception Counselling
Counselling is available for all of the above reasons for couples who
are planning a pregnancy and would like to discuss potential risks and
testing options before they conceive. In some situations there is a
history of recurrent miscarriages (three or more) or fertility
concerns that could be investigated from a genetic perspective.
More Information about Genetics
For more detailed explanation of specific genetic tests including
details of current prenatal screening testing options and general
genetics see:
Fetal Medicine International at:
www.mfmedicine.com.
Making a Referral
An appointment in the genetics clinic requires a physician referral (online form available here) (printer friendly form to fax). However if an individual feels a referral
is appropriate the clinic staff can assist in processing the referral.
Contact us
The Genetics Clinic at York Central Hospital can be reached by telephone at (905) 883-1212 ext. 7579, by fax at (905) 883-2052 or by e-mail at:
genetics@yorkcentral.on.ca.
We are located on the 5th floor in the
Douglas Storms Wing of York Central Hospital. To reach our clinic,
take the elevators (elevator bank with only two elevators) in the
Douglas Storms Wing from the main floor (level #2) up to the fifth
floor. The main office and reception is room # 5903.
Clinic Hours:
Monday through Friday 8:30 a.m. to 4:30 p.m.
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