Anyone who may be concerned about “a disease running in their family” have the potential to benefit from a genetic consultation.
The Human Genetics Unit has categorized clinics according to varying sub specializations of clinical genetics and has specific days of the week catering to these patient groups:
|DAY & TIME||CLINIC|
|Monday 9 am-12 noon||Dysmorphology and Reproductive Genetics Clinic|
|Tuesday 9 am-12 noon||Neurogenetics Clinic|
|Wednesday 9 am-12 noon||Cancer Genetics Clinic|
|Thursday 9 am-12 noon||Ophthalmogenetics Clinic|
|Friday 9 am-12 noon||Haematology and Haemato-oncology Clinic|
WHY ARE PEOPLE REFERRED FOR GENETIC CONSULTATIONS?
- Family member(s) with a genetic condition.
- Infertility or sterility problems
- A woman and/or her partner who carries a gene coding for a genetic disorder or a chromosome rearrangement/abnormality
- Exposure to potential teratogenic or mutagenic agents
- Maternal disease
- Consanguineous marriage
- Two or more miscarriages or pregnancy losses
- A previous stillborn child
- A previous child with a genetic disorder or birth defect
- Abnormal growth patterns
- Ambiguous or abnormal genitalia; early onset of puberty
- Any congenital anomaly/dysmorphic features
- Psychomotor delay or mental retardation
- Abnormal body and limb proportions, asymmetry between right and left or between paired structures
- Metabolic disorders
- Muscular weakness
- Bleeding tendency
- Blindness or deafness
- Abnormal sexual development.
- A diagnosis of an adult onset genetic disease (e.g., neurological disorders)
- Family history of inherited disorders (e.g., colon cancer, breast/ovarian cancer, familial hypercholesterolemia, MODY, psychiatric or behavioral disorders)
- Construct a family history or pedigree with entry of all medical problems
- Analyze the family history for genetic and/or birth defect risk
- Assess and interpret the risk for occurrence (or recurrence) of genetic conditions in the family
- Discuss the nature of the condition (s), including the contribution of heredity
- Discuss the options available to reduce recurrence risk(s), including testing available
- Convey risks and benefits of each option available with careful attention to patient comprehension
- Assist in selecting the option appropriate for an individual or family
- Provide supportive counseling and/or referral to community resources when appropriate.
- Coordinate tests performed, when indicated
- Write a summary letter documenting the counselling session, outlining the plan of care, and send it to the patient and/or referring physician
- Coordinate any treatment plan if necessary with other medical specialists
- What is the condition?
- How sure are you?
- Is there any test to confirm it?
- How does an individual get this condition?
- What are the characteristics of this condition?
- What is the life expectancy of someone with this condition?
- Is there a cure for this condition?
- What is the treatment and follow-up for this condition?
- When might it be appropriate to see you again?
- What specialists will I need to see?
- How do you care for a person with this condition?
- How is this condition passed from one generation to the next?
- What should I consider before having anymore children? Is there a prenatal test for this condition and are there any special pregnancy precautions?
- Can a person not have this condition and still pass it on to his or her children?
- Will my other children / siblings be affected?
- How will this diagnosis affect my health insurance?
- What are the medical costs likely to be?
- Is there any financial assistance for those who have this condition?
- Where can I get additional information about this condition?
- Which organizations or support groups might be helpful?
- that you find out as much as possible about your own illness.
- that you find out as much as possible about illnesses in other members of your immediate and extended family including grandparents, aunts, uncles and their children.
- to bring all relevant medical records not only of yourself but also of relavent relatives including previous x-rays, photos of diseased people or photos of a person before he/she developed the illness (if relevant only), etc.