Anyone who may be concerned about â��a disease running in their familyâ�� have the potential to benefit from a genetic consultation.
Genetic consultations at the Human Genetics Unit can be arranged by appointment.
Tele-Genetic consultations can also be arranged through the Nanasala Network without having to come to Colombo. Please contact the Nanasala
in your area to shedule an appointment.
Patients are usually seen on Tuesday and Friday Mornings. A speical clinic is conducted for patients referred for genetic thrombophilia screening
by Dr. Hemali Goonasekara, Consultant Haematologist, on Wednesdays.
WHY ARE PEOPLE REFERRED FOR GENETIC CONSULTATIONS?
Some reasons for genetic referrals are given below:
2.Family member(s) with a genetic condition.
1.Infertility or sterility problems.
2. A woman and/or her partner who carries a gene coding for a genetic disorder or a chromosome rearrangement/abnormality.
3.Exposure to potential teratogenic or mutagenic agents.
5.Two or more miscarriages or pregnancy losses.
6.A previous stillborn child.
7.A previous child with a genetic disorder or birth defect.
1.Abnormal growth patterns.
2.Ambiguous or abnormal genitalia; early onset of puberty
3.Any congenital anomaly/dysmorphic features.
4.Psychomotor delay or mental retardation.
5.Abnormal body and limb proportions, asymmetry between right and left or between paired structures.
9.Blindness or deafness.
1.Abnormal sexual development.
2.A diagnosis of an adult onset genetic disease (e.g., neurological disorders)
3.Family history of inherited disorders
(e.g., colon cancer, breast/ovarian cancer, familial hypercholesterolemia, MODY, psychiatric or behavioral disorders)
WHAT HAPPENS AT A GENETIC CONSULTATION?
This is what we do
1. Construct a family history or pedigree with entry of all medical problems.
2. Analyze the family history for genetic and/or birth defect risk.
3. Assess and interpret the risk for occurrence (or recurrence) of genetic conditions in the family.
4. Discuss the nature of the condition (s), including the contribution of heredity.
5. Discuss the options available to reduce recurrence risk(s), including testing available.
6. Convey risks and benefits of each option available with careful attention to patient comprehension .
7. Assist in selecting the option appropriate for an individual or family.
8. Provide supportive counseling and/or referral to community resources when appropriate.
9. Coordinate tests performed, when indicated.
10. Write a summary letter documenting the counseling session, outlining the plan of care, and send it to the patient
and/or referring physician.
11.Coordinate any treatment plan if necessary with other medical specialists.
You may want to ask us
1.What is the condition?
2.How sure are you?
3.Is there any test to confirm it?
4.How does an individual get this condition?
5.What are the characteristics of this condition?
6.What is the life expectancy of someone with this condition?
7.Is there a cure for this condition?
8.What is the treatment and follow-up for this condition?
9.When might it be appropriate to see you again?
10.What specialists will I need to see?
11.How do you care for a person with this condition?
12.How is this condition passed from one generation to the next?
13.What should I consider before having anymore children? Is there a prenatal test for this condition and are there any special pregnancy precautions?
14.Can a person not have this condition and still pass it on to his or her children?
15.Will my other children / siblings be affected?
16.How will this diagnosis affect my health insurance?
17.What are the medical costs likely to be?
18.Is there any financial assistance for those who have this condition?
19.Where can I get additional information about this condition?
20.Which organizations or support groups might be helpful?
HOW SHOULD YOU PREPARE FOR YOUR GENETIC CONSULTATION?
You have been referred for a Genetic Consultation. Usually doctors refer a person for a Genetic Consultation because there is concern about a genetic cause for his/her illness or the illness affecting his/her child or family member that may or may not be â��runningâ�� in the family. Because of that at Genetic Consultations information is gathered about you as well as your family members. So when you come for a Genetic Consultation it is necessary:
1.that you find out as much as possible about your own illness.
2.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.
3.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.