What is Genetic Counseling?
Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the geneticcontribution to specific health conditions.
We further define genetic counselling as the process by which patients and relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the ways in which this may be prevented, avoided or ameliorated.
Integral to this process are the clients’ and families’ emotional and psychological responses as well as social issues. These need to be acknowledged, addressed and supported for effective genetic counselling.
The information needs to be presented in a meaningful and non-judgemental way and be pertinent to the needs of the clients. Genetic counselling aims to guide clients to make use of the information that is provided and may involve discussing various options, beliefs and values. A key role of the genetic counsellor is to facilitate decision making by clients as they consider the risk and burden of the disorder, the range of options available to them, in light of their beliefs and values.
The diagnosis and information discussed in genetic counselling often has implications for blood relatives. This can impact on relationships, family dynamics and obligations felt towards other family members. Individuals may need to balance their feelings of obligation to pass on information to other family members against their concern about loss of personal privacy.
This process involves multiple steps including pre-clinic contact with clients, the clinical consultation and follow-up with clients as well as record keeping and often literature and database searches. To ensure the effectiveness of genetic counselling a multi-disciplinary team of professionals is involved. These include the clinical geneticist, genetic counsellor, social worker or other allied health worker as appropriate and administrative staff.
Genetic Counseling plays an important role
Couples referred to the Prenatal Diagnosis Center may receive genetic counseling. Genetic counselors are trained in clinical genetics and counseling and they have a Masters Degree in Genetic Counseling and extensive experience in providing information regarding various genetic disorders. They are also trained in assisting with the care of individuals carrying a pregnancy affected by a birth defect as well as those at risk of a having a pregnancy with a birth defect or genetic disorder.
Prior to their scheduled ultrasound procedure, they meet with couples who are at increased risk for fetal chromosomal and structural abnormalities to further explain and clarify those risks. They take a detailed family and medical history and discuss the ultrasound examination and other possible tests. They will also discuss abnormal results and options available to the families.
Who should consider prenatal testing and genetic counseling?
- You are pregnant and will be 35 years of age or older on your due date.
- You are pregnant with an abnormal expanded AFP blood test. (Quad Test)
- You have had an ultrasound of your fetus showing a possible birth defect.
- You have already had a child or close relative with a birth defect or genetic disease.
- You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis or thalassemia.
- You are a carrier of an X linked disease such as Fragile X, hemophilia or muscular dystrophy.
- You and your partner are closely related to each other (such as first cousins).
- You have been exposed to medications, X-rays or other agents during your pregnancy that may be harmful to the developing fetus.