Importance of Genetic Counselling

Genetic Screening

Genetic Screening is a process where an individual/ group of individual’s genes are checked to predict or spot any medical condition that has got genetic roots. Screening type of genetic test is usually done on asymptomatic individual to predict individual’s genetic risk for any disease or any specific genetic trait. If screening shows any complications then further diagnostic test can be done to confirm the genetic disorder. Genetic screening reports are simple and easy to understand but difficult to interpret or conclude, for this specialized trained professionals - Genetic Counselor comes on board.

What is Genetic Counselling and how does it work?

Genetic counselling is a type of consultation where genetic counselor communicates with patient or family members to understand clinical genetic aspects of a medical condition. Genetic counselors certified and specially trained in arena like clinical genetic complications of disease; pedigree assessment; interpretation of genetic results; discuss specific testing or therapy options; to handle psychological issues related to disease; and bridge liaison between healthcare professional (doctor) and patient. Genetic counselling session is carried out in personal or via telephone or video counselling and with or without family insulating privacy of patient. Genetic counselling session can be divided into two major parts: Pre-test counselling and Post -test counselling.

Pre-test counselling - where counselors explains about the type of genetic test, sample collection, turnaround time for reports, follow up testing and answer questions of patient.

Post-test counselling - where counselor discuss about genetic report, advise further lab analysis or medical consultation, screening for family members if needed, social and economic facet of therapy, psychological support for patient and family members.

Who requires genetic counselling?

Genetic counselling is required when

• You or family member is suffering from hereditary genetic disease - Thalassemia, Sickle Cell anemia, Diabetes, Cardiovascular disease, Alzheimer’s, Parkinson’s or cancer.
• If you want to learn about the genetic health of all family members with genetic screening test.
• Understanding genetic reports and further possible therapy outcome.

Sometimes doctors also refer patient for genetic counselling to get better understanding about disease prognosis and pedigree analysis to trace the genes running in family. Couple counselling is done in case of infertility where couples are having trouble getting pregnant, looking for hereditary disease risk before planning a baby; and couples having chromosomal incompatibility to sustain viable fetus.

Genetic counselling is important in all the stages because it traverses communication with patient and doctor where only medical consultation fails to help the patient to understand ground reality for cause of genetic disease and its complicated progression and therapy.