Genetic Counseling Overview

Genetic Counseling Overview

What is Genetic Counseling?
Genetic Counseling is an integral part of medical genetics services. It involves providing information, education, and support to individuals and families who have a genetic condition or who may be at increased risk for developing a genetic condition. 

Who is a Genetic Counselor?
Genetic counselors or medical geneticists are experts with PhD/MD in medical or clinical geneticists with extensive knowledge on the medical genetics, laboratory genetics and community genetics.

Who attends genetic counseling?

  • Couples with history of pregnancy losses or h/o fetal defects, or those who lost children in first few ears after birth (neonatal loss)
  • Couple with children with disabilities or mental retardation
  • Families with history of genetic defects like Thalassemia, Muscular Dystrophy, Spinal Muscular atrophy, Albinism etc.
  • Couple to understand risks involved in marriage between blood relatives (consanguineous)
  • Families or individuals who want to understand pre-disposition to cancer or late on set diseases

What happens in a Genetic counseling session?
The genetic counselor reviews medical records of affected individual, draws a family pedigree of three generations, examines the affected individual, understands clinical diagnosis of the genetic disorder, explains inheritance pattern, recommends relevant tests, explains test results and recommendations.

How long does a genetic counseling session take?
It usually takes about 30-60 mins for a normal genetic counseling session. Some sessions can be longer based on the complexity involved.

How does counseling help families?
Families are helped to understand the nature of the disorder and its consequences, the mode of inheritance, the risk of recurrence of the disorder in family, relatives at risk, management of the affected individuals, options available for diagnosis in future pregnancies.

The information is communicated to the patients/families in simple terms with the help of chart and figures so that they can take important decisions based on the information. Along with increasing the awareness about the genetic condition, counseling generally offers great reassurance to families.

What is a genetic counseling letter?
Genetic counselor will elaborate the information given to family in a letter addressing the referring physician. The letter will include case history, counseling session details or discussion, list of recommendations and follow up actions to be taken. A clear communication in the form of a letter is extremely useful to physicians and prevents any miscommunication.

What do families need to bring for counseling session?
Families must get all hospital records or medical test reports of affected individuals. A referral letter from referring physician elaborating on the present condition or clinical diagnosis will be useful.