GENETIC COUNSELING

Genetic counseling may be defined as quot;a communication process between appropriately trained person/s and the parents/prospective parents, regarding the occurrence or the risk of occurrence of a genetic disorder in a family”.

Aims: It aims to enable family members to:

• Comprehend the medical facts regarding genetic defect in the index case, e.g. diagnosis, probable course and available management,

• Appreciate the hereditary aspects and risk of recurrence in specified relatives,

• Understand the options to deal with the risk of recurrence,

• Choose the appropriate course of action, according to risk-estimates, family-goals, ethical and religious standards (and act accordingly),

• Make the best possible adjustment to the existing disorder or risk of recurrence.

Genetic counselling assists the family to make informed decision and should not be used as a forum to enforce the counselor 's views and opinions.

Indications: Genetic counseling is usually advisable in settings with:

• Family history of a genetic disease or a carrier state in parents, offspring or close-relatives.

• Obstetrical history of recurrent abortions, stillbirths or neonatal deaths

• High-risk pregnancies for genetic disease, e.g. con­sanguinity or advanced parental age.

• Identified high-risk families during screening programs, e.g. biochemical/radiological screening for Down syndrome or population screening for hemoglobinopathies.

Prerequisites: It is essential to ensure that:

• Provisional diagnosis of the index case is established to calculate the expected risk of recurrence.

• Results of carrier screening are available, if possible.

• Counsellor is well-trained in communication skills and well-informed about current knowledge on probable diagnosis/differential diagnosis.

• Session is conducted in complete confidentiality and relaxed atmosphere to ensure adequate parental comprehension.

Components: Important components of genetic counseling include:

• Assessing the comprehension capacity and knowledge of cosult and (parents), regarding probable genetic defect/s.

• Providing essential information about the specific problem in comprehensible terms, specially related to its natural course, need for diagnostic procedures, cost and usefulness of therapeutic interventions and quality/ span of life. Use of appropriate audiovisual aids, e.g. pedigree charts, facilitates parental understanding, who may also be provided with addresses of support groups and relevant books or websites.

• Explaining the probable risk of recurrence, in terms of percentages and fractions. While it is possible to provide exact risk estimates in single gene disorders, a range or magnitude of risk (high, low or negligible) should be clearly stated, based on the current knowledge, if the diagnosis is uncertain or precise risk is unknown, e.g. in chromosomal disorders.

• Offering the options regarding future conceptions, e.g. feasibility of preventive interventions, (e.g. folic acid supplementation in neural tube defects), prenatal diagnosis/therapy with costs and risks/ benefits of procedures, and alternate options, e.g. termination of an affected fetus, gene therapy, assisted reproduction or adoption. These options should be explained in unbiased and non-directive manner, avoiding recommendation of a particular option. It is emphasized that counsellor merely facilitates the decision process by parents but should never take a decision on their behalf or suggest an option, even if pressurized to do so.

• Follow-up visits to allow parents enough time to accept/understand the problem and decide future course of action.

11.5.3