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Genetic Counselling

It is the most immediate and practical service that genetics can render in medicine and surgery
Counselling should include a full description of the risks, diagnosis, symptoms, and treatment of the disorder(s) in question

Genetic counselling may be prospective or retrospective
Prospective genetic counselling:

  • This allows for the true prevention of disease
  • Identifying heterozygous individuals for any particular defect by screening procedures and explaining to them the risk of their having affected children if they marry another heterozygote for the same gene.
  • In other words, if heterozygous marriage can be prevented or reduced, the prospects of giving birth to affected children will diminish
  • The application in this field e.g. are sickle cell anemia and thalassemia

Retrospective genetic counselling:

  • Most genetic counselling is at present retrospective, i.e. the hereditary disorder has already occurred within the family
  • A survey by WHO showed that genetic advice was chiefly sought in connection with congenital abnormalities, mental retardation, psychiatric illness and inborn errors of metabolism and only a few sought premarital advice
  • The WHO recommends the establishment of genetic counselling centers in sufficient numbers in regions where
  • The infectious disease and nutritional disorder have been brought under control and
  • In areas where genetic disorders have always constituted a serious public health problem e.g. sickle cell anemia and thalassemia
  • The methods which could be suggested under retrospective genetic counselling are:
  • Contraception
  • Pregnancy termination and
  • Sterilization depending upon the attitudes and cultural environment of the couples involved

In a few nations, notably the United States and Canada, genetic counselling exists as a separate profession.

  • Counsellors have received advanced post-graduate training in both genetics and psychosocial counselling, but are not physicians

Carrier testing may need to be done after counselling (e.g., for Tay-Sachs, sickle-cell, or beta thalassaemia):

  • In high-risk families or
  • Entire population (screening programs)
  • Should preferably be performed before, rather than after, conception because it allows a choice of preconception alternatives.
  • All testing should be voluntary after the couples are fully informed

References:

  • Park’s Textbook of Preventive and Social Medicine, 23rd ed.
  • WORLD HEALTH ORGANIZATION, 2003. Review of Ethical Issues in Medical Genetics: Human Genetics Programme, Management of Non-communicable Diseases; Geneva: WHO/HGN/ETH/00.4

Eugenics: Eugenics
Negative Eugenics and Positive Eugenics: Eugenics
Euphenics: Euphenics
Euthenics: Euthenics
Genetic Counselling: Genetic Counselling
Neonatal Screening: Neonatal Screening
Prenatal Diagnosis: Prenatal Diagnosis
Gene therapy: Gene therapy
Erythroblastosis Foetalis: Erythroblastosis Foetalis
Role of Genetic Predisposition in Common Disorders: Role of Genetic Predisposition in Common Disorders

Difference between ‘Eugenics’ and ‘Genetic Counselling’: Difference between ‘Eugenics’ and ‘Genetic Counselling’

FAQs in Genetics and Health (lecture): Genetics and Health