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: http://www.ihatepsm.com/blog/eugenics
Negative Eugenics and Positive Eugenics: http://www.ihatepsm.com/blog/eugenics
Euphenics: http://www.ihatepsm.com/blog/euphenics
Euthenics: http://www.ihatepsm.com/blog/euthenics
Genetic Counselling: http://www.ihatepsm.com/blog/genetic-counselling
Neonatal Screening: http://www.ihatepsm.com/blog/neonatal-screening
Prenatal Diagnosis: http://www.ihatepsm.com/blog/prenatal-diagnosis
Gene therapy: http://www.ihatepsm.com/blog/gene-therapy
Erythroblastosis Foetalis: http://www.ihatepsm.com/blog/erythroblastosis-foetalis
Role of Genetic Predisposition in Common Disorders: http://www.ihatepsm.com/blog/role-genetic-predisposition-common-disorders
Difference between ‘Eugenics’ and ‘Genetic Counselling’: http://www.ihatepsm.com/blog/difference-between-%E2%80%98eugenics%E2%80%...
FAQs in Genetics and Health (lecture): http://www.ihatepsm.com/category/genetics-and-health