Carrier Screening of Adolescents in Montreal

Abstract

A carrier screening programme for common genetic autosomal recessive diseases is described. The programme focuses on testing of adolescents in their last year of high school. The main purpose of this programme is to educate the population in high‐risk communities, to offer carrier screening of autosomal recessive diseases (Tay–Sachs and β‐thalassaemia diseases) and to provide counselling about reproductive options. The specific age range targeted allows for education and screening to occur before reproduction. This is a unique programme that was developed in conjunction with the community. Although there remains controversy regarding the screening of adolescents in other areas of the world, this programme is well accepted and has continued to flourish in our specific community for over 30 years.

Key concepts:

  • Genetic carrier screening programmes need education, effective counselling and support from the community to be successful.

  • Genetic screening of adolescents in our community is well accepted by the targeted populations.

  • Adolescents who obtain information through carrier testing understand their risks and later utilize this information when they consider their reproductive options.

Keywords: carrier; genetic screening; genetic testing; adolescents; reproductive counselling

References

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Further Reading

Committee for the Study of Inborn Errors of Metabolism, Division of Medical Sciences; Assembly of Life Sciences (1975) Genetic Screening. Programs, Principles, and Research. Washington DC: National Academy of Sciences.

Evans RG (1988) ‘We'll take care of it for you’: health care in the Canadian community. Daedalus 117(4): 155–189.

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Scriver CR, Beaudet AL, Sly WS and Valle D (eds) (2001) The Metabolic and Molecular Bases of Inherited Diseases, 8th edn. [Detailed descriptions of Tay–Sachs disease and the thalassemias.] New York: McGraw‐Hill.

Web Links

β‐Hemoglobin (HBB); LocusID: 3043. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3043

β‐Hemoglobin (HBB); MIM number: 141900. OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900

Hexosaminidase A (HEXA); LocusID: 3073. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3073

Hexosaminidase A (HEXA); MIM number: 272800. OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869

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How to Cite close
Scriver, Charles R, and Mitchell, John J(Dec 2009) Carrier Screening of Adolescents in Montreal. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005646.pub2]