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Journal of Community Genetics : Volume 1, Issue 1, March 2010

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Content Provider	Springer Nature Link
Author	Khan, Nasaim Benson, John MacLeod, Rhona Kingston, Helen
Copyright Year	2010
Abstract	Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urdu-speaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.
Starting Page	73
Ending Page	81
Page Count	9
File Format	PDF
ISSN	1868310X
Journal	Journal of Community Genetics
Volume Number	1
Issue Number	2
e-ISSN	18686001
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-08-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Consanguinity Autosomal recessive disorders Cascade genetic screening Carrier testing Genetic testing Genetic services Gene Function Gene Therapy Epidemiology Public Health/Gesundheitswesen Human Genetics
Content Type	Text
Resource Type	Article
Subject	Public Health, Environmental and Occupational Health Epidemiology Genetics (clinical)

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