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

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ORIGINAL ARTICLE

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families Nasaim Khan & John Benson & Rhona MacLeod & Helen Kingston

Received: 2 February 2010 / Accepted: 9 July 2010 / Published online: 20 August 2010 # Springer-Verlag 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 Urduspeaking 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 N. Khan : R. MacLeod : H. Kingston Genetic Medicine and MAHSC, St. Mary’s Hospital, Central Manchester University Hospitals, Manchester M13 0JH, UK N. Khan Blackburn with Darwen PCT, Guide Business Centre, Blackburn BB1 2QH, UK J. Benson Department of Paediatrics, Royal Blackburn Hospital, Blackburn BB2 3HH, UK H. Kingston (*) Genetic Medicine, St. Mary’s Hospital and University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK e-mail: [email protected]

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. Keywords Consanguinity . Autosomal recessive disorders . Cascade genetic screening . Carrier testing . Genetic testing . Genetic services

Introduction As infant mortality falls due to better health care, congenital and genetic disorders emerge as important causes of early death and chronic disability (WHO 2000). It is recognised, but controversial, that consanguinity has an impact on the occurrence of these types of disorders. Congenital abnormalities have been shown to occur more often in the offspring of consanguineous parents than in the offspring of non-related parents (Terry et al. 1985; You

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