Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage
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COMMENTARY
Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making Alison D. Archibald & Belinda J. McClaren
Received: 20 April 2011 / Accepted: 5 October 2011 / Published online: 17 November 2011 # Springer-Verlag 2011
Population-based screening for carrier status of genetic conditions is increasingly becoming available in developed countries with future directions including carrier testing for large numbers of genetic conditions in a single instance using next generation technologies (Bell et al. 2011). In Australia, population-based carrier screening is undertaken widely for haemoglobinopathies (Metcalfe et al. 2007) and is offered in some parts of the country for cystic fibrosis (CF) (Christie et al. 2006; Massie et al. 2009). In addition, screening is available in some states for conditions more prevalent in Ashkenazi Jewish populations, such as Tay Sachs disease (Gason et al. 2005; Barlow-Stewart et al. 2003). Fragile X syndrome (FXS) and spinal muscular atrophy have also been identified as conditions for which carrier screening could be offered (Delatycki 2008). Despite a population of approximately 21 million, there are no national screening pro-
grammes in Australia; genetics services and screening programmes vary from state to state (Metcalfe et al. 2009). Although a range of factors are important to consider when developing population-based carrier screening programmes, a challenge is how to address the apparent lack of community awareness and knowledge about genetic conditions, in particular, the risk of being a carrier. Thus, it is recognised that education is an important component of population-based genetic screening programmes. Further, consideration of psychosocial aspects, such as decision making, attitudes, and understanding, should be incorporated into any evaluation of the feasibility and acceptability of such a programme (Godard et al. 2003). In the state of Victoria, Australia, research investigating population-based carrier screening for CF and FXS has involved needs assessments incorporating exploration of a wide range of factors which may inform decisions about implementation of screening programmes for both of these conditions (Archibald et al. 2009; McClaren et al. 2008; Metcalfe et al. 2008).
B. J. McClaren Genetics Education and Health Research Royal Childrens Hospital, Murdoch Childrens Research Institute, Flemington Rd, Melbourne, Victoria, Australia
Fragile X population-based carrier screening for non-pregnant women
Background
B. J. McClaren e-mail: [email protected] A. D. Archibald : B. J. McClaren Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia A. D. Archibald (*) Royal Children’s Hospital, Genetics Education and Health Research, Murdoch Childrens Research Institute, Flemington Rd, Melbourne, Victoria, Australia e-mail: [email protected]
FXS is the leading cause of inherited intellectual disability. The carrier frequency in
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