Volume 192 - Issue 4
Outcomes of a cystic fibrosis carrier testing clinic for couples
Authors: Louise M Christie, Angela J Ingrey, Gillian M Turner, Anne L Proos and Gloria E Watts
Med J Aust 2010; 192 (4): 238-239. || doi: 10.5694/j.1326-5377.2010.tb03492.x
Published online: 15 February 2010
Published online: 15 February 2010
In reply: Our aims in publishing the outcomes of offering cystic fibrosis (CF) carrier testing to couples were to demonstrate the high acceptability rate and report the reproductive choices made by high-risk couples. Not all decisions resulted in termination.
O’Leary and colleagues rightly raise the question of screening costs. Laboratory costs will reduce with economies of scale and centralisation of testing. The recent release of a position paper on population screening for CF by the Human Genetics Society of Australasia1 will influence the demand for testing. It recommends that all couples intending to have children, and women in early pregnancy and their partners, be made aware of the availability of CF carrier testing, and that couples should be offered testing for 10 CF transmembrane conductance regulator gene mutations using an expanded one-step or two-step model.
O’Leary and colleagues suggest that cascade testing of those with a family history of CF would be a more effective strategy. However, only 10% of children born with CF have a family history.2 Studies have demonstrated that costs of CF screening are less than the averted medical care costs associated with fewer births of infants with CF.3-5 Although economic considerations are important, these should not form the primary goal of any screening program.
References
- Human Genetics Society of Australasia. Cystic fibrosis population screening position paper. (Document No. PP01.) Sydney: HGSA, 2009. http://www.hgsa.com.au/images/UserFiles/Attachments/CysticFibrosisPositionPaper.pdf (accessed Dec 2009).
- Massie RJ, Olsen M, Glazner J, et al. Newborn screening for cystic fibrosis in Victoria: 10 years’ experience (1989–1998). Med J Aust 2000; 172: 584-587. 0_i1091859
- Wildhagen M, Hilderink H, Verzijl J, Verheij J. Costs, effects, and savings of screening for cystic fibrosis gene carriers. J Epidemiol Community Health 1998; 52: 459-467. 0_i1091861
- Rowley PT, Loader S, Kaplan RM. Prenatal screening for cystic fibrosis carrier: an economic evaluation. Am J Hum Genet 1998; 63: 1160-1174. 0_pgfId-1986961
- Radhakrishnan M, Van Gool K, Hall J, et al. Economic evaluation of cystic fibrosis screening: a review of the literature. Health Policy 2008; 85: 133-147. 0_i1091865