Screening for carriers of cystic fibrosis through primary health care services.

Abstract

will be interesting to see how the reformed NHS deals with this question. This is vet another reason for our erring on the side of financial caution. ConclusionWe have to ask ourselves whether or not we are really enhancing patient choice and using monev to the best effect. What is absolutely certain is that we are spending a lot of management and clinical time making decisions on a relatively small number of patients. This time may not be used to its best advantage.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

“…[10][11][12]20 The general population believed results of screening would influence their reproductive decisions. 10,21,22 Interest in screening was high, with 54-80% of the general population showing interested, 19,[22][23][24] although interest differed depending on life stage, with those of reproductive age showing more interest than those who had finished or were yet to start their families. 19,24,25 Population-based CF carrier screening can be implemented at various life stages, including the neonatal stage, high school and college age, reproductive age, when planning a family, or during the early stages of pregnancy.…”

“…42,43 How information is provided has been explored, with 77-96% reporting brochures/information leaflets as useful. 14,21,41,44,45 The main information that potential participants wanted to receive was information about CF and screening, in particular, the risk of being a carrier and having a child with CF. 46 Written and audiovisual information were found to be equally effective.…”

“…15,31,59 Knowledge of cF and genetic screening Evaluating knowledge of CF and CF carrier screening can assess individuals'/couples' informed decision making in the context of accepting or declining such an offer. Knowledge has been tested at various points during the screening process: before receiving information, after receiving [27][28][29]63 In general, the studies showed that participants were unaware that CF is an inherited condition, 12,21,24,57 did not know that CF affected the lungs, 10,12,61 were unaware that the majority of carriers do not have a family history of CF, 16,21,61 and thought carriers had symptoms of the disease. 61 Knowledge levels increased after receiving information on CF and screening.…”

Measuring informed choice in population-based reproductive genetic screening: a systematic review

“…11,13,26,[28][29][30][31][32][33][34][35] Twenty-two studies were prospective, 12,28,[36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55] including cross-sectional, 41,42,49 quasi-experimental, 53 pilot, 50 and longitudinal study designs. 52 Of the RCTs, five involved an information or educational intervention, 28,29,[32][33][34] five randomised the screening offer, 11,13,26,30,35 and there was one decision aid trial.…”

Carrier screening in preconception consultation in primary care

“…The active opportunistic offer of CF carrier screening in the UK was associated with greater uptake of testing when sample collection occurred immediately (i.e., without needing to return on another occasion) in general practice clinics (66%) or family planning clinics (87%), compared with only 10% tested in those who were offered a screening appointment by letter (Watson et al 1991b). Uptake was higher in family planning clinics "because a higher proportion of those attending were young and had not yet had children and, therefore, perceived the test as particularly relevant to them" and the authors also felt that those who attended the clinics to see their doctor because they were unwell were less likely to participate (Watson et al 1991b). Similar trends of lower uptake following an offer by letter, rather than directly by a clinician/researcher, were also seen in other UK (Bekker et al 1993;Payne et al 1997), USA Clayton et al 1996), and the Netherlands (Henneman et al 2001b;Henneman et al 2003;Lakeman et al 2009) studies.…”