The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.

Hartley, Nicola; Scotcher, Daniel; Harris, Herbert I.; Williamson, PR; Wallace, Andrew; Craufurd, David; Harris, Rodney

doi:10.1136/jmg.34.6.459

Cited by 38 publications

(57 citation statements)

References 15 publications

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“…28 Some studies showed that carriers perceived their current health to be poorer than that of noncarriers, 73,76 although other studies showed no difference between carriers and noncarriers for past, present, and future perception of health. 67,84 Despite these reports, 83-97% of those screened, including carriers, felt that they made the right decision and would make the same decision again, 20,34,69,78 with only 2-12% stating that they were unsure or regretted their decision to have screening. 66,78 …”

Section: Outcomes and Follow-up Of Screening For Cf Carrier Statusmentioning

confidence: 99%

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

Ioannou

McClaren

Massie

et al. 2014

Genetics in Medicine

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Section: Outcomes and Follow-up Of Screening For Cf Carrier Statusmentioning

confidence: 99%

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

Ioannou

McClaren

Massie

et al. 2014

Genetics in Medicine

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“…Harris et al in the UK implemented a pilot project in 1991 that offered testing free of charge to women at their first diagnosis of pregnancy in general practice, and GPs themselves conducted the counselling as well as providing a leaflet (Harris et al 1992;Harris et al 1996). All but one woman accepted screening (75/76), only one regretted being tested and the acceptability of the pilot led to it being rolled out to further practices (Harris et al 1993) with a reported overall uptake of 84.9%, although uptake ranged from 11 to 99% in the eight practices (Hartley et al 1997). After receiving their result, 97% felt they had made the right decision, while generally full disclosure of results to couples was associated with lower anxiety compared with the two-step method, although 29% of non-carriers believed they had no residual risk (Hartley et al 1997).…”

Section: Preconception Carrier Screening For Cf In Primary Carementioning

confidence: 99%

“…All but one woman accepted screening (75/76), only one regretted being tested and the acceptability of the pilot led to it being rolled out to further practices (Harris et al 1993) with a reported overall uptake of 84.9%, although uptake ranged from 11 to 99% in the eight practices (Hartley et al 1997). After receiving their result, 97% felt they had made the right decision, while generally full disclosure of results to couples was associated with lower anxiety compared with the two-step method, although 29% of non-carriers believed they had no residual risk (Hartley et al 1997). Another UK study in primary care revealed somewhat lower uptake of 62% (Cuckle et al 1996).…”

Section: Preconception Carrier Screening For Cf In Primary Carementioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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“…These factors included a desire to assist with the medical research being conducted, a particular health care provider's influence, and the client's perceived difficulty or inability to refuse the offer to test. According to the studies carried out by Harris et al, 35 Hartley et al, 18 and Delvaux et al, 3 all of which employed health care providers to explain the research project to participants, pregnant women claimed "feeling they could not refuse the (CF carrier) test" as one of the main reasons for agreeing with testing. In addition, Poppelaars et al 36 indicated that recently married couples who felt "high perceived pressure from experts" were more likely to accept preconceptional CF carrier testing.…”

Section: Research-related Factors (Non-hbm)mentioning

confidence: 99%

“…Large sample (Ͼ300) 18 623 pregnant women (Ͻ14 weeks' gestation) received a leaflet regarding CF carrier testing and were asked whether they wanted to be tested. A total of 529 (84.9%) women accepted the test.…”

Section: Perceived Benefits Of Undergoing Cf Carrier Testing/screeningmentioning

confidence: 99%

Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic review

Chen

Goodson

2007

Genetics in Medicine

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Purpose: To assess factors affecting individuals' decision to accept or decline cystic fibrosis carrier testing/ screening, as reported in studies published until December 2006. The Health Belief Model guided classification of each factor, and the studies' methodological quality was assessed. Methods: A three-stage search and retrieval process, alongside application of specific inclusion/exclusion criteria, yielded 40 studies (in 35 articles). For each reviewed study, authors abstracted and organized selected data into a matrix and assigned a methodological quality score. Results: The four most frequently identified acceptance factors included three Health Belief Model factors and one non-Health Belief Model factor: perceived benefits of undergoing cystic fibrosis carrier testing/ screening, weaker perception of barriers to cystic fibrosis carrier testing/screening, fewer/no children or desiring children, and research-related factors (non-Health Belief Model factor construct). All four most frequent factors associated with declining testing were Health Belief Model factor constructs: perceived barriers to obtaining cystic fibrosis carrier testing/screening, parity, lack of knowledge, and weaker perception of benefits of undergoing cystic fibrosis carrier testing/screening. The average methodological quality of the studies was 10.2 (SD ϭ 3.2; range, 5-18 points). Conclusions: The methodological and theoretical quality of this body of literature could be substantially improved if researchers employed theory-based approaches, tested (and reported) the validity/reliability of their own data, and employed multivariate statistical analyses and/or better controlled research designs. Improving the quality of future studies may allow better inferences regarding the relative contribution of each factor identified in this review to individuals' decision-making process. Genet Med 2007:9(7):442-450. Key Words: cystic fibrosis, factors, carrier testing, carrier screening, systematic reviewAs the most frequent autosomal recessive disease among whites, cystic fibrosis (CF) affects nearly one in 2500 livebirths within this group, and approximately 1 in 25 white individuals are carriers. 1 After scientists identified the CF gene in 1989 and developed sensitive tests (able to detect mutations associated with CF among 75-95% of carriers 2,3 ), carrier testing/screening became feasible and an important aid in preventing or managing CF. 4 Carrier testing for CF provides individuals with relevant information for family planning and for the purpose of preventing or preparing for an affected child because early diagnosis can reduce medical costs and lessen parents' suffering due to uncertainty. 5 Even though professional organizations have recommended CF carrier screening and providers have made testing a routine obstetric practice since 2001, 6 -8 uptake of the test remains relatively low, especially for preconception purposes. Murray et al. 5 documents an average acceptance rate for prenatal CF carrier testing of 74% (range, 59 -99%) ...

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The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.

Cited by 38 publications

References 15 publications

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

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

Carrier screening in preconception consultation in primary care

Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory-guided systematic review

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