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

Ioannou, Liane; McClaren, Belinda; Massie, John; Lewis, Sharon; Metcalfe, Sylvia; Forrest, Laura; Delatycki, Martin B.

doi:10.1038/gim.2013.125

Cited by 78 publications

(77 citation statements)

References 89 publications

(190 reference statements)

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“…These scales were based on previous research, where factors related to intended participation in PCS for cystic fibrosis were studied. 24 Perceived severity was measured with four items on a 5-point scale (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Respondents were asked how disturbing it would be to have a child with either severe pain, severe physical disability or severe intellectual disability, or who would die at a young age.…”

Section: Groupmentioning

confidence: 99%

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Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

et al. 2017

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Next-generation sequencing enabled us to create a population-based expanded carrier screening (ECS) test that simultaneously tests for 50 serious autosomal recessive diseases. Before offering this test universally, we wanted to know what factors are related to intended participation and how the general public can be informed about the test without being influenced in their intention to participate. We studied this by measuring to what extent 'message framing' and 'narrative information' can influence people's intended participation. Data were collected by means of an online survey of 504 potential users, and the factors examined were based on the Theory of Planned Behaviour and on previous research on intended participation in preconception carrier screening. Message framing was manipulated by explaining the risk of couple carriership in different ways, while narrative information was provided to only half of the respondents. The factors most positively related to intended participation were perceiving benefits of the screening, having a positive attitude towards the screening, having no religion, having an actual child wish and experiencing the choice to participate as easy. Perceived benefits and a positive attitude were most influential factors by far. Message framing and narrative information had no significant effect on intended participation, reinforcing that message framing and narrative information can help to inform the general public about ECS without influencing their intended participation. Future research should study if the importance of perceived benefits and a positive attitude can be replicated when other factors are included and when actual participation is measured instead of intended participation. European Journal of Human Genetics (2017) 25, 793-800; doi:10.1038/ejhg.2017.74; published online 3 May 2017 INTRODUCTION Approximately 1-2 in 100 couples are at risk of having a child affected with a recessive genetic condition. 1 Population based expanded carrier screening (ECS) makes it possible to test couples before pregnancy for relevant recessive genetic conditions simultaneously. The preconception period might be considered a better time than the prenatal period, because it results in more reproductive options being available and termination of pregnancy can be avoided. 2 Next-generation sequencing techniques enabled us to create such a population-based ECS test that simultaneously tests for 50 serious autosomal recessive diseases. 3 The composition of this panel was based on previous research, multidisciplinary discussions and stakeholder meetings. Screening results are couple-based, so only couples who are both carriers of the same disease get positive results. However, before this test can be offered in a public healthcare setting, we needed a better understanding of the factors driving intended participation and how the general public could be better informed-but not influenced -in their intention to participate. This information is important because it is clear from previous research a...

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Section: Groupmentioning

confidence: 99%

“…These factors were also mentioned in more recent studies and preconception carrier testing for other type of diseases. 13,14 However, it is still unknown if these factors will also be related to intended participation in ECS.…”

Section: Introductionmentioning

confidence: 99%

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

et al. 2017

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“…To allay concerns that this may not provide sufficient information for all individuals, multiple methods of information delivery (i.e., information brochures, decision aids, smart phone applications, websites, and the opportunity to speak to a genetic counselor by telephone) could be used so that additional information and support is available to those who require it (Birch 2015;McWalter et al 2015). Research has shown that as more conditions are added to screening programs, condition-specific knowledge decreases (Ioannou et al 2014). Therefore, information delivery may need to focus on the common aspects of the genetic conditions (Edwards et al 2015) and screening tests, and ensure that people comprehend the general implications of a carrier result rather than retaining detailed and conditionspecific information about genetics and inheritance.…”

Section: Discussionmentioning

confidence: 99%

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

et al. 2016

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This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an indepth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals' approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.

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“…However, this research has mostly been limited to single-gene conditions and performed among target populations for certain conditions—for example, individuals already affected with a genetic recessive disorder and their parents and relatives (11). There is still limited knowledge about public perceptions towards population-based PCS and PCS using expanded panels.…”

Section: Introductionmentioning

confidence: 99%

Swedish parents’ interest in preconception genetic carrier screening

Ragnar

Tydén

Kihlbom

et al. 2016

Upsala Journal of Medical Sciences

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IntroductionGenetic technologies advance rapidly. It is possible to undergo genetic carrier screening before pregnancy to examine genetic risks to future offspring. We aimed to investigate parents’ interest and motives towards preconception genetic carrier screening (PCS) as well as factors associated with interest in PCS.Material and methodsOur study sample consists of 777 parent couples within the longitudinal Swedish Pregnancy Planning study. Women responded to questionnaires at three occasions: in early pregnancy, late pregnancy, and one year after childbirth. Male partners responded to one questionnaire one year after childbirth.ResultsOne-third of the parents were positive (30% versus 34% of women and men, respectively), less than a third were negative (26% versus 28%), and 45% versus 38% were uncertain about whether to consider PCS before a future pregnancy. No differences in PCS interest were found between women and men (P = 0.091), but a higher proportion of women were concerned about negative consequences (53% versus 46%, P < 0.003) and were ‘opposed to such a way of child selection’ (31.8% versus 25.2%, P = 0.002). Factors associated with PCS interest were experiences of prenatal diagnostics and positive attitudes towards finding out or choosing sex of one’s child (women), and prenatal diagnostics, self-rated poor health, and pregnancy planning (men).ConclusionBoth women and men had relatively high uncertainty towards PCS, but women were more concerned about negative consequences. The future extent of the clinical utility of PCS is currently unknown, but parents’ interests and doubts are important aspects to consider.

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

Cited by 78 publications

References 89 publications

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

Swedish parents’ interest in preconception genetic carrier screening

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