Advantages of expanded universal carrier screening: what is at stake?

Hout, Sanne van der; Holtkamp, Kim C. A.; Henneman, Lidewij; Wert, Guido de; Dondorp, Wybo

doi:10.1038/ejhg.2016.125

Cited by 44 publications

(62 citation statements)

References 26 publications

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“…One of the supposed advantages of ECS for multiple disorders simultaneously is that it reduces the chance of stigmatization as it allows testing regardless of ancestry [23]. In this genetically isolated community, however, this was not found to be a recognizable concern.…”

Section: Discussionmentioning

confidence: 84%

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

et al. 2018

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Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%). Familiarity with the genetic disorders was high. Knowledge after counseling increased (p < 0.001); however, still 9%, compared to 29% before counseling, wrongly mentioned an increased risk of having an affected child if both parents are carriers of different disorders. Most attendees (97%) recalled their test results correctly, but two couples reported being carrier of another disorder than reported. Overall, 63% felt worried while waiting for results but anxiety levels returned to normal afterwards. In all, 2/39 (5%) carriers felt less healthy. Screened individuals were very satisfied; they did not regret testing (97%) and would recommend testing to others (97%). The majority (94%) stated that couples should always have a pretest consultation, preferably by a genetic counselor rather than their general practitioner (83%). All carrier couples made reproductive decisions based on their results. Main reason for non-attendance was unawareness of the screening offer. With expanded carrier screening, adequately informing couples pretest and posttesting is of foremost importance. Close influencers (family/friends) can be used to raise awareness of a screening offer. Our findings provide lessons for the implementation of expanded carrier screening panels in other communities and other settings.

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Section: Discussionmentioning

confidence: 84%

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

et al. 2018

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“…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.…”

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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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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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“…In these regard, the American College of Obstetricians and Gynecologists (ACOG) has clearly noted that it is becoming increasingly difficult to assign a single ethnicity to affected individuals and concluded that it is reasonable to offer the same CF carrier screening panel to all individuals regardless of their ethnic background (American College of Obstetricians and Gynecologists Committee on Genetics, 2011). Consistent with the growing discussion regarding expanded preconception carrier screening (Edwards et al 2015;Grody et al 2013;Haque et al 2016;van der Hout et al 2016), the initial report of the CFTR2 project estimated that testing for 127 variants, meeting both clinical and functional criteria consistent with a disease state would account for 95.4% of CF alleles in their cohort and increase the detection rate for couples undergoing carrier screening from 72% to nearly 91% (Sosnay et al 2013). More recently, the concern of insufficient detection rates in many populations was assessed, and expanded preconception carrier screening panels for CF have been demonstrated to yield higher detection rates ).…”

Section: Introductionmentioning

confidence: 67%

“…Comprehensive preconception screening programs, including that of the CFTR gene, have recently been a source of intense discussion (Edwards et al 2015; Haque et al 2016;van der Hout et al 2016). Screening and diagnostic panels are often requested based on detection rates and residual risks which depend on the tested mutations and the tested population (American College of Obstetricians and Gynecologists Committee on Genetics, 2011;Lim et al 2016;Richards et al 2002).…”

Section: Discussionmentioning

confidence: 99%

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

Behar

Inbar²,

Shteinberg

et al. 2017

Molec Gen & Gen Med

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BackgroundPreconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan‐population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients.MethodsAn Israeli nationwide genotyping of 152 CF cases, representing 176 patients lacking molecular diagnosis, was conducted. Molecular analysis included Sanger sequencing for all exons and splice sites, multiplex ligation probe amplification (MLPA), and next‐generation sequencing of the poly‐T/TG tracts.ResultsWe identified 54 different mutations, of which only 16 overlapped the 22 mutations included in the Israeli preconception screening program. A total of 29/54 (53.7%) mutations were already listed as CF causing by the CFTR2 database, and only 4/54 (7.4%) were novel. Molecular diagnosis was reached in 78/152 (51.3%) cases. Prenatal diagnosis of 24/78 (30.8%) cases could have been achieved by including all CFTR2‐causing mutations in the Israeli panel.ConclusionsOur data reveal an overwhelming hidden abundance of CFTR gene mutations suggesting that expanded preconception carrier screening might achieve higher preconception detection rates.

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Advantages of expanded universal carrier screening: what is at stake?

Cited by 44 publications

References 26 publications

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

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

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

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