Attitudes of European Geneticists Regarding Expanded Carrier Screening

Janssens, Sandra; Chokoshvili, Davit; Vears, Danya F.; Paepe, Anne De; Borry, Pascal

doi:10.1016/j.jogn.2016.08.012

Cited by 30 publications

(66 citation statements)

References 40 publications

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“…8,17 They also found that physicians and genetic counselors have favorable views about the benefit of carrier screening for an expanded number of conditions. 8,[17][18][19] Of the few studies that have sought to identify which factors influence the opinions of patients on ECS and their decision to proceed with ECS when offered, an online survey by Plantinga and colleagues 12 in the Netherlands indicated that a third of responders, men or women aged 18 to 40 years and living with a partner, would elect to have ECS performed if it were offered and that they would prefer such testing to be offered by their general practitioner.…”

Section: Introductionmentioning

confidence: 91%

“…Despite the continued use and advancement of ECS, few studies have looked at patient attitudes towards its use, and even fewer have sought to identify patient factors or characteristics that may influence their decision to undergo ECS versus other more conventional screening options. In contrast, several studies have identified physician and other health care professional attitudes towards ECS . Collectively, these studies identified a wide variability in knowledge about basic genetics and carrier screening concepts and integration of ECS in clinical practice .…”

Section: Introductionmentioning

confidence: 99%

“…In contrast, several studies have identified physician and other health care professional attitudes towards ECS. 8,[17][18][19] Collectively, these studies identified a wide variability in knowledge about basic genetics and carrier screening concepts and integration of ECS in clinical practice. 8,17 They also found that physicians and genetic counselors have favorable views about the benefit of carrier screening for an expanded number of conditions.…”

Section: Introductionmentioning

confidence: 99%

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The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Larsen

Strassberg

et al. 2019

Prenatal Diagnosis

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Objective To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling. Methods We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy‐related factors. Results ECS was offered to 483 of 500 women, and 192 (39.8%) accepted. Of the 67 women counseled preconceptionally, 46 (68.7%) accepted ECS. This was significantly more than for 416 women counseled during pregnancy, of whom 146 (35.1%) accepted (P ≤ 0.001). For pregnant patients, the mean gestational age of those accepting ECS (12 weeks 3 days; n = 146) was significantly lower than those declining (13 weeks 4 days; n = 270; P ≤ 0.001). The acceptance rates were 7 of 12 (58.3%, P = 0.195) for Ashkenazi Jewish women, 12 of 41 (29.3%; P = 0.186) for Asian women, and 7 of 25 (28.0%; P = 0.241) for women of mixed ethnicity. Conclusions These results suggest that receiving genetic counseling prior to or earlier in the first trimester is associated with acceptance of ECS and support the importance of early genetic counseling about carrier screening options.

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Section: Introductionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Larsen

Strassberg

et al. 2019

Prenatal Diagnosis

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“…Informed consent was obtained from all participants included in the study. The questions addressed in this paper were part of a study exploring ECS more broadly, including recommendations for the composition of ECS panels and the desirability of population-wide ECS [ 19 , 20 ].…”

Section: Methodsmentioning

confidence: 99%

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views

et al. 2017

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BackgroundCarrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice.MethodsWe conducted semi-structured interviews with sixteen European clinical and molecular geneticists with expertise in carrier screening to explore their views on the implementation of ECS in the clinical setting.ResultsUsing inductive content analysis, we identified content categories relevant to the pre- and post-test settings. Participants believed ECS would ideally be targeted at couples before pregnancy. There was some disagreement regarding the acceptability of performing ECS in individuals, with several participants actively opposing individual-based screening. In addition, participants discussed the importance of ensuring informed and voluntary participation in ECS, recommending measures to minimize external pressure on prospective parents to undergo testing. A need for adequate counseling to foster informed, autonomous reproductive decision-making and provide support for couples found to be at risk was emphasized.ConclusionsPractical challenges in optimizing pre-test education and post-test counseling should not be underestimated and they should be carefully addressed before implementing ECS in the clinical setting.

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“…The debate as to whether to include WGS in NBS is currently taking place in many jurisdictions ( 3 – 5 ). There are, however, considerable concerns among health-care practitioners, including limited benefit of WGS for most healthy people in the general population, lack of expertise among non-genetic health-care providers, potential negative implications for society and scarce economic resources ( 6 – 8 ). It is clear that there is a gap between what is technically possible and the clinical services available.…”

Section: Introductionmentioning

confidence: 99%

Whole-Genome Sequencing in Newborn Screening—Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

Искров

Ivanov

Wrenn

et al. 2017

Front. Public Health

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ObjectiveThe aim of this study was to assess the attitudes and opinions on the potential use of whole-genome sequencing (WGS) in conjunction with the traditional newborn screening (NBS). We conducted an online survey among pediatricians and geneticists from Bulgaria. The study was based on the concept of non-selective WGS for all newborns and analysis of all genes.Results/conclusionIn total, 120 out of 299 invited participants completed the survey, with an overall response rate of 40.1%. While half of the pediatricians surveyed supported population-based non-selective WGS in NBS, 65.2% of the geneticists expressed concerns. Most participants underlined that ethical issues were as important as medical ones and called for a stricter protection of affected individuals against any abuse of their personal data. Extensive genetic counseling and psychological support to families were mentioned as key elements in this potential activity. Nevertheless, both pediatricians and geneticists considered that NBS in Bulgaria could be further developed, with selective WGS being suggested as a potential option. While non-selective WGS for all newborns is not currently perceived as feasible, pediatricians and geneticists do believe that selective WGS could strengthen current NBS programs. Cross-border project collaborations may set the stage for generating experience and evidence on these complex issues.

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Attitudes of European Geneticists Regarding Expanded Carrier Screening

Abstract: Although a limited ECS offer is practical, it also raises concerns over equality in access to screening. A comprehensive risk-benefit analysis is needed to determine the desirability of systematic population-wide ECS.

Cited by 30 publications

References 40 publications

The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views

Whole-Genome Sequencing in Newborn Screening—Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

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