Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Holtkamp, Kim C. A.; Henneman, Lidewij; Meijers-Heijboer, Hanne; Cornel, Martina C.; Lakeman, Phillis

doi:10.1007/s12687-018-0388-y

Cited by 5 publications

(4 citation statements)

References 26 publications

(41 reference statements)

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“…Although ECS allows testing regardless of risk, the majority of the participants in our study had a high a priori risk. This finding is similar to a study by Holtkamp et al where an online direct-to-consumer test for CF intended for the general population was evaluated and mainly used by people with a positive family history [ 41 ]. Another limitation is that there is no ‘gold standard’ to measure informed choice [ 33 ], and couples’ deliberation for testing was not assessed.…”

Section: Discussionsupporting

confidence: 89%

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

et al. 2021

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Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

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Section: Discussionsupporting

confidence: 89%

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

et al. 2021

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“…Cystic fibrosis is estimated to be the most common AR condition in populations of European descent. The average birth prevalence is 1 in 2500-3500, and the carrier frequency is 1 in 25-30 [22]. Mutations cause the disorder in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to abnormal expression of its product -the CFTR protein.…”

Section: History and Basics Of Targeted Carrier Screeningmentioning

confidence: 99%

Carrier Screening for Single-Gene Disorders – A Brief Review

Kovacheva

Nikolova

Kamburova

2021

Journal of Biomedical and Clinical Research

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Summary Carrier screening (CS) is an approach to pre-reproductive identification of couples at risk of having offspring with a single-gene disorder (SGD). The goal of CS is to facilitate reproductive autonomy and informed decision-making of the revealed risk couples. Initially, CS was introduced in the 1970s among the Ashkenazi Jewish population in the USA with a high incidence of Tay-Sachs disease. Until recently, CS had a limited application, mainly among individuals of a particular ethnicity or family history of SGD, and a limited number of conditions are included. Implementing the revolutionary technology of next-generation sequencing revealed a much more comprehensive range of possibilities for CS. The expanded alternative variant introduced a new concept that allows screening for hundreds to thousands of SGDs without pre-selection of individuals based on their ancestry or family history. Furthermore, the number of detected pathogenic variants is much higher compared to the traditional CS. Currently, there is insufficient experience with the application of expanded CS, and the lack of uniform guidelines is a major problem when it comes to massive implementation. Nevertheless, the significant potential of the expanded CS has given rise to a growing interest in it and provoked in-depth discussions about the opportunities of widespread application in practice.

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“…In 2010, CF carrier screening was offered direct‐to‐consumer via a hospital website. The offer ended after 6 years because of the low uptake and the fact that it was not primarily used by people without a family history of CF …”

Section: The Netherlandsmentioning

confidence: 99%

“…The offer ended after 6 years because of the low uptake and the fact that it was not primarily used by people without a family history of CF. 53 In a genetically isolated population (village) in the northwest of the Netherlands, preconception carrier screening for five conditions more common in that community has been offered since 2012. 54 ECS was offered in an implementation pilot study in the Northern Netherlands in 2016.…”

Section: The Netherlandsmentioning

confidence: 99%

International perspectives on the implementation of reproductive carrier screening

et al. 2019

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Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay‐Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X‐linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry‐based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

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Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Cited by 5 publications

References 26 publications

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

Carrier Screening for Single-Gene Disorders – A Brief Review

International perspectives on the implementation of reproductive carrier screening

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