Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population

Wildhagen, M. F.; Os, Th. A. M. Van; Polder, J.J.; Kate, Leo P. ten; Habbema, J. Dik F.

doi:10.1159/000016133

Cited by 28 publications

(54 citation statements)

References 28 publications

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“…G Pembrey and co-workers 2 provided a descriptive framework for different strategies, and recommended a 5-year programme of active case finding and cascade screening in the UK. G Wildhagen and co-workers 8 developed a decision analytic model to compare prenatal, preconceptual and school screening for FXS in The Netherlands. They found that all strategies have a favourable cost-saving balance.…”

Section: Discussionmentioning

confidence: 99%

“…During the first 10 years, the estimated direct cost per year to the NHS in England and Wales is £0.7-0.2 million by active cascade screening and £14. [5][6][7][8][9].1 million by a programme of prenatal screening. The incremental cost per extra carrier detected (using current practice as the reference standard) is on average only £165 (range: £129-182) by active cascade screening and £7543 (range: £5316-14,636) by prenatal screening.…”

Section: Findings Of the Fxs Modelmentioning

confidence: 99%

“…2 In the existing models of screening for FXS, the accuracy of testing the number of CGG repeats has been assumed to be 100%. 7,8 …”

Section: Combination Of Pcr and Selective Southern Blottingmentioning

confidence: 99%

“…Wildhagen and co-workers 8 provided a decision analytic model to compare prenatal, preconceptual and school screening for FXS over a 1-year period in a hypothetical population of 100,000 couples in The Netherlands (the analyses were actually focused on the comparison of prenatal and preconceptual screening). The structure of the model was not explicitly presented in the paper.…”

Section: A Model Of Prenatal Preconceptual and School Screening In Tmentioning

confidence: 99%

“…The assumptions about the prevalence and expansion risk from PM to FM were similar to that in a model of population screening programmes. 8 The first generation contained 100,000 couples and each partner of these couples was assigned a carrier status. The number of children of reproductive couples was assumed to be four for the first-and second-generation couples, three for the third-generation couples and two for the fourth-generation couples.…”

Section: A Simulation Modelling Of Cascade Testing In the Netherlandsmentioning

confidence: 99%

See 4 more Smart Citations

Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

101

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Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per monograph and for the rest of the world £3 per monograph.You can order HTA monographs from our Despatch Agents:-fax (with credit card or official purchase order) -post (with credit card or official purchase order or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you either to pay securely by credit card or to print out your order and then post or fax it. Contact details are as follows: Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to Direct Mail Works Ltd and drawn on a bank with a UK address. Paying by credit cardThe following cards are accepted by phone, fax, post or via the website ordering pages: Delta, Eurocard, Mastercard, Solo, Switch and Visa. We advise against sending credit card details in a plain email.Paying by official purchase order You can post or fax these, but they must be from public bodies (i.e. NHS or universities) within the UK. We cannot at present accept purchase orders from commercial companies or from outside the UK. How do I get a copy of HTA on CD?Please use the form on the HTA website (www.hta.ac.uk/htacd.htm). Or contact Direct Mail Works (see contact details above) by email, post, fax or phone. HTA on CD is currently free of charge worldwide.The website also provides information about the HTA Programme and lists the membership of the various committees. HTAScreening for fragile X syndrome: a literature review and modelling study NHS R&D HTA ProgrammeT he NHS R&D Health Technology Assessment (HTA) Programme was set up in 1993 to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and provide care in the NHS.The research reported in this monograph was commissioned by the HTA Programme. Technology assessment reports are completed in a limited time to inform decisions in key areas by bringing together evidence on the use of the technology concerned.The research reported in this monograph was funded as project number 01/32/01. The editors and publisher have tried to ensure the accuracy of this report but do not accept liability for damages or losses arising from material published in this report. ISSN 1366-5278 © Queen's Printer and Controller of HMSO 2003This monograph may be freely reproduced for the purposes of private research and study and may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising.Applications for commercial reproduction should be addressed to HMSO,The Copyright Unit, St Clements House, 2-16 Colegate, Norwich, NR3 1BQ.Published by Gray Publishing, Tunbridge Wells, Kent, on behalf of NCCHTA. Printed on acid-free paper in the UK by St Edmundsbury Press Ltd, Bury St Edmunds, Suffolk. Criteria for inclusion in the HTA monograph seriesRep...

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Section: Discussionmentioning

confidence: 99%

Section: Findings Of the Fxs Modelmentioning

confidence: 99%

“…2 In the existing models of screening for FXS, the accuracy of testing the number of CGG repeats has been assumed to be 100%. 7,8 …”

Section: Combination Of Pcr and Selective Southern Blottingmentioning

confidence: 99%

Section: A Model Of Prenatal Preconceptual and School Screening In Tmentioning

confidence: 99%

Section: A Simulation Modelling Of Cascade Testing In the Netherlandsmentioning

confidence: 99%

See 3 more Smart Citations

Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

101

View full text Add to dashboard Cite

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“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women

Archibald

Jaques

Wake

et al. 2009

American J of Med Genetics Pt A

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Population carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile Xassociated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to nonpregnant women. A qualitative approach was used to gain an in-depth understanding of women's experiences and examine their decision-making processes, including women who were tested and those who decided not to be tested. The decisionmaking process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision -making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non-pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions.

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“It's about having the choice”: Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome

Archibald

Hickerton

Jaques

et al. 2012

American J of Med Genetics Pt A

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This project explored, the views of key stakeholders regarding population-based genetic carrier screening for fragile X syndrome (FXS). Interviews and focus groups were conducted with healthcare providers, relatives of individuals with FXS and members of the general population. Data were transcribed verbatim and coded into themes. 188 individuals took part in this study. Perceived benefits of carrier screening included: learning the risk of having a child with FXS; learning the risk of fragile X-associated primary ovarian insufficiency; and the opportunity for carriers to access reproductive options. Concerns included: the emotional impact of screening and receiving a carrier result; the predictive testing nature of the carrier test with respect to fragile X-associated tremor/ataxia syndrome; potential confusion created by receiving an intermediate result; and implications of genetic screening for society. Overall, population-based genetic carrier screening was perceived to be acceptable provided it is optional and offered at an appropriate stage of life. With the support of the participants to promote individual choice by offering a population-based carrier screening program for FXS, it is essential to carefully consider how screening might be offered in order to ensure broad accessibility and facilitation of decision-making.

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Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population

Cited by 28 publications

References 28 publications

Screening for fragile X syndrome: a literature review and modelling study

Screening for fragile X syndrome: a literature review and modelling study

“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women

“It's about having the choice”: Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome

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