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Healthcare 2018, 6(3), 108; https://doi.org/10.3390/healthcare6030108

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

1
Department of Clinical Genetics and APH Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 GT Amsterdam, The Netherlands
2
Department of Public Health and Infectious Diseases, Sapienza University of Rome, 00185 Rome, Italy
3
MTA-DE Public Health Research Group of the Hungarian Academy of Sciences, Faculty of Public Health, University of Debrecen, 4028 Debrecen, Hungary
4
Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, 4028 Debrecen, Hungary
*
Author to whom correspondence should be addressed.
Received: 11 July 2018 / Revised: 22 August 2018 / Accepted: 27 August 2018 / Published: 31 August 2018
(This article belongs to the Special Issue Precision Public Health and Genomic Medicine)
Full-Text   |   PDF [448 KB, uploaded 31 August 2018]   |  

Abstract

In familial hypercholesterolemia (FH), carriers profit from presymptomatic diagnosis and early treatment. Due to the autosomal dominant pattern of inheritance, first degree relatives of patients are at 50% risk. A program to identify healthy relatives at risk of premature cardiovascular problems, funded by the Netherlands government until 2014, raised questions on privacy and autonomy in view of the chosen active approach of family members. Several countries are building cascade screening programs inspired by Dutch experience, but meanwhile, the Netherlands’ screening program itself is in transition. Insight in stakeholders’ views on approaching family members is lacking. Literature and policy documents were studied, and stakeholders were interviewed on pros and cons of actively approaching healthy relatives. Sociotechnical analysis explored new roles and responsibilities, with uptake, privacy, autonomy, psychological burden, resources, and awareness as relevant themes. Stakeholders agree on the importance of early diagnosis and informing the family. Dutch healthcare typically focuses on cure, rather than prevention. Barriers to cascade screening are paying an own financial contribution, limited resources for informing relatives, and privacy regulation. To benefit from predictive, personalized, and preventive medicine, the roles and responsibilities of stakeholders in genetic testing as a preventive strategy, and informing family members, need to be carefully realigned. View Full-Text
Keywords: familial hypercholesterolemia; cascade screening; sociotechnical analysis; stakeholder analysis; personalized prevention familial hypercholesterolemia; cascade screening; sociotechnical analysis; stakeholder analysis; personalized prevention
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van El, C.G.; Baccolini, V.; Piko, P.; Cornel, M.C. Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia. Healthcare 2018, 6, 108.

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