Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

Geelen, Els; Horstman, Klasien; Marcelis, Carlo; Doevendans, Pieter A.; Hoyweghen, Ine Van

doi:10.1038/ejhg.2012.53

Cited by 35 publications

(26 citation statements)

References 29 publications

(35 reference statements)

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“…It is unclear if genetic discrimination of MODY patients actually occurs; no cases have been reported so far. It is known that fear of genetic discrimination is a common phenomenon in genetic testing, but often unfounded [29]. …”

Section: Discussionmentioning

confidence: 99%

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Zwaag

Weinreich

Bosma

et al. 2014

Public Health Genomics

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Aims: Currently, many patients with maturity onset diabetes of the young (MODY) are undiagnosed or misdiagnosed with type 1 or 2 diabetes. This study aims to assess professional experts' views on factors which may influence the current practice of genetic testing for MODY and to explore next steps toward best practice. Methods: Twelve semistructured interviews were conducted with professional experts. These experts included physicians with potential or actual experience with genetic testing for MODY, representatives of (para)medical professional associations and a staff member of a diabetes patients' organization. Results: Participants differed in their valuation of genetic testing for MODY. While most considered the test useful, not all were convinced of its clinical utility. Other factors mentioned to influence current practice were: (perceived lack of) possibilities for treatment and prevention, patients' perspectives and perceived barriers, such as costs and a lack of knowledge and awareness. Participants agreed that guidelines would be helpful to facilitate expedient testing. Conclusions: This study identified next steps that should be taken to improve genetic diagnosis and care for patients with MODY. Besides the development of a consensus guideline, other suggestions included more education of healthcare professionals, a clearer allocation of responsibilities with regard to genetic testing for MODY and further research.

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Section: Discussionmentioning

confidence: 99%

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Zwaag

Weinreich

Bosma

et al. 2014

Public Health Genomics

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“…20 These must be fully weighed during design and pilot phases, and managed and re-evaluated within any implemented program. Genetic information is often regarded as having special status.…”

Section: The Use Of Genetic Informationmentioning

confidence: 99%

Incorporating genomics into breast and prostate cancer screening: assessing the implications

Chowdhury

Dent

Pashayan

et al. 2013

Genetics in Medicine

107

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Individual risk prediction and stratification based on polygenic profiling may be useful in disease prevention. Risk-stratified population screening based on multiple factors including a polygenic risk profile has the potential to be more efficient than age-stratified screening. In this article, we summarize the implications of personalized screening for breast and prostate cancers. We report the opinions of multidisciplinary international experts who have explored the scientific, ethical, and logistical aspects of stratified screening. We have identified (i) the need to recognize the benefits and harms of personalized screening as compared with existing screening methods, (ii) that the use of genetic data highlights complex ethical issues including discrimination against high-risk individuals by insurers and employers and patient autonomy in relation to genetic testing of minors, (iii) the need for transparency and clear communication about risk scores, about harms and benefits, and about reasons for inclusion and exclusion from the risk-based screening process, and (iv) the need to develop new professional competences and to assess cost-effectiveness and acceptability of stratified screening programs before implementation. We conclude that health professionals and stakeholders need to consider the implications of incorporating genetic information in intervention strategies for health-care planning in the future.Genet Med 2013:15(6):423–432

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“…35 Moreover, a FG+/Ph− status may have psychological and socioeconomic implications. 38 Clearly, cardiogenetic counseling of relatives should include a balanced discussion of the advantages and potential disadvantages of genetic testing.…”

Section: Fg+/ph− Individualsmentioning

confidence: 99%

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation

Velzen

Schinkel

Oldenburg

et al. 2017

Circ Cardiovasc Genet

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Background— MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G−) HCM. Methods and Results— The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G− probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy. The clinical phenotype of FG+ and G+ probands with HCM was similar. FG+ and G+ probands were younger with less left ventricular outflow tract obstruction than G− probands, however, had more hypertrophy, and nonsustained ventricular tachycardia. FG+ relatives with HCM had less hypertrophy, smaller left atria, and less systolic and diastolic dysfunction than FG+ probands with HCM. After 8±6 years, cardiovascular mortality in FG+ probands with HCM was similar to G+ HCM (22% versus 14%; log-rank P =0.14), but higher than G− HCM (22% versus 6%; log-rank P <0.001) and FG+ relatives with HCM (22% versus 4%; P =0.009). Cardiac events were absent in FG+/phenotype-negative relatives; subtle HCM developed in 11% during 6 years of follow-up. Conclusions— Clinical phenotype and outcome of FG+ HCM was similar to G+ HCM but worse than G− HCM and FG+ HCM diagnosed in the context of family screening. These findings indicate the need for more intensive follow-up of FG+ and G+ HCM versus G− HCM and FG+ HCM in relatives.

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Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

Cited by 35 publications

References 29 publications

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

Incorporating genomics into breast and prostate cancer screening: assessing the implications

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation

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