Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project

Hadfield, S G; Horara, S.; Starr, B J; Yazdgerdi, Susan R.; Marks, Dalya; Bhatnagar, Deepak; Cramb, Robert; Egan, Sarah J.; Everdell, R.; Ferns, G.; Jones, Alan; Marenah, C B; Marples, J; Prinsloo, Peter; Sneyd, A; Stewart, M F; Sandle, L. N.; Wang, T.; Watson, Mark; Humphries, Steve E.

doi:10.1258/acb.2008.008094

Cited by 73 publications

(61 citation statements)

References 27 publications

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“…Direct FH cascading screening has recently been trialled in the UK (Hadfield et al 2009); in line with findings from an earlier review of the Dutch FH programme (UmansEckenhausen et al 2001), it was found that systematic family tracing by trained personnel plus direct clinical contact results in significantly more relatives coming forward for cholesterol screening (Hadfield et al 2009). Direct approaches have also been supported on the grounds that they may help overcome patients' reticence to disclose/ distribute information (Suthers et al 2006) and thus maximise the number of relatives approached and captured in the cascade.…”

Section: Introductionmentioning

confidence: 66%

“…Empirical research suggests that direct contact by a member of the clinical team maximises the numbers of family members coming forward for FH screening (Umans-Eckenhausen et al 2001;Hadfield et al 2009); however, it also raises ethical issues. For example, an earlier Dutch study of FH cascading reported that 20% of family members approached reported feeling under pressure to have DNA testing following direct clinical contact (van Maarle et al 2001).…”

Section: Discussionmentioning

confidence: 99%

“…However, it must be noted that the advantages of employing an indirect approach may be offset by reduced uptake of screening amongst relatives (Umans-Eckenhausen et al 2001;Hadfield et al 2009). A compromise position might, therefore, be to encourage index patients to contact family members in the first instance, thereby allowing them to discharge their familial obligations and then follow this up, if required, by direct contact from a healthcare worker (Newson and Humphries 2005).…”

Section: Policy and Practice Implicationsmentioning

confidence: 99%

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Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

et al. 2011

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Familial DNA cascade screening for familial hypercholesterolemia (FH) has recently been introduced in Scotland. This study investigated index patients' experiences of DNA testing and mediating cascade screening. Thirty-eight patients with a clinical diagnosis of definite or possible FH who had undergone DNA testing in the lipid clinic took part in semi-structured qualitative interviews.All patients were positive about DNA screening being undertaken by familiar and trusted clinicians within the lipid clinic. Most patients had already cascaded close relatives for serum cholesterol testing following their attendance at the lipid clinic. Identified mutation carriers who had attended the genetics clinic (n=15) for a cascading appointment described finding this consultation helpful because it identified other at-risk family members and provided them with tailored information for their relatives. Participants who expressed a preference said they favoured indirect (patient-mediated) methods of cascading as they considered indirect approaches to be less threatening to family members than direct clinical contact. We conclude that DNA screening and indirect familial cascading is perceived as highly acceptable to index patients with FH.

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Section: Introductionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Section: Policy and Practice Implicationsmentioning

confidence: 99%

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Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

et al. 2011

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“…Family members who consent to being assessed for FH should be offered a standard plasma lipid profile and a genetic test if the family mutation is known and DNA testing available [6,8,78,80]. All individuals with potential FH should be made aware and understand the implications of genetic testing for certain types of insurance cover [8,81].…”

Section: Contacting and Informing Familiesmentioning

confidence: 99%

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts

Gidding

Wierzbicki

et al. 2014

International Journal of Cardiology

329

200

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“…Using targeted gene sequencing, the observed detection rate of FH in relatives ranged from 53% to 56% in two studies, 37,45 which is broadly consistent with rates reported by others (37-56%; see Appendix 18). 11,19,67,[83][84][85] A study by Wiegman and colleagues 50 reported that a high detection rate (77%) in children from families in whom a mutation was identified in probands was observed through targeted sequencing. However, the authors of the study suggested that one possible reason for the high detection rate was that siblings with very low LDL-C levels were not taken to the clinic to undergo targeted sequencing.…”

Section: Cascade Testingmentioning

confidence: 99%

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

Sharma

Boyers²,

Boachie³

et al. 2012

Health Technol Assess

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Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project

Cited by 73 publications

References 27 publications

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

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