Inherited High Cholesterol is treatable, but highly underdiagnosed. To detect undiagnosed blood relatives at a presymptomatic stage, in the Netherlands written information packages are available to facilitate family communication. To investigate the role of those packages in the detection of carriers, we conducted a qualitative evaluation (plus-minus method combined with semistructured interviews with index patients and relatives). Our data suggest that interviewees approved the family approach for finding carriers, although reluctantly. The packages aided family disclosure by reducing hesitation. However, index patients only informed first-degree relatives and generally communicated the risk only once. This may be due to the cultural context and a limited understanding of genetics. For relatives the packages served as a cue to action and as a legitimation to gain access to a diagnostic cholesterol test. Despite the value of these written materials, they should not be used as the only communication between index patient and relatives.
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ACKNOWLEDGMENTS
The study presented was performed at the Care and public health research institute (Caphri), which participates in the Netherlands School of Primary Care Research (CaRe), acknowledged in 1995 by the Royal Dutch Academy of Science (KNAW). The present study was part of a research project funded by the Netherlands Organization for Health Research and Development (ZonMw, project number 22000092) and the Bloodlink Foundation. We owe many thanks to the respondents.
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van den Nieuwenhoff, H.W.P., Mesters, I., Nellissen, J.J.T.M. et al. The Importance of Written Information Packages in Support of Case-Finding Within Families at Risk for Inherited High Cholesterol. J Genet Counsel 15, 29–40 (2006). https://doi.org/10.1007/s10897-005-9001-8
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DOI: https://doi.org/10.1007/s10897-005-9001-8