Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Abstract

Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as Familial Hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a person's life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be responsible for contacting his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method of contact already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria which, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives.

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

“…Gauging index patients' preferences about the method of familial cascading is important given the continuing debate about whether clinicians should contact family members directly to disclose genetic information and inform them about the opportunity for predictive testing (Offit et al 2004;Newson and Humphries 2005). 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). The ethico-legal debate about disclosure of genetic information by clinicians frequently focuses upon breaches of confidentiality and patients' right to privacy versus family members' right to know genetic information about themselves and be informed about testing/treatment option (Newson and Humphries 2005;Leonard and Newson 2010;Skene and Forrest 2010). This study, like that reported by Horstman and Smand (2008), suggests that index patients may be less worried about their own and/or relatives' privacy than ensuring that their relatives are not made unduly anxious by unsolicited approaches from the clinical team.…”

“…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). These observations suggest more systematic research is needed to compare index patients' and family members' experiences of the different methods of familial cascading employed in this and other studies, as well as the (cost-) effectiveness of each approach.…”

“…mediated by patients who pass on personalised clinic letters/information) raises a number of ethical dilemmas, for example, "maximising the utility of cascade screening" versus respecting probands' and relatives' privacy and preventing bodily harm in relatives versus causing psychological harm by undermining relatives' right to not know information (Newson and Humphries 2005 p. 402). Newson and Humphries (2005) argue that while direct approaches to FH cascading can be defended on ethical grounds, in practice, it would be advisable to involve the proband in the process if possible.…”

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

“…8,9 There has been some discussion on how to cascade information about genetic health risks to the relatives of patients with familial hyper-cholesterolaemia, including the active contacting of relatives directly by professionals, although this depends entirely upon information provided by the proband. 10 With genetic diseases increasingly treatable and preventable, some recommend a more proactive role of genetic professionals. 11,12 A potential obstacle to professional encouragement of family communication may be too great a respect for the principle of nondirectiveness, when understood as the rather unhelpful notion of simply having to give the patient what they ask for.…”