Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening

Abstract

Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to realizing the promise of precision medicine. We conducted a qualitative study to design a patient- and family-centered program for direct contact of relatives to recommend cascade genetic testing. We conducted two rounds of data collection using focus groups followed by individual interviews with patients with HBOC or Lynch syndrome and a separate sample of people with a family history of hereditary cancers. Results indicate that U.S.-based health system-led direct contact of relatives is acceptable to patients and families, should take a programmatic approach, include consent of relatives before proband testing, complement to existing patient-mediated disclosure, and allow for relative control of information. Our findings suggest a set of requirements for U.S.-based direct contact programs that could ultimately benefit more relatives than current approaches.

A Focus Group Study of Perceptions of Genetic Risk Disclosure in Members of the Public in Sweden: “I’ll Phone the Five Closest Ones, but What Happens to the Other Ten?”

“…The question was not about selecting one or the other mode of disclosure as the optimal approach but rather using a mix of both family-mediated and healthcare-mediated disclosure efforts, preferably with healthcare taking the main responsibility. Wishes for more active collaboration with HCPs has been reported in studies of Canadian cancer patients [28], US patients with hereditary cancer [31] and in patients, relatives and the public in the Netherlands [27]. In our data several constellations and approaches were envisioned.…”

“…As a rule, our interviewees acknowledged the importance and urgency of sharing health-related genetic information among relatives who might benefit from such knowledge. However, they also identified several emotional and logistic challenges, such as geographical distances, lack of social contact and tense relations which have previously been described in patients and genetic counselees [31,36,43,47,48]. One way to understand the swell of negative emotions in these situations is that they are caused by conflicting duties.…”

“…Our research group has previously reported a strong public opinion in Sweden in favor of healthcare-mediated disclosure [29] but results from other counties support this as well. US respondents thought "direct contact should be a programmatic effort" [31], Australian patients thought that "information on screening should be disseminated through medical professionals" [52] and a recent Dutch systematic review on patient attitudes concluded that "actively offered support of healthcare professionals was desired" [36].…”

“…These findings revealed a dissonance between the services participants assume would be available from healthcare and the actual services offered today by clinical genetics in Sweden (Figure 1). This "missing link" has been the topic of an ongoing debate for years, if healthcare should adopt a more proactive strategy for cascade testing [6,31,47,52]. Until now, most studies on attitudes towards direct-contact approaches have mainly focused on the perspective of patients or HCPs [53].…”

“…A growing body of research indicates that a large majority of people in general want to receive actionable genetic risk information, and the "right to know" is something most people feel strongly about [25][26][27][28]. Public attitudes towards cancer genetic testing are also very positive [29,30], and high acceptance for direct contact approaches where healthcare professionals (HCPs) approach eligible relatives has been reported in Denmark, Sweden, France and the US [29][30][31][32]. Factors associated with the desire to be informed of a genetic risk include the emotional relief when reducing uncertainty and the clinical usefulness of individual test results [25,28,33,34].…”