A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation

Abstract

Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.

Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: “Just another straw on the stack”

“…The offer of an immediate option to manage their prostate cancer risk, albeit with an emerging evidence base, put most men at ease during recontact and led to low cancer stress several months afterward. Consistent with previous research, these results suggest that recontact is justified and acceptable to patients if the information is actionable or bears personal relevance (Carrieri et al,; Dheensa et al, ; Griffin et al, ; Otten et al, ). For participants in this study, recontact, including the option to engage in research‐based PSA screening, represented a course of action with personal relevance.…”

Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights

“…When assessing the issue of whose duty it is to recontact, it is important to consider that patients generally do not consider themselves as being solely responsible for recontacting, and instead many patients report the genetics service provider to be responsible (Beunders et al, ; Otten et al, ). At the very least, empirical studies to date have shown patients and healthcare providers to value a “joint venture model” in which the responsibility of recontact is shared (Dheensa et al, ). This means healthcare providers should understand that their patients view them as partially responsible for recontacting.…”

“…This is a pressing dilemma for genetic counselors, who are trained to analyze new testing information to determine if patients would benefit from additional or expanded genetic testing options. It is arguable that a legal duty of care for a patient might lapse once a patient has been discharged from their service (Dheensa et al, ), making genetic counselors less responsible for a duty to recontact compared to primary care providers who typically have established patient–provider relationships. Nevertheless, genetic counselors are interested in providing quality patient care which may include offering updated genetic testing, especially if it has implications for clinical management.…”

“…Currently, no legislation or court decision to date imposes a legal duty to recontact patients to update genetics recommendations (Otten et al, ; Stevens, Senner, & Marchant, ). However, it is important to note that most patients desire recontact and deem the genetic service provider as having a responsibility to recontact patients (Dheensa et al, ; Griffin et al, ). In addition, genetic testing presents a unique circumstance since it is unlike most other medical tests because a patient's DNA sequence is essentially static.…”

Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty

“…Questions regarding equitable recontact practices as well as the justification of resources for the purpose of recontact are raised when applying the bioethics principle of justice. Also pertinent to justice is concern that shifting the responsibility to patients for recontact has the potential to exacerbate differential care for some patient populations (Dheensa et al, ). Our study revealed that the vast majority of respondents feel that to varying degrees, patients are responsible for ensuring that they remain informed regarding updates to genetic testing.…”