“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

Abstract

Whole genomic sequencing (WGS) promises significant personalized health benefits, and its increasingly low cost makes wide clinical use inevitable. However, a core challenge is "incidental findings" (IF). Using focus groups, we explored attitudes about the disclosure of IF in clinical settings from three perspectives: Genetics health-care professionals, the general public, and parents whose children have experienced genetic testing. Analysis was based on a framework approach. All three groups considered practical and ethical considerations. There was consensus that IF presented challenges for disclosure and a pre-test patient-clinician discussion was vital for clarification and agreement. The professionals favored targeted analysis to limit data handling and focus pre-test discussions on medical relevance. Their perspective highlighted ethical concepts of justice and beneficence. The lay groups' standpoint emphasized autonomy and patients' rights to choose what findings they receive, and that patients accept the consequences of any potential anxiety and uncertainty. The lay groups also felt that it was their responsibility to check genomic developments over time with their original test results and saw patient responsibility as an important part of patient choice.

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

“…Most professionals considered recontacting to be desirable and the shared responsibility of professionals and patients. Only Townsend et al 49 reported on the duty to recontact in light of WGS; patients' and professionals' opinions were in accordance with the other empirical articles.…”

“…20 The more recent literature relatively more often raised ethical arguments against a duty to recontact, thereby emphasizing respect for patient autonomy, which is thought to become even more important in light of WGS. 49,54 Hunter et al 15 stated that there is a greater justification for recontacting former patients with definite, significant information about a life-threatening disease than for a small increased risk for a slowly progressive disease. They also noted that information may affect people differently, and therefore recontacting might be beneficial for some, whereas it might be harmful to others.…”

“…9,30 The other six articles presented data from surveys and focus groups about the implementation of recontacting from the perspective of both counselors and patients. 12,14,25,28,49,59 These studies described opinions on recontacting as part of standard care; possible benefits, burdens and methods; and professional opinions about using genetic registries for recontacting patients. These data showed that opinions of professionals and patients generally differed on who is responsible for recontacting and on the ethical principles of recontacting.…”

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing

“…Participants in our focus group study, which explored lay and patient attitudes about WGS IF clinical disclosure, strongly supported the right to say no to disclosure. 5 Following Andorno 3 we maintain that the right not to know must be offered but cannot be presumed, and must be 'activated' by a person's explicit choice. Also, it is not an absolute right; it may be restricted when disclosure relates to serious harm to third persons (p 435).…”

Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not

“…[12][13][14][15][16] Options suggested range from full disclosure of all results to disclosing only those with known clinical significance, and/or which have an intervention that can prevent, treat, or mitigate disease. What our examples highlight is that it may be extremely difficult to withhold details of IFs, even if a conclusion is that they are not clinically significant, because further investigations of the patient, and their relatives, may be required to come to this conclusion.…”