Ethical and practical considerations for the reporting of secondary findings from genetic research in the elderly for the ASPREE study
| Pros | Cons |
|---|---|
| Ethical responsibility—not ethically defensible to withhold actionable medical information, consistent with ACMG and other guidelines | Ethical dilemma—decisions required by researchers on what to report, when and how |
| Autonomy—respect, the ‘right to know’, avoids paternalism, consistent with ASPREE consent | Anxiety—possible stress and confusion for research participants, families and researchers; family members were not consented to receive findings |
| Individual health benefit—clinical intervention could potentially prevent disease in individuals and their families | Is there genuine health benefit?—to those already severely ill, elderly or in cognitive decline, in obvious cases of incomplete penetrance |
| Health economics—earlier interventions, increased screening, overall cost savings; genetic counselling supported by Australian healthcare system | Resource burden—variant curation, interpretation, validation, clinical review, genetic counselling, insurance implications |
| Scientific—helps the study of penetrance, pathogenicity and clinical actionability in different contexts | Ambiguity—variant pathogenicity, path of clinical intervention can be uncertain, dealing with incomplete penetrance |
ACMG, American College of Medical Genetics; ASPREE, ASPirin in Reducing Events in the Elderly.