Table 4

Ethical and practical considerations for the reporting of secondary findings from genetic research in the elderly for the ASPREE study

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.