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Updated: Mar 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Pathogenic variants in the healthy elderly: unique ethical and practical challenges
Paul Lacaze1, Joanne Ryan1, Robyn Woods1
1Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, ASPREE - Monash University, Melbourne, Victoria, Australia.
Genetic research in healthy elderly individuals presents unique ethical challenges. This study explores managing and returning clinically actionable genetic variants to older adults, considering consent, disclosure, and family implications.
Area of Science:
- Gerontology
- Human Genetics
- Bioethics
Background:
- Genetic research into aging and late-onset diseases is growing.
- There's limited understanding of clinical actionability and returning pathogenic variants to healthy elderly individuals.
- Standard genetic research practices may not adequately address the unique needs of older populations.
Purpose of the Study:
- To overview ethical and practical challenges in genetic studies of healthy elderly individuals.
- To address issues concerning the interpretation, disclosure, and management of actionable genetic variants in the elderly.
- To propose a management plan for genetic research in the ASPREE Healthy Ageing Biobank cohort.
Main Methods:
- Analysis of ethical and practical challenges in a large cohort of healthy Australians aged 70+.
- Consideration of consent, interpretation, and disclosure of pathogenic variants.
- Examination of issues related to cognitive decline, terminal illness, and insurance implications.
Main Results:
- The ASPREE cohort offers a unique opportunity to study variant penetrance in asymptomatic elderly individuals.
- Significant ethical concerns arise regarding the return of clinically actionable genetic findings.
- Challenges include managing results for individuals with cognitive decline or terminal illness and addressing family implications.
Conclusions:
- Genetic research in healthy elderly populations requires tailored ethical and practical frameworks.
- Careful consideration must be given to the interpretation, disclosure, and management of actionable genetic variants.
- A defensible plan is needed to navigate the complexities of returning genetic results to the elderly and their families.
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