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Updated: Feb 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Personal Genomic Testing, Genetic Inheritance, and Uncertainty
1School of Social Sciences, Monash University, Clayton, Australia. paul.mason@sydney.edu.au.
Abstract:
The case outlined below is the basis for the In That Case section of the "Ethics and Epistemology of Big Data" symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data about ancestry and worrying but ambiguous data about the potential risk of developing Alzheimer's disease. What began as a personal curiosity about genetic inheritance turns into an alarming situation of medical uncertainty. Questions about Jordan's family tree are overshadowed by even more questions about Alzheimer's disease and healthy ageing. As a parent, Jordan is unsure whether to share these results and what it would mean for their children to learn about their genetic inheritance and potential future health. Furthermore, Jordan is unsure how to make sense of these reports in light of current knowledge of the risk factors for Alzheimer's disease and in the absence of effective treatments or robust preventative guidelines.
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