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Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive
Massimiliano Chetta1, Marina Tarsitano1, Nenad Bukvic2
1A.O.R.N. A. Cardarelli Hospital's Laboratory of Medical Genetics and Genomics, 80131 Naples, Italy.
Journal of Personalized Medicine
|August 27, 2025
Summary
Genomic medicine, using technologies like Whole Exome Sequencing (WES), shifts from certainty to probability. Embracing biological uncertainty is key for precision medicine to succeed.
Area of Science:
- Genomic Medicine
- Clinical Genomics
- Precision Medicine
Background:
- The genomic era has revolutionized medical understanding, moving from Mendelian to polygenic complexity.
- Genomic technologies like Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) challenge traditional views of causality and identity.
- Precision medicine's growth introduces challenges like data fragmentation, interpretative opacity, and ethical issues with Variants of Uncertain Significance (VUSs).
Purpose of the Study:
- To explore the epistemological and ethical implications of genomic advancements in clinical practice.
- To address the tensions arising from the promise and challenges of precision medicine.
- To propose a more flexible and morally sensitive paradigm for genomic medicine.
Main Methods:
- Analysis of the impact of Next-Generation Sequencing (NGS) on diagnostic yield.
- Examination of the challenges posed by Variants of Uncertain Significance (VUSs) and secondary findings.
- Review of the influence of genomic knowledge on concepts of autonomy, risk, and personhood.
Main Results:
- The diagnostic yield of Next-Generation Sequencing (NGS) is inconsistent due to complex gene-environment interactions and classification system limitations.
- Variants of Uncertain Significance (VUSs) create diagnostic and clinical uncertainty.
- Secondary findings raise ethical concerns regarding consent, privacy, and responsibility, impacting both adult and pediatric care.
Conclusions:
- Genomic medicine requires a flexible, morally sensitive approach that acknowledges ambiguity.
- Open infrastructures, dynamic variant reclassification, and interdisciplinary humanistic approaches are crucial.
- Accepting biological uncertainty is vital for precision medicine to become a nuanced dialogue between genes, environment, and experience.
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