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Updated: Dec 22, 2025

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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[Required Human and System Resources for Genomic Medicine].
Eriko Aimono1, Hiroshi Nishihara1
1Division of Clinical Cancer Genomics, Keio University School of Medicine.
Summary
Precision cancer medicine uses multigene testing to guide therapy. A novel sequencing system, PleSSision, identified actionable gene alterations in 60% of over 600 cases, highlighting the critical role of genomic pharmacists.
Area of Science:
- Genomic Medicine
- Oncology
- Clinical Sequencing
Background:
- Genomic medicine advances enable precision cancer therapies via multigene testing.
- Clinical sequencing requires multidisciplinary expertise, including pathology, bioinformatics, and genetic counseling.
- Emerging targeted therapies for hereditary cancer syndromes necessitate enhanced collaboration.
Purpose of the Study:
- To introduce PleSSision, a novel clinical sequencing system for personalized cancer medicine.
- To highlight the importance of genomic pharmacists in the evolving landscape of cancer genomic medicine.
Main Methods:
- Development and application of PleSSision, a clinical sequencing system performing amplicon exome sequencing.
- Targeting 160 cancer genes for comprehensive genomic profiling.
- Analysis of over 600 clinical cases over a 3-year period.
Main Results:
- PleSSision identified druggable gene alterations in approximately 60% of the examined cases.
- Demonstrated the feasibility and utility of the PleSSision system in clinical practice.
- Underscored the need for specialized skills and knowledge in genomics across healthcare professionals.
Conclusions:
- Precision cancer medicine relies on advanced genomic profiling and multidisciplinary collaboration.
- Genomic pharmacists play an increasingly vital role in managing patients undergoing precision cancer therapies.
- The PleSSision system facilitates the identification of therapeutic targets, advancing personalized cancer care.
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