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Updated: Sep 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Personalized preventive medicine using genomic information: future perspective and corresponding research plan
Hiroto Narimatsu1,2,3,4, Kaname Watanabe1,2,4, Ann Sato1,3
1Department of Genetic Medicine, Kanagawa Cancer Center, Yokohama, Japan.
This study explores personalized cancer screening using genomic panels to identify high-risk individuals. It adapts hereditary cancer counseling for preventive medicine, aiming to improve early detection and cancer prevention strategies.
Area of Science:
- Genomic Medicine
- Preventive Oncology
- Genetic Epidemiology
Background:
- Personalized cancer screening using genomic information shows promise for effective cancer prevention.
- Current methods face challenges like low individual risk from most genetic variants and limited genetic counseling experience for healthy populations.
Purpose of the Study:
- To conduct a feasibility study for personalized cancer screening using a germline cancer genomic panel.
- To adapt hereditary cancer counseling practices for preventive medicine settings.
- To establish a framework for identifying individuals at high risk for hereditary cancers.
Main Methods:
- Utilizing a germline cancer genomic panel (30-80 high-risk genes, e.g., BRCA1, BRCA2) to detect pathogenic variants.
- Providing genetic counseling by certified medical doctors and genetic counselors.
- Leveraging the Kanagawa Prospective "ME-BYO" Cohort Study infrastructure.
Main Results:
- The study is initiating a feasibility assessment.
- It aims to address counseling differences between clinical and preventive contexts.
- The goal is to inform future guidelines for hereditary cancer risk identification.
Conclusions:
- This research bridges genomic research and preventive medicine.
- It lays the groundwork for personalized cancer screening strategies based on genetic data.
- The initiative contributes to advancing early detection and risk stratification for hereditary cancers.
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