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Updated: Nov 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Factors Influencing the Decision‒Making Process in Secondary Findings Disclosure in Next‒Generation Sequencing-A
Saki Shimada1, Takahiro Yamada, Shinji Kosugi
1Dept. of Medical Ethics/Medical Genetics, School of Public Health, Kyoto University Graduate School of Medicine.
Abstract:
With the increased availability of comprehensive genetic testing, the number of cases where secondary findings(SF)are identified has also increased. Since not only patients, but also healthcare professionals influence the decision‒making process in SF disclosure, understanding their attitude toward disclosure is vital. Therefore, a literature review using PubMed and Japan Medical Abstracts Society was conducted. We searched for original qualitative studies focusing on clinical genome analysis. Consequently, 12 articles that focus on 3 main stakeholders were identified: patients and/or their families, genetics professionals, and the general public. Relevant findings were synthesized and chronologically categorized into 27 subcategories, 11 categories, and 3 main themes, namely(1)"at the time of consent,"(2)"when results are returned,"and(3) "after the return of results."All categories in theme(3)were found in patients. Most subcategories found in the general public were also present in patients. The general public is unique because they considered receiving SF for the first time after participating in the study. The result suggests that people are aware of what might happen after receiving SF at the time of providing consent. This awareness will improve patient attitude toward receiving SF. Therefore, it is important to inform patients about the continuous support at the time of providing consent.
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