Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling

Mika Okazawa-Sakai; Yasuko Yamamoto; Mashu Futagawa; Miki Okamura; Satoko Miyawaki; Tomohiro Nishina; Kazuhiro Takehara; Toshiyuki Kozuki; Shuta Tomida; Ichinosuke Hyodo; Shozo Ohsumi; Akira Hirasawa

doi:10.18926/AMO/64117

Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling

Mika Okazawa-Sakai, Yasuko Yamamoto, Mashu Futagawa, Miki Okamura, Satoko Miyawaki, Tomohiro Nishina, Kazuhiro Takehara, Toshiyuki Kozuki, Shuta Tomida, Ichinosuke Hyodo, Shozo Ohsumi, Akira Hirasawa

University Hospital

Research output: Contribution to journal › Article › peer-review

Abstract

Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.

Original language	English
Pages (from-to)	673-678
Number of pages	6
Journal	Acta medica Okayama
Volume	76
Issue number	6
DOIs	https://doi.org/10.18926/AMO/64117
Publication status	Published - Dec 1 2022

Keywords

comprehensive genomic profiling
genetic counseling
germline findings
hereditary cancer
presumed germline pathogenic variant(s)

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.18926/AMO/64117

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title = "Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling",

abstract = "Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.",

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AU - Okazawa-Sakai, Mika

AU - Yamamoto, Yasuko

AU - Futagawa, Mashu

AU - Okamura, Miki

AU - Miyawaki, Satoko

AU - Nishina, Tomohiro

AU - Takehara, Kazuhiro

AU - Kozuki, Toshiyuki

AU - Tomida, Shuta

AU - Hyodo, Ichinosuke

AU - Ohsumi, Shozo

AU - Hirasawa, Akira

PY - 2022/12/1

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N2 - Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.

AB - Patients found to have presumed germline pathogenic variants (PGPVs) during comprehensive genomic profiling (CGP) require genetic counseling (GC) referrals. We retrospectively investigated the outcomes of patients with PGPVs. Among 159 patients who underwent CGP, we recommended GC for the 16 patients with PGPVs (3 with [FG group] and 13 without [G Group] a family/personal history of hereditary cancer) as well as for the 8 patients with no PGPVs, but a history (F group); 2 (67%), 5 (38%), and 3 (38%) patients received GC in the FG, G, and F groups, respectively. Germline testing results were positive in 1 and 2 patients of the FG and G groups, respectively. Among the patients recommended for GC, 58% did not receive GC due to lack of interest, poor performance status, or death. CGP contributes to the identification of germline variants in patients without a history of hereditary cancer. However, the proportion of patients who undergo GC should be improved.

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Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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