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Background <p>Comprehensive genomic profiling (CGP) is widely performed worldwide, increasing opportunities for medical oncologists to explain cancer predisposition at the time of informed consent and return of results. How medical oncologists communicate about (suspected) cancer predisposition genes is a key factor in referring patients for consultation with genetic services. In this study, we developed a set of fact sheets on cancer predisposition genes to support medical oncologists in their practice under the nationwide cancer genome screening project MONSTAR-SCREEN-2 study in Japan.</p> Methods <p>The Genetic Specialist Committee, comprising clinical geneticists, genetic counselors, bioinformaticians, and medical oncologists, drafted the fact sheet and external Genetic Experts reviewed its elements and contents. A fact sheet evaluation survey was conducted one year after the fact sheet was completed and distributed to medical oncologists at the National Cancer Center Hospital East.</p> Results <p>The content of the fact sheet included an overview of diseases, inheritance, family impact, lifetime risk, and surveillance. In the evaluation survey, 83.3% of respondents rated it as “useful.” Notably, the sections “What is genetic counseling” (100%) and “Lifetime risk” (94.4%) received high ratings.</p> Conclusion <p>Our study suggests that a fact sheet developed by the Genetic Specialist Committee may help medical oncologists explain CGP results and connect patients to genetic services. It also functions as an educational resource that requires periodic updates and is in line with revisions to the guidelines.</p>

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Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月4日

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  • Manami Matsukawa,
  • Chikako Tomozawa,
  • Yoshiaki Nakamura,
  • Takao Fujisawa,
  • Kaori Kimura,
  • Yumie Hiraoka,
  • Riu Yamashita,
  • Shinji Kosugi,
  • Akihiro Sakurai,
  • Issei Imoto,
  • Masakazu Nishigaki,
  • Makoto Hirata,
  • Takeshi Kuwata,
  • Takayuki Yoshino

摘要

Background

Comprehensive genomic profiling (CGP) is widely performed worldwide, increasing opportunities for medical oncologists to explain cancer predisposition at the time of informed consent and return of results. How medical oncologists communicate about (suspected) cancer predisposition genes is a key factor in referring patients for consultation with genetic services. In this study, we developed a set of fact sheets on cancer predisposition genes to support medical oncologists in their practice under the nationwide cancer genome screening project MONSTAR-SCREEN-2 study in Japan.

Methods

The Genetic Specialist Committee, comprising clinical geneticists, genetic counselors, bioinformaticians, and medical oncologists, drafted the fact sheet and external Genetic Experts reviewed its elements and contents. A fact sheet evaluation survey was conducted one year after the fact sheet was completed and distributed to medical oncologists at the National Cancer Center Hospital East.

Results

The content of the fact sheet included an overview of diseases, inheritance, family impact, lifetime risk, and surveillance. In the evaluation survey, 83.3% of respondents rated it as “useful.” Notably, the sections “What is genetic counseling” (100%) and “Lifetime risk” (94.4%) received high ratings.

Conclusion

Our study suggests that a fact sheet developed by the Genetic Specialist Committee may help medical oncologists explain CGP results and connect patients to genetic services. It also functions as an educational resource that requires periodic updates and is in line with revisions to the guidelines.