特集名 | 遺伝性大腸疾患の最近の話題 | |
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題名 | 遺伝性大腸癌の遺伝カウンセリングの実際 (1) 医師の立場から | |
発刊年月 | 2008年 08月 | |
著者 | 新井 正美 | 癌研有明病院遺伝子診療センター |
【 要旨 】 | 家族性腫瘍は家族集積性を示す腫瘍性疾患およびその可能性が高いと判断される状態であり,単一遺伝子性疾患と多因子性癌素因からなる.現在,診療の場で,遺伝性大腸癌として扱われるのはもっぱら前者である.遺伝性大腸癌の遺伝カウンセリングでは,癌の遺伝に関する適切な情報提供と,癌のハイリスク者に対する医療対応のマネジメントが重要である.遺伝子検査は遺伝カウンセリングの過程で行われ,その実施後の心理社会的支援を含めたハイリスク者の生涯にわたるケアが必要である.血縁者の遺伝情報の共有や検診の受診勧奨は時間を要する場合が多く,定期的ながん検診には検査費用の問題もある.がんの遺伝カウンセリングの役割として,今後は診療に用いられる遺伝子情報をわかりやすく提供する窓口としての機能も期待される. |
Theme | Recent Topics of Hereditary Colorectal Disease | |
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Title | Genetic Counseling on Hereditary Colorectal Cancer Syndromes | |
Author | Masami Arai | Clinical Genetic Oncology, Cancer Institute Hospital |
[ Summary ] | Familial cancers are defined as syndromes clustering cancers in a pedigree and encompass monogenic disorders and multifactorial conditions. Clinically, monogenic disorders are now treated as hereditary colorectal cancers, such as Lynch syndrome and familial adenomatous polyposis. It is essential to provide appropriate information about cancer inheritance and genome alterations and to make provisions for susceptibility to colorectal and other cancers in genetic counseling for hereditary colorectal cancer syndromes. Genetic testing should be performed in the process of genetic counseling. It is also important that patients and at-risk relatives can receive medical consultation, including psychosocial support, throughout their lives. In many cases, considerable time is required for the sharing of genetic information among relatives and for recommending other family members to receive medical checkups. Whether the process goes well or not depends on the relations among the individuals concerned. Furthermore, medical insurance does not cover medical surveillance for mutation carriers. It is thus difficult to maintain compliance with regular medical examinations. Jobs on cancer in genetic counseling has been expanding in the United States. Genetic counseling can also be the source of genome information such as personal sensitivities or side effects to anticancer drugs. |