［総論］がんゲノム医療時代における遺伝性腫瘍の遺伝子診断やカウンセリング

Genetic diagnosis and counseling for hereditary tumors in the era of cancer genomic medicine

要旨

　近年の遺伝子解析技術の進歩に伴い，日常診療においてがんのゲノム情報にもとづいて治療を行うがんゲノム医療が普及している。その過程で二次的に遺伝性腫瘍の可能性が指摘されることが増えている。そのため遺伝の専門家だけでなく，多くの医療従事者も遺伝性腫瘍に対応できる基礎知識をもつ必要性が高まっている。遺伝性腫瘍は医療介入の効果が高い疾患であり，家系情報やゲノム情報にもとづく将来予測が可能である。遺伝カウンセリングを通じて，患者や血縁者にがんリスクの軽減や精神的・身体的活動の質の向上をはかる医療が求められる。

　With recent advances in genetic analysis technology, cancer genomic medicine is becoming more common part of daily medical practice. In that process, there has been a growing number of cases where hereditary cancer syndromes are incidentally identified. As a result, it has become increasingly important not only for genetic specialists but also for many healthcare professionals to possess basic knowledge to address hereditary cancers. Hereditary tumors are conditions that respond well to medical intervention, and future predictions can be made based on family and genomic information. Through genetic counseling, it is essential to provide care that aims to reduce cancer risks and improve the quality of physical and psychological well-being for patients and their relatives.