講演情報
[P17-3]網羅的遺伝学的検査を受けた未診断児の親は何を経験したか？：システマティックレビュー
○高塚 美衣1, 稲葉 慧2, 中川 奈保子2, 和田 敬仁2,3, 小杉 眞司1,2 (1.京都大学大学院 医学研究科 社会健康医学系専攻 医療倫理学・遺伝医療学分野, 2.京都大学医学部附属病院 遺伝子診療部, 3.京都大学大学院 医学研究科 ゲノム医療学講座)
Background: Children with rare and undiagnosed diseases and their families often spend many years undiagnosed by numerous medical centers, with no diagnosis, no known cause and no treatment options. In recent years, in order to put an end to such diagnostic odysseys, large-scale projects are underway in many countries. In Japan, the Initiative for Rare and Undiagnosed Diseases (IRUD) was launched in 2015, but there are few studies on the personal utility/non-utility experienced by parents of children who have actually undergone comprehensive genetic testing (CGT). Therefore, we conducted a systematic review with the aim of systematically evaluating the experiences of parents of children with rare and undiagnosed diseases who have undergone CGT.
Methods: A search was conducted using MEDLINE (PubMed), Cochrane Library and the medical journal web, restricted to original articles. The articles obtained were carefully read and those that did not match the objectives of this study were excluded.
Results: Eighteen articles were identified that met the eligibility criteria. The time period was 2015-2022. The target population was parents of children who underwent exome and genome sequencing. Study participants mainly had a range of medical, psychological and social experiences.
Discussion: The parents made the decision to undergo a CGT with high hopes, and generally felt that the test was beneficial regardless of the results, but they also lived with concerns and anxiety before and after the test, suggesting the need for psychosocial support.
Methods: A search was conducted using MEDLINE (PubMed), Cochrane Library and the medical journal web, restricted to original articles. The articles obtained were carefully read and those that did not match the objectives of this study were excluded.
Results: Eighteen articles were identified that met the eligibility criteria. The time period was 2015-2022. The target population was parents of children who underwent exome and genome sequencing. Study participants mainly had a range of medical, psychological and social experiences.
Discussion: The parents made the decision to undergo a CGT with high hopes, and generally felt that the test was beneficial regardless of the results, but they also lived with concerns and anxiety before and after the test, suggesting the need for psychosocial support.