講演情報
[P29-7]遺伝性網膜変性疾患患者における遺伝子診断の認識：ベネフィットと課題
○稲葉 慧1,2, 吉田 晶子1,2,3, 河合 加奈子2, 前田 亜希子2, 小杉 眞司1,4, 高橋 政代2 (1.京都大学医学部附属病院 遺伝子診療部, 2.神戸市立神戸アイセンター病院 眼科, 3.京都大学大学院医学研究科 ゲノム医療学, 4.京都大学大学院医学研究科 医療倫理学・遺伝医療学)
【Background and Objectives】Inherited retinal disease (IRD) is clinically and genetically heterogeneous. The perception of genetic testing, including its benefits and potential challenges, among patients with IRD was investigated to establish strategies for IRD genetic testing and genetic counseling.
【Methods】An anonymous self-administered questionnaire was distributed to 275 patients with IRD who underwent genetic.
【Results】In total, 228 (82.9%) responses were analyzed. Of these, 100 (43.9%) patients received positive results. Several major motivations for genetic testing were identified, including gaining information on future treatment options and clarification of the inheritance pattern, among others. Moreover, according to patients who received positive results, the benefits of genetic testing included information on the inheritance pattern, additional information on the diagnosis, and mental preparation for the future. Even patients who received negative or inconclusive (variant of uncertain significance) results reported certain informative and psychological benefits. Eighty-eight (38.6%) patients reported that they would have preferred to undergo genetic testing at an earlier time point.
【Discussion】These findings suggest that provisions for genetic testing and genetic counseling are necessary within a certain period after clinical diagnosis. Moreover, the benefits of genetic testing can be influenced by the careful interpretation and information provided on the test results during genetic counseling and consultation.
【Methods】An anonymous self-administered questionnaire was distributed to 275 patients with IRD who underwent genetic.
【Results】In total, 228 (82.9%) responses were analyzed. Of these, 100 (43.9%) patients received positive results. Several major motivations for genetic testing were identified, including gaining information on future treatment options and clarification of the inheritance pattern, among others. Moreover, according to patients who received positive results, the benefits of genetic testing included information on the inheritance pattern, additional information on the diagnosis, and mental preparation for the future. Even patients who received negative or inconclusive (variant of uncertain significance) results reported certain informative and psychological benefits. Eighty-eight (38.6%) patients reported that they would have preferred to undergo genetic testing at an earlier time point.
【Discussion】These findings suggest that provisions for genetic testing and genetic counseling are necessary within a certain period after clinical diagnosis. Moreover, the benefits of genetic testing can be influenced by the careful interpretation and information provided on the test results during genetic counseling and consultation.