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Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
Inaba, Akira; Yoshida, Akiko; Maeda, Akiko; Kawai, Kanako; Kosugi, Shinji; Takahashi, Masayo.
Afiliação
  • Inaba A; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.
  • Yoshida A; Laboratory for Retinal Regeneration, RIKEN, Center for Biosystems Dynamics Research, Kobe, Japan.
  • Maeda A; Department of Medical Ethics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Kawai K; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.
  • Kosugi S; Laboratory for Retinal Regeneration, RIKEN, Center for Biosystems Dynamics Research, Kobe, Japan.
  • Takahashi M; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.
J Genet Couns ; 31(4): 860-867, 2022 08.
Article em En | MEDLINE | ID: mdl-35106875
Inherited retinal disease (IRD) is clinically and genetically heterogeneous. Awareness of the importance of genetic testing for IRD in the clinical setting is increasing with the recent development of new therapeutic strategies, such as gene therapy. Here, 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 counseling practices that can meet the requirements of the patients in Japan. An anonymous self-administered questionnaire was distributed to 275 patients with IRD who underwent genetic testing after clinical consultation and genetic counseling to investigate the motivations for genetic testing, benefits, challenges, status of communication of results to family, and attitude to timing of genetic testing. In total, 228 (82.9%) responses were analyzed. Several major motivations for genetic testing were identified, including gaining information on future treatment options and clarification of the inheritance pattern, among others. No association was found between the sharing of results with family members and the results of genetic testing. 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. Altogether, these findings suggest that provisions for genetic testing and genetic counseling are necessary within a certain period after clinical diagnosis and it is necessary to facilitate appropriate family communication about genetic testing results while paying attention to the background of family relationships. 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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Testes Genéticos Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Testes Genéticos Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article