Genetic Testing on Patients with Developmental Delay: A Preliminary Study from the Perspective of Physicians

Abstract

This study aimed to discover and propose solutions to various decision-making problems, including obtaining consent, encountered by physicians when administering genetic testing to patients with disabilities. A preliminary survey and focus group interviews (FGIs) were conducted with 27 specialists who had 5–25 years of clinical experience in rehabilitation medicine, pediatrics, and obstetrics and gynecology, regarding their experience in providing genetic testing to people with developmental disabilities. This included the “role of medical staff in the patient’s decision-making process”, “difficulty of the consent process for genetic testing”, and so forth. Some limitations were identified in the genetic testing communication process for patients with disabilities. Although providing information corresponding to the level of understanding of each person and accurately evaluating the correct consenting ability is important, the usage rate of auxiliary tools, such as booklets and videos, was only 50.0%. Additionally, there were concerns regarding the marriage prospects of people with disabilities. For people with developmental disabilities to provide consent for genetic testing, legal consent forms and explanation aids that consider individual characteristics are necessary. Moreover, education on disability awareness throughout society, including cost support, is needed.