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Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseasesopen access

Authors
Choi, In HeeSeo, Go HunPark, JeongYunKim, Yoon-MyungCheon, Chong KunKim, Yoo-MiOh, ArumByeon, Jung HyeKang, EunguShin, Young-LimLee, Ji EunKim, Su JinYu, Hee JoonKim, Woo JinChoi, Byung YoonKim, Bong JikKim, Young HoIm, Gi JungLee, Hyo-JeongKim, Hyun JiHan, Se-HeeLee, Beom HeeEun, Baik-Lin
Issue Date
15-7월-2022
Publisher
LIPPINCOTT WILLIAMS & WILKINS
Keywords
artificial intelligence-based diagnostic program; buccal swab; medical data analysis diagnostic intelligent software; rare disease; whole-exome sequencing
Citation
MEDICINE, v.101, no.28, pp.E29424
Indexed
SCIE
SCOPUS
Journal Title
MEDICINE
Volume
101
Number
28
Start Page
E29424
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/145871
DOI
10.1097/MD.0000000000029424
ISSN
0025-7974
Abstract
The artificial intelligence (AI)-based genetic diagnostic program has been applied to genome sequencing to facilitate the diagnostic process. The objective of the current study was to evaluate the experience and level of satisfaction of participants using an AI-based diagnostic program for rare pediatric genetic diseases. The patients with neurodevelopmental disorders or hearing impairments, their guardians, and their physicians from 16 tertiary general hospitals were enrolled. The study period was from April 2020 to March 2021. A survey was designed to assess their experience and level of satisfaction. A total of 30 physicians and 243 patients and guardians (199 neurodevelopmental disorders and 44 hearing impairments) completed the survey. DNA samples of the subjects were collected through buccal swabs or blood collection: 211 subjects (86.8%) through buccal swab and 29 subjects (11.9%) through blood collection. Average turnaround time for result receipt was 57.54 +/- 32.42 days. For the sampling method, 193 patients and guardians (81.1%) and 28 physicians (93.3%) preferred buccal swab. The level of satisfaction of the 2 groups participating in the AI-based diagnostic program was 8.31 +/- 1.71 out of 10 in the patient and guardian group and 8.42 +/- 1.23 in the physician group. Clinicians, patients, and guardians are satisfied with the AI-based diagnostic program in general. With an increase in AI-based precision medicine solutions, the evaluation of the user's satisfaction with appropriate provision will help improve personal health care.
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