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

被引：1

作者：

Choi, In Hee ^{[1
]}

Seo, Go Hun ^{[2
]}

Park, JeongYun ^{[3
]}

Kim, Yoon-Myung ^{[4
]}

Cheon, Chong Kun ^{[5
]}

Kim, Yoo-Mi ^{[6
]}

Oh, Arum ^{[7
]}

Byeon, Jung Hye ^{[8
]}

Kang, Eungu ^{[8
]}

Shin, Young-Lim ^{[9
]}

Lee, Ji Eun ^{[10
]}

Kim, Su Jin ^{[10
]}

Yu, Hee Joon ^{[11
]}

Kim, Woo Jin ^{[9
,12
]}

Choi, Byung Yoon ^{[13
]}

Kim, Bong Jik ^{[14
]}

Kim, Young Ho ^{[15
]}

Im, Gi Jung ^{[16
]}

Lee, Hyo-Jeong ^{[17
]}

Kim, Hyun Ji ^{[18
]}

Han, Se-Hee ^{[19
]}

Lee, Beom Hee ^{[20
]}

Eun, Baik-Lin

机构：

[1] Univ Ulsan, Dept Genet Counseling, Coll Med, Seoul, South Korea

[2] 3billion Inc, Seoul, South Korea

[3] Univ Ulsan, Dept Clin Nursing, Seoul, South Korea

[4] Univ Ulsan, Gangneung Asan Hosp, Dept Pediat, Coll Med, Kangnung, South Korea

[5] Pusan Natl Univ, Div Med Genet & Metab, Dept Pediat, Sch Med,Pusan Natl Univ Childrens Hosp, Pusan, South Korea

[6] Chungnam Natl Univ, Dept Pediat, Pediat Ctr, Sejong Hosp,Coll Med, Sejong, South Korea

[7] Chungbuk Natl Univ, Chungbuk Natl Univ Hosp, Dept Pediat, Coll Med, Cheongju, South Korea

[8] Korea Univ, Dept Pediat, Coll Med, Seoul, South Korea

[9] Soonchunhyang Univ, Dept Pediat, Bucheon Hosp, Coll Med, Bucheon, South Korea

[10] Inha Univ, Inha Univ Hosp, Dept Pediat, Coll Med, Incheon, South Korea

[11] Hallym Univ, Dept Pediat, Sacred Heart Hosp, Gyeonggido, South Korea

[12] EONE Labs, Incheon, South Korea

[13] Seoul Natl Univ, Dept Otorhinolaryngol, Bundang Hosp, Seongnam, South Korea

[14] Chungnam Natl Univ, Chungnam Natl Univ Coll Med, Dept Otolaryngol Head & Neck Surg, Sejong Hosp, Sejong, South Korea

[15] Seoul Natl Univ, Dept Otorhinolaryngol, Boramae Med Ctr, Coll Med, Seoul, South Korea

[16] Korea Univ, Dept Otorhinolaryngol, Coll Med, Seoul, South Korea

[17] Hallym Univ, Dept Otorhinolaryngol Head & Neck Surg, Coll Med, Chunchon, South Korea

[18] Inha Univ, Dept Otorhinolaryngol Head & Neck Surg, Coll Med, Incheon, South Korea

[19] Korea Univ, Guro Hosp, Seoul, South Korea

[20] Univ Ulsan, Ctr Med Genet, Asan Med Ctr, Coll Med, Seoul, South Korea

来源：

MEDICINE | 2022年 / 101卷 / 28期

关键词：

artificial intelligence-based diagnostic program; buccal swab; medical data analysis diagnostic intelligent software; rare disease; whole-exome sequencing;

D O I：

10.1097/MD.0000000000029424

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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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页数：7

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