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Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce.

作者信息

Berkstresser Amanda M, Hanchard Suzanna E Ledgister, Iacaboni Daniela, McMilian Kevin, Duong Dat, Solomon Benjamin D, Waikel Rebekah L

机构信息

Genetic Counseling Program, School of Health & Natural Sciences, Bay Path University, Longmeadow, Massachusetts, United States of America.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

出版信息

medRxiv. 2025 May 2:2025.04.30.25326673. doi: 10.1101/2025.04.30.25326673.


DOI:10.1101/2025.04.30.25326673
PMID:40343038
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12060961/
Abstract

PURPOSE: Artificial intelligence (AI) applications for clinical genetics hold the potential to improve patient care through supporting diagnostics and management as well as automating administrative tasks, thus enhancing and potentially enabling clinician/patient interactions. While the introduction of AI into clinical genetics is increasing, there remain unclear questions about risks and benefits, and the readiness of the workforce. METHODS: To assess the current clinical genetics workforce's use, knowledge, and attitudes toward available medical AI applications, we conducted a survey involving 215 US-based genetics clinicians and trainees. RESULTS: Over half (51.2%) of participants report little to no knowledge of AI in clinical genetics and 64.3% reported no formal training in AI applications. Formal training directly correlated with self-reported knowledge of AI in clinical genetics, with 69.3% of respondents with formal training reporting intermediate to extensive knowledge of AI vs. 37.5% without formal training. Most participants reported that they lacked sufficient knowledge of clinical AI (83.4%) and agreed that there should be more education in this area (97.6%) and would take a course if offered (89.3%). The majority (51.6%) of clinician participants said they never used AI applications in the clinic. However, after a tutorial describing clinical AI applications, 75.8% reported some use of AI applications in the clinic. When asked specifically about clinical AI application usage, the majority of clinician participants used facial diagnostic applications (54.9%) and AI-generated genomic testing results (62.1%), whereas other applications such as chatbots, large language models (LLMs), pedigree or medical summary generators, and risk assessment were only used by a fraction of the clinicians, ranging from 11.1 to 12.5%. Nearly all participants (94.6%) reported clinical genetics professionals as being overburdened. CONCLUSION: Further clinician education is both desired and needed to optimally utilize clinical AI applications with the potential to enhance patient care and alleviate the current strain on genetics clinics.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/e2b8b47cf40b/nihpp-2025.04.30.25326673v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/54d2e037ae33/nihpp-2025.04.30.25326673v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/0e2123f4b4a7/nihpp-2025.04.30.25326673v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/e3b372dfd930/nihpp-2025.04.30.25326673v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/e2b8b47cf40b/nihpp-2025.04.30.25326673v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/54d2e037ae33/nihpp-2025.04.30.25326673v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/0e2123f4b4a7/nihpp-2025.04.30.25326673v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/e3b372dfd930/nihpp-2025.04.30.25326673v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e42b/12060961/e2b8b47cf40b/nihpp-2025.04.30.25326673v1-f0004.jpg

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Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce.

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本文引用的文献

[1]
Physician Perspectives on Ambient AI Scribes.

JAMA Netw Open. 2025-3-3

[2]
Detection and characterization of copy-number variants from exome sequencing in the DDD study.

Genet Med Open. 2024-1-28

[3]
Perspectives on Artificial Intelligence-Generated Responses to Patient Messages.

JAMA Netw Open. 2024-10-1

[4]
Radiologists' perceptions on AI integration: An in-depth survey study.

Eur J Radiol. 2024-8

[5]
Artificial intelligence for cardiovascular disease risk assessment in personalised framework: a scoping review.

EClinicalMedicine. 2024-5-27

[6]
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.

JAMA Netw Open. 2024-3-4

[7]
A scoping review of artificial intelligence in medical education: BEME Guide No. 84.

Med Teach. 2024-4

[8]
Adapted large language models can outperform medical experts in clinical text summarization.

Nat Med. 2024-4

[9]
Are better AI algorithms for breast cancer detection also better at predicting risk? A paired case-control study.

Breast Cancer Res. 2024-2-7

[10]
The future landscape of large language models in medicine.

Commun Med (Lond). 2023-10-10

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