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      Artificial Intelligence Techniques That May Be Applied to Primary Care Data to Facilitate Earlier Diagnosis of Cancer: Systematic Review

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          Abstract

          Background

          More than 17 million people worldwide, including 360,000 people in the United Kingdom, were diagnosed with cancer in 2018. Cancer prognosis and disease burden are highly dependent on the disease stage at diagnosis. Most people diagnosed with cancer first present in primary care settings, where improved assessment of the (often vague) presenting symptoms of cancer could lead to earlier detection and improved outcomes for patients. There is accumulating evidence that artificial intelligence (AI) can assist clinicians in making better clinical decisions in some areas of health care.

          Objective

          This study aimed to systematically review AI techniques that may facilitate earlier diagnosis of cancer and could be applied to primary care electronic health record (EHR) data. The quality of the evidence, the phase of development the AI techniques have reached, the gaps that exist in the evidence, and the potential for use in primary care were evaluated.

          Methods

          We searched MEDLINE, Embase, SCOPUS, and Web of Science databases from January 01, 2000, to June 11, 2019, and included all studies providing evidence for the accuracy or effectiveness of applying AI techniques for the early detection of cancer, which may be applicable to primary care EHRs. We included all study designs in all settings and languages. These searches were extended through a scoping review of AI-based commercial technologies. The main outcomes assessed were measures of diagnostic accuracy for cancer.

          Results

          We identified 10,456 studies; 16 studies met the inclusion criteria, representing the data of 3,862,910 patients. A total of 13 studies described the initial development and testing of AI algorithms, and 3 studies described the validation of an AI algorithm in independent data sets. One study was based on prospectively collected data; only 3 studies were based on primary care data. We found no data on implementation barriers or cost-effectiveness. Risk of bias assessment highlighted a wide range of study quality. The additional scoping review of commercial AI technologies identified 21 technologies, only 1 meeting our inclusion criteria. Meta-analysis was not undertaken because of the heterogeneity of AI modalities, data set characteristics, and outcome measures.

          Conclusions

          AI techniques have been applied to EHR-type data to facilitate early diagnosis of cancer, but their use in primary care settings is still at an early stage of maturity. Further evidence is needed on their performance using primary care data, implementation barriers, and cost-effectiveness before widespread adoption into routine primary care clinical practice can be recommended.

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          Most cited references189

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          Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015 statement

          Systematic reviews should build on a protocol that describes the rationale, hypothesis, and planned methods of the review; few reviews report whether a protocol exists. Detailed, well-described protocols can facilitate the understanding and appraisal of the review methods, as well as the detection of modifications to methods and selective reporting in completed reviews. We describe the development of a reporting guideline, the Preferred Reporting Items for Systematic reviews and Meta-Analyses for Protocols 2015 (PRISMA-P 2015). PRISMA-P consists of a 17-item checklist intended to facilitate the preparation and reporting of a robust protocol for the systematic review. Funders and those commissioning reviews might consider mandating the use of the checklist to facilitate the submission of relevant protocol information in funding applications. Similarly, peer reviewers and editors can use the guidance to gauge the completeness and transparency of a systematic review protocol submitted for publication in a journal or other medium.
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            QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies.

            In 2003, the QUADAS tool for systematic reviews of diagnostic accuracy studies was developed. Experience, anecdotal reports, and feedback suggested areas for improvement; therefore, QUADAS-2 was developed. This tool comprises 4 domains: patient selection, index test, reference standard, and flow and timing. Each domain is assessed in terms of risk of bias, and the first 3 domains are also assessed in terms of concerns regarding applicability. Signalling questions are included to help judge risk of bias. The QUADAS-2 tool is applied in 4 phases: summarize the review question, tailor the tool and produce review-specific guidance, construct a flow diagram for the primary study, and judge bias and applicability. This tool will allow for more transparent rating of bias and applicability of primary diagnostic accuracy studies.
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              Dermatologist-level classification of skin cancer with deep neural networks

              Skin cancer, the most common human malignancy, is primarily diagnosed visually, beginning with an initial clinical screening and followed potentially by dermoscopic analysis, a biopsy and histopathological examination. Automated classification of skin lesions using images is a challenging task owing to the fine-grained variability in the appearance of skin lesions. Deep convolutional neural networks (CNNs) show potential for general and highly variable tasks across many fine-grained object categories. Here we demonstrate classification of skin lesions using a single CNN, trained end-to-end from images directly, using only pixels and disease labels as inputs. We train a CNN using a dataset of 129,450 clinical images—two orders of magnitude larger than previous datasets—consisting of 2,032 different diseases. We test its performance against 21 board-certified dermatologists on biopsy-proven clinical images with two critical binary classification use cases: keratinocyte carcinomas versus benign seborrheic keratoses; and malignant melanomas versus benign nevi. The first case represents the identification of the most common cancers, the second represents the identification of the deadliest skin cancer. The CNN achieves performance on par with all tested experts across both tasks, demonstrating an artificial intelligence capable of classifying skin cancer with a level of competence comparable to dermatologists. Outfitted with deep neural networks, mobile devices can potentially extend the reach of dermatologists outside of the clinic. It is projected that 6.3 billion smartphone subscriptions will exist by the year 2021 (ref. 13) and can therefore potentially provide low-cost universal access to vital diagnostic care.
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                Author and article information

                Contributors
                Journal
                J Med Internet Res
                J Med Internet Res
                JMIR
                Journal of Medical Internet Research
                JMIR Publications (Toronto, Canada )
                1439-4456
                1438-8871
                March 2021
                3 March 2021
                : 23
                : 3
                : e23483
                Affiliations
                [1 ] Primary Care Unit Department of Public Health & Primary Care University of Cambridge Cambridge United Kingdom
                [2 ] Wolfson Institute for Preventive Medicine Queen Mary University of London London United Kingdom
                [3 ] Centre for Cancer Research and Department of General Practice University of Melbourne Victoria Australia
                [4 ] College of Medicine and Health University of Exeter Exeter United Kingdom
                [5 ] Center for Innovations in Quality, Effectiveness and Safety Michael E DeBakey Veterans Affairs Medical Center and Baylor College of Medicine Houston, TX United States
                [6 ] Julius Center for Health Sciences and Primary Care UMC Utrecht Utrecht Netherlands
                Author notes
                Corresponding Author: Owain T Jones otj24@ 123456medschl.cam.ac.uk
                Author information
                https://orcid.org/0000-0003-2783-9431
                https://orcid.org/0000-0002-5068-2543
                https://orcid.org/0000-0003-0002-6326
                https://orcid.org/0000-0003-4901-7922
                https://orcid.org/0000-0002-5274-6336
                https://orcid.org/0000-0003-1611-1373
                https://orcid.org/0000-0002-4419-8974
                https://orcid.org/0000-0002-0273-8290
                https://orcid.org/0000-0002-7191-6476
                Article
                v23i3e23483
                10.2196/23483
                7970165
                33656443
                85631271-9e84-445d-bba3-9946dc34efbd
                ©Owain T Jones, Natalia Calanzani, Smiji Saji, Stephen W Duffy, Jon Emery, Willie Hamilton, Hardeep Singh, Niek J de Wit, Fiona M Walter. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 03.03.2021.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in the Journal of Medical Internet Research, is properly cited. The complete bibliographic information, a link to the original publication on http://www.jmir.org/, as well as this copyright and license information must be included.

                History
                : 13 August 2020
                : 1 October 2020
                : 5 November 2020
                : 30 November 2020
                Categories
                Original Paper
                Original Paper

                Medicine
                artificial intelligence,machine learning,electronic health records,primary health care,early detection of cancer

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