Detecting rare diseases in electronic health records using machine learning and knowledge engineering


Recently updated on January 6th, 2022 at 08:39 pm

With the growing adoption of the electronic health record (EHR) worldwide over the last decade, new opportunities exist for leveraging EHR data to detect rare diseases. One such rare malady that will be amenable to EHR-based detection is acute hepatic porphyria (AHP). AHP consists of rare metabolic diseases characterized by potentially life-threatening acute attacks and chronic debilitating symptoms. This study aimed to use machine learning and information engineering to an outsized extract of EHR knowledge to work out whether or not they may well be effective in distinguishing patients not antecedently tested for AHP World Health Organization ought to receive a correct diagnostic workup for AHP.

The application of machine learning and knowledge engineering to EHR data may facilitate diagnosing rare diseases such as AHP. Further work can suggest clinical investigation to known patients’ clinicians, appraise additional patients, assess further feature choice and machine learning algorithms, and apply this system to different rare diseases. Nevertheless, this work provides robust proof that population-level science is often applied to rare diseases, greatly raising our ability to spot unknown patients, and in the future, improve the care of those patients and our ability to study these diseases. The next step is to determine how best to use these EHR-based machine learning approaches to learn individual patients with a clinical study with diagnostic testing and clinical follow-up for those known as probably having unknown AHP.
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Patient-level knowledge is obtainable in abundance these days, incoming in each structured and unstructured format. Patients’ data is being mined from devices (wearables and smartphones), digital platforms (social media and search engines), and medical records (Electronic Health/Medical Records – EHRs).(Electronic Health/Medical Records – EHRs/ EMRs and Real-World Evidence – RWE). The School Nurse Health System can be utilized to collect health information from school students. Patient info from these knowledge sources is used together to produce Protected Health info (PHI) records by intelligently integrating the structured and unstructured data into a unified single-source-of-truth.

Pre-defined business rules, together with AI/ML techniques like Natural Language Processing (NLP) and Text Mining, the PHI master data into multiple logical disease indicators. Consisting of claims, diagnostic, and prescription info, each of those indicators aid in an exceedingly higher understanding of disease complexities. In addition, by narrowing down the scope to specific rare disease cases, these flags have the potential to create an encyclopedia of identifiable rare disease indicators based on real-life rare disease scenarios.


Patient indicators will roll up to make disease-specific personas. These personas square measure supported demographics, symptoms, behaviours, and medical histories of sets of solid rare malady patients. Supercharged by AI/ML-based markers across the malady lifecycle, pre-defined patient personas (or genomes) function as go-to guides for characteristic rare malady indications. Further, advanced applied mathematics techniques can facilitate verifying every person’s correlation with the associated malady.

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Additionally, corporations may also tie-up with industry-leading physicians to superimpose these algorithms with personal experience in addressing such patient populations. As a result, correct malady pattern markers will be derived, that square measure backed by deep patient knowledge analysis, AI/ML-based algorithms, and skilled superintendence. Once used together with prophetic triggers over in progress patient observance, these flags add large worth to the identification of rare malady patients.


The disease identification mechanisms perpetually work on 2 levels – the patient and medico. Once equipped with the proper information, intelligent technology, and due diligence, such mechanisms work wonders in saving lives. Pre-defined disease markers can type an integral part of the designation chain within the future. Embedded across multiple patient chase devices like wearables and smartphones, and integrated with medico reports and dashboards, disease markers can facilitate raising flags at the onset of the slightest disease symptoms. AI/ML-driven triggers will closely monitor patients round the clock and predict rare disease indicators terribly early within the designation method, shortening the designation timeline. Once alerted, patients and physicians are able to work along to get rid of all potentialities of disease and morbidity and take the required steps to boost patient outcomes.

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It’s necessary not to overestimate the capabilities of machine learning and AI. In rare disorders, a challenge for all of those models is the little information sets that accompany little patient populations, still because of the format of rare malady analysis wherever insights square measure is hidden in dense literature. Advances square measure already being created to seek out key info from reams of text.

Despite machine learning and computing still being in their infancy, daily, we’re seeing new and exciting innovations happening in health, and with each new project or reversal, we’re obtaining nearer to creating true computing a reality. It’s an exciting road ahead.