Faster diagnosis for patients with rare diseases
Saventic Health developed an AI-based algorithmic platform to streamline rare disease diagnosis, increasing the probability of early diagnosis compared to traditional detection methods
Written by Szymon Piatkowski, Saventic.
Five years is what it takes on average to diagnose a rare disease; in some cases, over a decade, according to a paper published in Genome Medicine.1 But, what if we could decrease this time and streamline the diagnosis process?
This is exactly what Saventic Health does, a medtech company founded in 2019 by Szymon Piatkowski and Prof Grzegorz Basak that develops advanced technologies, such as artificial intelligence algorithms, to support and streamline rare disease diagnosis. The solution is already available in Central and Eastern Europe, Germany, Brazil and Canada, and the company has plans to expand its activities to other countries in 2024.
Key problems with rare disease diagnosis
The landscape of rare diseases presents a significant challenge within the healthcare sphere. According to figures from Rare-X, there are nearly 11,000 rare diseases2, of which just over 500 have viable treatments.2 Compounding this issue is the scarcity of qualified specialists, and the natural limitations of general practitioners to be able to accurately diagnose rare conditions.
According to a paper in the European Journal of Human Genetics, around 3.5% to 5.9% of the global population is affected by a rare disease at any point in time3—which corresponds to between 280 million and 472 million people within the global population of 8 billion people in 2023.
This challenge presents a substantial dilemma in healthcare, since delayed and inaccurate diagnoses risk denying many patients access to crucial life-saving treatments. Beyond the immediate health repercussions, the impact of a protracted diagnostic journey reverberates across various domains, causing significant investments of time and money, and increasing the emotional and physical toll faced by patients and their families.
Revolutionising diagnosis: Saventic Health’s AI-driven approach
Taking effective steps to tackle the diagnosis challenge not only mitigates considerable hardship but also enables a more efficient allocation of resources within the healthcare sector—and this is Saventic Health’s mission.
By developing advanced algorithms (e.g. natural language processing tools to analyse electronic medical records) it is possible to identify a large number of variables which are very difficult to spot by doctors. As a result, the Saventic Health digital solution can assess the likelihood of specific rare conditions and flag the patient for physicians. Saventic Health’s proprietary technology meticulously sifts through patients’ anonymised medical data, identifying key terms and symptoms, and ultimately notifies the physician of the probability of rare disease.
The company offers two solutions. The first is Saventic Med, where a server is implemented on health centre premises and scans patient’s medical information to flag patients with a high risk of having a rare disease. Based on this, doctors can refer their patients to proper care. The second is Saventic Care, a web platform where patients themselves can share data about their health. Once the algorithm verifies and synthesises this information, it generates a personalised score for each patient, indicating the potential risk associated with particular ailments. Patients can then be referred to proper specialists or healthcare facilities for further evaluation and care.
Most importantly, both solutions are classified as a medical device, certified in various countries. Saventic managed to develop tools that are in line with existing regulations and challenges in terms of patient consent, data protection and compliance. For example, the Saventic Med platform can be implemented locally, within hospital premises with no risk of data leaving the clinic. This is a strong advantage, allowing Saventic to sign agreements with hospitals around the globe.
Currently, Saventic Health’s algorithmic platforms are able to identify 30 diseases, including: Gaucher, Fabry, Niemann-Pick, Pompe, Castleman, Hereditary angioedema (HAE), cutaneous T-cell lymphoma (CTCL), amyloidosis, mucopolysaccharidosis types I, II and III, and primary immunodeficiencies. Saventic Health’s medical and engineering team is working to add more rare diseases to their database so they can assist an even larger population of patients in need, including rare diseases in rheumatology (e.g. Sjogren’s disease, Still’s disease), dermatology (e.g. CTCL) and neurology (e.g. spasticity).
Importantly, Saventic Health’s service is free of charge for patients, physicians or healthcare centres seeking access to diagnostic assistance
Saventic Health’s algorithms are currently able to identify:
| Blood and bone marrow diseases | Metabolic disorders | Immune system conditions | Cardiology syndromes |
| Blood cancers (such as mastocytosis and myelofibrosis) | Gaucher | Common variable immunodeficiency (CVID) | Amyloidosis AL |
| Cutaneous T-cell lymphoma (CTCL) | Fabry | Severe combined immunodeficiency (SCID) | Amyloidosis ATTR |
| Thrombotic thrombocytopenic purpura (TTP) | Pompé | DiGeorge syndrome | |
| Paroxysmal nocturnal haemoglobinuria (PNH) | Hereditary angioedema | Chronic granulomatous disease (CGD) | |
| Castleman | Mucopolysaccharidoses type 1 (MPS 1) | ||
| Immune thrombocytopenic purpura (ITP) | Mucopolysaccharidoses type 2 (MPS 2 or Hunter’s disease) | ||
| Haemophagocytic lymphohistiocytosis (HLH) | Mucopolysaccharidoses type 3 (MPS 3) |
Saventic Health in action
In April 2016, a patient began experiencing symptoms including nystagmus (rapid, uncontrollable eye movements), dizziness and tinnitus, and manifested a solitary focal lesion, detected via MRI. By May of the same year, the patient also displayed unexplained cardiomyopathy and hearing loss in the right ear.
Come January 2021, the patient was admitted to hospital due to chest pain, with clinical suspicion pointing towards amyloidosis. No other rare disease was ever considered within the patient’s electronic health records (EHRs).
By February 2021, the patient’s mother, brother, and sister had been diagnosed with cardiomyopathy. Furthermore, the patient’s brother underwent a dual kidney transplant.
In March 2022, Saventic Health’s technology was introduced at the hospital where the patient received care. The algorithms flagged the individual as having a high risk of Fabry disease, prompting a referral for genetic tests. The Fabry diagnosis was confirmed, leading to additional referrals for tests among family members, with four of them also receiving a diagnosis.
This underscores the possibility that the algorithm could have potentially indicated the patient’s condition as early as 2016, six years before the actual diagnosis 4.
The crucial impact of early diagnosis
Early diagnosis plays an essential role in effective and efficient healthcare delivery, having the potential to significantly alter the course of an individual’s health journey. It serves as a key element, facilitating timely intervention, better treatment outcomes and improved patient well-being.
At its core, early diagnosis provides a gateway to prompt medical intervention, enabling healthcare professionals to identify potential health concerns in their early stages. This proactive approach allows for swift action, initiating treatment or management strategies, when diseases are most amenable to intervention. Consequently, it can halt the progression of certain conditions, prevent complications and enhance the effectiveness of therapeutic interventions.
Moreover, timely diagnosis contributes significantly to reducing the burden on healthcare systems. By detecting ailments early, patients are no longer bouncing around the system searching for answers in what is often a 5- to 10-year heart-wrenching journey for the patient and their families. Early detection also mitigates the need for more extensive and costly interventions that might become necessary at later stages of a disease. Early detection often translates into less invasive and more manageable treatment modalities. All of this results in reduced healthcare costs and resource utilisation. So, it’s not merely about identifying health issues sooner—it’s about transforming the entire trajectory of healthcare.
How to get our help
If you are a patient, we invite you to visit Saventic Care’s website (saventiccare.com) to request a free evaluation, or one of our regional websites (in regional languages):
- Germany: https://www.saventiccare.de
- Poland: https://www.fundacjasaventic.pl
- Brazil: www.saventiccare.com.br
On the website, you can fill out a form detailing your symptoms, their frequency and intensity. Additionally, you may provide your medical history and any relevant previous exams. This information enables our algorithms to assess the potential risk of rare diseases.
In conjunction with our algorithmic analysis, our medical team, comprising immunologists, geneticists, haematologists and other specialists in rare diseases, meticulously reviews each case. Their collective expertise significantly contributes to our evaluation process.
For individuals identified with a heightened risk of rare diseases, we can streamline referrals for blood tests, genetic analyses or other pertinent diagnostic examinations. Saventic Care offers these tests at no cost.
Thanks to our collaborative efforts with affiliated physicians, every patient receives personalised attention, ensuring that no case goes unaddressed. We diligently reach out to all individuals seeking assistance, even if they do not face a risk of a rare disease.
Join our cause
Beyond providing diagnostic support, our organisation is committed to raising awareness about rare diseases within society. Moreover, we are actively planning to expand our initiatives by including more diseases. This expansion aims to reach a larger patient community and offer assistance to individuals who have not yet received support.
You are invited to join our cause and contribute with Saventic Health’s expansion. Help us transform the healthcare system through the power of technology. Contact us at info@saventic.com
References
[1] Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine. 2022 Feb 28;14(1):23.
[2] The Power of Being Counted – RARE-X [Internet]. [cited 2024 Jan 4]. Available from: https://rare-x.org/case-studies/the-power-of-being-counted/
Rare diseases Are a Public Health Issue. Available from: https://nihrecord.nih.gov/2021/04/16/rare-diseases-are-public-health-issue
[3] Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0
[4] Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach. Available from: https://www.mdpi.com/2077-0383/12/10/3599
Images: Canva
