Patients who visit Narayani Multispecialty Hospital in Nashik can sometimes spend years trying to find a diagnosis for their illness. Many of these patients have visited several doctors, tried numerous treatments without knowing what is wrong with them, and travelled to multiple clinics in search of answers. Unfortunately, this is a very difficult challenge many individuals have when trying to receive a diagnosis for a rare disease, but with new technology such as Artificial Intelligence (AI in healthcare), the landscape of how rare diseases are diagnosed is beginning to change for the better.
The Challenge of Diagnosing Rare Diseases
Currently, there are over 7,000 known rare diseases, and there are multiple rare diseases that display symptoms that are similar to more common diseases. Examples of these symptoms can include fatigue, joint pain, headaches, digestive issues, etc. As one can easily see, due to the multiple symptoms associated with rare diseases, many individuals with a rare disease are misdiagnosed regularly. The current process is very laborious for a physician because a physician will use their experience, prior medical history, lab reports, and imaging to attempt to reach a diagnosis. If the symptoms do not align well enough or fit a known pattern, the time that it may take a physician to reach a diagnosis can sometimes take several years.
The delay in receiving a diagnosis may lower the probability of successful treatment and the quality of life experienced by patients with a rare disease. This is where AI-enabled medical diagnosis tools are making a significant difference; AI-based diagnostic tools are adding real value to physicians, making smarter and more efficient decisions on how to treat patients, not replacing physicians or clinicians.
How AI is Helping Physicians Think Smarter, Not Replace Them
The AI, via the use of advanced medical software applicable to diseases, will analyse large amounts of data from different sources, which include:
Patient symptoms
Lab report information
MRI/CT/X-ray
Genetic testing
Access through global medical research databases
AI is capable of rapidly comparing a patient’s medical history against millions of international patient records, seeking patterns and relationships that could lead to the identification of unusual diseases (examples include rare genetic and autoimmune disorders).
AI will make a major contribution towards shortening the period for Differential Diagnosis — the process by which doctors reduce their ‘shortlists’ of suspected diseases for any particular patient.
SIGNIFICANT PROGRESS IN THE AREAS OF AI AND MEDICAL IMAGING:
AI is revolutionising how radiologists interpret images. They can use AI systems to look for small imaging abnormalities that might be early warning signals of rare cancers, brain disorders and lung diseases… These abnormalities can be too subtle for the human eye to detect (if they were present in such early stages).
AI will quickly and accurately identify areas of imaging suspicion to assist radiologists in providing more precise results and improving the likelihood of identifying early-stage rare diseases, and, subsequently, providing better treatments compared to patients with more progressed cases of rare disease.
Using Your Genes to Find Answers
Some very rare conditions can be identified by analysing genetic information. Artificial intelligence (AI) can help understand complex genetic sequencing to identify mutation(s) associated with rare inherited disease(s). The time required to perform the manual analysis was weeks; however, now only a fraction of that time is needed, allowing families to receive clarity about the diagnosis much sooner.
What This Means for Patients
The use of AI in care provided at Narayani Multispeciality Hospital, Nashik, for patients includes:
Lesser times for diagnosis
Less additional testing that is unnecessary
More accurate treatments tailored specifically to the patient
Less emotional stress from not knowing the answer sooner
However, the most important benefit of using AI is creating hope. When technology and medical expertise work together, the ability to diagnose even the rarest diseases is improved.
The future of healthcare will no longer be focused on just machines, but on having smarter, faster and more compassionate care. AI is allowing doctors to deliver answers when patients require them.