top of page
  • Writer's pictureMichael Goettler

A New Era in Rare Disease Diagnosis and Treatment


Rare Disease

February 29th is the rarest day on the calendar, occurring only once every four years. During those four years, significant changes can happen, and new scientific discoveries are made. 


Coincidentally, for people with rare diseases, it takes an average of four to five years to obtain an accurate diagnosis from a specialist. After years of mystery symptoms and enduring endless testing and expenses while missing out on a possible treatment, finally learning one’s condition can bring feelings of relief. However, these diagnoses are typically followed by the ugly truth that many rare diseases are fatal, and patients often only have about five years to live once their condition is identified correctly – years that could have been spent much better if only the diagnosis were faster.


Rare diseases are classified as affecting fewer than 5-6 in 10,000 people. However, there are more than 10,000 rare diseases, and with a global population of 8 billion, rare diseases are anything but rare – affecting over 400 million people worldwide. 


So, what are some ways to better diagnose and treat these diseases? Genetic medicine and artificial intelligence may hold the key.


72% of rare diseases are genetic.


Recent advances in genetic medicines – whether mRNA, RNAi, gene therapy, gene editing, or other approaches – are bound to have a transformative impact on rare diseases. 


Most recently, Nobel Prize-winning CRISPR gene-editing technology has been approved for treating sickle cell anemia, and more recently, the FDA extended the same approval to the treatment of Transfusion-Dependent Beta Thalassemia, making cutting-edge therapies accessible to a broader patient population. Considering about half of all gene therapy trials are for rare diseases, more approvals are bound to happen.


The greatest challenge in this space is not scientific and medical but commercial. Many health plans do not cover the approved gene therapies that have already been launched into the commercial market, or they impose restrictive policies to limit the number of patients who might be treated with a given therapy in a year. This has somewhat tempered the industry’s enthusiasm for these transformative and potentially curative treatments. 


AI: Diagnose Earlier, Treat Better


AI seems perfectly suited to support doctors and improve patients' lives with rare diseases. For any healthcare professional, the sheer number of rare diseases is impossible to keep up with, and symptoms often masquerade as those of more common diseases. 


Imagine a doctor being assisted by an AI tool that can draw from not hundreds but hundreds of millions of patient records, including unstructured data, such as a patient’s family history, medical history, and genetic reports, in an instant.


In addition to the decision-making support to individual doctors, large healthcare systems could run scans across their entire patient population to flag any potentially undiagnosed or misdiagnosed patients. Several companies, like ThinkGenetic and Saventic, are using AI to do exactly that. 


Over 90% of rare diseases have no treatment yet. AI can be instrumental in accelerating the drug discovery and development process to increase the likelihood of curing rare diseases. During my time at Pfizer, I witnessed early on when we ran a pilot program with IBM’s Watson to identify drug development candidates better. Since then, technology evolved even further.


In medical school, doctors are told that when they “hear hoofbeats,” they should not expect to see a zebra but the more common horse. Unfortunately, this rule of thumb does not serve the 400 million patients living with a rare disease around the world. This is why we must advocate for better tools to diagnose and treat these unique conditions. 


Join me on Rare Disease Day 2024 to raise awareness and show your stripes!


Recent Posts

See All

Comments


bottom of page