The news -- that Nicholas Volker, a 6-year-old American patient with a rare disease, was first diagnosed based on advanced genomic technology -- made headlines in the genetic diagnosis academia and industry in 2011. It was then that I first learned about the problem of diagnosing rare diseases. But I never imagined that I would translate the book “One in a billion,” which told the story of Nicholas Volker, into the Korean language to introduce the case to the Korean audience in 2016 and create a start-up, 3billion, which pursues innovations in the diagnosis of rare diseases using AI. Through the case of Nicholas Volker, I came to understand how difficult it is to diagnose rare diseases, what kind of pain patients are experiencing, and what innovations are needed to solve these problems. This is what made me decide to do this innovation myself.

A rare disease is defined as a disease that occurs in fewer than 1 in 2,000 people, although it varies slightly from country to country. Infectious diseases caused by viruses such as Covid-19, genetic diseases caused by abnormalities in innate genes, and various cancers caused by congenital or acquired causes all occur in fewer than 1 in 2,000 people. If the criteria are met, it is a rare disease. In the case of Covid-19, it was defined as a rare disease in the early days when there was fewer than 1 patient in 2,000. But now, it is outside the scope of a rare disease, with tens of thousands of new patients occurring every day.

Rare diseases occur in 3.5 million out of the world’s 7 billion population. In Korea, about 25,000 patients suffer from rare diseases. However, there are over 10,000 types of rare diseases. If the number of patients with more than 10,000 rare diseases is combined, it is estimated that about 5.7 percent of the world’s population has rare diseases. This means that approximately 400 million patients worldwide including 2.85 million Korean patients are estimated to have rare diseases. There are a small number of patients with each rare disease, but there are many types of rare diseases, so the total number of patients with rare diseases is very large. This is where the irony of a rare but not rare disease arises.

Over 10,000 types of rare diseases. This is the “difficulty of diagnosis” that patients with rare diseases encounter for the first time. This is because it is difficult to have physicians who have mastered all 10,000 rare diseases, and it takes a lot of time and money to diagnose each disease individually. Even if a disease is inferred from a symptom group similar to the patient's symptoms, it is difficult to accurately diagnose it in a short time and at an appropriate cost because there are so many rare diseases that cause similar symptoms. For example, if there is a presumed rare disease patient with hearing loss, to make a diagnosis, more than 800 rare diseases must be defined as the potential disease target group. This is because there are over 800 rare diseases that cause hearing loss as a symptom.

For this reason, it takes about five years on average for a patient with a rare disease to receive an accurate diagnosis. Considering that diagnosis is the beginning of treatment, patients with rare diseases do not receive proper treatment for five years even after the onset, and waste a lot of time, money, and experience physical and mental pain, only for diagnosis.

Can’t we help patients with rare diseases get an accurate diagnosis in a short time? Can’t we quickly diagnose hundreds or thousands of diseases that may have caused the patient’s symptoms? If we can do so, we would greatly revolutionize the diagnosis and treatment of patients with rare diseases. Fortunately, there is a possibility to solve the problem. That is the innovative genome technology that was used to diagnose Nicholas Volker.

Around 80 percent of 10,000 rare diseases are hereditary diseases caused by genetic problems. If over 20,000 human genes can be read and 8,000 diseases caused by genetic factors can be tested and quickly diagnosed swiftly, patients with known genetic diseases can receive an accurate diagnosis and start the right treatment in a month.

Since the case of Nicholas Volker, medical genetics using genome technology for diagnosis has developed rapidly. About 40 percent of patients with rare diseases suspected of having genetic diseases get a diagnosis within a month or two on average by reading all 20,000 genes at once. While Volker needed over 100 million won for diagnosis, the cost has drastically dropped to about 1-2 million won. Accessibility has improved to a point where anyone who needs a genetic test can receive it.

However, the problem of diagnosing rare diseases has not been completely resolved, even with genome-based diagnostic technology. People need to increase the effectiveness of genome diagnosis through the development of genome technology. People also need to improve the healthcare system and insurance policy so that patients with rare diseases can get a fast diagnosis without worrying about costs. Also, it is necessary to raise public awareness of rare diseases to empower policy support.

Over half of rare disease patients experience the onset after they become adults. This means that anyone, including I and my family, can become a rare disease patient. I hope that many people will pay attention to the suffering of patients with rare diseases and provide policy support for the treatment and diagnosis of rare diseases.

This column was originally published in Korean in Korea Healthlog. -- Ed.