According to a story from The New Paper, the KK Women’s and Children’s Hospital (KKH) in Singapore has successfully developed a test that could make diagnosing genetic rare diseases more rapidly and effectively. The test came in response to cases where doctors were unable to diagnose a disease, and, despite attempted treatment, failed to save the patient.
The Diagnosis Dilemma
One of the most challenging things about having a rare disease is actually finding out what the disease actually is. Many rare diseases have nonspecific symptoms. This means that these symptoms are not that useful for diagnosis, and as a result, it is easy for physicians to diagnose a patient with a more common disease that produces similar symptoms. This is a common mistake for doctors to make, especially since many of them have little awareness or experience with rare diseases.
A misdiagnosis can unfortunately be a lethal mistake for rare disease patients. A drug used for a more common illness could cause a reaction when used with a rare disease, and many treatments are more effective if begun promptly. Many rare diseases progressively worsen over time, so there is less chance for treatment to be effective if the condition has reached a more advanced stage. Diagnosis can be a traumatizing and drawn out process, and is definitely one of the worst hurdles that rare patients face.
About The Test
The test is similar to other genetic tests that have already been developed: a patient’s blood is drawn and their DNA is sequenced. With this data, scientists can identify genetic mutations or variants that could be harbringers of a rare, genetic disease or syndrome. Hospital personnel say that developing the test locally instead of using one that is already available is helpful because it may be more representative of the local gene pool.
Genetic Testing in Action
The DNA test was recently used to help diagnose Jayden Tan. He had significant developmental delays when he was young, and the test successfully identified his disease as PURA syndrome. He is 12 years old and is the only person in Singapore who is known to have PURA syndrome. The oldest living person with the syndrome is 28 years old, which gives hope for his future to his mother Serene Poh.