Doctors Are Unable to Diagnose Many Rare Diseases. Genome Sequencing is Changing That Scenario

After twenty-two years physician Huang Chun-jung finally learned why his vision and hearing have fallen to thirty percent of normalcy, thanks to research conducted by the National Health Research Institutes (NHRI). A recent article in the Taipei Times reports that through genome sequencing he learned that he has Usher syndrome and can finally seek treatment.

On a more positive note, his family was told that his elder sister and daughter were clear as far as any genetic pre-existence of Usher syndrome.

What is Whole Genome Sequencing (WGS)?

Whole genome (an organism’s DNA) sequencing allows physicians to spell out (sequence) the three billion letters of a person’s genome. Any new changes in the sequence might signify disease. Therefore being able to identify these variations helps in diagnosing and treating disease.

When compared to standard methods of testing, WGS is more precise and provides more details. The difference in technique can be found by using this example. Consider comparing two books by counting all the words in one book (as with WGS) versus counting all the chapters in the other book. In other words, WGS provides doctors with a significantly larger field for comparison and diagnosis. Find information on WGS about projects at the NIH in the U.S. here.

The Significance of WGS

Rare diseases numbering in the thousands must be identified and treated. Doctors have been relying on the standard method of testing for years. Until the advent of WGS, they have had no other option but to experiment with various treatments for their patients until they found one that was effective.

Currently, medical researches are able to make accurate diagnoses in about thirty percent of rare disease cases. The institute estimates that this rate will double as a result of WGS.

To date, WGS has been instrumental in identifying about seven thousand rare diseases. Four hundred of these can be treated. Eighty percent are hereditary.

In an effort to give support and answers to people with rare diseases, the NHRI is maintaining an online network. It is also coordinating its efforts with various civic foundations to help patients and also assist their families.

Rare Disease in Taiwan

It is estimated that rare diseases account for approximately five percent of health issues in Taiwan.

Dr. Tsai Shih-fen and his team of researchers tested WGS on 139 patients and members of their immediate family as part of a four-year project. The team was able to make a diagnosis in sixty-three percent of patients tested.

Their research project analyzes patients with epilepsy, immune-system deficiencies, hearing, and speech-related problems, Rett syndrome, and spinocerebellar ataxia (a genetic disease.)

The NHRI and whole genome sequencing deliver promise and renewed hope to thousands of rare disease patients.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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