2019/7/6 NHRI National Sequencing Rare Disease Research Project Press Conference Speech

This is the speech draft for the patient and family sharing session at the National Precision Medicine Sequencing Rare Disease Research Network outcomes press conference, held at The Place Taipei in the Nangang Software Park.

Distinguished guests, members of the press, hello everyone. I am very honored to be here to share my experience of participating in the national sequencing rare disease research project.

I have congenital hearing impairment. I recently graduated from medical school and will soon enter the hospital as an undifferentiated PGY resident.

The current National Health Insurance actually provides many routine screenings for newborns, such as genetic diseases, hearing screenings, and so forth.

Unfortunately, in the era I was born, the benefit of hearing screening did not yet exist, so my hearing impairment was only discovered when I was around four or five years old.

From a medical perspective, the later a hearing impairment is discovered, the more detrimental it is to language development. So later, around 1995,

the promotion of routine newborn hearing screening was introduced, benefiting many hearing-impaired children.

In college, I wanted to lead a colorful life with my classmates, but there were often some inconveniences.

For example, night blindness made it hard to see things at night, my attention would easily drain, and I couldn't quite keep up with my classmates' pace.

The more diseases medical students learn about, the easier it is for them to start suspecting they have some disease, though usually, most of them do not.

Once, during a pathology class, I heard about Alport syndrome, which happens to feature hearing loss as a symptom. I started researching it, but since I had no kidney issues—and the most important characteristic of Alport syndrome is kidney involvement—I ruled it out. However, web articles have related entries, and out of curiosity, I clicked on one for Usher syndrome.

Huh? Why is this so similar? Night blindness, hearing loss, and visual field defects where you can't see things on the periphery.

I started to worry then, because if I were to become a physician in the future, sensory abilities would be very important for career planning and choosing a specialty.

If your vision deteriorates, you definitely cannot go into surgery. My original top choice, diagnostic radiology, requires looking at CT scans and X-rays all day, which would also burden the eyes. But to make a definitive diagnosis of this disease, you can't do it without genetics. I had consulted an ophthalmologist, and the medical certificate could only state "suspected Usher syndrome."

An ophthalmologist can only tell you how much visual field is left based on the current condition of the retina they see, and then follow up yearly to check for deterioration.

Foreign research institutions have established large databases registering sequenced genes of rare diseases, documenting symptoms, presentations, prognoses, and so on. Usher syndrome is no exception.

At that time, I wondered: could genetic sequencing help me understand the future prognosis of my eyes, thereby allowing me to plan my future career path and track the latest therapies?

During my hospital internship, I was very lucky to meet a pediatrician specializing in genetics, Dr. Meng-Che Tsai.

Through his introduction, I joined Professor Yeong-Hao Ching's research team and this genetic sequencing research project. We finally found and confirmed the abnormal gene for my Usher syndrome, and unexpectedly discovered that this is a novel abnormal gene mutation not previously recorded in foreign databases. Perhaps by registering this new abnormal gene and correlating it with symptom presentation, scientists in the future will be given more clues and greater chances to find genetic therapies?

Actually, this sequencing result came out less than a month ago. Compared to the grueling waiting process of the past year or two, it feels like a ray of dawn; a long-awaited question finally has an answer.

This also makes me think that if physicians have better tools in clinical practice, such as immediate genetic diagnostics, they can intervene earlier and be better prepared. Current medicine may be good enough for most people, but we still hope it can become more precise and attentive in caring for everyone. I believe this is also the original intention behind the development of precision medicine.

Finally,

I want to thank the family and friends who accompanied me in my search for answers, Dr. Meng-Che Tsai from NCKU Hospital, Professor Yeong-Hao Ching from Tzu Chi University, and I also thank the National Health Research Institutes' Precision Medicine Flagship Project for their dedication to rare disease genetic research.

Thank you everyone!