source「自由時報」

《Mater Lecture》Niu, Dau-Ming: Whole Genome Sequencing effectively prevent cancer and sudden death

2022/02/10 09:55

Dr. Niu Dau-Ming, head of the Department of Pediatrics at Taipei Veterans General Hospital, pointed out that genetic sequencing analysis at the hospital can identify hidden diseases in individuals, thus avoiding sudden death tragedies and cancer. (Photo by Lin Ji-hua, reporter)

"Niu Dau-Ming is the Director of the Department of Pediatrics at Taipei Veterans General Hospital. He holds a medical doctorate from National Yang-Ming University. He received the Medical Dedication Award in 2021 and the SNQ Gold Award from the Taiwan Youth Society in 2020."

Whole genome sequencing now takes only 3 days.

Whole genome sequencing is the decoding of all of our genes, from beginning to end. This field has made significant progress. When the US began doing whole genome sequencing more than a decade ago, it took 10 years and cost $100 million to complete sequencing for one person. Nowadays, with technological advancements, it takes around 3 days and costs around NT$30,000 to NT$50,000 to decode the full genome of a person.

Whole genome sequencing is actually the foundation of precision medicine. In the future, all medical care will need to be combined with whole genome sequencing, whether it's analyzing a person's physical constitution, preventing diseases, or providing precise drug treatments. Genes are an integral part of these processes, and with the advancement of technology, these genetic information will provide you with more accurate health information.

One of the most famous cases is the American actress Angelina Jolie, whose family carries a gene mutation that causes breast cancer. Her mother and sister both died from breast or ovarian cancer. Jolie underwent genetic sequencing and found that she also carried this gene mutation. She then chose to undergo preventative measures by having her breasts, ovaries, and fallopian tubes removed to avoid the occurrence of these cancers. This approach is somewhat aggressive, but there are now standard medical guidelines for individuals with these gene mutations, which specify which tests to undergo at what age, and when to begin interventions to achieve optimal protection with minimal harm.

In Taiwan, there are cases such as the late chairman of Eslite, Wu Qingyou, who only learned that he had Marfan syndrome after emergency surgery to repair a dissected aorta. He continued to suffer from this condition until his untimely death in 2017. His family members also had the same disease, and his son died eight years prior to his own passing from a dissected aorta. Another case is that of the TV personality "Little Ghost" (real name Huang Hongsheng), who died suddenly from a dissected aorta. While the cause of his illness is not clear, through whole-genome sequencing, the key factors leading to his illness can be identified. There are now at least 30 genes known to be related to aortic dissection, and the pathogenesis of this disease is becoming increasingly clear. Some drugs have been proven to slow the progression of the disease. If you know in advance that you carry relevant gene mutations, you can use medication to delay the progression of the disease, or regularly visit the cardiology department for follow-up examinations and early intervention to prevent sudden death.

Previously, a TV personality named Gao Yixiang passed away suddenly while participating in a physical fitness program in China, and it is suspected that he may have had a genetic mutation with a congenital arrhythmia. We often see news reports of elementary school students dying while running at school, or previously healthy individuals suddenly dying while participating in marathon races. In fact, many of these individuals may have a congenital arrhythmia, as this condition is present in many apparently healthy individuals. Conservatively estimating, at least 1 in 2,500 people carry this type of genetic mutation. The UK estimates that at least 620,000 individuals in their country carry genetic mutations related to arrhythmias. If these individuals can undergo genetic sequencing and know their genetic predisposition, they can take preventive measures such as taking medication or avoiding vigorous exercise to prevent sudden death and avoid causing grief for their families.

Taipei Veterans General Hospital now has the technology to not only sequence the entire genome, but also has established an excellent automatic gene analysis system. This system can quickly analyze hidden diseases and analyze an individual's constitution, including which medications may produce adverse effects. For example, some people may suffer hearing loss after taking specific antibiotics. If your genetic sequence shows that you are susceptible to such side effects, alternative antibiotics can be used instead. Some individuals have poor folate metabolism, which can lead to stroke and cardiovascular disease, but this can be completely improved with sufficient folate supplementation. Furthermore, some individuals may develop skin ulcers or blood disorders after taking certain medications, but if their genetic predisposition is identified early, the use of these medications can be avoided to prevent serious side effects.

As time progresses, more and more information related to genetics will become available and clearer. Taipei Veterans General Hospital has established this automated gene analysis system, which will be further enhanced with the application of artificial intelligence (AI). Through AI learning, the system can continuously update itself with the latest information and re-analyze an individual's genome. If any new issues that require attention are discovered, automatic alerts will be generated. With continuous updates, individuals can become more familiar with their own genetics and constitution, and physicians can make better clinical and medication-related decisions. We hope that in the future, the system can integrate precision and intelligent medicine to achieve personalized precision medicine, benefiting all Taiwanese people.

(Photography, organization/reporter Lin Jihua, Liu Yanchen planned the interview/reporter Ou Xiangyi)