科技部新聞稿

一滴血精準篩檢聽損兒

日期：109年8月13日

發稿單位：生命科學研究發展司

聯絡人：李慧欣博士

電話：(02)2737-7461

E-mail：hhlee@nstc.gov.tw

科技部配合「5+2產業創新方案」，自106年起推動「建立以婦幼醫學為主軸的精準醫療專案計畫(106-109)」，透過精準醫療技術及模式，照護整體婦幼健康。根據統計每1000個新生兒中就有3-5個人罹患先天性聽損，以往多在聽力明顯異常，甚至到兒童語言發展與理解能力落後時，才到門診進行診斷與治療，往往已錯過了黃金治療時機，造成兒童不可逆的發展障礙。臺北榮總牛道明醫師團隊在科技部的支持下，與國家衛生研究院共同合作，配合衛生福利部國民健康署(國健署)的新生兒聽力篩檢計畫，利用一滴血的基因檢測方式，優化先天性聽損快速篩檢模式，可在7日內完成初步的診斷，並及時給予適當的治療，效率已超越世界大多數一流醫學中心的水準。

國健署自2012年起開始進行全國性新生兒聽力篩檢計畫，由於目前聽力篩檢流程缺乏其他臨床輔助指標，導致新生兒初篩陽性個案轉介率偏高，因此如何導入精準醫療的模式，即早鑑定出帶有先天性聽損危險因子的高危險群，加速確診的效率與準確性，發展快速診斷與新式治療技術，除可讓聽損兒盡早接受治療與復健，並提供個人化新式治療方式，是目前臨床上急需努力的目標。臺北榮總牛道明醫師團隊在科技部「建立以婦幼醫學為主軸的精準醫療專案計畫」的支持下，與國家衛生研究院共同合作，配合國健署的新生兒聽力篩檢計畫，針對政府所執行的新生兒聽力篩檢之診斷及確診的流程進行優化，對出院前進行新生兒聽力篩檢未通過、極度早產兒、或急重症之新生兒個案，利用「唾液病毒核苷酸快速鑑定技術平台」及「多功能核酸質譜分析平台」，進行先天性聽損高風險因子「先天性感染(巨細胞病毒與弓漿蟲)」與「聽損基因變異」的快速篩檢，平均可於出生後7天初步確認是否罹患先天性聽損，大幅超前國健署「3個月內確診，6個月治療」的建議期程；並可針對導致聽損的成因，如先天性感染即早提供適當的藥物治療，以避免不可逆的傷害；或依據聽損基因突變位點的特徵，加速評估配戴助聽器或人工電子耳的流程，把握兒童聽損治療與聽力發展的黃金時機。

臺北榮總牛醫師團隊也和陽明大學腦科所、臺大醫學院及哈佛大學醫學院進行跨國合作，針對臺灣好發的聽損基因變異點位進行幹細胞基因治療研究，此外，也在聽損動物模型中進行基因治療，皆獲得了很好的治療成效，期望在不久的將來就可以正式運用在臨床治療上。

在當前全球精準醫療發展趨勢下，未來4年科技部將跨部會推動「臺灣精準健康戰略產業發展方案」，帶動精準健康產業發展，利用全基因檢測不僅可以幫助遺傳性疾病的診斷外，也可應用於先天體質上的評估，建立符合自身的健康管理方式，即早預防即早治療，讓制訂個人化的精準醫療不再那麼遙不可及。

研究成果聯絡人

牛道明主治醫師 Dau-Ming Niu, M.D., Ph.D

臺北榮民總醫院兒童醫學部主任

聯絡電話(公)：02-28712121 ext.8486/8488

電子郵件信箱：dmniu1111@yahoo.com.tw

Press Release

August 13, 2020

A high throughput screening model done within 7 days by using a single drop of blood for inherited hearing loss

To act in concert with the “5+2 Industrial Innovation Plan”, Ministry of Science and Technology promoted a specific project plan “Application of precision medicine to enhance maternal-fetal healthcare (106-109)” since 2017, which is to take care of overall maternal and child health through precise medical technology. According to statistics of government, inherited hearing loss is one of the most common congenital diseases. The incidence of congenital deafness is around 3 to 5 newborn per one thousand, and parents usually didn’t notice the hearing issues until kids showed obviously delayed cognitive and language skills. Therefore, the best timing for treatment is always missed, leading to the irreversible damages on language and related nerve system development.  Hence, under the support of Ministry of Science and Technology and the coordinate of neonatal hearing screening program from the Health Promotion Administration of the Ministry of Health and Welfare, Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital had established and optimized a high throughput screening model for inherited hearing loss. The screening can be done within 7 days by using a single drop of blood. This facilitates us to accomplish preliminary diagnosis and provide proper treatments rapidly. Our effectiveness is surpassing over most of the leading medical centers around the world.

Since 2012, the Health Promotion Administration of the Ministry of Health and Welfare has started a subsidy program for neonatal hearing screening. However, due to the lack of other clinical auxiliary indicators, the current false positive is way higher than the true percentage of babies with hearing loss, and the cases who failed the hearing screening needs to be referred to hospitals for confirmatory tests. Hence, how to implant a system of precision medicine that can identify and diagnose the high-risk babies more efficiently, as well as the innovation of rapid diagnosis and novel personalized medicine for inherited hearing loss are unmet medical needs. With the support of the grant “Application of precision medicine to enhance maternal-fetal healthcare” from Ministry of Science and Technology and the coordinate of neonatal hearing screening from the Health Promotion Administration of the Ministry of Health and Welfare, Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital sought to optimize the procedures of the newborn hearing screening and confirmatory tests. For  those with high risk factors of congenital hearing loss including newborns who fails hearing screening, babies who are born extremely premature or babies who requires intensive care, “congenital infection of cytomegalovirus (CMV) and Toxoplasma” and “genetic deafness” can be rapidly screened through using “saliva high throughput detection platform” and “MassARRAY MALDI-TOF Spectrometry analysis platform”. This system will speed up the diagnosis of high-risk groups and improve the accuracy and timeliness of diagnosis. Newborns will be confirmed for whether their hearing loss is due to congenital infection or genetic defects within 7 days. This is significantly much shorter than the recommendation of from Health Promotion Administration of the Ministry of Health and Welfare that babies should “be diagnosed by 3 months of age, and be intervened by 6 months of age”. This can greatly help to catch the “Golden treatment period”. Moreover, we will be able to treat the cause of hearing loss, such as provide proper antimicrobial treatment for babies with congenital infection to avoid irreversible damages. The diagnosis results can also help accelerate the evaluation procedures of wearing hearing aids or cochlear implants according to the different natures of the genetic mutations.

Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital had also collaborated with the Institute of Brain Science of National Yang-Ming University, National Taiwan University College of Medicine and Harvard Medical School. Promising results in the gene therapy research on some of the genetic deafness-related hot spots using induced pluripotent stem cell (iPSC) model and mice model had been achieved through this collaboration. We are planning to utilize these preclinical results to clinical use in the near future.

Under the Global development trend of precision medicine, in order to drive the development of precision health industry, Ministry of Science and Technology will be promoting an inter-ministerial project of “Taiwan Precision Health Strategy Development Plan” in the next 4 years. The usage of whole genome sequencing not only can facilitate the diagnosis of inherited disease, it can also be used to evaluate genetic constitution and set up health management according to one’s personal need. Early prevention, early treatment and “Personalized Preventive Medicine” will not be a dream but can really come true in the near future.

Author Information:

Dau-Ming Niu, M.D., Ph.D

    Professor Dau-Ming Niu, the chairman of the Department of Pediatrics, Taipei Veterans General Hospital, is also a professor in the Institute of Clinical Medicine, National Yang-Ming University. For more than 20 years, professor Niu has devoted to the treatment care and clinical research of rare genetic disease. Moreover, he had largely contributed on social welfare and medical service. Because of these, he had received extensive trust from patients and their relatives. He had achieved outstanding and fruitful results in the academic research field, which were admired by numerous experts and scholars around the world. The fantastic work of Dr. Niu had accomplished a lot of “number one” in the medical history of rare diseases in Taiwan. Recently, Dr, Niu had been energetic in developing “personal precision medicine” by using next generation sequencing and artificial intelligence big data analysis to facilitate the rapid diagnosis of inherited disease and accelerate the development of the research and clinical application of gene therapy. From these, he is looking forward to serve and help more inherited disease patients.

Media Contact

Dr. Dau-Ming Niu

Department of Pediatrics, Taipei Veterans General Hospital

TEL: 02-28712121 ext.8486/8488

Email: dmniu1111@yahoo.com.tw

Dr. Hui-Hsin Lee

Department of Life Sciences, Ministry of Science and Technology

TEL: 02-27377461

Email: hhlee@nstc.gov.tw