次世代定序技術於台灣與蒙古聽損基因研究之應用與發現

Abstract

全球每1000名新生兒就有2名新生兒有聽損狀況，此篇研究統計2022年至2024年間，針對460位台灣個案(含422位聽損個案及38位聽力正常個案)進行聽損基因檢測的成果與發現，另外選取101個蒙古個案(含97位聽損個案及4位聽力正常個案)做聽損基因的研究，並比較台灣與蒙古人之間聽損基因的差異，最後再討論遺傳諮詢對於聽損次世代基因定序的幫助及必要性。 此研究針對台灣422位聽損個案進行次世代定序基因篩檢，基因確診率為43.8%，基因確診人數最多的基因為GJB2，佔59%，其次為SLC26A4和MYO15A。研究團隊也依據近年來的統計結果，更新了聽損次世代定序目標基因變異檢測-小範圍基因名單，預計能提高致病變異的檢出率。 蒙古97位聽損個案進行次世代定序基因篩檢，基因確診率為43.2 %，確診人數最多的基因為SLC26A4，再來為GJB2，與先前研究結果順序對調，而且熱門變異位點(Hotspot)也不盡相同。研究中可以看出台灣人與蒙古人之間聽損基因的差異，深受地理環境及歷史因素影響，從而發展出屬於各自族群的聽損基因光譜。 隨著基因檢測的普及，遺傳諮詢近年逐漸被重視，不再只是給予一張報告了事，而應該從檢驗前的諮詢，檢驗中的分析，到檢驗後的報告解釋都要完整提供，本研究案提供多個諮詢範例來解釋遺傳諮詢的作用及重要性。 次世代定序檢測為許多遺傳性聽損個案找到造成聽損原因，但仍有其侷限之處，未來再針對未基因確診個案做進一步分析，以期找到致病原因。

Two out of every 1,000 newborns in the world have hearing loss. This study counted the results and findings of hearing loss gene testing on 460 Taiwanese cases (including 422 hearing loss cases and 38 normal hearing cases) from 2022 to 2024. In addition, 101 Mongolian cases (including 97 hearing loss cases and 4 normal hearing cases) were selected for hearing loss gene research, and the differences in hearing loss genes between Taiwanese and Mongolians were compared. Finally, the help and necessity of genetic counseling for next-generation gene sequencing of hearing loss were discussed. This study conducted next-generation sequencing gene screening on 422 hearing loss cases in Taiwan, with a gene diagnosis rate of 43.8%. The gene with the most confirmed cases was GJB2, accounting for 59%, followed by SLC26A4 and MYO15A. The research team also updated the small-scale gene list for hearing loss next-generation sequencing target gene variation detection based on recent statistical results, which is expected to increase the detection rate of pathogenic variation. 97 hearing loss cases in Mongolia were screened by next generation sequencing, and the gene diagnosis rate was 43.2%. The gene with the most confirmed cases was SLC26A4, followed by GJB2, which was reversed from the previous research results, and the hot spots were also different. The study showed that the difference in hearing loss genes between Taiwanese and Mongolians was deeply influenced by geographical environment and historical factors, thus developing hearing loss gene spectra belonging to their respective ethnic groups. With the popularity of genetic testing, genetic counseling has gradually been valued in recent years. It is no longer just a report, but should be fully provided from pre-test consultation, analysis during the test, to post-test report interpretation. This study provides multiple counseling examples to explain the role and importance of genetic counseling. Next-generation sequencing has found the cause of hearing loss for many cases of hereditary hearing loss, but it still has its limitations. In the future, further analysis will be conducted on undiagnosed cases in order to find the cause of the disease.