{"id":147171,"date":"2023-08-21T07:21:02","date_gmt":"2023-08-21T07:21:02","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/giai-trinh-tu-exome-cai-thien-chan-doan-benh-hiem-gap-o-dai-loan\/"},"modified":"2026-02-23T11:55:45","modified_gmt":"2026-02-23T11:55:45","slug":"exome-sequencing-improves-rare-disease-diagnostics-in-taiwan","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/operations\/sequencing\/exome-sequencing-improves-rare-disease-diagnostics-in-taiwan\/","title":{"rendered":"Gi\u1ea3i tr\u00ecnh t\u1ef1 exome c\u1ea3i thi\u1ec7n ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p \u1edf \u0110\u00e0i Loan"},"content":{"rendered":"

V\u1edbi nh\u1eefng ti\u1ebfn b\u1ed9 li\u00ean t\u1ee5c trong c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 m\u1edbi (next-generation sequencing, NGS), c\u00e1c nh\u00e0 di truy\u1ec1n h\u1ecdc l\u00e2m s\u00e0ng v\u00e0 c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u tr\u00ean to\u00e0n th\u1ebf gi\u1edbi \u0111ang kh\u00e1m ph\u00e1 vai tr\u00f2 c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome trong ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p. \u1ede khu v\u1ef1c Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng, \u0110\u00e0i Loan \u0111ang n\u1ed5i l\u00ean nh\u01b0 m\u1ed9t qu\u1ed1c gia d\u1eabn \u0111\u1ea7u trong vi\u1ec7c \u1ee9ng d\u1ee5ng gi\u1ea3i tr\u00ecnh t\u1ef1 exome cho c\u1ea3 nghi\u00ean c\u1ee9u v\u00e0 c\u00e1c \u1ee9ng d\u1ee5ng l\u00e2m s\u00e0ng.<\/p>\n

So v\u1edbi x\u00e9t nghi\u1ec7m gen ho\u1eb7c b\u1ea3ng \u0111i\u1ec1u khi\u1ec3n \u0111\u01a1n, vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome (whole exome sequencing, WES) h\u1ee9a h\u1eb9n \u0111\u00e1ng k\u1ec3 \u0111\u1ec3 c\u1ea3i thi\u1ec7n t\u1ed1c \u0111\u1ed9 v\u00e0 \u0111\u1ed9 ch\u00ednh x\u00e1c c\u1ee7a ch\u1ea9n \u0111o\u00e1n cho ch\u1ea9n \u0111o\u00e1n di truy\u1ec1n hi\u1ebfm g\u1eb7p. B\u1eb1ng c\u00e1ch kh\u1ea3o s\u00e1t to\u00e0n b\u1ed9 exome \u2014 ph\u1ea7n c\u1ee7a b\u1ed9 gen m\u00e3 h\u00f3a cho protein \u2014 WES l\u00e0m t\u0103ng kh\u1ea3 n\u0103ng \u0111\u1ea1t \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1ed9t c\u00e1ch nhanh ch\u00f3ng v\u00e0 ch\u00ednh x\u00e1c.<\/p>\n

\u0110\u1ed1i v\u1edbi c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p, l\u1ee3i \u00edch c\u1ee7a ch\u1ea9n \u0111o\u00e1n nhanh v\u00e0 ch\u00ednh x\u00e1c lu\u00f4n tr\u1edf n\u00ean r\u00f5 r\u00e0ng h\u01a1n. \u0110\u1ed1i v\u1edbi b\u1ec7nh nh\u00e2n v\u00e0 ng\u01b0\u1eddi ch\u0103m s\u00f3c, vi\u1ec7c n\u00e0y l\u00e0m gi\u1ea3m chi ph\u00ed v\u00e0 nh\u1eefng kh\u00f3 kh\u0103n v\u1ec1 tinh th\u1ea7n li\u00ean quan \u0111\u1ebfn c\u00e1c l\u01b0\u1ee3t ch\u1ea9n \u0111o\u00e1n k\u00e9o d\u00e0i v\u00e0 c\u0169ng m\u1edf ra c\u01a1 h\u1ed9i \u0111i\u1ec1u tr\u1ecb s\u1edbm \u0111\u1ec3 c\u00f3 th\u1ec3 c\u1ee9u m\u1ea1ng ho\u1eb7c c\u1ea3i thi\u1ec7n cu\u1ed9c s\u1ed1ng. \u0110\u1ed1i v\u1edbi c\u00e1c h\u1ec7 th\u1ed1ng ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe, ng\u00e0y c\u00e0ng c\u00f3 nhi\u1ec1u b\u1eb1ng ch\u1ee9ng cho th\u1ea5y r\u1eb1ng ch\u1ea9n \u0111o\u00e1n nhanh th\u00f4ng qua gi\u1ea3i tr\u00ecnh t\u1ef1 gen c\u0169ng c\u00f3 th\u1ec3 gi\u00fap gi\u1ea3m t\u1ed5ng chi ph\u00ed y t\u1ebf [1].<\/p>\n

\u0110\u1ec3 kh\u00e1m ph\u00e1 c\u00e1ch s\u1eed d\u1ee5ng WES \u1edf \u0110\u00e0i Loan, m\u1ed9t qu\u1ed1c gia v\u01b0\u1ee3t tr\u1ed9i trong nhi\u1ec1u kh\u00eda c\u1ea1nh c\u1ee7a nghi\u00ean c\u1ee9u di truy\u1ec1n l\u00e2m s\u00e0ng v\u00e0 ch\u0103m s\u00f3c b\u1ec7nh hi\u1ebfm, Lab Insights g\u1ea7n \u0111\u00e2y \u0111\u00e3 trao \u0111\u1ed5i v\u1edbi m\u1ed9t s\u1ed1 nh\u00e0 di truy\u1ec1n h\u1ecdc h\u00e0ng \u0111\u1ea7u c\u1ee7a \u0110\u00e0i Loan. H\u1ecd \u0111\u1ec1u b\u00e0y t\u1ecf s\u1ef1 \u01b0u ti\u00ean m\u1ea1nh m\u1ebd \u0111\u1ed1i v\u1edbi WES h\u01a1n so v\u1edbi c\u00e1c x\u00e9t nghi\u1ec7m theo h\u1ec7 th\u1ed1ng, nh\u01b0ng c\u0169ng ch\u1ec9 ra nhi\u1ec1u r\u00e0o c\u1ea3n kh\u00e1c nhau v\u1eabn \u0111ang h\u1ea1n ch\u1ebf kh\u1ea3 n\u0103ng ti\u1ebfp c\u1eadn c\u1ee7a m\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n.<\/p>\n

Gi\u1ea3i tr\u00ecnh t\u1ef1 exome th\u01b0\u1eddng xuy\u00ean v\u00e0 nhanh ch\u00f3ng t\u1ea1i NTUH<\/h2>\n

M\u1ed9t c\u01a1 s\u1edf \u0111ang gia t\u0103ng vi\u1ec7c s\u1eed d\u1ee5ng WES l\u00e0 B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan (National Taiwan University Hospital, NTUH), m\u1ed9t b\u1ec7nh vi\u1ec7n c\u00f4ng h\u00e0ng \u0111\u1ea7u t\u1ea1i \u0110\u00e0i B\u1eafc v\u1edbi nhi\u1ec1u kinh nghi\u1ec7m trong l\u0129nh v\u1ef1c y h\u1ecdc b\u1ed9 gen nhi khoa. C\u00e1c c\u01a1 s\u1edf bao g\u1ed3m m\u1ed9t ph\u00f2ng x\u00e9t nghi\u1ec7m NGS th\u1ef1c hi\u1ec7n nghi\u00ean c\u1ee9u v\u00e0 h\u1ed7 tr\u1ee3 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p (\u0111\u00e2y c\u0169ng l\u00e0 m\u1ed9t trong ba trung t\u00e2m s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh ch\u00ednh c\u1ee7a \u0110\u00e0i Loan). Kho\u1ea3ng ba ngh\u00ecn x\u00e9t nghi\u1ec7m WES \u0111\u00e3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1ea1i b\u1ec7nh vi\u1ec7n.<\/p>\n

Theo B\u00e1c s\u0129 Ni-Chung Lee, Gi\u00e1o s\u01b0 L\u00e2m s\u00e0ng t\u1ea1i Khoa Nhi\u2014ng\u01b0\u1eddi d\u1eabn d\u1eaft nhi\u1ec1u d\u1ef1 \u00e1n NGS c\u00f9ng v\u1edbi B\u00e1c s\u0129 Wuh Liang Hwu, B\u00e1c s\u0129 Yin-Hsiu Chien v\u00e0 c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u h\u00e0ng \u0111\u1ea7u kh\u00e1c c\u1ee7a NTUH\u2014m\u1eb7c d\u00f9 NTUH \u0111\u00e3 ph\u00e1t tri\u1ec3n nhi\u1ec1u b\u1ea3ng b\u1ec7nh di truy\u1ec1n trong nh\u1eefng n\u0103m qua, b\u1ec7nh vi\u1ec7n hi\u1ec7n \u0111ang t\u1eebng b\u01b0\u1edbc lo\u1ea1i b\u1ecf m\u1ed9t s\u1ed1 b\u1ea3ng x\u00e9t nghi\u1ec7m n\u00e0y \u0111\u1ec3 chuy\u1ec3n sang WES.<\/p>\n

B\u00e1c s\u0129 Lee cho bi\u1ebft: \u201cTrong ph\u00f2ng x\u00e9t nghi\u1ec7m, ch\u00fang t\u00f4i th\u01b0\u1eddng \u01b0u ti\u00ean th\u1ef1c hi\u1ec7n gi\u1ea3i tr\u00ecnh t\u1ef1 exome v\u00ec ch\u00fang t\u00f4i kh\u00f4ng ph\u1ea3i l\u00fac n\u00e0o c\u0169ng ch\u1eafc ch\u1eafn r\u1eb1ng danh s\u00e1ch c\u00e1c gene \u0111\u01b0\u1ee3c bao ph\u1ee7 trong m\u1ed9t b\u1ea3ng x\u00e9t nghi\u1ec7m l\u00e0 \u0111\u1ee7 to\u00e0n di\u1ec7n \u0111\u1ec3 gi\u1ea3i quy\u1ebft tr\u01b0\u1eddng h\u1ee3p c\u1ee7a b\u1ec7nh nh\u00e2n n\u00e0y.\u201d \u201cCh\u00fang t\u00f4i hy v\u1ecdng t\u00ecm ra c\u00e2u tr\u1ea3 l\u1eddi ch\u1ec9 v\u1edbi m\u1ed9t x\u00e9t nghi\u1ec7m, nh\u01b0ng quy\u1ebft \u0111\u1ecbnh n\u00ean y\u00eau c\u1ea7u x\u00e9t nghi\u1ec7m n\u00e0o v\u1eabn th\u01b0\u1eddng do b\u00e1c s\u0129 l\u00e2m s\u00e0ng \u0111\u01b0a ra sau khi trao \u0111\u1ed5i v\u1edbi b\u1ec7nh nh\u00e2n.\u201d<\/p>\n

B\u00ean c\u1ea1nh x\u00e9t nghi\u1ec7m WES th\u00f4ng th\u01b0\u1eddng, B\u00e1c s\u0129 Lee v\u00e0 c\u00e1c \u0111\u1ed3ng nghi\u1ec7p c\u0169ng \u0111\u00e3 ph\u00e1t tri\u1ec3n m\u1ed9t x\u00e9t nghi\u1ec7m exome b\u1ed9 ba nhanh d\u00e0nh cho tr\u1ebb em c\u1ea7n \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n kh\u1ea9n c\u1ea5p, ch\u1eb3ng h\u1ea1n nh\u01b0 nh\u1eefng tr\u01b0\u1eddng h\u1ee3p ph\u1ea3i v\u00e0o khoa h\u1ed3i s\u1ee9c s\u01a1 sinh ho\u1eb7c h\u1ed3i s\u1ee9c nhi khoa do nguy\u00ean nh\u00e2n ch\u01b0a x\u00e1c \u0111\u1ecbnh. X\u00e9t nghi\u1ec7m n\u00e0y c\u00f3 th\u1eddi gian tr\u1ea3 k\u1ebft qu\u1ea3 kho\u1ea3ng m\u1ed9t tu\u1ea7n (\u0111\u1ed1i v\u1edbi c\u00e1c tr\u01b0\u1eddng h\u1ee3p th\u01b0\u1eddng quy v\u00e0 kh\u00f4ng kh\u1ea9n c\u1ea5p, th\u1eddi gian c\u00f3 th\u1ec3 k\u00e9o d\u00e0i h\u01a1n, kho\u1ea3ng 2\u20133 th\u00e1ng \u0111\u1ec3 \u0111\u1ea3m b\u1ea3o \u0111\u1ee7 th\u1eddi gian cho vi\u1ec7c di\u1ec5n gi\u1ea3i k\u1ebft qu\u1ea3).<\/p>\n

T\u1eeb n\u0103m 2016, nh\u00f3m Di truy\u1ec1n c\u1ee7a NTUH c\u0169ng \u0111\u00e3 ph\u00e1t tri\u1ec3n m\u1ed9t c\u00f4ng c\u1ee5 \u01b0u ti\u00ean bi\u1ebfn th\u1ec3 d\u1ef1a tr\u00ean AI nh\u1eb1m h\u1ed7 tr\u1ee3 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p t\u1eeb WES\/WGS. C\u00f4ng c\u1ee5 n\u00e0y \u0111\u00e3 gi\u00e0nh \u0111\u01b0\u1ee3c m\u1ed9t s\u1ed1 gi\u1ea3i th\u01b0\u1edfng l\u1edbn \u1edf \u0110\u00e0i Loan [2].<\/p>\n

Qu\u1ea3n l\u00fd chi ph\u00ed v\u00e0 c\u1ea3i thi\u1ec7n ph\u00e2n t\u00edch t\u1ea1i VGH<\/h2>\n

T\u1ea1i B\u1ec7nh vi\u1ec7n C\u1ef1u chi\u1ebfn binh (Veterans General Hospital, VGH) \u0110\u00e0i B\u1eafc, m\u1ed9t b\u1ec7nh vi\u1ec7n c\u00f4ng h\u00e0ng \u0111\u1ea7u kh\u00e1c \u1edf \u0110\u00e0i B\u1eafc v\u1edbi danh ti\u1ebfng m\u1ea1nh m\u1ebd trong l\u0129nh v\u1ef1c y h\u1ecdc di truy\u1ec1n nhi khoa, cam k\u1ebft t\u01b0\u01a1ng t\u1ef1 \u0111\u1ed1i v\u1edbi nghi\u00ean c\u1ee9u v\u00e0 \u0111\u1ed5i m\u1edbi \u0111ang th\u00fac \u0111\u1ea9y vi\u1ec7c \u1ee9ng d\u1ee5ng r\u1ed9ng r\u00e3i h\u01a1n gi\u1ea3i tr\u00ecnh t\u1ef1 exome.<\/p>\n

B\u00e1c s\u0129 Dau-Ming Niu, Gi\u00e1m \u0111\u1ed1c Khoa Nhi, Trung t\u00e2m T\u01b0 v\u1ea5n Di truy\u1ec1n v\u00e0 Trung t\u00e2m Nghi\u00ean c\u1ee9u Y t\u1ebf B\u1ec7nh hi\u1ebfm g\u1eb7p t\u1ea1i VGH cho bi\u1ebft: \u201cCh\u00fang t\u00f4i \u0111\u00e3 t\u1eebng s\u1eed d\u1ee5ng c\u00e1c nh\u00f3m m\u1ee5c ti\u00eau nh\u01b0ng b\u00e2y gi\u1edd ch\u00fang t\u00f4i ho\u00e0n to\u00e0n t\u1eeb b\u1ecf c\u00e1ch ti\u1ebfp c\u1eadn n\u00e0y cho to\u00e0n b\u1ed9 exome ho\u1eb7c b\u1ed9 gen.\u201d \u201cChi ph\u00ed v\u1eabn l\u00e0 y\u1ebfu t\u1ed1 \u0111\u1ed1i v\u1edbi m\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n, nh\u01b0ng ch\u00fang t\u00f4i l\u00e0m m\u1ecdi th\u1ee9 c\u00f3 th\u1ec3 \u0111\u1ec3 gi\u1ea3m thi\u1ec3u g\u00e1nh n\u1eb7ng v\u00e0 th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m n\u00e0y c\u00f3 th\u1ec3 ti\u1ebfp c\u1eadn \u0111\u01b0\u1ee3c.\u201d<\/p>\n

L\u00e0 m\u1ed9t trong nh\u1eefng nh\u00e0 nghi\u00ean c\u1ee9u l\u00e2m s\u00e0ng h\u00e0ng \u0111\u1ea7u c\u1ee7a \u0111\u1ea5t n\u01b0\u1edbc, B\u00e1c s\u0129 Niu n\u00f3i \u00f4ng \u0111\u00e3 th\u1ef1c hi\u1ec7n to\u00e0n b\u1ed9 exome ho\u1eb7c gi\u1ea3i tr\u00ecnh t\u1ef1 b\u1ed9 gen h\u01a1n m\u1ed9t ng\u00e0n l\u1ea7n, m\u1ed9t qu\u00e1 tr\u00ecnh bao g\u1ed3m t\u1ea5t c\u1ea3 m\u1ecdi th\u1ee9 t\u1eeb y\u00eau c\u1ea7u x\u00e9t nghi\u1ec7m \u0111\u1ebfn cung c\u1ea5p k\u1ebft qu\u1ea3 v\u00e0 cung c\u1ea5p t\u01b0 v\u1ea5n di truy\u1ec1n c\u1ea7n thi\u1ebft. \u00d4ng n\u00f3i r\u1eb1ng vi\u1ec7c gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3 l\u00e0 t\u01b0\u01a1ng \u0111\u1ed1i d\u1ec5 d\u00e0ng khi ch\u1ea9n \u0111o\u00e1n \u0111\u00e3 r\u00f5 r\u00e0ng, nh\u01b0ng kh\u00f3 kh\u0103n h\u01a1n nhi\u1ec1u trong tr\u01b0\u1eddng h\u1ee3p nguy\u00ean nh\u00e2n kh\u00f4ng r\u00f5 r\u00e0ng.<\/p>\n

\u0110\u1ec3 c\u1ea3i thi\u1ec7n quy tr\u00ecnh di\u1ec5n gi\u1ea3i d\u1eef li\u1ec7u, VGH hi\u1ec7n \u0111ang l\u00e0m vi\u1ec7c v\u1edbi m\u1ed9t c\u00f4ng ty AI b\u00ean ngo\u00e0i \u0111\u1ec3 ph\u00e1t tri\u1ec3n m\u1ed9t n\u1ec1n t\u1ea3ng tin sinh h\u1ecdc ti\u00ean ti\u1ebfn. T\u1ea7m nh\u00ecn c\u1ee7a h\u1ecd l\u00e0 x\u00e2y d\u1ef1ng m\u1ed9t \u201ctr\u1ee3 l\u00fd y h\u1ecdc ch\u00ednh x\u00e1c\u201d to\u00e0n di\u1ec7n, kh\u00f4ng ch\u1ec9 h\u1ed7 tr\u1ee3 ch\u1ea9n \u0111o\u00e1n c\u00e1c b\u1ec7nh di truy\u1ec1n ph\u1ee9c t\u1ea1p m\u00e0 c\u00f2n bao g\u1ed3m c\u00e1c ch\u1ee9c n\u0103ng kh\u00e1c nh\u01b0 d\u01b0\u1ee3c di truy\u1ec1n v\u00e0 t\u1ea7m so\u00e1t ng\u01b0\u1eddi l\u00e0nh mang gen b\u1ec7nh.<\/p>\n

Gi\u1ea3i tr\u00ecnh t\u1ef1 exome cho nghi\u00ean c\u1ee9u b\u1ec7nh \u0111\u1ed9ng kinh t\u1ea1i CGMH<\/h2>\n

Nhi\u1ec1u b\u1ec7nh vi\u1ec7n v\u00e0 ph\u00f2ng kh\u00e1m thu\u1ed9c khu v\u1ef1c t\u01b0 nh\u00e2n \u1edf \u0110\u00e0i Loan c\u0169ng \u0111ang tham gia v\u00e0o nghi\u00ean c\u1ee9u gi\u1ea3i tr\u00ecnh t\u1ef1 exome. M\u1ed9t v\u00ed d\u1ee5 l\u00e0 h\u1ec7 th\u1ed1ng B\u1ec7nh vi\u1ec7n Chang Gung Memorial Hospital (CGMH), m\u1ed9t m\u1ea1ng l\u01b0\u1edbi b\u1ec7nh vi\u1ec7n l\u1edbn v\u1edbi c\u00e1c chi nh\u00e1nh tr\u00ean kh\u1eafp c\u1ea3 n\u01b0\u1edbc, hi\u1ec7n \u0111ang th\u1ef1c hi\u1ec7n m\u1ed9t d\u1ef1 \u00e1n c\u00f9ng v\u1edbi Vi\u1ec7n Nghi\u00ean c\u1ee9u Y t\u1ebf Qu\u1ed1c gia nh\u1eb1m gi\u1ea3i tr\u00ecnh t\u1ef1 exome cho 2.000 b\u1ec7nh nh\u00e2n \u0110\u00e0i Loan m\u1eafc c\u00e1c b\u1ec7nh hi\u1ebfm g\u1eb7p.<\/p>\n

B\u1ec7nh vi\u1ec7n Chang Gung Memorial Hospital Cao H\u00f9ng, m\u1ed9t trung t\u00e2m y t\u1ebf thu\u1ed9c h\u1ec7 th\u1ed1ng CGMH n\u1eb1m t\u1ea1i th\u00e0nh ph\u1ed1 Cao H\u00f9ng \u1edf mi\u1ec1n Nam, c\u0169ng \u0111\u00f3ng vai tr\u00f2 l\u00e0 trung t\u00e2m tuy\u1ec3n ch\u1ecdn b\u1ec7nh nh\u00e2n cho Epi25, m\u1ed9t d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u qu\u1ed1c t\u1ebf t\u1eadp trung v\u00e0o b\u1ec7nh \u0111\u1ed9ng kinh. Theo B\u00e1c s\u0129 Meng-Han Tsai, Gi\u00e1o s\u01b0 ki\u00eam Gi\u00e1m \u0111\u1ed1c Khoa Nghi\u00ean c\u1ee9u Y h\u1ecdc v\u00e0 Ph\u00f2ng th\u00ed nghi\u1ec7m L\u00f5i Genomics & Proteomics c\u1ee7a b\u1ec7nh vi\u1ec7n, \u0111\u00e3 c\u00f3 th\u00eam hai ngh\u00ecn exome \u0111\u01b0\u1ee3c thu th\u1eadp th\u00f4ng qua nghi\u00ean c\u1ee9u n\u00e0y v\u00e0 c\u00e1c d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u kh\u00e1c.<\/p>\n

\u00d4ng nh\u1eadn x\u00e9t: \u201cTr\u01b0\u1edbc \u0111\u00e2y ch\u00fang t\u00f4i d\u00f9ng c\u00e1c b\u1ea3ng x\u00e9t nghi\u1ec7m gen v\u00ec chi ph\u00ed th\u1ea5p h\u01a1n, nh\u01b0ng cu\u1ed1i c\u00f9ng ch\u00fang t\u00f4i nh\u1eadn ra r\u1eb1ng gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome ho\u1eb7c to\u00e0n b\u1ed9 h\u1ec7 gen mang l\u1ea1i hi\u1ec7u qu\u1ea3 t\u1ed1t h\u01a1n r\u1ea5t nhi\u1ec1u.\u201d \u201cC\u00f3 h\u01a1n 400 gen c\u00f3 th\u1ec3 g\u00e2y ra \u0111\u1ed9ng kinh, v\u00e0 kh\u00f4ng ph\u1ea3i m\u1ecdi tr\u01b0\u1eddng h\u1ee3p \u0111\u1ed9ng kinh \u0111\u1ec1u c\u00f3 nguy\u00ean nh\u00e2n di truy\u1ec1n, v\u00ec v\u1eady ch\u00fang t\u00f4i c\u1ea7n r\u1ea5t nhi\u1ec1u th\u00f4ng tin \u0111\u1ec3 hi\u1ec3u \u0111\u01b0\u1ee3c c\u0103n nguy\u00ean c\u1ee7a b\u1ec7nh.\u201d<\/p>\n

L\u00e0 m\u1ed9t chuy\u00ean gia n\u1ed5i ti\u1ebfng trong l\u0129nh v\u1ef1c di truy\u1ec1n h\u1ecdc c\u1ee7a b\u1ec7nh \u0111\u1ed9ng kinh, B\u00e1c s\u0129 Tsai th\u01b0\u1eddng s\u1eed d\u1ee5ng ngu\u1ed3n kinh ph\u00ed nghi\u00ean c\u1ee9u c\u1ee7a m\u00ecnh \u0111\u1ec3 chi tr\u1ea3 cho vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 exome cho b\u1ec7nh nh\u00e2n, v\u00ec chi ph\u00ed v\u1eabn l\u00e0 m\u1ed9t r\u00e0o c\u1ea3n l\u1edbn \u0111\u1ed1i v\u1edbi nhi\u1ec1u ng\u01b0\u1eddi trong m\u00f4 h\u00ecnh t\u1ef1 chi tr\u1ea3. \u00d4ng c\u0169ng l\u01b0u \u00fd r\u1eb1ng nhi\u1ec1u b\u00e1c s\u0129 l\u00e2m s\u00e0ng ch\u01b0a \u0111\u01b0\u1ee3c \u0111\u00e0o t\u1ea1o \u0111\u1ea7y \u0111\u1ee7 v\u1ec1 di\u1ec5n gi\u1ea3i d\u1eef li\u1ec7u di truy\u1ec1n, v\u00e0 r\u1ea5t kh\u00f3 t\u00ecm \u0111\u01b0\u1ee3c c\u00e1c chuy\u00ean gia tin sinh h\u1ecdc gi\u1ecfi \u0111\u1ec3 h\u1ed7 tr\u1ee3 qu\u00e1 tr\u00ecnh ph\u00e2n t\u00edch, nh\u01b0ng \u00f4ng tin r\u1eb1ng t\u00ecnh h\u00ecnh \u0111ang d\u1ea7n \u0111\u01b0\u1ee3c c\u1ea3i thi\u1ec7n.<\/p>\n

T\u01b0\u01a1ng lai c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 exome \u1edf \u0110\u00e0i Loan<\/h2>\n

V\u1edbi m\u1ed9t c\u1ed9ng \u0111\u1ed3ng c\u00e1c chuy\u00ean gia di truy\u1ec1n l\u00e2m s\u00e0ng t\u1eadn t\u00e2m v\u00e0 t\u00edch c\u1ef1c trong c\u1ea3 nghi\u00ean c\u1ee9u l\u1eabn ch\u0103m s\u00f3c b\u1ec7nh nh\u00e2n, \u0110\u00e0i Loan c\u00f3 b\u1ec1 d\u00e0y l\u1ecbch s\u1eed v\u1ec1 s\u1ef1 xu\u1ea5t s\u1eafc v\u00e0 \u0111\u1ed5i m\u1edbi trong ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p [3].\u00a0Khi s\u1ed1 l\u01b0\u1ee3ng x\u00e9t nghi\u1ec7m gi\u1ea3i tr\u00ecnh t\u1ef1 exome t\u0103ng l\u00ean m\u1ed7i n\u0103m, \u0110\u00e0i Loan s\u1ebd ti\u1ebfp t\u1ee5c th\u00fac \u0111\u1ea9y nh\u1eefng ti\u1ebfn b\u1ed9 trong y h\u1ecdc h\u1ec7 gen, t\u1ea1o ra t\u00e1c \u0111\u1ed9ng \u1edf c\u1ea3 t\u1ea7m khu v\u1ef1c v\u00e0 to\u00e0n c\u1ea7u.<\/p>\n

Tuy nhi\u00ean, b\u1ea5t ch\u1ea5p t\u1ea5t c\u1ea3 nh\u1eefng ti\u1ebfn b\u1ed9 v\u00e0 ti\u1ec1m n\u0103ng, vi\u1ec7c ho\u00e0n tr\u1ea3 khu v\u1ef1c c\u00f4ng cho WES v\u1eabn c\u00f2n h\u1ea1n ch\u1ebf \u1edf \u0110\u00e0i Loan. M\u1eb7c d\u00f9 nhi\u1ec1u b\u1ec7nh vi\u1ec7n \u0111\u1ecba ph\u01b0\u01a1ng \u0111\u01b0a ra m\u1ee9c gi\u00e1 c\u1ea1nh tranh v\u00e0 c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u n\u1ed7 l\u1ef1c xin t\u00e0i tr\u1ee3 \u0111\u1ec3 h\u1ed7 tr\u1ee3 chi ph\u00ed gi\u1ea3i tr\u00ecnh t\u1ef1, chi ph\u00ed v\u1eabn l\u00e0 r\u00e0o c\u1ea3n l\u1edbn \u0111\u1ed1i v\u1edbi m\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n, \u0111\u1eb7c bi\u1ec7t l\u00e0 nh\u1eefng ng\u01b0\u1eddi \u0111\u1ebfn t\u1eeb c\u00e1c h\u1ed9 gia \u0111\u00ecnh c\u00f3 ngu\u1ed3n l\u1ef1c h\u1ea1n ch\u1ebf.<\/p>\n

Kh\u00f4ng gi\u1ed1ng nh\u01b0 nhi\u1ec1u qu\u1ed1c gia kh\u00e1c \u1edf ch\u00e2u \u00c1 v\u00e0 tr\u00ean th\u1ebf gi\u1edbi, \u0110\u00e0i Loan v\u1eabn ch\u01b0a tri\u1ec3n khai b\u1ea5t k\u1ef3 nghi\u00ean c\u1ee9u quy m\u00f4 l\u1edbn n\u00e0o nh\u1eb1m kh\u00e1m ph\u00e1 vai tr\u00f2 c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome ho\u1eb7c to\u00e0n b\u1ed9 h\u1ec7 gen trong s\u00e0ng l\u1ecdc s\u01a1 sinh. M\u1ed9t s\u1ed1 nh\u00e0 nghi\u00ean c\u1ee9u \u0111ang t\u00edch c\u1ef1c l\u00e0m vi\u1ec7c v\u1edbi c\u00e1c nh\u00e0 ho\u1ea1ch \u0111\u1ecbnh ch\u00ednh s\u00e1ch y t\u1ebf \u0111\u1ec3 t\u00ecm ki\u1ebfm c\u01a1 h\u1ed9i x\u00e2y d\u1ef1ng c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh trong n\u01b0\u1edbc, nh\u01b0ng nh\u1eefng lo ng\u1ea1i v\u1ec1 chi ph\u00ed \u2013 hi\u1ec7u qu\u1ea3 v\u00e0 c\u00e1c v\u1ea5n \u0111\u1ec1 \u0111\u1ea1o \u0111\u1ee9c sinh h\u1ecdc li\u00ean quan \u0111\u1ebfn c\u00e1ch ti\u1ebfp c\u1eadn n\u00e0y v\u1eabn t\u1ea1o ra nhi\u1ec1u r\u00e0o c\u1ea3n.<\/p>\n

Tin vui l\u00e0 \u0110\u00e0i Loan c\u00f3 m\u1ed9t h\u1ec7 th\u1ed1ng ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe m\u1ea1nh m\u1ebd v\u00e0 m\u1ed9t th\u1ecb tr\u01b0\u1eddng chi ti\u00eau tr\u1ef1c ti\u1ebfp cho c\u00f4ng ngh\u1ec7 y t\u1ebf r\u1ea5t ph\u00e1t tri\u1ec3n. H\u01a1n n\u1eefa, c\u00e1c ngu\u1ed3n t\u00e0i tr\u1ee3 thay th\u1ebf cho ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm, ch\u1eb3ng h\u1ea1n nh\u01b0 t\u1eeb c\u00e1c t\u1ed5 ch\u1ee9c phi ch\u00ednh ph\u1ee7 nh\u01b0 Qu\u1ef9 v\u1ec1 c\u00e1c b\u1ec7nh hi\u1ebfm g\u1eb7p \u1edf \u0110\u00e0i Loan, c\u0169ng s\u1eb5n c\u00f3, m\u1eb7c d\u00f9 h\u1ea7u h\u1ebft c\u00e1c chuy\u00ean gia \u0111\u1ec1u \u0111\u1ed3ng \u00fd r\u1eb1ng ch\u00fang v\u1eabn ch\u01b0a \u0111\u1ee7 \u0111\u1ec3 \u0111\u00e1p \u1ee9ng nhu c\u1ea7u l\u00e2m s\u00e0ng.<\/p>\n

Nh\u00ecn chung, khi so s\u00e1nh v\u1edbi c\u00e1c qu\u1ed1c gia kh\u00e1c trong khu v\u1ef1c Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng, \u0110\u00e0i Loan \u0111ang l\u00e0m r\u1ea5t t\u1ed1t trong vi\u1ec7c \u0111\u1ea3m b\u1ea3o ng\u01b0\u1eddi d\u00e2n \u0111\u01b0\u1ee3c ti\u1ebfp c\u1eadn v\u1edbi c\u00e1c d\u1ecbch v\u1ee5 ch\u1ea9n \u0111o\u00e1n ch\u1ea5t l\u01b0\u1ee3ng cao cho c\u00e1c b\u1ec7nh hi\u1ebfm. M\u1eb7c d\u00f9 kh\u1ea3 n\u0103ng ti\u1ebfp c\u1eadn WES hi\u1ec7n nay v\u1eabn ch\u01b0a ho\u00e0n h\u1ea3o, nh\u01b0ng c\u00f3 th\u1ec3 k\u1ef3 v\u1ecdng s\u1ebd c\u00f3 th\u00eam nhi\u1ec1u ti\u1ebfn b\u1ed9 trong nh\u1eefng n\u0103m t\u1edbi.<\/p>\n

B\u00e0i vi\u1ebft n\u00e0y \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n b\u1edfi Will Greene, Gi\u00e1m \u0111\u1ed1c G\u1eafn k\u1ebft Y t\u1ebf t\u1ea1i Roche Diagnostics Khu v\u1ef1c Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng v\u00e0 l\u00e0 \u0111\u1ed3ng l\u00e3nh \u0111\u1ea1o c\u1ee7a D\u1ef1 \u00e1n Strongbow, m\u1ed9t s\u00e1ng ki\u1ebfn nh\u1eb1m th\u00fac \u0111\u1ea9y c\u00e1c th\u1ef1c h\u00e0nh t\u1ed1t nh\u1ea5t trong s\u00e0ng l\u1ecdc s\u01a1 sinh v\u00e0 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm th\u00f4ng qua n\u1ed9i dung gi\u00e1o d\u1ee5c v\u00e0 x\u00e2y d\u1ef1ng c\u1ed9ng \u0111\u1ed3ng. Truy c\u1eadp trang Kh\u00e1m s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh c\u1ee7a ch\u00fang t\u00f4i \u0111\u1ec3 xem th\u00eam c\u00e1c b\u00e0i vi\u1ebft v\u00e0 video v\u1ec1 ch\u1ee7 \u0111\u1ec1 n\u00e0y.<\/a><\/em><\/p>\n

Nghi\u00ean c\u1ee9u v\u00e0 vi\u1ebft b\u00e0i b\u00e1o \u0111\u01b0\u1ee3c h\u1ed7 tr\u1ee3 b\u1edfi Patrick Danoy, Qu\u1ea3n l\u00fd kinh doanh APAC (Chu\u1ea9n b\u1ecb m\u1eabu gi\u1ea3i tr\u00ecnh t\u1ef1) t\u1ea1i Roche Diagnostics Ch\u00e2u \u00c1 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng; Alvin Hsiang, Nh\u00e0 ph\u00e2n t\u00edch gi\u00e1 tr\u1ecb ch\u1ea9n \u0111o\u00e1n t\u1ea1i Roche Diagnostics \u0110\u00e0i Loan; v\u00e0 Sasa Sha, Tr\u01b0\u1edfng nh\u00f3m gi\u00e1 tr\u1ecb ch\u1ea9n \u0111o\u00e1n t\u1ea1i Roche Diagnostics \u0110\u00e0i Loan.\u00a0<\/em><\/p>\n

T\u00e0i li\u1ec7u tham kh\u1ea3o:<\/em><\/p>\n

[1]<\/a>\u00a0Dimmock, D. et al. (2021) \u2018Project Baby Bear: Rapid Precision Care incorporating rwgs in 5 California Children\u2019s hospitals demonstrates improved clinical outcomes and reduced costs of care\u2019, The American Journal of Human Genetics, 108(7), pp. 1231\u20131238. doi:10.1016\/j.ajhg.2021.05.008.<\/p>\n

[2]<\/a>\u00a0AI_Variant Prioritizer – a smart variant prioritization system. National Taiwan University Hospital. Truy c\u1eadp:\u00a0https:\/\/www.ntuh.gov.tw\/SH\/News.action?q_type=A01&q_itemCode=13057&agroup=a<\/p>\n

[3]<\/a>\u00a0Chien, Y.-H. and Hwu, W.-L. (2023) \u2018The modern face of newborn screening\u2019, Pediatrics & Neonatology, 64. doi:10.1016\/j.pedneo.2022.11.001.<\/p>\n","protected":false},"excerpt":{"rendered":"

V\u1edbi nh\u1eefng ti\u1ebfn b\u1ed9 li\u00ean t\u1ee5c trong c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 m\u1edbi (next-generation sequencing, NGS), c\u00e1c nh\u00e0 di truy\u1ec1n h\u1ecdc l\u00e2m s\u00e0ng v\u00e0 c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u tr\u00ean to\u00e0n th\u1ebf gi\u1edbi \u0111ang kh\u00e1m ph\u00e1 vai tr\u00f2 c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome trong ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p. \u1ede khu v\u1ef1c […]<\/p>\n","protected":false},"author":1,"featured_media":85798,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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