{"id":147318,"date":"2020-08-27T10:20:38","date_gmt":"2020-08-27T10:20:38","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/giai-trinh-tu-gen-the-he-tiep-theo-ngs-thuc-day-ung-thu-hoc-chinh-xac-tai-singapore\/"},"modified":"2026-02-23T07:58:07","modified_gmt":"2026-02-23T07:58:07","slug":"next-generation-sequencing-ngs-drives-precision-oncology-in-singapore","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/operations\/sequencing\/next-generation-sequencing-ngs-drives-precision-oncology-in-singapore\/","title":{"rendered":"Gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 ti\u1ebfp theo (NGS) th\u00fac \u0111\u1ea9y ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c t\u1ea1i Singapore"},"content":{"rendered":"

Gi\u1edbi thi\u1ec7u – NGS v\u00e0 ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c t\u1ea1i Singapore<\/h2>\n

B\u00e0i vi\u1ebft n\u00e0y l\u00e0 m\u1ed9t ph\u1ea7n c\u1ee7a m\u1ed9t lo\u1ea1t c\u00e1c nghi\u00ean c\u1ee9u tr\u01b0\u1eddng h\u1ee3p v\u1ec1 vi\u1ec7c s\u1eed d\u1ee5ng NGS v\u00e0 c\u00e1c c\u00f4ng c\u1ee5 k\u1ef9 thu\u1eadt s\u1ed1 \u0111\u1ec3 th\u00fac \u0111\u1ea9y ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c t\u1ea1i Singapore. H\u00e3y cu\u1ed9n \u0111\u1ebfn cu\u1ed1i b\u00e0i vi\u1ebft \u0111\u1ec3 c\u00f3 danh s\u00e1ch \u0111\u1ea7y \u0111\u1ee7 v\u1ec1 lo\u1ea1t nghi\u00ean c\u1ee9u. Trong n\u1eeda th\u1ebf k\u1ef7 qua, nghi\u00ean c\u1ee9u v\u1ec1 s\u1ef1 thay \u0111\u1ed5i gen v\u00e0 ph\u00e2n t\u1eed \u0111\u00e3 chuy\u1ec3n m\u00ecnh b\u1eb1ng vi\u1ec7c thay th\u1ebf ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 gen Sanger c\u1ee7a c\u00e1c m\u1ea3nh gen \u0111\u01a1n l\u1ebb b\u1eb1ng ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 ti\u1ebfp theo (NGS) cho to\u00e0n b\u1ed9 b\u1ed9 gen. \u0110i\u1ec1u khi\u1ebfn NGS h\u1ea5p d\u1eabn l\u00e0 ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 th\u1ec3 t\u1ea1o ra th\u00f4ng tin v\u1ec1 h\u00e0ng tr\u0103m ng\u00e0n \u0111\u1ed9t bi\u1ebfn gen v\u00e0 bi\u1ebfn th\u1ec3 gen ch\u1ec9 trong m\u1ed9t x\u00e9t nghi\u1ec7m duy nh\u1ea5t. M\u1ee9c \u0111\u1ed9 th\u00f4ng tin di truy\u1ec1n ch\u01b0a t\u1eebng c\u00f3 n\u00e0y \u0111\u00e3 gi\u00fap th\u00fac \u0111\u1ea9y ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c v\u00e0 c\u00e1 nh\u00e2n h\u00f3a ho\u1ea1t \u0111\u1ed9ng ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe trong t\u01b0\u01a1ng lai. Nh\u01b0ng ch\u00ednh x\u00e1c NGS l\u00e0 g\u00ec v\u00e0 ph\u01b0\u01a1ng ph\u00e1p n\u00e0y \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng nh\u01b0 th\u1ebf n\u00e0o cho ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c \u1edf Ch\u00e2u \u00c1 ng\u00e0y nay? Nh\u00f3m nghi\u00ean c\u1ee9u Lab Insights g\u1ea7n \u0111\u00e2y \u0111\u00e3 trao \u0111\u1ed5i v\u1edbi Ti\u1ebfn s\u0129 David Tan, chuy\u00ean gia t\u01b0 v\u1ea5n ung th\u01b0 c\u1ee7a Khoa Y thu\u1ed9c National University of Singapore v\u00e0 National University Cancer Institute, Singapore (NCIS)\u00a0\u0111\u1ec3 hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 ti\u1ec1m n\u0103ng c\u1ee7a ph\u01b0\u01a1ng ph\u00e1p n\u00e0y trong m\u1ed9t khu v\u1ef1c m\u1edbi b\u1eaft \u0111\u1ea7u b\u00e9n r\u1ec5 vi\u1ec7c \u00e1p d\u1ee5ng NGS. NGS d\u00f9ng \u0111\u1ec3 ch\u1ec9 ph\u1ea1m vi c\u1ee7a c\u00e1c c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u00f4ng l\u01b0\u1ee3ng cao c\u00f3 th\u1ec3 \u0111\u1ecdc h\u00e0ng tri\u1ec7u tr\u00ecnh t\u1ef1 ADN v\u00e0 ARN c\u00f9ng m\u1ed9t l\u00fac. Trong ung th\u01b0 h\u1ecdc, NGS cung c\u1ea5p b\u1eb1ng ch\u1ee9ng di truy\u1ec1n quan tr\u1ecdng v\u00e0 th\u00f4ng tin v\u1ec1 b\u1ed9 gen kh\u1ed1i u v\u00e0 h\u1ed3 s\u01a1 phi\u00ean m\u00e3 c\u1ee7a m\u1ed7i b\u1ec7nh nh\u00e2n. NGS c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng cho c\u1ea3 m\u1eabu m\u00f4 v\u00e0 m\u00e1u v\u00e0 n\u00ean \u0111\u01b0\u1ee3c coi l\u00e0 th\u00e0nh ph\u1ea7n c\u1ed1t l\u00f5i c\u1ee7a b\u1ea5t k\u1ef3 b\u1ed9 c\u00f4ng c\u1ee5 y h\u1ecdc ung th\u01b0 n\u00e0o. NGS d\u1ef1a tr\u00ean DNA b\u1eaft \u0111\u1ea7u v\u1edbi s\u1ef1 ph\u00e2n m\u1ea3nh DNA, ti\u1ebfp theo l\u00e0 khu\u1ebfch \u0111\u1ea1i c\u00e1c m\u1ea3nh \u0111\u1ec3 t\u1ea1o ra c\u00e1c th\u01b0 vi\u1ec7n tr\u1ea3i qua nhi\u1ec1u chu k\u1ef3 \u0111\u1ed3ng th\u1eddi c\u1ee7a qu\u00e1 tr\u00ecnh gi\u1ea3i tr\u00ecnh t\u1ef1 gen. M\u1ed9t l\u01b0\u1ee3ng l\u1edbn d\u1eef li\u1ec7u th\u00f4 \u0111\u01b0\u1ee3c t\u1ea1o ra, ph\u00e2n t\u00edch v\u00e0 so s\u00e1nh v\u1edbi b\u1ed9 gen ng\u01b0\u1eddi tham chi\u1ebfu \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh c\u00e1c bi\u1ebfn th\u1ec3 ho\u1eb7c \u0111\u1ed9t bi\u1ebfn. Kh\u00f4ng gi\u1ed1ng nh\u01b0 gi\u1ea3i tr\u00ecnh t\u1ef1 gen Sanger th\u00f4ng th\u01b0\u1eddng, c\u00e1c c\u00f4ng ngh\u1ec7 NGS c\u0169 h\u01a1n c\u00f3 th\u1ec3 \u0111\u1ecdc c\u00e1c tr\u00ecnh t\u1ef1 ADN l\u1edbn h\u01a1n nhanh ch\u00f3ng nh\u01b0ng t\u1ea1o ra d\u1eef li\u1ec7u kh\u00f3 gi\u1ea3i th\u00edch. C\u00e1c h\u1ec7 th\u1ed1ng NGS m\u1edbi h\u01a1n v\u00e0 nh\u1ea1y c\u1ea3m h\u01a1n \u0111\u00e3 c\u1ea3i thi\u1ec7n nh\u1eefng v\u1ea5n \u0111\u1ec1 n\u00e0y v\u00e0 gi\u1edd \u0111\u00e2y c\u0169ng c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c bi\u1ebfn th\u1ec3 di truy\u1ec1n hi\u1ebfm g\u1eb7p v\u00e0 \u0111a h\u00ecnh nucleotide \u0111\u01a1n (single nucleotide polymorphism, SNP), \u0111\u1ed3ng th\u1eddi bao g\u1ed3m to\u00e0n b\u1ed9 b\u1ed9 gen ho\u1eb7c phi\u00ean m\u00e3. NGS \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ee9ng minh l\u00e0 c\u00f3 gi\u00e1 tr\u1ecb trong nhi\u1ec1u t\u00ecnh hu\u1ed1ng, ch\u1eb3ng h\u1ea1n nh\u01b0 khi t\u1ea5t c\u1ea3 c\u00e1c x\u00e9t nghi\u1ec7m \u0111\u1ed9t bi\u1ebfn \u0111\u01a1n l\u1ebb ho\u1eb7c x\u00e9t nghi\u1ec7m \u0111i\u1ec3m n\u00f3ng kh\u00f4ng th\u1ec3 cho th\u1ea5y c\u00e1c \u0111\u1ed9t bi\u1ebfn c\u00f3 th\u1ec3 nh\u1eafm m\u1ee5c ti\u00eau ho\u1eb7c khi kh\u00f4ng \u0111\u1ee7 v\u1eadt li\u1ec7u kh\u1ed1i u \u0111\u1ec3 x\u00e9t nghi\u1ec7m d\u1ea5u \u1ea5n sinh h\u1ecdc \u0111\u01a1n li\u00ean ti\u1ebfp. V\u1edbi nhi\u1ec1u gen \u0111\u01b0\u1ee3c \u0111\u00e1nh gi\u00e1 trong m\u1ed9t x\u00e9t nghi\u1ec7m duy nh\u1ea5t, b\u00e1c s\u0129 l\u00e2m s\u00e0ng c\u00f3 th\u1ec3 thu \u0111\u01b0\u1ee3c hi\u1ec3u bi\u1ebft ch\u1ea9n \u0111o\u00e1n r\u1ed9ng h\u01a1n v\u1ec1 c\u00e1c bi\u1ec7n ph\u00e1p can thi\u1ec7p tr\u1ecb li\u1ec7u ti\u1ec1m n\u0103ng, m\u1ed9t s\u1ed1 trong \u0111\u00f3 d\u00e0nh ri\u00eang cho b\u1ec7nh nh\u00e2n. Vi\u1ec7c k\u1ebft h\u1ee3p d\u1eef li\u1ec7u NGS t\u1eeb b\u1ed9 gen ung th\u01b0 v\u1edbi c\u00e1c li\u1ec7u ph\u00e1p hi\u1ec7n c\u00f3 \u0111\u00e3 d\u1eabn \u0111\u1ebfn k\u1ebft qu\u1ea3 t\u00edch c\u1ef1c cho b\u1ec7nh nh\u00e2n \u0111\u1ed1i v\u1edbi m\u1ed9t s\u1ed1 b\u1ec7nh ung th\u01b0. V\u00ed d\u1ee5: \u0111\u1ed1i v\u1edbi ung th\u01b0 ph\u1ed5i, ph\u01b0\u01a1ng ph\u00e1p n\u00e0y t\u1ea1o \u0111i\u1ec1u ki\u1ec7n thu\u1eadn l\u1ee3i cho vi\u1ec7c s\u1eed d\u1ee5ng v\u00e0 m\u1ee9c \u0111\u1ed9 hi\u1ec7u qu\u1ea3 c\u1ee7a c\u00e1c li\u1ec7u ph\u00e1p nh\u1eafm \u0111\u00edch kh\u00e1c nhau, ch\u1eb3ng h\u1ea1n nh\u01b0 c\u00e1c thu\u1ed1c \u1ee9c ch\u1ebf tyrosine kinase c\u1ee7a th\u1ee5 th\u1ec3 y\u1ebfu t\u1ed1 t\u0103ng tr\u01b0\u1edfng bi\u1ec3u b\u00ec (epidermal growth factor receptor tyrosine kinase inhibitor, EGFR TKI) [1]\u00a0v\u00e0 c\u00e1c ch\u1ea5t \u1ee9c ch\u1ebf ALK (anaplastic lymphoma kinase) [2]. Khi b\u1ec7nh nh\u00e2n ung th\u01b0 ti\u1ebfn tri\u1ec3n \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p v\u1edbi \u0111\u1ed9t bi\u1ebfn, h\u1ecd s\u1ed1ng s\u00f3t l\u00e2u h\u01a1n v\u1edbi t\u1ef7 l\u1ec7 \u0111\u00e1p \u1ee9ng t\u1ed5ng th\u1ec3 t\u1ed1t h\u01a1n v\u00e0 th\u1eddi gian \u0111i \u0111\u1ebfn \u0111i\u1ec1u tr\u1ecb th\u1ea5t b\u1ea1i d\u00e0i h\u01a1n so v\u1edbi nh\u1eefng ng\u01b0\u1eddi ch\u01b0a t\u1eebng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p v\u1edbi \u0111\u1ed9t bi\u1ebfn[3]. \u0110i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p v\u1edbi sai l\u1ec7ch ph\u00e2n t\u1eed c\u1ee5 th\u1ec3, ch\u1eb3ng h\u1ea1n nh\u01b0 khu\u1ebfch \u0111\u1ea1i s\u1ed1 b\u1ea3n sao (v\u00ed d\u1ee5, HER2) ho\u1eb7c bi\u1ec3u hi\u1ec7n protein (bi\u1ec3u hi\u1ec7n ER\/PR\/HER2), c\u0169ng \u0111\u00e3 d\u1eabn \u0111\u1ebfn k\u1ebft qu\u1ea3 c\u1ea3i thi\u1ec7n cho b\u1ec7nh nh\u00e2n. M\u1eb7c d\u00f9 ch\u00fang ta \u0111\u00e3 th\u1ea5y nh\u1eefng ti\u1ebfn b\u1ed9 nhanh ch\u00f3ng trong l\u0129nh v\u1ef1c ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c, nhi\u1ec1u kh\u1ed1i u \u0111\u01b0\u1ee3c gi\u1ea3i tr\u00ecnh t\u1ef1 gen NGS v\u1eabn s\u1ebd ch\u1ee9a \u0111\u1ed9t bi\u1ebfn g\u00e2y b\u1ec7nh m\u00e0 hi\u1ec7n t\u1ea1i kh\u00f4ng th\u1ec3 \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p b\u1eb1ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ho\u1eb7c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng hi\u1ec7n c\u00f3. Tuy nhi\u00ean, NGS c\u00f3 th\u1ec3 thu th\u1eadp m\u1ed9t lo\u1ea1t c\u00e1c \u0111\u1ed9t bi\u1ebfn ung th\u01b0 v\u00e0 b\u1ea5t th\u01b0\u1eddng to\u00e0n di\u1ec7n h\u01a1n \u1edf c\u00e1c kh\u1ed1i u c\u00f3 th\u1ec3 ph\u00f9 h\u1ee3p \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb b\u1eb1ng c\u00e1c t\u00e1c nh\u00e2n \u0111\u00edch c\u00f3 li\u00ean quan \u0111\u1ebfn ph\u1ea3n \u1ee9ng s\u00e2u v\u00e0 b\u1ec1n v\u1eefng, \u0111\u1ed3ng th\u1eddi x\u00e1c \u0111\u1ecbnh nh\u1eefng b\u1ec7nh nh\u00e2n c\u00f3 th\u1ec3 h\u01b0\u1edfng l\u1ee3i t\u1eeb c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb v\u00e0 th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng m\u1edbi.<\/p>\n

Tr\u1ea3i nghi\u1ec7m c\u1ee7a b\u00e1c s\u0129 Tan v\u1edbi NGS t\u1ea1i Singapore<\/h2>\n

Ti\u1ebfn s\u0129 Tan tr\u00edch d\u1eabn v\u00ed d\u1ee5 v\u1ec1 m\u1ed9t b\u1ec7nh nh\u00e2n v\u1edbi ung th\u01b0 n\u1ed9i m\u1ea1c t\u1eed cung t\u1ebf b\u00e0o s\u00e1ng di c\u0103n, ng\u01b0\u1eddi hi\u1ec7n \u0111ang \u0111\u01b0\u1ee3c \u00f4ng \u0111i\u1ec1u tr\u1ecb. V\u00ec nh\u1eefng b\u1ec7nh ung th\u01b0 n\u00e0y th\u01b0\u1eddng r\u1ea5t kh\u00e1ng h\u00f3a tr\u1ecb, t\u00ecnh tr\u1ea1ng t\u00e1i ph\u00e1t x\u1ea3y ra 3 th\u00e1ng sau ph\u1ea3n \u1ee9ng \u0111i\u1ec1u tr\u1ecb ban \u0111\u1ea7u. NGS cho th\u1ea5y \u0111\u1ed9t bi\u1ebfn th\u1ea5t \u0111i\u1ec1u \u2013 gi\u00e3n mao m\u1ea1ch trong kh\u1ed1i u c\u1ee7a b\u1ec7nh nh\u00e2n n\u00e0y v\u00e0 cho ph\u00e9p c\u00f4 tham gia v\u00e0o th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng v\u1ec1 m\u1ed9t ch\u1ea5t \u1ee9c ch\u1ebf, d\u1eabn \u0111\u1ebfn ph\u1ea3n \u1ee9ng t\u00edch c\u1ef1c v\u1edbi k\u1ebft qu\u1ea3 ki\u1ec3m so\u00e1t b\u1ec7nh trong h\u01a1n m\u1ed9t n\u0103m r\u01b0\u1ee1i. C\u00e1c b\u1ec7nh nh\u00e2n t\u01b0\u01a1ng t\u1ef1 theo ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb th\u00f4ng th\u01b0\u1eddng th\u01b0\u1eddng s\u1ebd c\u00f3 th\u1eddi gian s\u1ed1ng th\u00eam m\u00e0 kh\u00f4ng ti\u1ebfn tri\u1ec3n b\u1ec7nh d\u01b0\u1edbi 6 th\u00e1ng, ng\u1eafn h\u01a1n nhi\u1ec1u. Vi\u1ec7c l\u1eadp h\u1ed3 s\u01a1 t\u1ea1i th\u1eddi \u0111i\u1ec3m ch\u1ea9n \u0111o\u00e1n c\u0169ng tr\u1edf n\u00ean c\u1ea7n thi\u1ebft khi b\u1ec7nh nh\u00e2n bi\u1ec3u hi\u1ec7n c\u00e1c ki\u1ec3u h\u00ecnh v\u00e0 ki\u1ec3u gen \u0111\u1ed9c \u0111\u00e1o. Ti\u1ebfn s\u0129 Tan hi\u1ec3u r\u1eb1ng n\u1ebfu c\u00e1c b\u00e1c s\u0129 kh\u00f4ng n\u1eafm b\u1eaft \u0111\u01b0\u1ee3c t\u00ednh kh\u00f4ng \u0111\u1ed3ng nh\u1ea5t n\u00e0y trong chi\u1ebfn l\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb c\u1ee7a h\u1ecd, h\u1ecd s\u1ebd kh\u00f4ng th\u1ec3 cung c\u1ea5p c\u00e1c li\u1ec7u ph\u00e1p ch\u00ednh x\u00e1c. V\u00ed d\u1ee5, s\u1ef1 hi\u1ec7n di\u1ec7n c\u1ee7a thi\u1ebfu h\u1ee5t t\u00e1i t\u1ed5 h\u1ee3p t\u01b0\u01a1ng \u0111\u1ed3ng (homologous recombination deficiency, HRD) trong ung th\u01b0 bu\u1ed3ng tr\u1ee9ng c\u00f3 th\u1ec3 khi\u1ebfn cho vi\u1ec7c \u0111i\u1ec1u tr\u1ecb b\u1eb1ng c\u00e1c ch\u1ea5t \u1ee9c ch\u1ebf PARP r\u1ea5t hi\u1ec7u qu\u1ea3 cho b\u1ec7nh nh\u00e2n, v\u00e0 c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m c\u1ee5 th\u1ec3 c\u1ee7a HRD trong b\u1ed9 gen kh\u1ed1i u ch\u1ec9 c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh th\u00f4ng qua h\u1ed3 s\u01a1 b\u1ed9 gen to\u00e0n di\u1ec7n. \u201cCh\u00fang t\u00f4i \u0111\u00e3 nh\u1eadn th\u1ea5y r\u1eb1ng ngo\u00e0i c\u00e1c b\u1ec7nh ung th\u01b0 t\u00e1i ph\u00e1t\/kh\u00e1ng tr\u1ecb, hi\u1ec7n nay t\u1ea7m quan tr\u1ecdng c\u1ee7a NGS ng\u00e0y c\u00e0ng t\u0103ng trong b\u1ed1i c\u1ea3nh ti\u1ec1n tuy\u1ebfn \u0111\u1ed1i v\u1edbi m\u1ed9t s\u1ed1 b\u1ec7nh, nh\u01b0 ung th\u01b0 ph\u1ed5i v\u00e0 ung th\u01b0 bu\u1ed3ng tr\u1ee9ng, trong \u0111\u00f3 k\u1ebft qu\u1ea3 l\u1eadp h\u1ed3 s\u01a1 b\u1ed9 gen\u00a0to\u00e0n di\u1ec7n s\u1ebd tr\u1edf n\u00ean quan tr\u1ecdng \u0111\u1ed1i v\u1edbi ph\u00e2n t\u1ea7ng \u0111i\u1ec1u tr\u1ecb\u201d, Ti\u1ebfn s\u0129 Tan n\u00f3i. L\u00e0 m\u1ed9t trong c\u00e1c b\u00ean ti\u00ean phong \u00e1p d\u1ee5ng NGS \u1edf ch\u00e2u \u00c1, nh\u00f3m ph\u00e1t tri\u1ec3n thu\u1ed1c t\u1ea1i NCIS \u0111\u00e3 th\u00e0nh l\u1eadp m\u1ed9t \u0111\u01a1n v\u1ecb th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng giai \u0111o\u1ea1n \u0111\u1ea7u, NCIS Developmental Therapeutics Unit (DTU),\u00a0\u0111\u1ec3 cung c\u1ea5p gi\u1ea3i tr\u00ecnh t\u1ef1 gen mi\u1ec5n ph\u00ed cho b\u1ec7nh nh\u00e2n \u0111\u1ee7 \u0111i\u1ec1u ki\u1ec7n. NCIS c\u0169ng \u0111\u00e3 tri\u1ec3n khai ch\u01b0\u01a1ng tr\u00ecnh X\u00e1c \u0111\u1ecbnh \u0110\u1eb7c \u0111i\u1ec3m Ph\u00e2n t\u1eed Ung th\u01b0 T\u00edch h\u1ee3p (Integrated Molecular Profiling of Cancers, IMAC) v\u00e0o n\u0103m 2014, hi\u1ec7n \u0111\u00e3 ph\u00e1t tri\u1ec3n t\u1eeb m\u1ed9t b\u1ea3ng ch\u1ec9 50 m\u1ee5c ti\u00eau gen \u0111\u1ebfn 324 gen cho \u0111\u1ebfn ng\u00e0y nay.<\/p>\n

H\u1ed9i \u0111\u1ed3ng ph\u00e2n t\u1eed kh\u1ed1i u t\u1ea1i NCIS<\/h3>\n

V\u1edbi nhi\u1ec1u nghi\u00ean c\u1ee9u NGS cho th\u1ea5y th\u00e0nh c\u00f4ng hi\u1ec7u qu\u1ea3 l\u00e2m s\u00e0ng, c\u00e1c b\u00e1c s\u0129 kh\u00f4ng c\u00f3 chuy\u00ean m\u00f4n v\u1ec1 h\u1ec7 gen h\u1ecdc n\u00ean tham gia v\u00e0o h\u1ed9i \u0111\u1ed3ng ph\u00e2n t\u1eed kh\u1ed1i u (MTB). Trong MTB, b\u00e1o c\u00e1o NGS c\u00f3 th\u1ec3 kh\u00f3 di\u1ec5n gi\u1ea3i c\u1ee7a b\u1ec7nh nh\u00e2n \u0111\u1eddi th\u1ef1c \u0111\u01b0\u1ee3c c\u00e1c chuy\u00ean gia l\u0129nh v\u1ef1c t\u1eeb nhi\u1ec1u ng\u00e0nh l\u00e2m s\u00e0ng v\u00e0 khoa h\u1ecdc t\u00edch c\u1ef1c \u0111\u00e1nh gi\u00e1. MTB th\u01b0\u1eddng bao g\u1ed3m \u00edt nh\u1ea5t m\u1ed9t b\u00e1c s\u0129 ung th\u01b0 n\u1ed9i khoa quen thu\u1ed9c v\u1edbi \u0111i\u1ec1u tr\u1ecb nh\u1eafm \u0111\u00edch hi\u1ec7n c\u00f3, c\u00e1c l\u1ef1a ch\u1ecdn th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng v\u00e0 c\u00e1c y\u1ebfu t\u1ed1 c\u1ee5 th\u1ec3 c\u1ee7a b\u1ec7nh nh\u00e2n; m\u1ed9t nh\u00e0 nghi\u00ean c\u1ee9u b\u1ec7nh h\u1ecdc ph\u00e2n t\u1eed v\u1edbi th\u00f4ng tin v\u1ec1 ph\u00e2n t\u00edch ph\u00e2n t\u1eed; v\u00e0 m\u1ed9t nh\u00e0 di truy\u1ec1n h\u1ecdc ung th\u01b0 c\u00f3 th\u1ec3 cung c\u1ea5p th\u00f4ng tin \u0111\u1ea7u v\u00e0o v\u1ec1 quan h\u1ec7 m\u1eadt thi\u1ebft \u0111\u1ebfn d\u00f2ng m\u1ea7m c\u1ee7a b\u1ea5t k\u1ef3 \u0111\u1ed9t bi\u1ebfn m\u1eafc ph\u1ea3i \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh n\u00e0o. MTB c\u0169ng l\u00e0 m\u1ed9t di\u1ec5n \u0111\u00e0n l\u00fd t\u01b0\u1edfng \u0111\u1ec3 gi\u00e1o d\u1ee5c b\u00e1c s\u0129 v\u00ec ch\u00fang gia t\u0103ng hi\u1ec3u bi\u1ebft v\u1ec1 d\u1eef li\u1ec7u b\u1ed9 gen, c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 gen v\u00e0 c\u00e1c li\u1ec7u ph\u00e1p ph\u00f9 h\u1ee3p v\u1edbi tr\u00ecnh t\u1ef1. T\u1ea1i NCIS, c\u00e1c cu\u1ed9c h\u1ecdp MTB h\u00e0ng tu\u1ea7n \u0111\u01b0\u1ee3c NCIS Developmental Therapeutics Unit (DTU) t\u1ed5 ch\u1ee9c \u0111\u1ec3 xem x\u00e9t d\u1eef li\u1ec7u x\u00e1c \u0111\u1ecbnh \u0111\u1eb7c \u0111i\u1ec3m ph\u00e2n t\u1eed. Nh\u00f3m NCIS DTU bao g\u1ed3m c\u00e1c chuy\u00ean gia ph\u00e1t tri\u1ec3n thu\u1ed1c giai \u0111o\u1ea1n \u0111\u1ea7u v\u00e0 \u0111\u1eb7c hi\u1ec7u v\u1ecb tr\u00ed kh\u1ed1i u. MTB l\u00e0 c\u00f4ng c\u1ee5 x\u00e1c \u0111\u1ecbnh \u0111\u1ed9t bi\u1ebfn v\u00e0 x\u00e1c \u0111\u1ecbnh b\u1ec7nh nh\u00e2n n\u00ean \u0111\u01b0\u1ee3c thu tuy\u1ec3n v\u00e0o c\u00e1c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng, nh\u01b0ng ngay c\u1ea3 khi kh\u00f4ng c\u00f3 th\u1eed nghi\u1ec7m n\u00e0o ph\u00f9 h\u1ee3p, d\u1eef li\u1ec7u NGS c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh xem c\u00f3 n\u00ean s\u1eed d\u1ee5ng c\u00e1c l\u1ef1a ch\u1ecdn thu\u1ed1c nh\u1eafm \u0111\u00edch thay th\u1ebf hay kh\u00f4ng. Trong c\u00e1c MTB, h\u1ed3 s\u01a1 \u0111\u1ed9t bi\u1ebfn duy nh\u1ea5t c\u1ee7a m\u1ed7i b\u1ec7nh nh\u00e2n \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh k\u1ebf ho\u1ea1ch \u0111i\u1ec1u tr\u1ecb c\u1ee7a h\u1ecd. \u201cM\u1ed7i b\u1ec7nh ung th\u01b0 l\u00e0 m\u1ed9t b\u1ec7nh hi\u1ebfm g\u1eb7p do s\u1ef1 \u0111a d\u1ea1ng c\u1ee7a c\u00e1c h\u1ed3 s\u01a1 \u0111\u1ed9t bi\u1ebfn t\u1ed3n t\u1ea1i trong kh\u1ed1i u c\u1ee7a m\u1ed7i b\u1ec7nh nh\u00e2n. D\u1eef li\u1ec7u \u0111\u1ed9t bi\u1ebfn n\u00e0y c\u0169ng t\u1ea1o \u0111i\u1ec1u ki\u1ec7n cho qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n thu\u1ed1c theo d\u1ea5u \u1ea5n sinh h\u1ecdc kh\u00f4ng ph\u1ee5 thu\u1ed9c v\u00e0o d\u00e2n t\u1ed9c, \u0111\u1eb7c bi\u1ec7t quan tr\u1ecdng \u1edf ch\u00e2u \u00c1\u201d, \u00f4ng tr\u00ecnh b\u00e0y. \u0110\u1ed1i v\u1edbi c\u00e1c qu\u1ed1c gia m\u1edbi b\u1eaft \u0111\u1ea7u h\u00e0nh tr\u00ecnh l\u1eadp h\u1ed3 s\u01a1 b\u1ed9 gen n\u00e0y, Ti\u1ebfn s\u0129 Tan nh\u1ea5n m\u1ea1nh t\u1ea7m quan tr\u1ecdng v\u00e0 gi\u00e1 tr\u1ecb c\u1ee7a quan h\u1ec7 \u0111\u1ed1i t\u00e1c \u0111\u1ec3 t\u0103ng \u0111\u1ed9 ch\u00ednh x\u00e1c v\u00e0 gi\u1ea3m chi ph\u00ed c\u01a1 s\u1edf h\u1ea1 t\u1ea7ng v\u00e0 chuy\u00ean m\u00f4n, \u0111\u1ed3ng th\u1eddi \u0111\u1ea9y nhanh qu\u00e1 tr\u00ecnh \u0111i\u1ec1u tr\u1ecb cho b\u1ec7nh nh\u00e2n c\u00f3 \u0111\u1ee7 kh\u1ea3 n\u0103ng chi tr\u1ea3 cho ch\u0103m s\u00f3c ch\u00ednh x\u00e1c. \u1ea4n ph\u1ea9m g\u1ea7n \u0111\u00e2y c\u1ee7a \u00f4ng[4]\u00a0l\u00e0 t\u00e0i li\u1ec7u n\u00ean \u0111\u1ecdc cho b\u1ea5t c\u1ee9 ai t\u00ecm ki\u1ebfm \u00fd t\u01b0\u1edfng c\u1ee5 th\u1ec3 v\u1ec1 vi\u1ec7c v\u01b0\u1ee3t qua nh\u1eefng th\u00e1ch th\u1ee9c trong vi\u1ec7c s\u1eed d\u1ee5ng ch\u1ea9n \u0111o\u00e1n d\u1ef1a tr\u00ean NGS v\u1ec1 m\u1eb7t l\u00e2m s\u00e0ng. Do ung th\u01b0 h\u1ecdc ch\u00ednh x\u00e1c v\u00e0 qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n thu\u1ed1c ti\u1ebfp t\u1ee5c d\u1eabn \u0111\u1ea7u trong vi\u1ec7c \u0111\u1ea1t \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 t\u1ed1t h\u01a1n cho b\u1ec7nh nh\u00e2n ung th\u01b0, v\u00e0 nh\u1eefng \u0111\u1ed5i m\u1edbi y t\u1ebf t\u1ea1o \u0111i\u1ec1u ki\u1ec7n thu\u1eadn l\u1ee3i cho vi\u1ec7c x\u00e1c \u0111\u1ecbnh \u0111\u1eb7c t\u00ednh kh\u1ed1i u \u0111a omic (nh\u01b0 khoa h\u1ecdc nghi\u00ean c\u1ee9u to\u00e0n b\u1ed9 protein v\u00e0 h\u1ec7 gen h\u1ecdc) v\u00e0 sinh thi\u1ebft l\u1ecfng, nhu c\u1ea7u l\u00e2m s\u00e0ng cho vi\u1ec7c l\u1eadp h\u1ed3 s\u01a1 kh\u1ed1i u d\u1ef1a tr\u00ean NGS c\u00f3 kh\u1ea3 n\u0103ng gia t\u0103ng. Do \u0111\u00f3, t\u1ea5t c\u1ea3 c\u00e1c b\u00ean li\u00ean quan trong l\u0129nh v\u1ef1c \u0111i\u1ec1u tr\u1ecb ung th\u01b0 c\u00f3 tr\u00e1ch nhi\u1ec7m nu\u00f4i d\u01b0\u1ee1ng m\u1ed9t h\u1ec7 sinh th\u00e1i c\u00f3 th\u1ec3 h\u1ed7 tr\u1ee3 y h\u1ecdc ch\u00ednh x\u00e1c v\u00e0 s\u1eed d\u1ee5ng th\u00edch h\u1ee3p c\u00e1c li\u1ec7u ph\u00e1p nh\u1eafm m\u1ee5c ti\u00eau. V\u1ec1 v\u1ea5n \u0111\u1ec1 n\u00e0y, MTB l\u00e0 m\u00f4i tr\u01b0\u1eddng ho\u00e0n h\u1ea3o \u0111\u1ec3 gi\u1ea3i quy\u1ebft c\u00e1c v\u1ea5n \u0111\u1ec1 ch\u0103m s\u00f3c b\u1ec7nh nh\u00e2n quan tr\u1ecdng, \u0111\u1ed3ng th\u1eddi t\u1eadn d\u1ee5ng s\u1ee9c m\u1ea1nh c\u1ee7a d\u1eef li\u1ec7u NGS \u0111\u1ec3 hi\u1ec7n th\u1ef1c h\u00f3a tri\u1ec3n v\u1ecdng v\u1ec1 li\u1ec7u ph\u00e1p \u0111i\u1ec1u tr\u1ecb ch\u00ednh x\u00e1c cho b\u1ec7nh ung th\u01b0. \u0110\u1ec3 t\u00ecm hi\u1ec3u th\u00eam v\u1ec1 vai tr\u00f2 \u0111ang ph\u00e1t tri\u1ec3n c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 ti\u1ebfp theo, h\u1ed9i \u0111\u1ed3ng ph\u00e2n t\u1eed ung th\u01b0 v\u00e0 c\u00e1c c\u00f4ng c\u1ee5 h\u1ed7 tr\u1ee3 quy\u1ebft \u0111\u1ecbnh l\u00e2m s\u00e0ng trong \u0111i\u1ec1u tr\u1ecb ung th\u01b0, h\u00e3y xem m\u1ed9t s\u1ed1 nghi\u00ean c\u1ee9u tr\u01b0\u1eddng h\u1ee3p kh\u00e1c:\u00a0<\/em><\/p>\n