{"id":141380,"date":"2024-05-24T02:05:27","date_gmt":"2024-05-24T02:05:27","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e9%9f%93%e5%9c%8b%e7%bd%95%e8%a6%8b%e7%97%85%e8%a8%ba%e6%96%b7%e7%9a%84%e6%94%b9%e9%80%b2%ef%bc%9ajong-hee-chae-%e6%95%99%e6%8e%88%e5%8f%97%e9%97%9c%e6%b3%a8\/"},"modified":"2026-01-19T07:42:16","modified_gmt":"2026-01-19T07:42:16","slug":"improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/disease-area\/rare-diseases\/improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae\/","title":{"rendered":"\u97d3\u570b\u7f55\u898b\u75c5\u8a3a\u65b7\u7684\u6539\u9032\uff1aJong-Hee Chae \u6559\u6388\u53d7\u95dc\u6ce8"},"content":{"rendered":"

Jong-Hee Chae \u6559\u6388\u88ab\u516c\u8a8d\u70ba\u97d3\u570b\u7f55\u898b\u907a\u50b3\u75be\u75c5\u65b9\u9762\u7684\u9802\u5c16\u5c08\u5bb6\u4e4b\u4e00\uff0c\u73fe\u4efb\u97d3\u570b\u9818\u5148\u7684\u5b78\u8853\u6027\u91ab\u7642\u6a5f\u69cb\u4e4b\u4e00\u7684\u9996\u723e\u570b\u7acb\u5927\u5b78\u91ab\u9662 (SNUH) \u81e8\u5e8a\u57fa\u56e0\u91ab\u5b78\u7cfb\u6559\u6388\u548c\u7f55\u898b\u75c5\u4e2d\u5fc3\u4e3b\u4efb<\/a>\u3002<\/p>\n

\u5728\u773e\u591a\u8077\u8cac\u4e2d\uff0cChae \u6559\u6388\u5728\u65e8\u5728\u6539\u5584\u97d3\u570b\u7f55\u898b\u75c5\u8a3a\u65b7\u7684\u6578\u500b\u91cd\u8981\u5c08\u6848\u4e2d\u626e\u6f14\u8457\u95dc\u9375\u89d2\u8272\u3002\u5728\u6700\u8fd1\u8207 Lab Insights \u7684\u8a0e\u8ad6\u4e2d\uff0c\u5979\u5206\u4eab\u5979\u5de5\u4f5c\u7684\u6700\u65b0\u8cc7\u8a0a\u4ee5\u53ca\u5c0d\u65bc\u9700\u8981\u4ec0\u9ebc\u4f86\u7e2e\u77ed\u60a3\u8005\u8a3a\u65b7\u6b77\u7a0b\u7684\u601d\u8003\u3002<\/p>\n

SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u81e8\u5e8a\u8a3a\u65b7<\/h2>\n

SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u6210\u7acb\u65bc 2010 \u5e74\uff0c\u5c07\u81ea\u8eab\u5b9a\u4f4d\u70ba\u97d3\u570b\u9996\u500b\u591a\u5b78\u79d1\u3001\u6574\u5408\u5f0f\u7f55\u898b\u60a3\u8005\u8005\u91ab\u7642\u7cfb\u7d71\u3002\u8eab\u70ba\u4e2d\u5fc3\u4e3b\u4efb\uff0cChae\u6559\u6388\u8ca0\u8cac\u76e3\u7ba1 70 \u591a\u500b\u5152\u79d1\u53ca\u6210\u4eba\u60a3\u8005\u7684\u500b\u5225\u8a3a\u6240\uff08\u5979\u4e5f\u662f\u57f7\u696d\u7684\u5152\u79d1\u795e\u7d93\u79d1\u91ab\u5e2b\uff0c\u4e26\u5728 SNUH \u5152\u7ae5\u91ab\u9662\u770b\u8a3a\uff09\u3002<\/p>\n

\u5c0d\u65bc\u5c1a\u672a\u78ba\u8a3a\u7684\u60a3\u8005\uff0cSNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u63d0\u4f9b\u97d3\u570b\u4e00\u4e9b\u6700\u8907\u96dc\u7684\u57fa\u56e0\u6aa2\u6e2c\u64cd\u4f5c\u3002\u96d6\u7136\u5168\u570b\u5927\u591a\u6578\u5152\u7ae5\u91ab\u9662\u90fd\u6709\u80fd\u529b\u9032\u884c\u5e38\u898f\u57fa\u56e0\u6aa2\u6e2c\uff0c\u4f8b\u5982\u4f7f\u7528\u5e02\u552e\u7684 NGS \u8a66\u5291\u76d2\u548c\u5fae\u9663\u5217\uff0c\u4f46 SNUH \u5f80\u5f80\u6703\u63a5\u624b\u6700\u8907\u96dc\u548c\u6700\u5177\u6311\u6230\u6027\u7684\u75c5\u4f8b\u3002<\/p>\n

SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u4e00\u500b\u4e3b\u8981\u91cd\u9ede\u9818\u57df\u662f\u5c0d\u6709\u75c7\u72c0\u7684\u60a3\u8005\u9032\u884c\u5feb\u901f\u57fa\u56e0\u7d44\u6e2c\u5e8f\u3002\u8207\u901a\u5e38\u9700\u8981\u6578\u6708\u624d\u80fd\u5b8c\u6210\u7684\u5e38\u898f\u57fa\u56e0\u6aa2\u6e2c\u76f8\u6bd4\uff0cChae \u6559\u6388\u7684\u4e2d\u5fc3\u901a\u5e38\u80fd\u5920\u5728\u5e7e\u9031\u6216\u66f4\u77ed\u7684\u6642\u9593\u5167\u63d0\u4f9b\u7d50\u679c\uff0c\u5c24\u5176\u662f\u5c0d\u65bc\u65b0\u751f\u5152\u6216\u5152\u79d1\u52a0\u8b77\u75c5\u623f\u7684\u7dca\u6025\u75c5\u4f8b\u3002\u97d3\u570b\u570b\u5bb6\u5065\u5eb7\u4fdd\u96aa\u8a08\u756b\u4e0d\u6db5\u84cb\u9019\u4e9b\u5feb\u901f\u670d\u52d9\uff0c\u4f46\u6709\u6642\u8cc7\u91d1\u53ef\u4ee5\u900f\u904e\u91ab\u9662\u3001\u516c\u5171\u885b\u751f\u5c08\u6848\u6216\u5728\u5730\u975e\u653f\u5e9c\u7d44\u7e54\u7372\u5f97\u3002<\/p>\n

SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u4e00\u7a2e\u5feb\u901f\u6aa2\u6e2c\u65b9\u6cd5\u662f\uff0c\u7531 Chae \u6559\u6388\u8207 MedySapiens \u5171\u540c\u958b\u767c\u7684 NGS \u5c0f\u7d44\uff0c\u9019\u662f\u4e00\u5bb6\u5728\u5730\u79c1\u4eba\u516c\u53f8\uff0c\u5728\u5c16\u7aef AI\u3001\u751f\u7269\u8cc7\u8a0a\u5b78\u548c\u57fa\u56e0\u7d44\u5b78\u7684\u4ea4\u53c9\u9ede\u958b\u767c\u7522\u54c1\u548c\u670d\u52d9\u3002\u8a72\u7d44\u5408\u6db5\u84cb\u7d04 270 \u500b\u57fa\u56e0\uff0c\u4e3b\u8981\u91dd\u5c0d\u97d3\u570b\u53ef\u9032\u884c\u9ad8\u6548\u6cbb\u7642\u7684\u75c5\u75c7\u3002\u6b64\u57fa\u56e0\u6e05\u55ae\u6703\u5b9a\u671f\u66f4\u65b0\uff0c\u4ee5\u638c\u63e1\u57fa\u56e0\u91ab\u5b78\u8207\u88dc\u52a9\u7684\u6700\u65b0\u767c\u5c55\u3002<\/p>\n

Chae \u6559\u6388\u8868\u793a\uff0c\u8207\u97d3\u570b\u66f4\u5168\u9762\u7684\u5b9a\u5e8f\u670d\u52d9\u76f8\u6bd4\uff0cSNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684 NGS \u8a66\u5291\u76d2\u6210\u672c\u66f4\u4f4e\uff0c\u9031\u8f49\u6642\u9593\u66f4\u5feb\u3002\u5b83\u4e5f\u53ef\u4ee5\u8207\u97d3\u570b\u5e7e\u4e4e\u6240\u6709\u65b0\u751f\u5152\u63a5\u53d7\u7684\u6a19\u6e96\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u76f8\u540c\u7684\u4e7e\u8840\u6591 (DBS) \u6750\u6599\u4e00\u8d77\u4f7f\u7528\uff0c\u56e0\u6b64\u4e0d\u4e00\u5b9a\u9700\u8981\u984d\u5916\u62bd\u8840\u6216\u5927\u91cf\u6a23\u672c\uff0c\u9019\u6709\u6642\u4e0d\u9069\u5408\u65b0\u751f\u5152\u6216\u5371\u6025\u72c0\u6cc1\u4e2d\u7684\u5152\u7ae5\u3002<\/p>\n

\u5c0d\u65bc\u7591\u4f3c\u60a3\u6709\u672c\u8a66\u5291\u76d2\u4e0d\u9069\u7528\u4e4b\u75c5\u75c7\u6216\u5df2\u5728\u5176\u4ed6\u4e2d\u5fc3\u9032\u884c\u66f4\u5e38\u898f\u4e4b\u57fa\u56e0\u6aa2\u6e2c\u4e4b\u60a3\u8005\uff0c\u53e6\u4e00\u7a2e\u9078\u64c7\u70ba\u9032\u884c\u57fa\u65bc\u4e09\u4f4d\u57fa\u56e0\u4e4b\u5feb\u901f\u5168\u5916\u986f\u5b50\u7d44\u6216\u57fa\u56e0\u9ad4\u5b9a\u5e8f (rWES\/rWGS)\u3002Chae \u6559\u6388\u8aaa\uff0c\u9019\u6bd4\u8a66\u5291\u76d2\u6aa2\u6e2c\u66f4\u6709\u53ef\u80fd\u5f97\u5230\u7d50\u679c\uff0c\u4f46\u9084\u9700\u8981\u5f9e\u60a3\u8005\u548c\u7236\u6bcd\u96d9\u65b9\u8eab\u4e0a\u62bd\u53d6\u984d\u5916\u7684\u8840\u6db2\uff0c\u4ee5\u53ca\u66f4\u591a\u7684\u81e8\u5e8a\u548c\u8cc7\u8a0a\u5b78\u5c08\u696d\u77e5\u8b58\u4f86\u89e3\u91cb\u7d50\u679c\u3002<\/p>\n

rWES \u548c rWGS \u7684\u6210\u672c\u4e5f\u6bd4\u8a66\u5291\u76d2\u6e2c\u8a66\u66f4\u9ad8\u3002\u9019\u4e9b\u75be\u75c5\u4e0d\u5c6c\u65bc\u570b\u5bb6\u4fdd\u96aa\u7684\u4fdd\u969c\u7bc4\u570d\uff0c\u4f46\u6709\u6642\u53ef\u4ee5\u900f\u904e\u674e\u5065\u7199\u5152\u7ae5\u764c\u75c7\u8207\u7f55\u898b\u75c5\u8a08\u756b\u7b49\u8a08\u756b\u7372\u5f97\u7d93\u8cbb\uff0c\u9019\u662f\u4e00\u9805\u70ba\u671f 10 \u5e74\u7684\u7814\u7a76\u548c\u516c\u5171\u885b\u751f\u8a08\u756b\uff0c\u5176\u4e2d\u5305\u62ec 600 \u5104\u97d3\u571c\uff084400 \u842c\u7f8e\u5143\uff09\u7684\u7d93\u8cbb\uff0c\u7528\u65bc\u652f\u63f4\u5152\u79d1\u7f55\u898b\u75c5\u7684\u8a3a\u65b7\u548c\u81e8\u5e8a\u670d\u52d9 [1]\u3002\u5118\u7ba1\u8cc7\u91d1\u5206\u4f48\u5728\u97d3\u570b\u7684\u8a31\u591a\u4e2d\u5fc3\uff0c\u4f46\u8a72\u8a08\u756b\u7684\u5927\u90e8\u5206\u6e2c\u8a66\u8207\u5354\u8abf\u90fd\u662f\u900f\u904e SNUH \u9032\u884c\u3002<\/p>\n

\u63a8\u52d5\u7f55\u898b\u75be\u75c5\u8a3a\u65b7\u7684\u7814\u7a76<\/h2>\n

\u5373\u4f7f\u5728 SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u6709\u5982\u6b64\u5f37\u5927\u7684\u6aa2\u6e2c\u80fd\u529b\uff0cChae \u6559\u6388\u4ecd\u611f\u5606\u5728\u5979\u8a3a\u9593\u6709\u8d85\u904e\u4e00\u534a\u7684\u60a3\u8005\u4ecd\u96e3\u4ee5\u5f97\u5230\u6e96\u78ba\u53ca\u6642\u7684\u8a3a\u65b7\u3002\u56e0\u6b64\uff0c\u5979\u4e5f\u82b1\u5927\u91cf\u6642\u9593\u53c3\u8207\u57fa\u56e0\u9ad4\u7814\u7a76\u8a08\u756b\uff0c\u65e8\u5728\u63a8\u52d5\u6e2c\u8a66\u5275\u65b0\uff0c\u63d0\u9ad8\u8a3a\u65b7\u7522\u91cf\uff0c\u4e26\u6539\u5584\u6574\u9ad4\u54c1\u8cea\u3001\u901f\u5ea6\u548c\u6210\u672c\u3002<\/p>\n

\u97d3\u570b\u5728\u57fa\u56e0\u6e2c\u8a66\u9818\u57df\u64c1\u6709\u5f37\u5927\u7684\u5275\u696d\u751f\u614b\u7cfb\u7d71\uff0c\u5176\u4e2d\u4e00\u4e9b\u5c08\u6848\u662f\u900f\u904e\u8207\u79c1\u71df\u516c\u53f8\u7684\u5925\u4f34\u95dc\u4fc2\u9032\u884c\u63a8\u52d5\u3002\u8209\u4f8b\u800c\u8a00\uff0cChae \u6559\u6388\u8207\u7f55\u898b\u75be\u75c5\u6e2c\u8a66\u53ca\u6280\u8853\u670d\u52d9\u4f9b\u61c9\u5546 30 \u5104\u5408\u4f5c\uff0c\u57fa\u65bc\u57fa\u56e0\u578b\u8868\u578b\u8cc7\u6599\u7814\u767c\u57fa\u65bc AI \u7684\u57fa\u56e0\u8b8a\u7570\u9ad4\u8edf\u9ad4\u3002\u5979\u8aaa\uff0c\u4ed6\u5011\u7684\u7cfb\u7d71\u5c0d\u65bc\u7f55\u898b\u8b8a\u7570\u9ad4\u7684\u5206\u6790\u80fd\u529b\u5df2\u7d93\u5f88\u4e86\u4e0d\u8d77\uff0c\u800c\u4e14\u9084\u5728\u6539\u9032\u3002<\/p>\n

Chae \u6559\u6388\u4ea6\u8207\u8a31\u591a\u516c\u5171\u90e8\u9580\u7814\u7a76\u5c08\u6848\u5408\u4f5c\uff0c\u5c24\u5176\u662f\u97d3\u570b\u570b\u5bb6\u751f\u7269\u5927\u8cc7\u6599\u8a08\u756b (NPBBD)\uff0c\u9019\u662f\u4e00\u500b\u591a\u90e8\u59d4\u8a08\u756b\uff0c\u65e8\u5728\u70ba\u97d3\u570b\u4eba\u53e3\u958b\u767c\u7d50\u5408\u57fa\u56e0\u7d44\u548c\u81e8\u5e8a\u8cc7\u8a0a\u7684\u8cc7\u6599\u96c6\u3002\u8a72\u5c08\u6848\u65bc 2020 \u5e74\u555f\u52d5\uff0c\u6700\u521d\u5728\u4e00\u500b\u7f55\u898b\u75be\u60a3\u8005\u8005\u7fa4\u7d44\u4e2d\u9032\u884c\u8a66\u9ede\u3002SNUH \u662f\u9019\u500b\u8a08\u756b\u7684\u4e3b\u8981\u4e2d\u5fc3\u4e4b\u4e00\uff0c\u5728\u9019\u500b\u6700\u521d\u7684\u65cf\u7fa4\u4e2d\uff0c\u5f15\u5165\u6578\u5343\u540d\u60a3\u8005\u9032\u884c\u4e09\u91cd WGS \u6aa2\u6e2c\u3002<\/p>\n

Chae \u6559\u6388\u8868\u793a\uff0c\u5728\u97d3\u570b\u751f\u7269\u5eab\u8a08\u756b\u5148\u5c0e\u968e\u6bb5\u7684\u62db\u52df\u5de5\u4f5c\u4e2d\uff0c\u4ed6\u5011\u4e3b\u8981\u5c08\u6ce8\u65bc\u672a\u8a3a\u65b7\u7684\u75c5\u4f8b\uff0c\u4ee5\u53ca\u5df2\u77e5\u7f55\u898b\u75c5\u7684\u60a3\u8005\uff0c\u5728\u9019\u4e9b\u60a3\u8005\u4e2d\uff0c\u7d50\u679c\u5177\u6709\u5f88\u9ad8\u7684\u81e8\u5e8a\u8b8a\u7570\u6027\uff0c\u4f8b\u5982\u675c\u6c0f\u808c\u71df\u990a\u4e0d\u826f\u6216\u857e\u7279\u6c0f\u75c7\u5019\u7fa4\uff0c\u800c WGS \u8cc7\u6599\u5177\u6709\u70ba\u6cbb\u7642\u958b\u767c\u63d0\u4f9b\u7dda\u7d22\u7684\u66f4\u5927\u6f5b\u529b\u3002\u4ed6\u5011\u76ee\u524d\u6b63\u5728\u70ba\u6b64\u76ee\u7684\u5206\u6790\u9019\u4e9b\u8cc7\u6599\u3002<\/p>\n

\u8207\u5176\u4ed6\u570b\u5bb6\u7684\u5176\u4ed6\u516c\u5171\u90e8\u9580\u751f\u7269\u9280\u884c\u5c08\u6848\u985e\u4f3c\uff0cNPBBD \u76ee\u524d\u6b63\u5728\u555f\u52d5\u7b2c\u4e8c\u968e\u6bb5\uff0c\u65e8\u5728\u62db\u52df\u6700\u591a 100 \u842c\u60a3\u8005\u7684\u66f4\u5927\u65cf\u7fa4\uff0c\u5305\u62ec\u60a3\u6709\u66f4\u5e38\u898b\u75be\u75c5\u53ca\u5065\u5eb7\u5c0d\u7167\u7684\u60a3\u8005\uff0c\u4ee5\u53ca\u66f4\u591a\u60a3\u6709\u7f55\u898b\u75be\u75c5\u7684\u60a3\u8005\u3002Chae \u6559\u6388\u4ecd\u70ba\u672c\u5c08\u6848\u7684\u9867\u554f\uff0c\u9f13\u52f5\u5176\u9818\u5c0e\u8005\u5236\u5b9a\u8207\u7814\u7a76\u4eba\u54e1\u5171\u7528\u8cc7\u6599\u7684\u7a69\u5065\u8a08\u756b\uff0c\u4e26\u5728\u672a\u4f86\u5e7e\u5e74\u4e2d\u7d0d\u5165\u9577\u8b80\u6bb5\u5b9a\u5e8f\u8cc7\u6599\u3002<\/p>\n

Chae \u6559\u6388\u4ea6\u6df1\u5165\u53c3\u8207\u97d3\u570b\u672a\u8a3a\u65b7\u75be\u75c5\u8a08\u756b (K-UDP)\uff0c\u8a72\u8a08\u756b\u70ba\u570b\u969b\u672a\u8a3a\u65b7\u75be\u75c5\u7db2\u8def (UDNI) \u7684\u6210\u54e1\u3002\u9664\u4e86\u5354\u52a9\u5728\u97d3\u570b\u555f\u52d5\u8a08\u756b\u4e26\u767c\u4f48\u5176\u52aa\u529b\u7d50\u679c\u5916 [2]\uff0c\u5979\u4e5f\u8a08\u756b\u65bc 2024 \u5e74 9 \u6708 5 \u65e5\u81f3 7 \u65e5\u5728\u9996\u723e\u7684 SNUH \u4e3b\u8fa6 UDNI \u6210\u7acb 10 \u9031\u5e74\u5927\u6703\u3002<\/p>\n

\u97d3\u570b\u65b0\u751f\u5152\u7be9\u6aa2\u7684\u9858\u666f<\/h2>\n

\u5728\u7f55\u898b\u75be\u75c5\u7814\u7a76\u548c\u8a3a\u65b7\u7684\u8a31\u591a\u6d3b\u52d5\u4e2d\uff0cSNUH \u7d93\u71df\u8457\u8a72\u570b\u7684\u4e00\u500b\u65b0\u751f\u5152\u7be9\u6aa2 (NBS) \u5be6\u9a57\u5ba4\u3002Chae \u6559\u6388\u8868\u793a\uff0c\u5728\u97d3\u570b\u653f\u5e9c\u7684\u8cc7\u52a9\u4e0b\uff0c\u516c\u5171 NBS \u7cfb\u7d71\u70ba 60 \u591a\u7a2e\u75c5\u75c7\u63d0\u4f9b\u751f\u5316\u6aa2\u6e2c\u3002<\/p>\n

\u5118\u7ba1\u5168\u7403\u8a31\u591a\u570b\u5bb6\u90fd\u5728\u70ba\u5176 NBS \u5c0f\u7d44\u589e\u52a0\u5206\u5b50\u6aa2\u6e2c\uff0c\u4ee5\u6aa2\u6e2c SMA \u548c SCID \u7b49\u75be\u75c5\uff0c\u4f46 Chae \u6559\u6388\u6307\u51fa\uff0c\u97d3\u570b\u7684\u516c\u5171 NBS \u7cfb\u7d71\u4e0d\u5305\u62ec\u4efb\u4f55\u57fa\u56e0\u9ad4\u7be9\u9078\u3002\u76ee\u524d\uff0c\u97d3\u570b\u7684\u570b\u5bb6\u4fdd\u96aa\u50c5\u6db5\u84cb\u5c0d\u6709\u75c7\u72c0\u7684\u60a3\u8005\u9032\u884c\u8a3a\u65b7\u7d1a\u57fa\u56e0\u9ad4\u6aa2\u6e2c\u3002\u6b64\u5916\uff0c\u5728\u5730\u6cd5\u5f8b\u8981\u6c42\u57fa\u56e0\u6aa2\u6e2c\u5fc5\u9808\u7372\u5f97\u7279\u6b8a\u540c\u610f\uff0c\u70ba\u81e8\u5e8a\u91ab\u5e2b\u5275\u9020\u984d\u5916\u7684\u884c\u653f\u7ba1\u7406\u5de5\u4f5c\uff0c\u4e26\u963b\u7919\u5728\u79c1\u4eba\u5e02\u5834\u90e8\u7f72\u5206\u5b50\u6aa2\u6e2c\u3002<\/p>\n

\u70ba\u4e86\u88dc\u5145\u653f\u5e9c\u8cc7\u52a9\u7684 NBS \u5c0f\u7d44\u8a31\u591a\u97d3\u570b\u7236\u6bcd\u8cfc\u8cb7\u7576\u5730\u5e02\u5834\u7a31\u70ba\u300cG \u6383\u63cf\u300d\u7684\u670d\u52d9\u3002Chae \u6559\u6388\u8aaa\uff0c\u9019\u4e9b\u57fa\u672c\u4e0a\u662f\u7121\u75c7\u72c0\u5152\u7ae5\u4e2d\u7528\u65bc\u5fae\u7f3a\u5931\u548c\u91cd\u8907\u7684\u67d3\u8272\u9ad4\u5fae\u9663\u5217\u3002\u8a31\u591a\u5728\u5730\u516c\u53f8\u63d0\u4f9b\u9019\u4e9b\u670d\u52d9\uff0c\u4e26\u5728\u5206\u5a29\u4e2d\u5fc3\u6253\u51fa\u5927\u91cf\u5ee3\u544a\u3002\u97d3\u570b\u570b\u6c11\u4fdd\u96aa\u4e0d\u6db5\u84cb\u9019\u4e9b\u7522\u54c1\u4f46\u5305\u542b\u5728\u4e00\u4e9b\u79c1\u4eba\u4fdd\u96aa\u8a08\u756b\u4e2d\u3002<\/p>\n

Chae \u6559\u6388\u8a8d\u70ba\uff0c\u9019\u7a2e NBS \u7cfb\u7d71\u5c0d\u65bc\u60a3\u8005\u800c\u8a00\u4e0d\u662f\u6700\u4f73\u7684\u89e3\u6c7a\u4e4b\u9053\u3002\u5979\u5e0c\u671b\u770b\u5230\u66f4\u591a\u5206\u5b50\u6aa2\u6e2c\u88ab\u7d0d\u5165\u516c\u5171\u548c\u79c1\u4eba NBS \u8a66\u5291\u76d2\u4e2d\uff0c\u4e26\u5e0c\u671b\u770b\u5230\u5927\u898f\u6a21\u7684\u7814\u7a76\u5c08\u6848\u4f86\u8a55\u4f30\u97d3\u570b NBS \u4e0b\u4e00\u4ee3\u6e2c\u5e8f\u7684\u6f5b\u529b\u3002\u6b64\u985e\u8a08\u756b\u5df2\u5728\u5168\u7403\u8a31\u591a\u5176\u4ed6\u5df2\u958b\u767c\u570b\u5bb6\u9032\u884c\uff0c\u4f46\u5c1a\u672a\u5728\u5979\u7684\u570b\u5bb6\u9032\u884c\u3002<\/p>\n

\u5979\u8aaa\uff1a\u300c\u6211\u5011\u5fc5\u9808\u52aa\u529b\u6539\u5584\u65b0\u751f\u5152\u57fa\u56e0\u9ad4\u7be9\u6aa2\u3002\u96d6\u7136\u51fa\u751f\u7387\u5728\u4e0b\u964d\uff0c\u4f46\u7236\u6bcd\u5c0d\u7167\u9867\u5b69\u5b50\u7684\u8208\u8da3\u537b\u8d8a\u4f86\u8d8a\u9ad8\u3002G \u6383\u63cf\u670d\u52d9\u4e3b\u8981\u5075\u6e2c\u81e8\u5e8a\u4e0a\u6211\u5011\u6c92\u6709\u592a\u591a\u53ef\u7528\u529f\u80fd\u7684\u75c5\u75c7\u3002\u6211\u5011\u9700\u8981\u627e\u5230\u66f4\u597d\u7684\u65b9\u5f0f\u4f86\u5e6b\u52a9\u6700\u80fd\u53d7\u76ca\u7684\u5152\u7ae5\u3002\u300d<\/p>\n

\u9451\u65bc\u5176\u4ed6\u8a31\u591a\u570b\u5bb6\u6301\u7e8c\u63a1\u7528\u57fa\u56e0\u9ad4 NBS\uff0c\u5176\u5728\u97d3\u570b\u4e4b\u63a1\u7528\u4f3c\u4e4e\u4e0d\u53ef\u907f\u514d\u3002\u5373\u4f7f\u5982\u6b64\uff0c\u6574\u500b\u751f\u614b\u7cfb\u7d71\u7684\u5229\u76ca\u76f8\u95dc\u8005\u4ee5\u53ca Chae \u6559\u6388\u7b49\u7f55\u898b\u75be\u75c5\u5148\u9a45\u7684\u9818\u5c0e\u529b\u4ecd\u9700\u52aa\u529b\u5de5\u4f5c\uff0c\u624d\u80fd\u5be6\u73fe\u7f55\u898b\u75be\u60a3\u8005\u8005\u53ca\u5176\u7167\u8b77\u8005\u8feb\u5207\u9700\u8981\u7684\u8b8a\u9769\u3002<\/p>\n

\u672c\u6587\u7531 Roche Diagnostics Asia Pacific \u91ab\u7642\u4fdd\u5065\u59d4\u8058\u8ca0\u8cac\u4eba Will Greene \u5728 Roche Diagnostics Korea \u548c Roche Pharmaceuticals Korea \u5718\u968a\u7684\u652f\u63f4\u4e0b\u64b0\u5beb\u3002\u4f5c\u8005\u5e0c\u671b\u611f\u8b1d\u5176\u4ed6\u7f55\u898b\u75be\u75c5\u8a3a\u65b7\u5c08\u5bb6\u7684\u610f\u898b\uff0c\u9019\u4e9b\u5c08\u5bb6\u70ba\u672c\u64b0\u5beb\u63d0\u4f9b\u80cc\u666f\u8cc7\u8a0a\uff0c\u5305\u62ec\u97d3\u570b\u5929\u4e3b\u6559\u5927\u5b78\u91ab\u5b78\u9662\u9996\u723e\u8056\u746a\u8389\u91ab\u9662\u5be6\u9a57\u5ba4\u91ab\u5b78\u6559\u6388 Myungshin Kim \u535a\u58eb\u3001MedySapiens \u57f7\u884c\u9577 Sanggoo Kang\uff0c\u4ee5\u53ca 3billion \u57f7\u884c\u9577 Changwon Keum\uff0c\u3002\u00a0<\/em><\/p>\n

\u53c3\u8003\u6587\u737b<\/em>\uff1a<\/p>\n

[1]<\/a> http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483 [2]<\/a>\u00a0Kim, S.Y. \u7b49\u4eba (2022)\u300cThe Korean undiagnosed diseases program phase I: Expansion of the Nationwide Network and the development of long-term infrastructure\u300d\uff0cOrphanet Journal of Rare Diseases\uff0c17(1)\u3002doi:10.1186\/s13023-022-02520-5\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"

Jong-Hee Chae \u6559\u6388\u88ab\u516c\u8a8d\u70ba\u97d3\u570b\u7f55\u898b\u907a\u50b3\u75be\u75c5\u65b9\u9762\u7684\u9802\u5c16\u5c08\u5bb6\u4e4b\u4e00\uff0c\u73fe\u4efb\u97d3\u570b\u9818\u5148\u7684\u5b78\u8853\u6027\u91ab\u7642\u6a5f\u69cb\u4e4b\u4e00\u7684\u9996\u723e\u570b\u7acb\u5927\u5b78\u91ab\u9662 (SNUH) \u81e8\u5e8a\u57fa\u56e0\u91ab\u5b78\u7cfb\u6559\u6388\u548c\u7f55\u898b\u75c5\u4e2d\u5fc3\u4e3b\u4efb\u3002 \u5728\u773e\u591a\u8077\u8cac\u4e2d\uff0cChae \u6559\u6388\u5728\u65e8\u5728\u6539\u5584\u97d3\u570b\u7f55\u898b\u75c5\u8a3a\u65b7\u7684\u6578\u500b\u91cd\u8981\u5c08\u6848\u4e2d\u626e\u6f14\u8457\u95dc\u9375\u89d2\u8272\u3002\u5728\u6700\u8fd1\u8207 Lab Insights \u7684\u8a0e\u8ad6\u4e2d\uff0c\u5979\u5206\u4eab\u5979\u5de5\u4f5c\u7684\u6700\u65b0\u8cc7\u8a0a\u4ee5\u53ca\u5c0d\u65bc\u9700\u8981\u4ec0\u9ebc\u4f86\u7e2e\u77ed\u60a3\u8005\u8a3a\u65b7\u6b77\u7a0b\u7684\u601d\u8003\u3002 SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u81e8\u5e8a\u8a3a\u65b7 SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u6210\u7acb\u65bc 2010 \u5e74\uff0c\u5c07\u81ea\u8eab\u5b9a\u4f4d\u70ba\u97d3\u570b\u9996\u500b\u591a\u5b78\u79d1\u3001\u6574\u5408\u5f0f\u7f55\u898b\u60a3\u8005\u8005\u91ab\u7642\u7cfb\u7d71\u3002\u8eab\u70ba\u4e2d\u5fc3\u4e3b\u4efb\uff0cChae\u6559\u6388\u8ca0\u8cac\u76e3\u7ba1 70 \u591a\u500b\u5152\u79d1\u53ca\u6210\u4eba\u60a3\u8005\u7684\u500b\u5225\u8a3a\u6240\uff08\u5979\u4e5f\u662f\u57f7\u696d\u7684\u5152\u79d1\u795e\u7d93\u79d1\u91ab\u5e2b\uff0c\u4e26\u5728 SNUH \u5152\u7ae5\u91ab\u9662\u770b\u8a3a\uff09\u3002 \u5c0d\u65bc\u5c1a\u672a\u78ba\u8a3a\u7684\u60a3\u8005\uff0cSNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u63d0\u4f9b\u97d3\u570b\u4e00\u4e9b\u6700\u8907\u96dc\u7684\u57fa\u56e0\u6aa2\u6e2c\u64cd\u4f5c\u3002\u96d6\u7136\u5168\u570b\u5927\u591a\u6578\u5152\u7ae5\u91ab\u9662\u90fd\u6709\u80fd\u529b\u9032\u884c\u5e38\u898f\u57fa\u56e0\u6aa2\u6e2c\uff0c\u4f8b\u5982\u4f7f\u7528\u5e02\u552e\u7684 NGS \u8a66\u5291\u76d2\u548c\u5fae\u9663\u5217\uff0c\u4f46 SNUH \u5f80\u5f80\u6703\u63a5\u624b\u6700\u8907\u96dc\u548c\u6700\u5177\u6311\u6230\u6027\u7684\u75c5\u4f8b\u3002 SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u4e00\u500b\u4e3b\u8981\u91cd\u9ede\u9818\u57df\u662f\u5c0d\u6709\u75c7\u72c0\u7684\u60a3\u8005\u9032\u884c\u5feb\u901f\u57fa\u56e0\u7d44\u6e2c\u5e8f\u3002\u8207\u901a\u5e38\u9700\u8981\u6578\u6708\u624d\u80fd\u5b8c\u6210\u7684\u5e38\u898f\u57fa\u56e0\u6aa2\u6e2c\u76f8\u6bd4\uff0cChae \u6559\u6388\u7684\u4e2d\u5fc3\u901a\u5e38\u80fd\u5920\u5728\u5e7e\u9031\u6216\u66f4\u77ed\u7684\u6642\u9593\u5167\u63d0\u4f9b\u7d50\u679c\uff0c\u5c24\u5176\u662f\u5c0d\u65bc\u65b0\u751f\u5152\u6216\u5152\u79d1\u52a0\u8b77\u75c5\u623f\u7684\u7dca\u6025\u75c5\u4f8b\u3002\u97d3\u570b\u570b\u5bb6\u5065\u5eb7\u4fdd\u96aa\u8a08\u756b\u4e0d\u6db5\u84cb\u9019\u4e9b\u5feb\u901f\u670d\u52d9\uff0c\u4f46\u6709\u6642\u8cc7\u91d1\u53ef\u4ee5\u900f\u904e\u91ab\u9662\u3001\u516c\u5171\u885b\u751f\u5c08\u6848\u6216\u5728\u5730\u975e\u653f\u5e9c\u7d44\u7e54\u7372\u5f97\u3002 SNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684\u4e00\u7a2e\u5feb\u901f\u6aa2\u6e2c\u65b9\u6cd5\u662f\uff0c\u7531 Chae \u6559\u6388\u8207 MedySapiens \u5171\u540c\u958b\u767c\u7684 NGS \u5c0f\u7d44\uff0c\u9019\u662f\u4e00\u5bb6\u5728\u5730\u79c1\u4eba\u516c\u53f8\uff0c\u5728\u5c16\u7aef AI\u3001\u751f\u7269\u8cc7\u8a0a\u5b78\u548c\u57fa\u56e0\u7d44\u5b78\u7684\u4ea4\u53c9\u9ede\u958b\u767c\u7522\u54c1\u548c\u670d\u52d9\u3002\u8a72\u7d44\u5408\u6db5\u84cb\u7d04 270 \u500b\u57fa\u56e0\uff0c\u4e3b\u8981\u91dd\u5c0d\u97d3\u570b\u53ef\u9032\u884c\u9ad8\u6548\u6cbb\u7642\u7684\u75c5\u75c7\u3002\u6b64\u57fa\u56e0\u6e05\u55ae\u6703\u5b9a\u671f\u66f4\u65b0\uff0c\u4ee5\u638c\u63e1\u57fa\u56e0\u91ab\u5b78\u8207\u88dc\u52a9\u7684\u6700\u65b0\u767c\u5c55\u3002 Chae \u6559\u6388\u8868\u793a\uff0c\u8207\u97d3\u570b\u66f4\u5168\u9762\u7684\u5b9a\u5e8f\u670d\u52d9\u76f8\u6bd4\uff0cSNUH \u7f55\u898b\u75c5\u4e2d\u5fc3\u7684 NGS \u8a66\u5291\u76d2\u6210\u672c\u66f4\u4f4e\uff0c\u9031\u8f49\u6642\u9593\u66f4\u5feb\u3002\u5b83\u4e5f\u53ef\u4ee5\u8207\u97d3\u570b\u5e7e\u4e4e\u6240\u6709\u65b0\u751f\u5152\u63a5\u53d7\u7684\u6a19\u6e96\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u76f8\u540c\u7684\u4e7e\u8840\u6591 (DBS) \u6750\u6599\u4e00\u8d77\u4f7f\u7528\uff0c\u56e0\u6b64\u4e0d\u4e00\u5b9a\u9700\u8981\u984d\u5916\u62bd\u8840\u6216\u5927\u91cf\u6a23\u672c\uff0c\u9019\u6709\u6642\u4e0d\u9069\u5408\u65b0\u751f\u5152\u6216\u5371\u6025\u72c0\u6cc1\u4e2d\u7684\u5152\u7ae5\u3002 \u5c0d\u65bc\u7591\u4f3c\u60a3\u6709\u672c\u8a66\u5291\u76d2\u4e0d\u9069\u7528\u4e4b\u75c5\u75c7\u6216\u5df2\u5728\u5176\u4ed6\u4e2d\u5fc3\u9032\u884c\u66f4\u5e38\u898f\u4e4b\u57fa\u56e0\u6aa2\u6e2c\u4e4b\u60a3\u8005\uff0c\u53e6\u4e00\u7a2e\u9078\u64c7\u70ba\u9032\u884c\u57fa\u65bc\u4e09\u4f4d\u57fa\u56e0\u4e4b\u5feb\u901f\u5168\u5916\u986f\u5b50\u7d44\u6216\u57fa\u56e0\u9ad4\u5b9a\u5e8f (rWES\/rWGS)\u3002Chae \u6559\u6388\u8aaa\uff0c\u9019\u6bd4\u8a66\u5291\u76d2\u6aa2\u6e2c\u66f4\u6709\u53ef\u80fd\u5f97\u5230\u7d50\u679c\uff0c\u4f46\u9084\u9700\u8981\u5f9e\u60a3\u8005\u548c\u7236\u6bcd\u96d9\u65b9\u8eab\u4e0a\u62bd\u53d6\u984d\u5916\u7684\u8840\u6db2\uff0c\u4ee5\u53ca\u66f4\u591a\u7684\u81e8\u5e8a\u548c\u8cc7\u8a0a\u5b78\u5c08\u696d\u77e5\u8b58\u4f86\u89e3\u91cb\u7d50\u679c\u3002 rWES \u548c rWGS \u7684\u6210\u672c\u4e5f\u6bd4\u8a66\u5291\u76d2\u6e2c\u8a66\u66f4\u9ad8\u3002\u9019\u4e9b\u75be\u75c5\u4e0d\u5c6c\u65bc\u570b\u5bb6\u4fdd\u96aa\u7684\u4fdd\u969c\u7bc4\u570d\uff0c\u4f46\u6709\u6642\u53ef\u4ee5\u900f\u904e\u674e\u5065\u7199\u5152\u7ae5\u764c\u75c7\u8207\u7f55\u898b\u75c5\u8a08\u756b\u7b49\u8a08\u756b\u7372\u5f97\u7d93\u8cbb\uff0c\u9019\u662f\u4e00\u9805\u70ba\u671f 10 […]<\/p>\n","protected":false},"author":1,"featured_media":141381,"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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"tags":[12712,12421,12715,12700],"pillarandcategory":[294,282,293,309,326],"reporter":[12732],"class_list":["post-141380","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-12712","tag-12421","tag-12715","tag-12700","pillarandcategory-rare-diseases","pillarandcategory-disease-area","pillarandcategory-newborn-screening","pillarandcategory-operations","pillarandcategory-sequencing","reporter-chae-jong-hee"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/acf_article\/141380","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/acf_article"}],"about":[{"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/types\/acf_article"}],"author":[{"embeddable":true,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":4,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/acf_article\/141380\/revisions"}],"predecessor-version":[{"id":144956,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/acf_article\/141380\/revisions\/144956"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/media\/141381"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/media?parent=141380"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/tags?post=141380"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/pillarandcategory?post=141380"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/zhtw\/wp-json\/wp\/v2\/reporter?post=141380"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}