{"id":145648,"date":"2023-01-27T01:11:28","date_gmt":"2023-01-27T01:11:28","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e6%be%b3%e5%a4%a7%e5%88%a9%e4%ba%9a%e9%bb%98%e5%a4%9a%e5%85%8b%e5%84%bf%e7%ab%a5%e4%b8%ad%e5%bf%83%e7%9a%84%e6%96%b0%e7%94%9f%e5%84%bf%e7%ad%9b%e6%9f%a5%e5%88%9b%e6%96%b0%e5%8d%87%e7%ba%a7\/"},"modified":"2026-02-05T13:31:27","modified_gmt":"2026-02-05T13:31:27","slug":"newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/rare-diseases\/newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia\/","title":{"rendered":"\u6fb3\u5927\u5229\u4e9a\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u521b\u65b0\u5347\u7ea7"},"content":{"rendered":"

\u968f\u7740\u6fb3\u5927\u5229\u4e9a\u5404\u5730\u5bf9\u65b0\u751f\u513f\u8840\u6591\u7b5b\u67e5 (NBS) \u7684\u5174\u8da3\u548c\u6295\u8d44\u4e0d\u65ad\u589e\u957f\uff0c\u58a8\u5c14\u672c\u7684\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u4f5c\u4e3a\u6fb3\u5927\u5229\u4e9a NBS \u7814\u7a76\u548c\u521b\u65b0\u7684\u91cd\u8981\u4e2d\u5fc3\uff0c\u6b63\u5728\u84ec\u52c3\u53d1\u5c55\u3002<\/p>\n

\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u4f4d\u4e8e\u6fb3\u5927\u5229\u4e9a\u4e1c\u5357\u90e8\u7ef4\u591a\u5229\u4e9a\u5dde\u9996\u5e9c\u58a8\u5c14\u672c\uff0c\u662f\u4e16\u754c\u4e0a\u6700\u5927\u7684\u513f\u7ae5\u5065\u5eb7\u7814\u7a76\u673a\u6784\u4e4b\u4e00\u3002\u5b83\u8d1f\u8d23\u7ba1\u7406\u4e00\u7cfb\u5217\u7814\u7a76\u9879\u76ee\uff0c\u4e3a\u6fb3\u5927\u5229\u4e9a\u548c\u4e16\u754c\u5404\u5730\u7684\u513f\u7ae5\u521b\u9020\u77e5\u8bc6\u548c\u63a8\u52a8\u798f\u5229\u3002\u5b83\u4e5f\u63d0\u4f9b\u90e8\u5206\u4e34\u5e8a\u670d\u52a1\uff0c\u5305\u62ec\u7ef4\u591a\u5229\u4e9a\u5dde\u7684 NBS \u9879\u76ee\u3002<\/p>\n

\u5c3d\u7ba1\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u7684\u77e5\u540d\u5ea6\u8fdc\u8fdc\u4e0d\u6b62\u4e8e NBS \u548c\u4e34\u5e8a\u9057\u4f20\u5b66\uff0c\u4f46\u4f46\u5176\u5728\u8fd9\u4e00\u7279\u5b9a\u9886\u57df\u7684\u5f71\u54cd\u540c\u6837\u503c\u5f97\u5173\u6ce8\uff0c\u800c\u4e14\u6b63\u4e0d\u65ad\u589e\u5f3a\u3002 \u4ece\u6269\u5927\u73b0\u6709 NBS \u9879\u76ee\u7ec4\u5408\u5230\u5f00\u53d1\u68c0\u6d4b\u65b0\u751f\u513f\u7f55\u89c1\u9057\u4f20\u75be\u75c5\u7684\u65b0\u65b9\u6cd5\uff0c\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u6b63\u5728\u5f00\u5c55\u4e00\u7cfb\u5217\u9879\u76ee\uff0c\u5c55\u793a NBS \u4f5c\u4e3a\u516c\u5171\u536b\u751f\u5de5\u5177\u7684\u529b\u91cf\uff0c\u4ee5\u53ca\u5176\u5728\u672a\u6765\u51e0\u5e74\u8fdb\u4e00\u6b65\u9020\u798f\u516c\u4f17\u7684\u6f5c\u529b\u3002<\/p>\n

\u6269\u5c55\u73b0\u6709\u7684 NBS \u9879\u76ee\u7ec4\u5408<\/h2>\n

\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u901a\u8fc7 Victorian Clinical Genetics Services (VCGS) \u63d0\u4f9b NBS \u670d\u52a1\uff0c\u8fd9\u662f\u4e00\u5bb6\u975e\u76c8\u5229\u6027\u5b50\u516c\u53f8\uff0c\u63d0\u4f9b\u4ea7\u524d\u3001\u513f\u7ae5\u548c\u6210\u4eba\u9057\u4f20\u5b66\u670d\u52a1\u3002VCGS \u7684\u6240\u6709 NBS \u670d\u52a1\u5747\u7531\u7ef4\u591a\u5229\u4e9a\u5dde\u536b\u751f\u90e8\u4ee5\u516c\u5171\u540d\u4e49\u6775\u5b50\uff0c\u5e76\u5411\u5dde\u5c45\u6c11\u514d\u8d39\u63d0\u4f9b\u3002<\/p>\n

\u5728\u5176\u6807\u51c6 NBS \u9879\u76ee\u7ec4\u5408\u4e2d\uff0cVCGS \u5f53\u524d\u7b5b\u9009\u4e86 26 \u4e2a\u75be\u75c5\u3002\u53bb\u5e74\uff0cVCGS \u7eb3\u5165\u4e86\u5148\u5929\u6027\u80be\u4e0a\u817a\u589e\u751f\u75c7\u3002\u4e3a\u914d\u5408\u8054\u90a6\u653f\u5e9c\u5728\u5404\u5dde\u6269\u5927\u5e76\u7edf\u4e00 NBS \u9879\u76ee\u7ec4\u5408\u7684\u5de5\u4f5c\uff0cVCGS \u76ee\u524d\u6b63\u7740\u624b\u589e\u52a0\u5bf9\u810a\u9ad3\u6027\u808c\u840e\u7f29\u75c7 (SMA) \u548c\u91cd\u75c7\u8054\u5408\u514d\u75ab\u7f3a\u9677 (SCID) \u7684 NBS \u7b5b\u67e5\u3002\u8fd9\u4e24\u9879\u68c0\u6d4b\u8fd1\u671f\u5df2\u5728\u90bb\u8fd1\u7684\u65b0\u5357\u5a01\u5c14\u58eb\u5dde\u5f00\u653e\u3002<\/p>\n

VCGS \u751f\u5316\u9057\u4f20\u5b66\u526f\u4e3b\u7ba1 Ronda Greaves \u535a\u58eb\u6307\u51fa\uff0c\u54ea\u6015\u53ea\u662f\u4e3a NBS \u9879\u76ee\u7ec4\u5408\u65b0\u589e\u4e00\u9879\u7b5b\u67e5\u75be\u75c5\uff0c\u4e5f\u9700\u8981\u4ed8\u51fa\u76f8\u5f53\u5927\u7684\u52aa\u529b\u3002SMA\/SCID \u68c0\u6d4b\u5c06\u9996\u6b21\u8981\u6c42\u56e2\u961f\u5728\u521d\u7b5b\u73af\u8282\u4e2d\u91c7\u7528\u5206\u5b50\u68c0\u6d4b\u65b9\u6cd5\uff0c\u4f46 Greaves \u8868\u793a\uff0c\u6280\u672f\u672c\u8eab\u7684\u5f15\u5165\u76f8\u5bf9\u5bb9\u6613\u3002\u66f4\u96be\u7684\u662f\u57f9\u8bad\u5458\u5de5\u9002\u5e94\u4e0d\u65ad\u53d8\u5316\u7684\u5de5\u4f5c\u6d41\u7a0b\uff0c\u540c\u65f6\u4e0d\u635f\u5bb3\u73b0\u6709 NBS \u9879\u76ee\u7684\u5b8c\u6574\u6027\u3002<\/p>\n

\u5728\u7814\u7a76\u4e2d\u5f00\u5c55\u793e\u533a\u6559\u80b2\u4e0e\u53c2\u4e0e<\/h2>\n

\u9664\u4e86\u7ba1\u7406 NBS \u670d\u52a1\uff0c\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u8fd8\u652f\u6301\u793e\u533a\u5916\u5c55\u5de5\u4f5c\uff0c\u786e\u4fdd NBS \u670d\u52a1\u5f97\u5230\u5e7f\u6cdb\u63a5\u53d7\uff0c\u5e76\u5e2e\u52a9\u7ef4\u6301\u516c\u4f17\u4fe1\u4efb\u3002\u7ef4\u591a\u5229\u4e9a\u9057\u4f20\u652f\u6301\u7f51\u7edc\u8d1f\u8d23\u4eba Monica Ferrie \u8868\u793a\uff0c\u8fd1\u5e74\u6765\uff0c\u8fd9\u65b9\u9762\u7684\u52aa\u529b\u6709\u6240\u52a0\u5f3a\u3002\u8be5\u7ec4\u7ec7\u4e0e\u5168\u5dde\u7f55\u89c1\u75c5\u60a3\u8005\u56e2\u4f53\u548c\u5bb6\u5ead\u5408\u4f5c\u3002<\/p>\n

\u79ef\u6781\u7684\u793e\u533a\u53c2\u4e0e\u4e5f\u63a8\u52a8\u4e86\u5bf9 NBS \u7814\u7a76\u9879\u76ee\u7684\u652f\u6301\u3002\u636e VCGS \u9996\u5e2d\u6267\u884c\u5b98 Meg Wall \u535a\u58eb\u4f30\u8ba1\uff0c\u5728\u63a5\u53d7 NBS \u670d\u52a1\u7684\u7236\u6bcd\u4e2d\uff0c\u7ea6\u6709 85% \u81f3 90% \u540c\u610f\u4e0e\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u8c03\u67e5\u4eba\u5458\u5171\u4eab\u53bb\u6807\u8bc6\u5316\u7684\u65b0\u751f\u513f\u8840\u6591\u6570\u636e\u3002<\/p>\n

NBS \u7684\u90e8\u5206\u6570\u636e\u8fd8\u4e0e\u7ef4\u591a\u5229\u4e9a\u5dde\u4e16\u4ee3 (GenV) \u8ba1\u5212\u6709\u5173\uff0c\u8fd9\u662f\u4e00\u9879\u8017\u8d44 5500 \u4e07\u7f8e\u5143\u7684\u5168\u5dde\u81ea\u7136\u53f2\u7814\u7a76\uff0c\u65e8\u5728\u5230 2023 \u5e74\u5e95\u62db\u52df 10 \u4e07\u65b0\u751f\u513f [1]\u3002\u901a\u8fc7 GenV\uff0c\u65b0\u751f\u513f\u7236\u6bcd\u5c06\u5206\u4eab\u6709\u5173\u5404\u79cd\u5065\u5eb7\u3001\u793e\u4f1a\u548c\u53d1\u80b2\u53c2\u6570\u7684\u7eb5\u5411\u6570\u636e\u3002\u8fd9\u5c06\u4fc3\u8fdb\u8bb8\u591a\u7c7b\u578b\u7684\u7814\u7a76\uff0c\u5305\u62ec\u66f4\u597d\u5730\u4e86\u89e3 NBS \u65b9\u6848\u7684\u4e34\u5e8a\u6548\u7528\u548c\u7ecf\u6d4e\u5f71\u54cd\u3002<\/p>\n

\u5f00\u53d1\u548c\u6d4b\u8bd5\u65b0\u578b NBS \u65b9\u6cd5<\/h2>\n

\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u8fd8\u4e3a\u4e13\u6ce8\u4e8e\u521b\u9020\u548c\u8bc4\u4f30\u65b0 NBS \u6a21\u5f0f\u7684\u7814\u7a76\u4eba\u5458\u63d0\u4f9b\u652f\u6301\u3002\u5176\u4e2d\u4e00\u4f4d\u7814\u7a76\u8005\u662f\u5206\u5b50\u9057\u4f20\u5b66\u5bb6 David Godler\uff0c\u4ed6\u9886\u5bfc\u7740\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u7684\u8bca\u65ad\u548c\u53d1\u5c55\u5b9e\u9a8c\u5ba4\u3002Godler \u76ee\u524d\u6b63\u5728\u5f00\u53d1\u4e00\u79cd\u79f0\u4e3a EpiGNs<\/strong>\u7684\u4f4e\u6210\u672c\u8bca\u65ad\u65b9\u6cd5\uff0c\u5b83\u7ed3\u5408\u4f7f\u7528 DNA \u7532\u57fa\u5316\u6d4b\u8bd5\u548c\u57fa\u56e0\u7ec4\u5de5\u4f5c\u6d41\u7a0b\u6765\u6269\u5c55 NBS \u9879\u76ee\u7ec4\u5408\u3002<\/p>\n

\u5728\u4ee5\u5f80\u7814\u7a76\u4e2d\uff0cEpiGNs \u663e\u793a\u51fa\u826f\u597d\u524d\u666f\uff0c\u4f5c\u4e3a\u4e00\u79cd\u5177\u6709\u6210\u672c\u6548\u76ca\u7684\u65b9\u6cd5\uff0c\u6709\u671b\u5c06 NBS \u9879\u76ee\u7ec4\u5408\u6269\u5c55\u81f3\u6db5\u76d6\u591a\u79cd\u75c5\u75c7\uff0c\u5305\u62ec\u8106\u6027 X \u7efc\u5408\u5f81\u3001Prader-Willi \u7efc\u5408\u5f81\u3001Angelman \u7efc\u5408\u5f81\u548c Dup15q \u7efc\u5408\u5f81\u7b49[2]\u30022022 \u5e74\uff0cGodler \u4ece\u533b\u5b66\u7814\u7a76\u672a\u6765\u57fa\u91d1 (MRFF) \u83b7\u5f97\u4e86 300 \u4e07\u7f8e\u5143\u7684\u62e8\u6b3e [3]\uff0c\u5e76\u4ece\u56fd\u5bb6\u536b\u751f\u548c\u533b\u5b66\u7814\u7a76\u59d4\u5458\u4f1a\u521b\u610f\u62e8\u6b3e\u4e2d\u83b7\u5f97\u4e86 180 \u4e07\u7f8e\u5143\u7684\u989d\u5916\u62e8\u6b3e\uff0c\u7528\u4e8e\u8fdb\u4e00\u6b65\u53d1\u5c55\u8fd9\u9879\u5de5\u4f5c [4]\u3002<\/p>\n

\u4e0b\u4e00\u6b65\uff0cGodler \u6253\u7b97\u5229\u7528\u8fd9\u4e24\u7b14\u62e8\u6b3e\uff0c\u5728\u4e00\u4e2a\u6269\u5c55\u7684\u9879\u76ee\u7ec4\u5408\u4e0a\u6d4b\u8bd5\u4ed6\u7684 EpiGNs \u65b9\u6cd5\uff0c\u8be5\u9879\u76ee\u7ec4\u5408\u6db5\u76d6 8 \u79cd\u75be\u75c5\uff0c\u4ece\u800c\u8fdb\u4e00\u6b65\u83b7\u53d6\u5176\u6f5c\u5728\u6210\u672c\u6548\u76ca\u548c\u4e34\u5e8a\u5b9e\u7528\u6027\u7684\u76f8\u5173\u6570\u636e\u3002\u5176\u4e2d\u4e00\u90e8\u5206\u7814\u7a76\u5c06\u5229\u7528 GenV \u8ba1\u5212\uff0c\u52a9\u529b Godler \u80fd\u591f\u8bc4\u4f30\u65e9\u671f\u53d1\u73b0\u9057\u4f20\u6027\u75be\u75c5\u5bf9\u957f\u671f\u4e34\u5e8a\u548c\u5065\u5eb7\u7ecf\u6d4e\u7ed3\u679c\u7684\u5f71\u54cd\u3002<\/p>\n

\u8bc4\u4f30\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u7684\u529f\u6548<\/h2>\n

\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u7684\u53e6\u4e00\u4f4d\u83b7\u5f97 MRFF \u8d44\u52a9\u7684\u7814\u7a76\u8005\u662f Seb Lunke \u535a\u58eb\uff0c\u4ed6\u62c5\u4efb VCGS \u57fa\u56e0\u4e0e\u57fa\u56e0\u7ec4\u5b66\u90e8\u7684\u8d1f\u8d23\u4eba\uff0c\u4e3b\u7ba1\u6fb3\u5927\u5229\u4e9a\u6700\u5927\u7684\u4e34\u5e8a\u9057\u4f20\u5b66\u5b9e\u9a8c\u5ba4\u4e4b\u4e00\u3002\u53bb\u5e74\uff0cLunke \u4ece MRFF \u83b7\u5f97\u4e86 300 \u4e07\u6fb3\u5143\u7684\u8d44\u52a9\uff0c\u7528\u4e8e\u8bc4\u4f30 NBS \u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u7684\u4f5c\u7528\u3002<\/p>\n

\u5728\u8be5\u9879\u76ee\u7684\u7b2c\u4e00\u9636\u6bb5\uff08BabyScreen+<\/strong>\uff09\uff0cLunke \u5c06\u5728\u7ef4\u591a\u5229\u4e9a\u5dde\u5bf9\u4e00\u5343\u540d\u65b0\u751f\u513f\u5f00\u5c55\u57fa\u4e8e WGS \u7684 NBS \u6a21\u578b\u8bd5\u9a8c\u3002\u5c3d\u7ba1 WGS \u80fd\u591f\u7b5b\u67e5\u6f5c\u5728\u7684\u6570\u5343\u79cd\u75be\u75c5\uff0c\u4f46 Lunke \u5c06\u4ece\u6db5\u76d6\u6570\u767e\u79cd\u75be\u75c5\u7684\u9879\u76ee\u7ec4\u5408\u7740\u624b\uff0c\u8fd9\u4e9b\u75be\u75c5\u5df2\u5f97\u5230\u5145\u5206\u9a8c\u8bc1\uff0c\u5177\u5907\u660e\u786e\u7684\u4e34\u5e8a\u53ef\u64cd\u4f5c\u6027\uff0c\u5e76\u7b26\u5408\u9884\u5148\u8bbe\u5b9a\u7684\u751f\u7269\u4f26\u7406\u6807\u51c6\u3002\u6700\u7ec8\u76ee\u6807\u662f\u66f4\u597d\u5730\u7406\u89e3\u5982\u4f55\u5728\u65b0\u751f\u513f\u51fa\u751f\u65f6\u4ee5\u53ca\u6574\u4e2a\u540e\u7eed\u7167\u62a4\u8fc7\u7a0b\u4e2d\u8d1f\u8d23\u4efb\u5730\u4f7f\u7528 WGS \u6570\u636e\u3002<\/p>\n

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\u6784\u5efa\u66f4\u5e7f\u6cdb\u7684\u7f55\u89c1\u75c5\u8bca\u65ad\u751f\u6001\u7cfb\u7edf<\/h2>\n

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\u8fd9\u4e9b\u9886\u57df\u7684\u8fdb\u5c55\u53ef\u80fd\u4f1a\u5851\u9020 NBS \u7684\u672a\u6765\u3002\u968f\u7740\u6fb3\u5927\u5229\u4e9a\u5728\u8fd9\u4e00\u4ee4\u4eba\u632f\u594b\u7684\u9886\u57df\u6301\u7eed\u63a8\u8fdb\u7814\u7a76\u4e0e\u521b\u65b0\uff0c\u9ed8\u591a\u514b\u513f\u7ae5\u4e2d\u5fc3\u548c VCGS \u5c06\u7ee7\u7eed\u662f\u5907\u53d7\u5173\u6ce8\u7684\u5173\u952e\u673a\u6784\u3002<\/p>\n

\u672c\u6587\u7531 Roche Diagnostics \u4e9a\u592a\u533a\u533b\u7597\u5408\u4f5c\u4e8b\u52a1\u7ecf\u7406 Will Greene \u64b0\u5199\uff0c\u4ed6\u540c\u65f6\u4e5f\u662f Project Strongbow \u7684\u8054\u5408\u8d1f\u8d23\u4eba\u3002\u8be5\u9879\u76ee\u65e8\u5728\u901a\u8fc7\u6559\u80b2\u5185\u5bb9\u548c\u793e\u533a\u5efa\u8bbe\uff0c\u63a8\u52a8 NBS \u9886\u57df\u7684\u6700\u4f73\u5b9e\u8df5\u3002\u5236\u4f5c\u7684\u5176\u4ed6\u6587\u7ae0\u548c\u89c6\u9891\uff08\u4f5c\u4e3a\u672c\u9879\u76ee\u6784\u6210\u90e8\u5206\uff09\u53ef\u4ee5\u5728\u6211\u4eec\u7684 \u201c\u65b0\u751f\u513f\u7b5b\u67e5\u201d\u9875\u9762\u4e0a\u627e\u5230\u3002\u00a0<\/a><\/em><\/p>\n

\n

\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

\n[1] <\/a>Generation Victoria.Available\u00a0at: https:\/\/www.genv.org.au\/
\n[2]<\/a> Should newborn screening include chromosome 15q disorders?Lab Insights.<\/em> Available at: https:\/\/labinsights.com\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/
\n[3] <\/a>Federal funding for genomics projects aiming to improve child health (Sept 2022).MurdochChildren’s Research Institute.<\/em> Available at: https:\/\/www.mcri.edu.au\/news-stories\/federal-funding-for-genomics-projects-aiming-to-improve-child-health
\n[4] <\/a>Federal grants to advance earlier diagnosis and treatments for childhood conditions (Dec 2022).MurdochChildren’s Research Institute.<\/em> https:\/\/www.mcri.edu.au\/news-stories\/federal-grants-advance-diagnosis-treatments-childhood-conditions<\/p>\n","protected":false},"excerpt":{"rendered":"

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