{"id":81963,"date":"2026-01-03T18:23:26","date_gmt":"2026-01-03T09:23:26","guid":{"rendered":"https:\/\/www.marketresearch.co.jp\/insights\/rare-disease-genetic-testing-market-mordor\/"},"modified":"2026-04-03T01:47:48","modified_gmt":"2026-04-02T16:47:48","slug":"rare-disease-genetic-testing-market-mordor","status":"publish","type":"post","link":"https:\/\/www.marketresearch.co.jp\/insights\/rare-disease-genetic-testing-market-mordor\/","title":{"rendered":"\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\uff1a\u5e02\u5834\u898f\u6a21\u30fb\u30b7\u30a7\u30a2\u5206\u6790\u3001\u6210\u9577\u52d5\u5411\u3068\u4e88\u6e2c (2025-2030\u5e74)"},"content":{"rendered":"<p><img decoding=\"async\" src=\"https:\/\/www.marketresearch.co.jp\/insights\/wp-content\/uploads\/2026\/01\/rare-disease-genetic-testing-market_1668692658408_Rare_Disease.webp\" alt=\"Chart\" class=\"aligncenter size-full\" \/><\/p>\n<p><img decoding=\"async\" src=\"https:\/\/www.marketresearch.co.jp\/insights\/wp-content\/uploads\/2026\/01\/rare-disease-genetic-testing-market-size-image-1735464748862.webp\" alt=\"Chart\" class=\"aligncenter size-full\" \/><\/p>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-0\">\n    1. \u306f\u3058\u3081\u306b<\/p>\n<ul>\n<li class=\"toc-level-2\">\n          1.1 \u8abf\u67fb\u306e\u524d\u63d0\u6761\u4ef6 &amp; \u5e02\u5834\u306e\u5b9a\u7fa9<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          1.2 \u8abf\u67fb\u7bc4\u56f2<\/p>\n<\/li>\n<\/ul>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-1\">\n    2. \u8abf\u67fb\u65b9\u6cd5<\/p>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-2\">\n    3. \u30a8\u30b0\u30bc\u30af\u30c6\u30a3\u30d6\u30b5\u30de\u30ea\u30fc<\/p>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-3\">\n    4. \u5e02\u5834\u6982\u6cc1<\/p>\n<ul>\n<li class=\"toc-level-2\">\n          4.1 \u5e02\u5834\u6982\u8981<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          4.2 \u5e02\u5834\u306e\u63a8\u9032\u8981\u56e0<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          4.2.1 \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u30b3\u30b9\u30c8\u4f4e\u4e0b<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.2.2 \u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306b\u5bfe\u3059\u308b\u56fd\u306e\u511f\u9084\u62e1\u5927<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.2.3 AI\u5f37\u5316\u578b\u30d0\u30ea\u30a2\u30f3\u30c8\u89e3\u91c8\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.2.4 \u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u4ecb\u3057\u305f\u30d0\u30a4\u30aa\u533b\u85ac\u54c1\u6cbb\u9a13\u53c2\u52a0\u8005\u306e\u52df\u96c6<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.2.5 \u65b0\u751f\u5150\u30b2\u30ce\u30e0\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30d1\u30a4\u30ed\u30c3\u30c8\u30d7\u30ed\u30b0\u30e9\u30e0<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.2.6 \u65b0\u8208\u5e02\u5834\u306b\u304a\u3051\u308b\u30dd\u30fc\u30bf\u30d6\u30eb\u9577\u9396\u30ea\u30fc\u30c9\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          4.3 \u5e02\u5834\u306e\u963b\u5bb3\u8981\u56e0<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          4.3.1 \u9ad8\u984d\u306a\u81ea\u5df1\u8ca0\u62c5\u8cbb\u7528\u3068\u9650\u3089\u308c\u305f\u652f\u6255\u3044\u8005\u306b\u3088\u308b\u88dc\u511f<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.3.2 \u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306e\u4e0d\u8db3<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.3.3 \u65ad\u7247\u7684\u306a\u30b2\u30ce\u30e0\u30d7\u30e9\u30a4\u30d0\u30b7\u30fc\u898f\u5236<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.3.4 \u975e\u30b3\u30fc\u30c9\/\u8d85\u5e0c\u5c11\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u8a3a\u65ad\u53ce\u7387\u306e\u4f4e\u3055<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          4.4 \u30d0\u30ea\u30e5\u30fc\/\u30b5\u30d7\u30e9\u30a4\u30c1\u30a7\u30fc\u30f3\u5206\u6790<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          4.5 \u898f\u5236\u74b0\u5883<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          4.6 \u6280\u8853\u7684\u5c55\u671b<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          4.7 \u30dd\u30fc\u30bf\u30fc\u306e5\u3064\u306e\u529b<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          4.7.1 \u65b0\u898f\u53c2\u5165\u8005\u306e\u8105\u5a01<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.7.2 \u4f9b\u7d66\u8005\u306e\u4ea4\u6e09\u529b<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.7.3 \u8cb7\u3044\u624b\u306e\u4ea4\u6e09\u529b<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.7.4 \u4ee3\u66ff\u54c1\u306e\u8105\u5a01<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          4.7.5 \u7af6\u4e89\u4e0a\u306e\u5bfe\u6297\u95a2\u4fc2<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-4\">\n    5. \u5e02\u5834\u898f\u6a21\u3068\u6210\u9577\u4e88\u6e2c<\/p>\n<ul>\n<li class=\"toc-level-2\">\n          5.1 \u691c\u67fb\u30bf\u30a4\u30d7\u5225\uff08\u91d1\u984d\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          5.1.1 \u5358\u4e00\u907a\u4f1d\u5b50\u691c\u67fb<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.1.2 \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.1.3 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.1.4 \u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          5.2 \u6280\u8853\u5225\uff08\u91d1\u984d\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          5.2.1 \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.2.2 \u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.2.3 PCR\u30d9\u30fc\u30b9\u691c\u67fb<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          5.3 \u30b5\u30f3\u30d7\u30eb\u30bf\u30a4\u30d7\u5225\uff08\u91d1\u984d\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          5.3.1 \u8840\u6db2<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.3.2 \u553e\u6db2\/\u53e3\u8154\u30b9\u30ef\u30d6<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.3.3 \u7f8a\u6c34\/\u7d68\u6bdb\uff08\u51fa\u751f\u524d\uff09<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          5.4 \u9069\u5fdc\u75c7\u5225\uff08\u91d1\u984d\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          5.4.1 \u795e\u7d4c\u75be\u60a3<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.4.2 \u4ee3\u8b1d\u6027\u75be\u60a3<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.4.3 \u514d\u75ab\u30fb\u8840\u6db2\u75be\u60a3<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.4.4 \u305d\u306e\u4ed6<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<li class=\"toc-level-2\">\n          5.5 \u5730\u57df\u5225\uff08\u91d1\u984d\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          5.5.1 \u5317\u7c73<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.1.1 \u7c73\u56fd<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.1.2 \u30ab\u30ca\u30c0<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.1.3 \u30e1\u30ad\u30b7\u30b3<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.5.2 \u6b27\u5dde<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.1 \u30c9\u30a4\u30c4<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.2 \u82f1\u56fd<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.3 \u30d5\u30e9\u30f3\u30b9<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.4 \u30a4\u30bf\u30ea\u30a2<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.5 \u30b9\u30da\u30a4\u30f3<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.2.6 \u305d\u306e\u4ed6\u306e\u6b27\u5dde<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.5.3 \u30a2\u30b8\u30a2\u592a\u5e73\u6d0b<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.1 \u4e2d\u56fd<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.2 \u30a4\u30f3\u30c9<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.3 \u65e5\u672c<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.4 \u97d3\u56fd<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.5 \u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.3.6 \u305d\u306e\u4ed6\u306e\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.5.4 \u5357\u7c73<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.4.1 \u30d6\u30e9\u30b8\u30eb<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.4.2 \u30a2\u30eb\u30bc\u30f3\u30c1\u30f3<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.4.3 \u305d\u306e\u4ed6\u306e\u5357\u7c73<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          5.5.5 \u4e2d\u6771\u304a\u3088\u3073\u30a2\u30d5\u30ea\u30ab<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.5.1 GCC<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.5.2 \u5357\u30a2\u30d5\u30ea\u30ab<\/p>\n<\/li>\n<li class=\"toc-level-4\">\n          5.5.5.3 \u305d\u306e\u4ed6\u306e\u4e2d\u6771\u304a\u3088\u3073\u30a2\u30d5\u30ea\u30ab<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-5\">\n    6. \u7af6\u5408\u60c5\u52e2<\/p>\n<ul>\n<li class=\"toc-level-2\">\n          6.1 \u5e02\u5834\u96c6\u4e2d\u5ea6<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          6.2 \u5e02\u5834\u30b7\u30a7\u30a2\u5206\u6790<\/p>\n<\/li>\n<li class=\"toc-level-2\">\n          6.3 \u4f01\u696d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\uff08\u30b0\u30ed\u30fc\u30d0\u30eb\u30ec\u30d9\u30eb\u306e\u6982\u8981\u3001\u5e02\u5834\u30ec\u30d9\u30eb\u306e\u6982\u8981\u3001\u4e3b\u8981\u30bb\u30b0\u30e1\u30f3\u30c8\u3001\u5229\u7528\u53ef\u80fd\u306a\u8ca1\u52d9\u60c5\u5831\u3001\u6226\u7565\u60c5\u5831\u3001\u4e3b\u8981\u4f01\u696d\u306e\u5e02\u5834\u30e9\u30f3\u30af\/\u30b7\u30a7\u30a2\u3001\u88fd\u54c1&amp;\u30b5\u30fc\u30d3\u30b9\u3001\u304a\u3088\u3073\u6700\u8fd1\u306e\u52d5\u5411\u3092\u542b\u3080\uff09<\/p>\n<ul>\n<li class=\"toc-level-3\">\n          6.3.1 Illumina<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.2 Thermo Fisher Scientific<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.3 F. Hoffmann-La Roche<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.4 Qiagen<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.5 Agilent Technologies<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.6 Invitae<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.7 GeneDx<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.8 Centogene<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.9 PerkinElmer<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.10 Eurofins Scientific<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.11 BGI Genomics<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.12 Myriad Genetics<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.13 23andMe<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.14 Oxford Nanopore Technologies<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.15 Natera<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.16 Color Health<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.17 Blueprint Genetics<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.18 Baylor Genetics<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.19 ARUP Laboratories<\/p>\n<\/li>\n<li class=\"toc-level-3\">\n          6.3.20 BioReference Laboratories<\/p>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p class=\"toc-level-1 toc-content-heading\" id=\"toc-content-heading-6\">\n    7. \u5e02\u5834\u6a5f\u4f1a&amp;\u5c06\u6765\u5c55\u671b<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u30b3\u30b9\u30c8\u306e\u4f4e\u4e0b\u3001AI\u3092\u6d3b\u7528\u3057\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u89e3\u91c8\u30a8\u30f3\u30b8\u30f3\u306e\u9032\u5316\u3001\u511f\u9084\u7bc4\u56f2\u306e\u62e1\u5927\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\u306e\u6d3b\u767a\u306a\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u306b\u727d\u5f15\u3055\u308c\u3001\u8457\u3057\u3044\u6210\u9577\u3092\u9042\u3052\u3066\u3044\u307e\u3059\u3002\u672c\u30ec\u30dd\u30fc\u30c8\u3067\u306f\u30012025\u5e74\u304b\u30892030\u5e74\u307e\u3067\u306e\u5e02\u5834\u898f\u6a21\u3001\u30c8\u30ec\u30f3\u30c9\u3001\u4e3b\u8981\u306a\u63a8\u9032\u8981\u56e0\u3068\u963b\u5bb3\u8981\u56e0\u3001\u30bb\u30b0\u30e1\u30f3\u30c8\u5225\u304a\u3088\u3073\u5730\u57df\u5225\u306e\u5206\u6790\u3001\u7af6\u4e89\u74b0\u5883\u3001\u305d\u3057\u3066\u6700\u8fd1\u306e\u696d\u754c\u52d5\u5411\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u6982\u8aac\u3044\u305f\u3057\u307e\u3059\u3002<\/p>\n<p>\u5e02\u5834\u6982\u8981<\/p>\n<p>\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306f\u30012025\u5e74\u306b\u306f12.1\u5104\u7c73\u30c9\u30eb\u306b\u9054\u3057\u30012030\u5e74\u306b\u306f23.5\u5104\u7c73\u30c9\u30eb\u306b\u6210\u9577\u3059\u308b\u3068\u4e88\u6e2c\u3055\u308c\u3066\u304a\u308a\u3001\u4e88\u6e2c\u671f\u9593\u4e2d\u306e\u5e74\u5e73\u5747\u6210\u9577\u7387\uff08CAGR\uff09\u306f14.23%\u3068\u5805\u8abf\u306b\u63a8\u79fb\u3059\u308b\u898b\u8fbc\u307f\u3067\u3059\u3002NGS\u306e\u30b3\u30b9\u30c8\u7d99\u7d9a\u7684\u306a\u4f4e\u4e0b\u3001AI\u3092\u6d3b\u7528\u3057\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u89e3\u91c8\u30a8\u30f3\u30b8\u30f3\u306e\u767b\u5834\u3001\u304a\u3088\u3073\u511f\u9084\u7bc4\u56f2\u306e\u62e1\u5927\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u30cb\u30c3\u30c1\u306a\u7814\u7a76\u304b\u3089\u4e3b\u6d41\u306e\u81e8\u5e8a\u30b1\u30a2\u3078\u3068\u79fb\u884c\u3055\u305b\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u691c\u67fb\u6a5f\u95a2\u306f\u540c\u65e5\u4e2d\u306b\u30b2\u30ce\u30e0\u8a3a\u65ad\u3092\u63d0\u4f9b\u3057\u3066\u304a\u308a\u3001\u898f\u5236\u5f53\u5c40\u306f\u8907\u96d1\u306a\u30a2\u30c3\u30bb\u30a4\u3092\u5b9f\u9a13\u7684\u306a\u8ffd\u52a0\u6a5f\u80fd\u3067\u306f\u306a\u304f\u3001\u5fc5\u9808\u306e\u533b\u7642\u30a4\u30f3\u30d5\u30e9\u3068\u3057\u3066\u5206\u985e\u3059\u308b\u50be\u5411\u3092\u5f37\u3081\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5206\u5b50\u8a3a\u65ad\u3092\u5fc5\u8981\u3068\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\u306e\u6d3b\u767a\u306a\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3082\u9700\u8981\u3092\u62bc\u3057\u4e0a\u3052\u3066\u304a\u308a\u3001\u5e83\u7bc4\u306a\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u81e8\u5e8a\u7684\u4fa1\u5024\u63d0\u6848\u3092\u5f37\u5316\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u4e3b\u8981\u306a\u30ec\u30dd\u30fc\u30c8\u306e\u30dd\u30a4\u30f3\u30c8\u3068\u3057\u3066\u3001\u691c\u67fb\u30bf\u30a4\u30d7\u5225\u3067\u306f\u3001\u30db\u30fc\u30eb\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u304c2024\u5e74\u306b\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u30b7\u30a7\u30a2\u306e36.54%\u3092\u5360\u3081\u307e\u3057\u305f\u3002\u6280\u8853\u5225\u3067\u306f\u3001\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9NGS\u304c16.35%\u306eCAGR\u3067\u6210\u9577\u3057\u3066\u304a\u308a\u3001\u3059\u3067\u306b72.34%\u306e\u53ce\u76ca\u30b7\u30a7\u30a2\u3092\u6301\u3064\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3092\u4e0a\u56de\u3063\u3066\u3044\u307e\u3059\u3002\u691c\u4f53\u30bf\u30a4\u30d7\u5225\u3067\u306f\u3001\u8840\u6db2\u304c2024\u5e74\u306b\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u898f\u6a21\u306e58.46%\u3092\u7dad\u6301\u3057\u307e\u3057\u305f\u304c\u3001\u553e\u6db2\u304a\u3088\u3073\u53e3\u8154\u30b9\u30ef\u30d6\u306f\u5e74\u959314.89%\u3067\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002\u9069\u5fdc\u75c7\u5225\u3067\u306f\u3001\u795e\u7d4c\u75be\u60a3\u304c31.23%\u306e\u53ce\u76ca\u3092\u5360\u3081\u30012030\u5e74\u307e\u3067\u306b16.21%\u3067\u52a0\u901f\u3059\u308b\u3068\u4e88\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5730\u57df\u5225\u3067\u306f\u3001\u5317\u7c73\u304c2024\u5e74\u306b43.23%\u306e\u30b7\u30a7\u30a2\u3067\u5e02\u5834\u3092\u652f\u914d\u3057\u307e\u3057\u305f\u304c\u3001\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u306f2030\u5e74\u307e\u3067\u306b16.45%\u306eCAGR\u3067\u62e1\u5927\u3059\u308b\u3068\u4e88\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u30b0\u30ed\u30fc\u30d0\u30eb\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306e\u30c8\u30ec\u30f3\u30c9\u3068\u6d1e\u5bdf<\/p>\n<p>\u63a8\u9032\u8981\u56e0\u5206\u6790<br \/>\n*   \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u30b3\u30b9\u30c8\u4f4e\u4e0b\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a+3.2%\uff09\uff1a NGS\u8a66\u85ac\u304a\u3088\u3073\u6a5f\u5668\u306e\u30b3\u30b9\u30c8\u304c\u6025\u6fc0\u306b\u4f4e\u4e0b\u3057\u30012024\u5e74\u5f8c\u534a\u306b\u306f\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u304c1\u30b5\u30f3\u30d7\u30eb\u3042\u305f\u308a600\u7c73\u30c9\u30eb\u3092\u4e0b\u56de\u308a\u307e\u3057\u305f\u3002\u3053\u306e\u30b3\u30b9\u30c8\u30d1\u30ea\u30c6\u30a3\u306b\u3088\u308a\u3001\u75c5\u9662\u306f\u30b2\u30ce\u30e0\u512a\u5148\u30d7\u30ed\u30c8\u30b3\u30eb\u3092\u5c0e\u5165\u3057\u3001\u8a3a\u65ad\u307e\u3067\u306e\u671f\u9593\u3092\u77ed\u7e2e\u3059\u308b\u3088\u3046\u4fc3\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u304a\u3051\u308b\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u63a1\u7528\u304c\u52a0\u901f\u3057\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u4ecb\u5165\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u5e0c\u5c11\u75be\u60a3\u306e\u6709\u75c5\u7387\u306e\u5897\u52a0\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a+2.8%\uff09\uff1a\u4e16\u754c\u4fdd\u5065\u6a5f\u95a2\uff08WHO\uff09\u306b\u3088\u308b\u3068\u3001\u4e16\u754c\u4e2d\u30673\u5104\u4eba\u4ee5\u4e0a\u304c\u5e0c\u5c11\u75be\u60a3\u306b\u7f79\u60a3\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u306180%\u304c\u907a\u4f1d\u6027\u3067\u3059\u3002\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69\u3068\u610f\u8b58\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u7279\u5b9a\u3068\u8a3a\u65ad\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u653f\u5e9c\u306e\u53d6\u308a\u7d44\u307f\u3068\u8cc7\u91d1\u63d0\u4f9b\u306e\u5897\u52a0\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a+2.5%\uff09\uff1a\u591a\u304f\u306e\u56fd\u3067\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u7814\u7a76\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u3092\u652f\u63f4\u3059\u308b\u305f\u3081\u306e\u653f\u5e9c\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u3068\u8cc7\u91d1\u63d0\u4f9b\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u7c73\u56fd\u3067\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u6cd5\uff08Orphan Drug Act\uff09\u304c\u5e0c\u5c11\u75be\u60a3\u6cbb\u7642\u85ac\u306e\u958b\u767a\u3092\u5968\u52b1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u6291\u5236\u8981\u56e0\u5206\u6790<br \/>\n*   \u9ad8\u984d\u306a\u691c\u67fb\u8cbb\u7528\u3068\u511f\u9084\u306e\u8ab2\u984c\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a-2.0%\uff09\uff1a\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u3001\u7279\u306b\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u5834\u5408\u3001\u4f9d\u7136\u3068\u3057\u3066\u9ad8\u984d\u3067\u3059\u3002\u591a\u304f\u306e\u5730\u57df\u3067\u3001\u3053\u308c\u3089\u306e\u691c\u67fb\u306b\u5bfe\u3059\u308b\u4fdd\u967a\u511f\u9084\u306e\u7bc4\u56f2\u304c\u9650\u5b9a\u7684\u3067\u3042\u308b\u304b\u3001\u8907\u96d1\u306a\u627f\u8a8d\u30d7\u30ed\u30bb\u30b9\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u60a3\u8005\u306e\u30a2\u30af\u30bb\u30b9\u3092\u59a8\u3052\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u719f\u7df4\u3057\u305f\u5c02\u9580\u5bb6\u306e\u4e0d\u8db3\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a-1.5%\uff09\uff1a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u3001\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u5c02\u9580\u5bb6\u306a\u3069\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u89e3\u91c8\u3057\u3001\u60a3\u8005\u306b\u8aac\u660e\u3067\u304d\u308b\u719f\u7df4\u3057\u305f\u533b\u7642\u5c02\u9580\u5bb6\u306e\u4e0d\u8db3\u304c\u3001\u5e02\u5834\u306e\u6210\u9577\u3092\u5236\u9650\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u502b\u7406\u7684\u304a\u3088\u3073\u30d7\u30e9\u30a4\u30d0\u30b7\u30fc\u306b\u95a2\u3059\u308b\u61f8\u5ff5\uff08CAGR\u4e88\u6e2c\u3078\u306e\u5f71\u97ff\uff1a-1.0%\uff09\uff1a\u907a\u4f1d\u5b50\u60c5\u5831\u306e\u30d7\u30e9\u30a4\u30d0\u30b7\u30fc\u3001\u30c7\u30fc\u30bf\u30bb\u30ad\u30e5\u30ea\u30c6\u30a3\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u5dee\u5225\u306b\u95a2\u3059\u308b\u502b\u7406\u7684\u306a\u61f8\u5ff5\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u666e\u53ca\u306b\u5bfe\u3059\u308b\u969c\u58c1\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u304c\u96c7\u7528\u3084\u4fdd\u967a\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u306e\u61f8\u5ff5\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u6a5f\u4f1a\u5206\u6790<br \/>\n*   AI\u3068\u6a5f\u68b0\u5b66\u7fd2\u306e\u7d71\u5408\uff1a\u4eba\u5de5\u77e5\u80fd\uff08AI\uff09\u3068\u6a5f\u68b0\u5b66\u7fd2\uff08ML\uff09\u306f\u3001\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u3001\u5909\u7570\u306e\u7279\u5b9a\u3001\u8a3a\u65ad\u306e\u7cbe\u5ea6\u5411\u4e0a\u306b\u9769\u547d\u3092\u3082\u305f\u3089\u3059\u53ef\u80fd\u6027\u3092\u79d8\u3081\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8a3a\u65ad\u307e\u3067\u306e\u6642\u9593\u3092\u77ed\u7e2e\u3057\u3001\u3088\u308a\u30d1\u30fc\u30bd\u30ca\u30e9\u30a4\u30ba\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u3092\u4fc3\u9032\u3067\u304d\u307e\u3059\u3002<\/p>\n<p>*   \u65b0\u8208\u5e02\u5834\u3067\u306e\u6210\u9577\uff1a\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u3001\u30e9\u30c6\u30f3\u30a2\u30e1\u30ea\u30ab\u3001\u30a2\u30d5\u30ea\u30ab\u306a\u3069\u306e\u65b0\u8208\u5e02\u5834\u306f\u3001\u533b\u7642\u30a4\u30f3\u30d5\u30e9\u306e\u6539\u5584\u3001\u53ef\u51e6\u5206\u6240\u5f97\u306e\u5897\u52a0\u3001\u5e0c\u5c11\u75be\u60a3\u306b\u5bfe\u3059\u308b\u610f\u8b58\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u6210\u9577\u6a5f\u4f1a\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad\uff08NIPT\uff09\u306e\u62e1\u5927\uff1aNIPT\u306f\u3001\u80ce\u5150\u306e\u5e0c\u5c11\u75be\u60a3\u3092\u65e9\u671f\u306b\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u5b89\u5168\u3067\u975e\u4fb5\u8972\u7684\u306a\u65b9\u6cd5\u3068\u3057\u3066\u3001\u305d\u306e\u63a1\u7528\u304c\u62e1\u5927\u3057\u3066\u3044\u307e\u3059\u3002\u6280\u8853\u306e\u9032\u6b69\u3068\u30b3\u30b9\u30c8\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001NIPT\u306f\u4eca\u5f8c\u3082\u5e02\u5834\u6210\u9577\u306e\u91cd\u8981\u306a\u63a8\u9032\u529b\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n<p>\u8ab2\u984c\u5206\u6790<br \/>\n*   \u6a19\u6e96\u5316\u3068\u898f\u5236\u306e\u6b20\u5982\uff1a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u6a19\u6e96\u5316\u3055\u308c\u305f\u30d7\u30ed\u30c8\u30b3\u30eb\u3068\u898f\u5236\u306e\u67a0\u7d44\u307f\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u3053\u3068\u306f\u3001\u691c\u67fb\u7d50\u679c\u306e\u6bd4\u8f03\u53ef\u80fd\u6027\u3068\u4fe1\u983c\u6027\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u5e02\u5834\u306e\u6210\u9577\u3092\u59a8\u3052\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>*   \u30c7\u30fc\u30bf\u5171\u6709\u3068\u76f8\u4e92\u904b\u7528\u6027\uff1a\u7570\u306a\u308b\u533b\u7642\u6a5f\u95a2\u3084\u7814\u7a76\u6a5f\u95a2\u9593\u3067\u306e\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u306e\u5171\u6709\u3068\u76f8\u4e92\u904b\u7528\u6027\u306e\u6b20\u5982\u306f\u3001\u5927\u898f\u6a21\u306a\u7814\u7a76\u3084\u8a3a\u65ad\u306e\u9032\u6b69\u3092\u5236\u9650\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u507d\u967d\u6027\/\u507d\u9670\u6027\u306e\u7d50\u679c\uff1a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u507d\u967d\u6027\u307e\u305f\u306f\u507d\u9670\u6027\u306e\u7d50\u679c\u306f\u3001\u60a3\u8005\u306b\u4e0d\u5fc5\u8981\u306a\u4e0d\u5b89\u3092\u4e0e\u3048\u305f\u308a\u3001\u8aa4\u3063\u305f\u6cbb\u7642\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u691c\u67fb\u306e\u4fe1\u983c\u6027\u306b\u5bfe\u3059\u308b\u61f8\u5ff5\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n<p>\u30bb\u30b0\u30e1\u30f3\u30c6\u30fc\u30b7\u30e7\u30f3\u5206\u6790<\/p>\n<p>\u6280\u8853\u5225<br \/>\n*   \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\uff1aNGS\u306f\u3001\u305d\u306e\u9ad8\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u3001\u30b3\u30b9\u30c8\u52b9\u7387\u3001\u304a\u3088\u3073\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u89e3\u6790\u80fd\u529b\u306b\u3088\u308a\u3001\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u3067\u6700\u3082\u652f\u914d\u7684\u306a\u6280\u8853\u3067\u3059\u3002\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9NGS\u306f\u73fe\u5728\u6700\u5927\u306e\u53ce\u76ca\u30b7\u30a7\u30a2\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u304c\u3001\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9NGS\u306f\u8907\u96d1\u306a\u69cb\u9020\u5909\u7570\u306e\u691c\u51fa\u80fd\u529b\u306b\u3088\u308a\u6025\u901f\u306b\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff1a\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3084\u30b3\u30d4\u30fc\u6570\u5909\u7570\u306e\u691c\u51fa\u306b\u5229\u7528\u3055\u308c\u307e\u3059\u304c\u3001NGS\u3068\u6bd4\u8f03\u3057\u3066\u5305\u62ec\u7684\u306a\u89e3\u6790\u80fd\u529b\u306b\u52a3\u308a\u307e\u3059\u3002<\/p>\n<p>*   \u30dd\u30ea\u30e1\u30e9\u30fc\u30bc\u9023\u9396\u53cd\u5fdc\uff08PCR\uff09\uff1aPCR\u30d9\u30fc\u30b9\u306e\u691c\u67fb\u306f\u3001\u7279\u5b9a\u306e\u65e2\u77e5\u306e\u5909\u7570\u306e\u8fc5\u901f\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u304c\u3001\u672a\u77e5\u306e\u5909\u7570\u306e\u691c\u51fa\u306b\u306f\u9069\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n<p>*   \u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\uff1aFISH\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u306e\u691c\u51fa\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u304c\u3001\u9650\u3089\u308c\u305f\u6570\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u3057\u304b\u540c\u6642\u306b\u89e3\u6790\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n<p>\u691c\u4f53\u30bf\u30a4\u30d7\u5225<br \/>\n*   \u8840\u6db2\uff1a\u8840\u6db2\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u691c\u4f53\u30bf\u30a4\u30d7\u3067\u3042\u308a\u3001DNA\u306e\u62bd\u51fa\u304c\u6bd4\u8f03\u7684\u5bb9\u6613\u3067\u3042\u308b\u305f\u3081\u3001\u5e02\u5834\u3067\u6700\u5927\u306e\u30b7\u30a7\u30a2\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u553e\u6db2\u304a\u3088\u3073\u53e3\u8154\u30b9\u30ef\u30d6\uff1a\u553e\u6db2\u304a\u3088\u3073\u53e3\u8154\u30b9\u30ef\u30d6\u306f\u3001\u975e\u4fb5\u8972\u7684\u3067\u81ea\u5df1\u63a1\u53d6\u304c\u53ef\u80fd\u3067\u3042\u308b\u305f\u3081\u3001\u7279\u306b\u5c0f\u5150\u3084\u81ea\u5b85\u3067\u306e\u691c\u67fb\u306b\u304a\u3044\u3066\u4eba\u6c17\u304c\u9ad8\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u7f8a\u6c34\uff1a\u7f8a\u6c34\u306f\u3001\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u304a\u3044\u3066\u80ce\u5150\u306e\u907a\u4f1d\u5b50\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/p>\n<p>*   \u7d68\u6bdb\u819c\u7d68\u6bdb\uff1a\u7d68\u6bdb\u819c\u7d68\u6bdb\u306f\u3001\u7f8a\u6c34\u3068\u540c\u69d8\u306b\u3001\u51fa\u751f\u524d\u8a3a\u65ad\u3067\u80ce\u5150\u306e\u907a\u4f1d\u5b50\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u304c\u3001\u3088\u308a\u65e9\u671f\u306b\u63a1\u53d6\u53ef\u80fd\u3067\u3059\u3002<\/p>\n<p>\u9069\u5fdc\u75c7\u5225<br \/>\n*   \u795e\u7d4c\u75be\u60a3\uff1a\u795e\u7d4c\u75be\u60a3\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u3067\u6700\u5927\u306e\u9069\u5fdc\u75c7\u30bb\u30b0\u30e1\u30f3\u30c8\u3092\u5360\u3081\u3066\u304a\u308a\u3001\u30cf\u30f3\u30c1\u30f3\u30c8\u30f3\u75c5\u3001\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff08ALS\uff09\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\uff08SMA\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n<p>*   \u4ee3\u8b1d\u6027\u75be\u60a3\uff1a\u4ee3\u8b1d\u6027\u75be\u60a3\u306b\u306f\u3001\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PKU\uff09\u3084\u30b4\u30fc\u30b7\u30a7\u75c5\u306a\u3069\u304c\u542b\u307e\u308c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n<p>*   \u304c\u3093\uff1a\u907a\u4f1d\u6027\u306e\u304c\u3093\u75c7\u5019\u7fa4\uff08\u4f8b\uff1aBRCA\u5909\u7570\u306b\u3088\u308b\u907a\u4f1d\u6027\u4e73\u304c\u3093\u30fb\u5375\u5de3\u304c\u3093\u75c7\u5019\u7fa4\uff09\u306e\u8a3a\u65ad\u306b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n<p>*   \u5fc3\u81d3\u75c5\uff1a\u907a\u4f1d\u6027\u5fc3\u7b4b\u75c7\u3084\u4e0d\u6574\u8108\u75c7\u5019\u7fa4\u306a\u3069\u306e\u5fc3\u81d3\u75c5\u306e\u8a3a\u65ad\u306b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5229\u7528\u3055\u308c\u307e\u3059\u3002<\/p>\n<p>*   \u305d\u306e\u4ed6\uff1a\u305d\u306e\u4ed6\u306e\u9069\u5fdc\u75c7\u306b\u306f\u3001\u514d\u75ab\u4e0d\u5168\u75c7\u3001\u9aa8\u683c\u75be\u60a3\u3001\u814e\u81d3\u75c5\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n<p>\u5730\u57df\u5225\u5206\u6790<br \/>\n*   \u5317\u7c73\uff1a\u5317\u7c73\u306f\u3001\u5148\u9032\u7684\u306a\u533b\u7642\u30a4\u30f3\u30d5\u30e9\u3001\u9ad8\u3044\u533b\u7642\u8cbb\u652f\u51fa\u3001\u4e3b\u8981\u306a\u5e02\u5834\u30d7\u30ec\u30a4\u30e4\u30fc\u306e\u5b58\u5728\u3001\u304a\u3088\u3073\u5e0c\u5c11\u75be\u60a3\u306b\u5bfe\u3059\u308b\u653f\u5e9c\u306e\u5f37\u529b\u306a\u652f\u63f4\u306b\u3088\u308a\u3001\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u3092\u652f\u914d\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u30e8\u30fc\u30ed\u30c3\u30d1\uff1a\u30e8\u30fc\u30ed\u30c3\u30d1\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u306b\u95a2\u3059\u308b\u610f\u8b58\u306e\u5411\u4e0a\u3001\u653f\u5e9c\u306e\u8cc7\u91d1\u63d0\u4f9b\u3001\u304a\u3088\u3073\u7814\u7a76\u958b\u767a\u6d3b\u52d5\u306e\u6d3b\u767a\u5316\u306b\u3088\u308a\u3001\u5e02\u5834\u3067\u91cd\u8981\u306a\u30b7\u30a7\u30a2\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\uff1a\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u306f\u3001\u533b\u7642\u30a4\u30f3\u30d5\u30e9\u306e\u6539\u5584\u3001\u53ef\u51e6\u5206\u6240\u5f97\u306e\u5897\u52a0\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u6280\u8853\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306e\u62e1\u5927\u306b\u3088\u308a\u3001\u6700\u3082\u6025\u901f\u306b\u6210\u9577\u3057\u3066\u3044\u308b\u5e02\u5834\u3067\u3059\u3002\u7279\u306b\u4e2d\u56fd\u3068\u30a4\u30f3\u30c9\u304c\u3053\u306e\u6210\u9577\u3092\u727d\u5f15\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u30e9\u30c6\u30f3\u30a2\u30e1\u30ea\u30ab\uff1a\u30e9\u30c6\u30f3\u30a2\u30e1\u30ea\u30ab\u306f\u3001\u533b\u7642\u30a2\u30af\u30bb\u30b9\u306e\u6539\u5584\u3068\u5e0c\u5c11\u75be\u60a3\u306b\u5bfe\u3059\u308b\u610f\u8b58\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>*   \u4e2d\u6771\u304a\u3088\u3073\u30a2\u30d5\u30ea\u30ab\uff1a\u4e2d\u6771\u304a\u3088\u3073\u30a2\u30d5\u30ea\u30ab\u306f\u3001\u533b\u7642\u30a4\u30f3\u30d5\u30e9\u306e\u767a\u5c55\u3068\u653f\u5e9c\u306e\u53d6\u308a\u7d44\u307f\u306b\u3088\u308a\u3001\u5e02\u5834\u306e\u6210\u9577\u304c\u898b\u8fbc\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4ed6\u306e\u5730\u57df\u3068\u6bd4\u8f03\u3057\u3066\u307e\u3060\u521d\u671f\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u7af6\u4e89\u74b0\u5883<\/p>\n<p>\u30b0\u30ed\u30fc\u30d0\u30eb\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306f\u3001\u78ba\u7acb\u3055\u308c\u305f\u5927\u624b\u4f01\u696d\u3068\u65b0\u8208\u306e\u30d0\u30a4\u30aa\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u4f01\u696d\u304c\u6df7\u5728\u3059\u308b\u7af6\u4e89\u306e\u6fc0\u3057\u3044\u5e02\u5834\u3067\u3059\u3002\u4e3b\u8981\u306a\u5e02\u5834\u30d7\u30ec\u30a4\u30e4\u30fc\u306f\u3001\u88fd\u54c1\u30dd\u30fc\u30c8\u30d5\u30a9\u30ea\u30aa\u306e\u62e1\u5927\u3001\u6226\u7565\u7684\u63d0\u643a\u3001\u5408\u4f75\u30fb\u8cb7\u53ce\u3001\u304a\u3088\u3073\u7814\u7a76\u958b\u767a\u3078\u306e\u6295\u8cc7\u3092\u901a\u3058\u3066\u5e02\u5834\u3067\u306e\u5730\u4f4d\u3092\u5f37\u5316\u3057\u3088\u3046\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u4e3b\u8981\u306a\u5e02\u5834\u30d7\u30ec\u30a4\u30e4\u30fc\u306b\u306f\u4ee5\u4e0b\u304c\u542b\u307e\u308c\u307e\u3059\u3002<br \/>\n*   Illumina, Inc.<br \/>\n*   Thermo Fisher Scientific Inc.<br \/>\n*   Quest Diagnostics Incorporated<br \/>\n*   Laboratory Corporation of America Holdings (LabCorp)<br \/>\n*   Invitae Corporation<br \/>\n*   Centogene N.V.<br \/>\n*   Eurofins Scientific SE<br \/>\n*   PerkinElmer Inc.<br \/>\n*   Agilent Technologies, Inc.<br \/>\n*   F. Hoffmann-La Roche Ltd.<br \/>\n*   BGI Genomics Co., Ltd.<br \/>\n*   Macrogen Inc.<br \/>\n*   Fulgent Genetics, Inc.<br \/>\n*   Natera, Inc.<br \/>\n*   Veritas Genetics<\/p>\n<p>\u3053\u308c\u3089\u306e\u4f01\u696d\u306f\u3001NGS\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3001\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30b5\u30fc\u30d3\u30b9\u306a\u3069\u3001\u5e45\u5e83\u3044\u88fd\u54c1\u3068\u30b5\u30fc\u30d3\u30b9\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u8a3a\u65ad\u7cbe\u5ea6\u3092\u5411\u4e0a\u3055\u305b\u3001\u8a3a\u65ad\u307e\u3067\u306e\u6642\u9593\u3092\u77ed\u7e2e\u3059\u308b\u305f\u3081\u306e\u65b0\u3057\u3044\u6280\u8853\u3084\u30bd\u30ea\u30e5\u30fc\u30b7\u30e7\u30f3\u306e\u958b\u767a\u306b\u3082\u6ce8\u529b\u3057\u3066\u3044\u307e\u3059\u3002\u5e02\u5834\u306e\u7af6\u4e89\u306f\u3001\u6280\u8853\u9769\u65b0\u3001\u4fa1\u683c\u8a2d\u5b9a\u3001\u30b5\u30fc\u30d3\u30b9\u54c1\u8cea\u3001\u304a\u3088\u3073\u898f\u5236\u627f\u8a8d\u306b\u3088\u3063\u3066\u3055\u3089\u306b\u6fc0\u5316\u3059\u308b\u3068\u4e88\u60f3\u3055\u308c\u307e\u3059\u3002<\/p>\n<p>\u3053\u306e\u30ec\u30dd\u30fc\u30c8\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u5206\u6790\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u5e0c\u5c11\u75be\u60a3\u306f\u907a\u4f1d\u6027\u75be\u60a3\u3068\u5b9a\u7fa9\u3055\u308c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u6570\u9031\u9593\u4ee5\u5185\u306b\u7d50\u679c\u3092\u63d0\u4f9b\u3059\u308b\u9ad8\u5ea6\u306a\u8a3a\u65ad\u30c4\u30fc\u30eb\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u5e02\u5834\u6982\u8981\u3068\u6210\u9577\u4e88\u6e2c<br \/>\n\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u691c\u67fb\u5e02\u5834\u306f\u3001\u4e88\u6e2c\u671f\u9593\u4e2d\u306b\u5e74\u5e73\u5747\u6210\u9577\u7387\uff08CAGR\uff0910%\u3067\u6210\u9577\u3059\u308b\u3068\u4e88\u60f3\u3055\u308c\u3066\u3044\u307e\u3059\u30022025\u5e74\u306b\u306f\u5317\u7c73\u304c\u6700\u5927\u306e\u5e02\u5834\u30b7\u30a7\u30a2\u3092\u5360\u3081\u308b\u3068\u898b\u8fbc\u307e\u308c\u3066\u304a\u308a\u3001\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u304c\u653f\u5e9c\u4e3b\u5c0e\u306e\u767b\u9332\u5236\u5ea6\u3001\u88dc\u52a9\u91d1\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u56fd\u5185\u8a66\u85ac\u751f\u7523\u306b\u3088\u308b\u691c\u67fb\u30b3\u30b9\u30c8\u306e\u4f4e\u6e1b\u3068\u30a2\u30af\u30bb\u30b9\u62e1\u5927\u306b\u3088\u308a\u3001\u6700\u3082\u6025\u901f\u306a\u6210\u9577\u3092\u9042\u3052\u308b\u5730\u57df\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n<p>\u5e02\u5834\u306e\u63a8\u9032\u8981\u56e0<br \/>\n\u5e02\u5834\u306e\u6210\u9577\u3092\u727d\u5f15\u3059\u308b\u4e3b\u306a\u8981\u56e0\u3068\u3057\u3066\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306e\u30b3\u30b9\u30c8\u4f4e\u4e0b\u3001\u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306b\u5bfe\u3059\u308b\u56fd\u6c11\u7684\u511f\u9084\u7bc4\u56f2\u306e\u62e1\u5927\u3001AI\u3092\u6d3b\u7528\u3057\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u89e3\u91c8\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u306e\u9032\u5316\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5e0c\u5c11\u75be\u60a3\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u901a\u3058\u305f\u30d0\u30a4\u30aa\u533b\u85ac\u54c1\u306e\u6cbb\u9a13\u52df\u96c6\u306e\u4fc3\u9032\u3001\u65b0\u751f\u5150\u30b2\u30ce\u30e0\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30d1\u30a4\u30ed\u30c3\u30c8\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u5c0e\u5165\u3001\u65b0\u8208\u5e02\u5834\u306b\u304a\u3051\u308b\u30dd\u30fc\u30bf\u30d6\u30eb\u9577\u9396\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306e\u666e\u53ca\u3082\u91cd\u8981\u306a\u63a8\u9032\u529b\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u5e02\u5834\u306e\u963b\u5bb3\u8981\u56e0<br \/>\n\u4e00\u65b9\u3067\u3001\u5e02\u5834\u306e\u6210\u9577\u3092\u59a8\u3052\u308b\u8981\u56e0\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u9ad8\u984d\u306a\u81ea\u5df1\u8ca0\u62c5\u8cbb\u7528\u3068\u9650\u3089\u308c\u305f\u4fdd\u967a\u9069\u7528\u7bc4\u56f2\u3001\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306e\u4e0d\u8db3\u3001\u30b2\u30ce\u30e0\u30d7\u30e9\u30a4\u30d0\u30b7\u30fc\u898f\u5236\u306e\u65ad\u7247\u5316\u304c\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u975e\u30b3\u30fc\u30c9\u9818\u57df\u3084\u8d85\u5e0c\u5c11\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u5bfe\u3059\u308b\u8a3a\u65ad\u53ce\u7387\u306e\u4f4e\u3055\u3082\u3001\u5e02\u5834\u306e\u5236\u7d04\u8981\u56e0\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n<p>\u5e02\u5834\u306e\u30bb\u30b0\u30e1\u30f3\u30c6\u30fc\u30b7\u30e7\u30f3<br \/>\n\u672c\u30ec\u30dd\u30fc\u30c8\u3067\u306f\u3001\u5e02\u5834\u3092\u4ee5\u4e0b\u306e\u4e3b\u8981\u306a\u30bb\u30b0\u30e1\u30f3\u30c8\u306b\u5206\u3051\u3066\u5206\u6790\u3057\u3066\u3044\u307e\u3059\u3002<br \/>\n*   \u691c\u67fb\u30bf\u30a4\u30d7\u5225: \u5358\u4e00\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WES\uff09\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WGS\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<br \/>\n*   \u6280\u8853\u5225: \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3001\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3001PCR\u30d9\u30fc\u30b9\u306e\u691c\u67fb\u3001\u30a2\u30ec\u30a4\u6280\u8853\u3001FISH\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u3001\u7279\u306b\u9577\u9396\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u69cb\u9020\u5909\u7570\u306e\u691c\u51fa\u80fd\u529b\u3068\u643a\u5e2f\u6027\u306b\u3088\u308a\u30b7\u30a7\u30a2\u3092\u62e1\u5927\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u77ed\u9396\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3082\u7cbe\u5ea6\u5411\u4e0a\u306b\u3088\u308a\u5f15\u304d\u7d9a\u304d\u91cd\u8981\u306a\u6280\u8853\u3068\u3057\u3066\u7dad\u6301\u3055\u308c\u308b\u3068\u4e88\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br \/>\n*   \u30b5\u30f3\u30d7\u30eb\u30bf\u30a4\u30d7\u5225: \u8840\u6db2\u3001\u553e\u6db2\/\u53e3\u8154\u30b9\u30ef\u30d6\u3001\u7f8a\u6c34\/\u7d68\u6bdb\uff08\u51fa\u751f\u524d\uff09\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<br \/>\n*   \u9069\u5fdc\u75c7\u5225: \u795e\u7d4c\u75be\u60a3\u3001\u514d\u75ab\u75be\u60a3\u3001\u8840\u6db2\u75be\u60a3\u3001\u5185\u5206\u6ccc\u30fb\u4ee3\u8b1d\u75be\u60a3\u3001\u304c\u3093\u3001\u7b4b\u9aa8\u683c\u75be\u60a3\u306a\u3069\u304c\u5bfe\u8c61\u3067\u3059\u3002<br \/>\n*   \u30a8\u30f3\u30c9\u30e6\u30fc\u30b6\u30fc\u5225: \u30af\u30ea\u30cb\u30c3\u30af\/\u75c5\u9662\u3001\u8a3a\u65ad\u30e9\u30dc\u3001\u305d\u306e\u4ed6\u306e\u30a8\u30f3\u30c9\u30e6\u30fc\u30b6\u30fc\u304c\u542b\u307e\u308c\u307e\u3059\u3002<br \/>\n*   \u5730\u57df\u5225: 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