{"id":3799,"date":"2023-08-04T17:59:22","date_gmt":"2023-08-04T17:59:22","guid":{"rendered":"https:\/\/dailyai.com\/?p=3799"},"modified":"2023-08-04T18:05:23","modified_gmt":"2023-08-04T18:05:23","slug":"ai-powered-blood-test-detects-cancers-in-single-dna-molecules","status":"publish","type":"post","link":"https:\/\/dailyai.com\/sv\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/","title":{"rendered":"AI-drivet blodprov uppt\u00e4cker cancer i enstaka DNA-molekyler"},"content":{"rendered":"<p><b>Forskare vid Johns Hopkins Kimmel Cancer Center utvecklar en ny blodprovsteknik som kallas GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer).\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Genom att kombinera genomomfattande sekvensering av enskilda DNA-molekyler som tum\u00f6rer g\u00f6r sig av med maskininl\u00e4rning (ML) kan testet m\u00f6jligg\u00f6ra tidigare uppt\u00e4ckt av lungcancer och andra cancerformer.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">GEMINI-testet analyserar fragment av cellfritt DNA (cfDNA) som uts\u00f6ndras av tum\u00f6rer och anv\u00e4nder ML f\u00f6r att uppt\u00e4cka skillnader i mutationsfrekvenser f\u00f6r cancer och icke-cancer i hela genomet. H\u00f6gre po\u00e4ng som genereras av modellen tyder p\u00e5 en h\u00f6gre sannolikhet f\u00f6r att ha cancer.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">I laboratorietester anv\u00e4ndes GEMINI p\u00e5 datortomografibilder och uppt\u00e4ckte \u00f6ver 90% lungcancer, \u00e4ven i tidiga stadier. Den <\/span><a href=\"https:\/\/www.nature.com\/articles\/s41588-023-01446-3#citea\"><span style=\"font-weight: 400;\">studie<\/span><\/a><span style=\"font-weight: 400;\"> resultaten publicerades i Nature Genetics.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Forskarna fokuserade fr\u00e4mst p\u00e5 att uppt\u00e4cka lungcancer hos h\u00f6griskpopulationer. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">F\u00f6r\u00e4ndrade mutationsprofiler observerades dock \u00e4ven i cfDNA fr\u00e5n patienter med levercancer, melanom och lymfom, s\u00e5 denna metod skulle kunna anv\u00e4ndas f\u00f6r olika typer av cancer.\u00a0<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Hur forskarna skapade GEMINI<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">F\u00f6r att utveckla GEMINI studerade teamet genomsekvenser fr\u00e5n 2.511 individer med 25 olika cancerformer.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Olika tum\u00f6rtyper hade olika mutationsprofiler. Forskarna fann att genomiska regioner med h\u00f6g mutationsfrekvens var likartade mellan tum\u00f6rv\u00e4vnad och blodderiverat cfDNA hos patienter med lungcancer, melanom eller B-cells non-Hodgkin lymfom.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">GEMINI-testet till\u00e4mpades sedan p\u00e5 cfDNA fr\u00e5n 365 personer med h\u00f6g risk f\u00f6r lungcancer, vilket gav h\u00f6gre po\u00e4ng hos personer med cancer \u00e4n hos dem utan.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Forskarna unders\u00f6kte ocks\u00e5 integreringen av GEMINI med ett tidigare test som kallas DELFI (DNA evaluation of fragments for early interception),<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Totalt identifierade GEMINI och DELFI cancersjukdomar korrekt 91% av g\u00e5ngerna i 89 prover.<\/span><\/p>\n<figure id=\"attachment_3800\" aria-describedby=\"caption-attachment-3800\" style=\"width: 1024px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-3800 size-large\" src=\"https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-1024x187.png\" alt=\"ML cancer\" width=\"1024\" height=\"187\" srcset=\"https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-1024x187.png 1024w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-300x55.png 300w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-768x141.png 768w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-1536x281.png 1536w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-370x68.png 370w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-800x146.png 800w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-740x135.png 740w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-20x4.png 20w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-1600x293.png 1600w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature-262x48.png 262w, https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/Nature.png 1918w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption id=\"caption-attachment-3800\" class=\"wp-caption-text\">Maskininl\u00e4rning hj\u00e4lpte forskare att analysera cancermark\u00f6rer i celler. K\u00e4llor: <a href=\"https:\/\/www.nature.com\/articles\/s41588-023-01446-3#citeas\">Natur<\/a>.<\/figcaption><\/figure>\n<p><span style=\"font-weight: 400;\">Anm\u00e4rkningsv\u00e4rt \u00e4r att GEMINI-testet uppt\u00e4ckte avvikelser i cfDNA-mutationsprofiler flera \u00e5r f\u00f6re standarddiagnoser hos sju patienter som inte hade n\u00e5gra p\u00e5visbara tum\u00f6rer vid blodprovstagningen.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sex personer testade positivt med GEMINI och fick senare diagnosen lungcancer mellan 231 och 1.868 dagar efter att proverna togs.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">F\u00f6rdelning av studien<\/span><\/h2>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Blodprovstagning<\/b><span style=\"font-weight: 400;\">: Ett blodprov tas fr\u00e5n en person som kan vara i riskzonen f\u00f6r att utveckla cancer. Detta prov inneh\u00e5ller cfDNA, sm\u00e5 fragment av DNA som har uts\u00f6ndrats av celler i kroppen, inklusive eventuella tum\u00f6rceller.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>DNA-extraktion och sekvensering<\/b><span style=\"font-weight: 400;\">: cfDNA extraheras fr\u00e5n blodprovet och sekvensbest\u00e4ms sedan. Det inneb\u00e4r att forskarna kartl\u00e4gger ordningen p\u00e5 de \"byggstenar\" som DNA best\u00e5r av. Detta hj\u00e4lper dem att identifiera eventuella f\u00f6r\u00e4ndringar eller mutationer i DNA:t.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Analys av DNA-f\u00f6r\u00e4ndringar<\/b><span style=\"font-weight: 400;\">: Varje enskild DNA-molekyl analyseras med avseende p\u00e5 eventuella sekvensf\u00f6r\u00e4ndringar, vilket g\u00f6r det m\u00f6jligt f\u00f6r forskarna att kartl\u00e4gga mutationsprofiler \u00f6ver hela genomet. I sj\u00e4lva verket letar de efter m\u00f6nster i mutationerna som kan tyda p\u00e5 f\u00f6rekomst av cancer.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Maskininl\u00e4rning<\/b><span style=\"font-weight: 400;\">: En maskininl\u00e4rningsmodell, som har tr\u00e4nats f\u00f6r att k\u00e4nna igen skillnaden mellan cancerframkallande och icke-cancerframkallande mutationsfrekvenser i olika delar av genomet, anv\u00e4nds sedan f\u00f6r att analysera mutationsprofilerna. Maskininl\u00e4rningsmodellen ger sedan en po\u00e4ng som str\u00e4cker sig fr\u00e5n 0 till 1, d\u00e4r en h\u00f6gre po\u00e4ng indikerar en h\u00f6gre sannolikhet f\u00f6r cancer.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Ytterligare validering och testning<\/b><span style=\"font-weight: 400;\">: Om GEMINI-po\u00e4ngen \u00e4r h\u00f6g, vilket tyder p\u00e5 cancer, anv\u00e4nds ytterligare tester som datortomografi och DELFI-testet (som uppt\u00e4cker f\u00f6r\u00e4ndringar i storleken och f\u00f6rdelningen av cfDNA-fragment \u00f6ver hela genomet) f\u00f6r att bekr\u00e4fta diagnosen och uppt\u00e4cka cancerstadiet. Denna kombination av tester har visat sig vara mycket effektiv och \u00f6ver 90% av lungcancerfallen i studien har uppt\u00e4ckts.<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">Det h\u00e4r \u00e4r ytterligare en sp\u00e4nnande studie som visar p\u00e5 en ny till\u00e4mpning av maskininl\u00e4rning inom medicinsk diagnostik, den h\u00e4r g\u00e5ngen f\u00f6r att analysera cancer p\u00e5 cellniv\u00e5. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">St\u00f6rre kliniska pr\u00f6vningar kr\u00e4vs f\u00f6r att validera verktyget innan det kan bli tillg\u00e4ngligt f\u00f6r klinisk anv\u00e4ndning.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Den h\u00e4r veckan har en <a href=\"https:\/\/dailyai.com\/sv\/2023\/08\/ai-shows-promise-in-breast-cancer-screening-study-reveals\/\">AI-st\u00f6dd screening av br\u00f6stcancer<\/a> arbetsfl\u00f6de avsev\u00e4rt f\u00f6rb\u00e4ttrat hastigheten och effektiviteten i bed\u00f6mningen av mammogram f\u00f6r cancer.\u00a0<\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>Forskare vid Johns Hopkins Kimmel Cancer Center utvecklar en ny blodprovsteknik som kallas GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer).  Genom att kombinera genomomfattande sekvensering av enskilda DNA-molekyler fr\u00e5n tum\u00f6rer med maskininl\u00e4rning (ML) kan testet m\u00f6jligg\u00f6ra tidigare uppt\u00e4ckt av lungcancer och andra cancerformer. GEMINI-testet analyserar fragment av cellfritt DNA (cfDNA) fr\u00e5n tum\u00f6rer och anv\u00e4nder ML f\u00f6r att uppt\u00e4cka skillnader i mutationsfrekvenser f\u00f6r cancer och icke-cancer i hela genomet. H\u00f6gre po\u00e4ng som genereras av modellen tyder p\u00e5 en h\u00f6gre sannolikhet f\u00f6r att ha cancer. I laboratorietester till\u00e4mpades GEMINI p\u00e5 datortomografibilder<\/p>","protected":false},"author":2,"featured_media":3801,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[84],"tags":[203,274,105,101],"class_list":["post-3799","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-industry","tag-biotech","tag-cancer","tag-machine-learning","tag-medtech"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>AI-powered blood test detects cancers in single DNA molecules | DailyAI<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dailyai.com\/sv\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/\" \/>\n<meta property=\"og:locale\" content=\"sv_SE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"AI-powered blood test detects cancers in single DNA molecules | DailyAI\" \/>\n<meta property=\"og:description\" content=\"Researchers at the Johns Hopkins Kimmel Cancer Center are advancing a novel blood testing technology known as GEMINI (Genome-wide Mutational Incidence for Non-Invasive detection of cancer).\u00a0 By merging genome-wide sequencing of single DNA molecules discarded by tumors with machine learning (ML), the test may enable earlier detection of lung and other cancers. The GEMINI test analyzes cell-free DNA (cfDNA) fragments shed by tumors, using ML to detect differences in cancer and non-cancer mutation frequencies across the genome. Higher scores generated by the model suggest a higher probability of having cancer. In lab tests, GEMINI was applied to computerized tomography images\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dailyai.com\/sv\/2023\/08\/ai-powered-blood-test-detects-cancers-in-single-dna-molecules\/\" \/>\n<meta property=\"og:site_name\" content=\"DailyAI\" \/>\n<meta property=\"article:published_time\" content=\"2023-08-04T17:59:22+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-08-04T18:05:23+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dailyai.com\/wp-content\/uploads\/2023\/08\/shutterstock_1176407548.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1000\" \/>\n\t<meta property=\"og:image:height\" content=\"563\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Sam Jeans\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@DailyAIOfficial\" \/>\n<meta name=\"twitter:site\" content=\"@DailyAIOfficial\" \/>\n<meta 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