{"id":148,"date":"2025-10-03T15:49:29","date_gmt":"2025-10-03T15:49:29","guid":{"rendered":"https:\/\/drmariogenero.xyz\/?p=148"},"modified":"2025-10-03T15:56:10","modified_gmt":"2025-10-03T15:56:10","slug":"genomic-testing-in-asymptomatic-individuals-a-key-tool-for-hereditary-cancer-prevention","status":"publish","type":"post","link":"https:\/\/drmariogenero.xyz\/?p=148","title":{"rendered":"Genomic Testing in Asymptomatic Individuals\u2014A Key Tool for Hereditary Cancer Prevention"},"content":{"rendered":"\n<p>Dr. Mario Hugo Genero, MD &#8211; &gt;&gt;&gt;Cofounder-CEO aiGEN &#8211; Kendall Square &#8211; Cambridge &#8211; USA<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"2060\" height=\"1614\" src=\"https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM.png\" alt=\"\" class=\"wp-image-150\" srcset=\"https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM.png 2060w, https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM-300x235.png 300w, https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM-1024x802.png 1024w, https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM-768x602.png 768w, https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM-1536x1203.png 1536w, https:\/\/drmariogenero.xyz\/wp-content\/uploads\/2025\/10\/Screenshot-2025-08-22-at-12.18.22-PM-2048x1605.png 2048w\" sizes=\"auto, (max-width: 2060px) 100vw, 2060px\" \/><\/figure>\n\n\n\n<p><strong>Why is genomics essential for hereditary cancer prevention?<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Genomics: Proactive Steps Against Hereditary Cancer<\/li>\n\n\n\n<li>Detecting Cancer Risk Before Symptoms Start<\/li>\n\n\n\n<li>Family Health Matters: The Power of Preventive Genomics<\/li>\n\n\n\n<li>Safeguard Your Future With Genetic Insights<\/li>\n\n\n\n<li>Hereditary Cancer: Early Detection, Better Outcomes<\/li>\n<\/ul>\n\n\n\n<p>While most cancers arise due to a combination of environmental, lifestyle, and genetic factors, about 5% to 10% are attributable to inherited genetic variants passed down through generations that significantly increase the risk of certain cancer types.<\/p>\n\n\n\n<p><strong>Preventive genomic screening<\/strong>, even in asymptomatic individuals, allows for the early detection of these pathogenic variants. Knowing one&#8217;s genetic predisposition not only enables more effective surveillance for the individual but also provides valuable information for their family members.<a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2831645\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Main Benefits of Genomic Screening for Healthy Individuals<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Early identification of risk: Detecting pathogenic variants in cancer-related genes (such as BRCA1, BRCA2, MLH1, or APC) helps identify high-risk individuals before disease appears.<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12190242\/\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Personalized prevention strategies: Individuals aware of their genetic risk can access enhanced surveillance, start screening earlier, and discuss preventive options with their healthcare team.<a href=\"https:\/\/www.nature.com\/articles\/s43856-025-00883-x\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Impact on the whole family: Discovery in one family member guides preventive screening for biological relatives, contributing to a reduced burden of cancer across the family.<a href=\"https:\/\/ascopubs.org\/doi\/10.1200\/GO-24-00433\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Informed medical decision-making: Genomic results combine with clinical and family history for more efficient and safer follow-up strategies.<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1048891X24009186\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">When to Consider Genomic Testing?<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>When multiple family members across generations have had cancer.<\/li>\n\n\n\n<li>When certain cancers (breast, ovarian, colon, prostate, pancreas) occur at unusually young ages.<\/li>\n\n\n\n<li>When an individual develops several primary cancer types.<\/li>\n\n\n\n<li>In families with known pathogenic genetic variants.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Conclusion<\/h2>\n\n\n\n<p>Preventive genomics is transforming our approach to hereditary cancer care. Detecting risk variants in asymptomatic people offers the chance to get ahead of disease, reduce impact, and provide concrete options to protect personal and family health.<\/p>\n\n\n\n<p>Investing in genomic testing is not just a medical resource\u2014it&#8217;s a powerful, long-term strategy for prevention and family care.<a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2831645\"><\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Key References (2022\u20132025)<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Savatt JM et al. &#8220;Genomic Screening at a Single Health System.&#8221; JAMA Network Open. 2025;8(3):e2831645.<a href=\"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2831645\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Delacroix E et al. &#8220;Clinician Recommendation for Hereditary Genetic Testing.&#8221; Frontiers in Oncology. 2025;15:12190242.<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12190242\/\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Zhou K et al. &#8220;Evaluating variant pathogenicity prediction tools to support clinical genetic testing in cancer.&#8221; npj Genomic Medicine. 2025;10:88.<a href=\"https:\/\/www.nature.com\/articles\/s43856-025-00883-x\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Wegman-Ostrosky T et al. &#8220;Germline Genetic Variants in Cancer Predisposition Genes in Latin America and the Caribbean: A Review.&#8221; JCO Global Oncology. 2025.<a href=\"https:\/\/ascopubs.org\/doi\/10.1200\/GO-24-00433\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Culver JO et al. &#8220;Systematic evidence review and meta-analysis of pre- and post-test genetic counseling in genetic cancer risk assessment.&#8221; Genetics in Medicine. 2023;25(9):1610-1625.<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11981685\/\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/li>\n\n\n\n<li>Hughes BN et al. &#8220;Systematic mapping review of guidelines for BRCA1\/2 genetic testing in hereditary breast and ovarian cancer.&#8221; Cancer Genetics. 2023;268\u2013269:40\u201353.<\/li>\n<\/ul>\n\n\n\n<p>Hereditary Cancer \/ Genomic Testings<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dr. Mario Hugo Genero, MD &#8211; &gt;&gt;&gt;Cofounder-CEO aiGEN &#8211; Kendall Square &#8211; Cambridge &#8211; USA Why is genomics essential for hereditary cancer prevention? While most cancers arise due&#8230; <\/p>\n","protected":false},"author":1,"featured_media":149,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4,5,16,8,6,1,7],"tags":[],"class_list":["post-148","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-artificial-intelligence","category-cwgs","category-genomics","category-haplogroups","category-homo-sapiens","category-medicine-precision-medicine","category-omics"],"_links":{"self":[{"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/posts\/148","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=148"}],"version-history":[{"count":1,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/posts\/148\/revisions"}],"predecessor-version":[{"id":151,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/posts\/148\/revisions\/151"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=\/wp\/v2\/media\/149"}],"wp:attachment":[{"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=148"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=148"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/drmariogenero.xyz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=148"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}