{"id":7145,"date":"2026-01-23T00:00:00","date_gmt":"2026-01-23T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1722462"},"modified":"2026-01-23T00:00:00","modified_gmt":"2026-01-23T00:00:00","slug":"elective-genomic-screening-results-of-the-implementation-of-a-whole-genome-sequencing-program-at-a-medical-check-up-unit-in-spain","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/23\/elective-genomic-screening-results-of-the-implementation-of-a-whole-genome-sequencing-program-at-a-medical-check-up-unit-in-spain\/","title":{"rendered":"Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain"},"content":{"rendered":"Elective Genomic Testing (EGT) can identify individuals at risk for actionable conditions that would not come to clinical attention following current testing guidelines. We describe the results of a checkup unit from a leading Spanish University hospital (Cl\u00ednica Universidad de Navarra, Spain) that has incorporated EGT to their regular clinical practice. Medical anamnesis, biochemistry, low-intensity whole body scan and EGT with interpretation of over 560 genes related to actionable adult-onset diseases (Veritas Intercontinental, Spain) was performed in 400 participants, including medical consultation before and after the checkup. Clinically relevant variants were identified in 79\/400 participants (19.8%). Thirteen individuals (3.3%) presented with clinical variants included in the American College of Medical Genetics and Genomics secondary finding list (ACMG SF list); 69.2% of these variants showed potential association with personal or family history (PFH). The study presents the results of the first hospital integrating EGT into the checkup unit.","protected":false},"excerpt":{"rendered":"<p>Elective Genomic Testing (EGT) can identify individuals at risk for actionable conditions that would not come to clinical attention following current testing guidelines. We describe the results of a checkup unit from a leading Spanish University hospit&#8230;<\/p>\n","protected":false},"author":375,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,12,13,82],"tags":[71],"class_list":["post-7145","post","type-post","status-publish","format-standard","hentry","category-articulos","category-enfermedades-raras","category-frontiers-in-genetics","category-original-research","tag-frontgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7145","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/375"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=7145"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7145\/revisions"}],"predecessor-version":[{"id":7146,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7145\/revisions\/7146"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=7145"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=7145"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=7145"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}