{"id":40,"date":"2023-12-19T17:00:14","date_gmt":"2023-12-19T17:00:14","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=75b622028180568bb669cb6b4ed8c000"},"modified":"2023-12-19T17:00:14","modified_gmt":"2023-12-19T17:00:14","slug":"recontact-to-return-new-or-updated-palb2-genetic-results-in-the-clinical-laboratory-setting","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/19\/recontact-to-return-new-or-updated-palb2-genetic-results-in-the-clinical-laboratory-setting\/","title":{"rendered":"Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting"},"content":{"rendered":"<sec><st>Objective<\/st><p>The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.<\/p><\/sec><sec><st>Methods<\/st><p>Genetic testing was conducted on 2977 individuals originally referred for <I>BRCA1<\/I> and <I>BRCA2<\/I> hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to <I>PALB2<\/I> for the purposes of this study. A patient recontact decision tree was developed to assist in the returning of updated genetic test results to clinics and patients.<\/p><\/sec><sec><st>Results<\/st><p>Novel clinically actionable pathogenic variants were identified in the <I>PALB2<\/I> gene in 18 participants (0.6%), the majority of whom were recontacted with their new or updated genetic test results. Eight individuals were unable to be recontacted; five individuals had already learnt about their new or updated findings from genetic testing outside the context of this study; three individuals prompted cascade testing in family members; two individuals were deceased.<\/p><\/sec><sec><st>Conclusion<\/st><p>Novel pathogenic variants in <I>PALB2<\/I> were identified in 18 individuals through retrospective gene panel testing. Recontacting these individuals regarding these new or updated findings had a range of outcomes. The process of conveying genomic results within this framework can be effectively accomplished while upholding patient autonomy, potentially leading to advantageous outcomes for patients and their families.<\/p><\/sec>","protected":false},"excerpt":{"rendered":"<p>ObjectiveThe purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.MethodsGenetic testing was condu&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8],"tags":[],"class_list":["post-40","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/40","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"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=40"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/40\/revisions"}],"predecessor-version":[{"id":41,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/40\/revisions\/41"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=40"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=40"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=40"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}