{"id":12809,"date":"2022-12-16T12:45:19","date_gmt":"2022-12-16T10:45:19","guid":{"rendered":"https:\/\/eestiarst.ee\/en\/?p=12809"},"modified":"2022-12-16T12:45:19","modified_gmt":"2022-12-16T10:45:19","slug":"actionable-secondary-findings-in-genetics","status":"publish","type":"post","link":"https:\/\/eestiarst.ee\/en\/actionable-secondary-findings-in-genetics\/","title":{"rendered":"Actionable secondary findings in genetics"},"content":{"rendered":"<p>In clinical practice, sequencing of the whole exome (1\u20132% of the genome) in patients with a suspected genetic disorder has rapidly<br \/>\nexpanded due to its high diagnostic yield (~30%). The exome dataset (&gt;80,000 genetic variants) may also contain secondary findings \u2013 pathogenic variants not responsible for the patient\u2019s primary health concern. Secondary findings linked to medically<br \/>\nactionable monogenic diseases affect about 1\u20133% of the general population. The onset of symptoms in several such conditions is<br \/>\nsudden, with high morbidity and mortality rates. Awareness of the subject\u2019s life-long risk for developing a genetic disorder enables<br \/>\napplication of available preventive or alleviating medical interventions (e.g. dietary restrictions, specific drugs, surgery, surveillance). This article provides an overview of medically actionable monogenic disorders and their pre-symptomatic intervention options, distribution of secondary findings identified in exome datasets, as well as current international views and guidelines regulating their return to the patients.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>In clinical practice, sequencing of the whole exome (1\u20132% of the genome) in patients with a suspected genetic disorder has rapidly expanded due to its high diagnostic yield (~30%). The exome dataset (&gt;80,000 genetic variants) may also contain secondary findings \u2013 pathogenic variants not responsible for the patient\u2019s primary health concern. Secondary findings linked to &#8230;<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2],"tags":[1538],"class_list":["post-12809","post","type-post","status-publish","format-standard","hentry","category-articles","tag-review","authors-kristiina-lillepea","authors-laura-kasak","authors-maris-laan"],"acf":[],"_links":{"self":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/12809","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/comments?post=12809"}],"version-history":[{"count":1,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/12809\/revisions"}],"predecessor-version":[{"id":12810,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/12809\/revisions\/12810"}],"wp:attachment":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/media?parent=12809"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/categories?post=12809"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/tags?post=12809"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}