{"id":1201,"date":"2016-05-22T04:49:40","date_gmt":"2016-05-22T04:49:40","guid":{"rendered":"https:\/\/www.primarycaregenetics.org\/?page_id=1201"},"modified":"2018-02-02T10:26:20","modified_gmt":"2018-02-02T10:26:20","slug":"proc-je-genetika-dulezita-pro-primarni-peci","status":"publish","type":"page","link":"https:\/\/www.primarycaregenetics.org\/?page_id=1201&lang=cz","title":{"rendered":"Pro\u010d je genetika d\u016fle\u017eit\u00e1 pro prim\u00e1rn\u00ed p\u00e9\u010di?"},"content":{"rendered":"

Pacienti, kte\u0159\u00ed sh\u00e1n\u011bj\u00ed informace o onemocn\u011bn\u00ed, kter\u00e9 by mohlo m\u00edt genetick\u00e9 p\u0159\u00ed\u010diny, se v\u011bt\u0161inou nejprve obr\u00e1t\u00ed pro radu na sv\u00e9ho registruj\u00edc\u00edho l\u00e9ka\u0159e. L\u00e9ka\u0159i v prim\u00e1rn\u00ed p\u00e9\u010di v\u0161ak vypov\u00eddaj\u00ed, \u017ee jim chyb\u00ed znalosti o genetice, kter\u00e9 by mohli uplatnit v ka\u017edodenn\u00ed praxi, a jejich schopnosti tuto skupinu pacient\u016f spr\u00e1vn\u011b informovat jsou omezen\u00e9. (1, 2)<\/sup><\/p>\n

Vz\u00e1cn\u00e1 onemocn\u011bn\u00ed postihuj\u00ed p\u0159ibli\u017en\u011b 7 % Evropan\u016f, tj. 30 mili\u00f3n\u016f osob. Asi 80% vz\u00e1cn\u00fdch onemocn\u011bn\u00ed pak m\u00e1 genetick\u00fd podklad (3).<\/sup> Je tedy pravd\u011bpodobn\u00e9, \u017ee mnoh\u00e9 pacienty, kte\u0159\u00ed vyhledaj\u00ed pomoc l\u00e9ka\u0159\u016f prim\u00e1rn\u00ed p\u00e9\u010de \u010di si od nich vy\u017e\u00e1daj\u00ed informace, tr\u00e1p\u00ed obavy z n\u011bkter\u00e9 z t\u011bchto chorob.<\/p>\n

Pacienti s genetick\u00fdm rizikem \u010dasto nejsou spr\u00e1vn\u011b identifikov\u00e1ni, nejsou odesl\u00e1n\u00ed na specializovan\u00e9 pracovi\u0161t\u011b a n\u00e1sledn\u011b nejsou vhodn\u011b l\u00e9\u010deni (4)<\/sup>. M\u016f\u017ee to b\u00fdt proto, \u017ee si sami nejsou v\u011bdomi toho, \u017ee jejich obt\u00ed\u017ee mohou m\u00edt genetick\u00fd z\u00e1klad, nebo nev\u011bdomost\u00ed l\u00e9ka\u0159\u016f prim\u00e1rn\u00ed p\u00e9\u010de, na kter\u00e9 se obracej\u00ed.<\/p>\n

Nerozpozn\u00e1n\u00ed genetick\u00e9ho rizika m\u016f\u017ee m\u00edt z\u00e1va\u017en\u00fd dopad pro celou rodinu \u2013 nap\u0159. t\u00edm, \u017ee nen\u00ed zah\u00e1jena spr\u00e1vn\u00e1 dispenzarizace, nejsou implementov\u00e1na preventivn\u00ed opat\u0159en\u00ed medikament\u00f3zn\u00ed nebo chirurgick\u00e1, nejsou provedena preventivn\u00ed vy\u0161et\u0159en\u00ed.<\/p>\n

D\u016fsledkem je zv\u00fd\u0161en\u00ed nemocnosti, \u00famrtnosti, rodinn\u00e9 z\u00e1t\u011b\u017ee a n\u00e1klad\u016f na zdravotn\u00ed p\u00e9\u010di.<\/p>\n

Osv\u011bta o rizic\u00edch a mo\u017en\u00e9m managementu geneticky podm\u00edn\u011bn\u00fdch onemocn\u011bn\u00ed m\u00e1 proto velk\u00fd v\u00fdznam jak pro pacienta, tak pro \u0161ir\u0161\u00ed rodinu.<\/p>\n

Odkazy<\/strong><\/p>\n

    \n
  1. Houwink EJ, van Luijk SJ, Henneman L, van der Vleuten C, Jan Dinant G, Cornel MC. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Family Practice. 2011;12:5-.<\/li>\n
  2. Houwink EJF, Henneman L, Westerneng M, van Luijk SJ, Cornel MC, Dinant JG, et al. Prioritization of future genetics education for general practitioners: a Delphi study. Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. 2012;14(3):323-9.<\/li>\n
  3. Rare Diseases UK<\/a> , \u010cesk\u00e1 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed<\/a><\/li>\n
  4. Baars MJH, Henneman L, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. 2005;7(9):605-10.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Pacienti, kte\u0159\u00ed sh\u00e1n\u011bj\u00ed informace o onemocn\u011bn\u00ed, kter\u00e9 by mohlo m\u00edt genetick\u00e9 p\u0159\u00ed\u010diny, se v\u011bt\u0161inou nejprve obr\u00e1t\u00ed pro radu na sv\u00e9ho registruj\u00edc\u00edho l\u00e9ka\u0159e. L\u00e9ka\u0159i v prim\u00e1rn\u00ed p\u00e9\u010di v\u0161ak vypov\u00eddaj\u00ed, \u017ee jim chyb\u00ed znalosti o genetice, kter\u00e9 by mohli uplatnit v ka\u017edodenn\u00ed praxi, a jejich schopnosti tuto skupinu pacient\u016f spr\u00e1vn\u011b informovat jsou omezen\u00e9. (1, 2) Vz\u00e1cn\u00e1 onemocn\u011bn\u00ed postihuj\u00ed p\u0159ibli\u017en\u011b 7 % Evropan\u016f, tj. 30 mili\u00f3n\u016f osob. Asi 80% vz\u00e1cn\u00fdch onemocn\u011bn\u00ed pak m\u00e1 genetick\u00fd podklad (3). Je tedy pravd\u011bpodobn\u00e9, \u017ee mnoh\u00e9 pacienty, kte\u0159\u00ed […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-fullwidth.php","meta":{"ngg_post_thumbnail":0},"_links":{"self":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1201"}],"collection":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1201"}],"version-history":[{"count":9,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1201\/revisions"}],"predecessor-version":[{"id":2559,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1201\/revisions\/2559"}],"wp:attachment":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1201"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}