{"id":1228,"date":"2016-05-22T05:09:06","date_gmt":"2016-05-22T05:09:06","guid":{"rendered":"https:\/\/www.primarycaregenetics.org\/?page_id=1228"},"modified":"2018-02-09T15:01:49","modified_gmt":"2018-02-09T15:01:49","slug":"osnovy-kurzu-genetiky-pro-primarni-peci","status":"publish","type":"page","link":"https:\/\/www.primarycaregenetics.org\/?page_id=1228&lang=cz","title":{"rendered":"Osnovy kurzu genetiky pro prim\u00e1rn\u00ed p\u00e9\u010di"},"content":{"rendered":"

Tyto vzd\u011bl\u00e1vac\u00ed osnovy byly navr\u017eeny v r\u00e1mci projektu Gen-Equip. Jednotliv\u00e1 t\u00e9mata vypracoval projektov\u00fd t\u00fdm. V \u00favodu byla provedena systematick\u00e1 anal\u00fdza relevantn\u00ed literatury a byly zji\u0161t\u011bny vzd\u011bl\u00e1vac\u00ed pot\u0159eby pracovn\u00edk\u016f prim\u00e1rn\u00ed p\u00e9\u010de. Samotn\u00e9 osnovy byly pot\u00e9 vypracov\u00e1ny v r\u00e1mci workshopu, jeho\u017e se z\u00fa\u010dastnili odborn\u00edci z oblasti prim\u00e1rn\u00ed p\u00e9\u010de, vzd\u011bl\u00e1v\u00e1n\u00ed v oblasti zdrav\u00ed a d\u00e1le klini\u010dt\u00ed genetici.<\/p>\n

Tyto osnovy pova\u017eujeme za dynamick\u00fd n\u00e1stroj, s jeho\u017e pomoc\u00ed by m\u011bl b\u00fdt vzd\u011bl\u00e1vac\u00ed program vytvo\u0159en; vzhledem k v\u00fdvoji na poli genetiky a prim\u00e1rn\u00ed p\u00e9\u010de by v\u0161ak m\u011bly b\u00fdt pravideln\u011b revidov\u00e1ny a dle pot\u0159eby dopl\u0148ov\u00e1ny tak, aby v\u017edy odpov\u00eddaly aktu\u00e1ln\u00edm pot\u0159eb\u00e1m pracovn\u00edk\u016f prim\u00e1rn\u00ed p\u00e9\u010de. P\u0159iv\u00edt\u00e1me proto jak\u00e9koli p\u0159ipom\u00ednky a n\u00e1vrhy \u2013 ty pros\u00edm sm\u011b\u0159ujte na Heather Skirton (heather.skirton@plymouth.ac.uk<\/a>).<\/p>\n

 <\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
1. Z\u00e1kladn\u00ed \u00a0problematika<\/strong><\/td>\n<\/tr>\n
T\u00e9mata<\/strong><\/td>\nPodrobnosti<\/strong><\/td>\n<\/tr>\n
Pro\u010d je znalost \u00a0genetiky d\u016fle\u017eit\u00e1 pro zdravotn\u00edky prim\u00e1rn\u00ed p\u00e9\u010de?<\/strong><\/td>\nPro\u010d je znalost genetiky a genomiky d\u016fle\u017eit\u00e1 pro zdravotn\u00edky prim\u00e1rn\u00ed p\u00e9\u010de
\nTypy obt\u00ed\u017e\u00ed s genetick\u00fdm nebo genomick\u00fdm z\u00e1kladem, s nimi\u017e se lze obvykle setkat v prim\u00e1rn\u00ed p\u00e9\u010di<\/td>\n<\/tr>\n
Rodinn\u00e1 anamn\u00e9za<\/strong><\/td>\nP\u0159\u00edbuzn\u00ed prvostup\u0148ov\u00ed, druhostup\u0148ov\u00ed atd. D\u016fvody, pro\u010d odebrat rodinnou anamn\u00e9zu. D\u016fle\u017eit\u00e9 aspekty rodinn\u00e9 anamn\u00e9zy. Interpretace informac\u00ed v rodinn\u00e9 anamn\u00e9ze. P\u0159esn\u00e9 zaznamen\u00e1n\u00ed a aktualizace rodinn\u00e9 anamn\u00e9zy<\/p>\n

Zaznamen\u00e1n\u00ed rodokmenu<\/p>\n

P\u0159\u00edklady ot\u00e1zek vedouc\u00edch k z\u00edsk\u00e1n\u00ed spr\u00e1vn\u00fdch informac\u00ed<\/td>\n<\/tr>\n

Varovn\u00e9 sign\u00e1ly v rodinn\u00e9 anamn\u00e9ze<\/strong><\/td>\nJak poznat, \u017ee obt\u00ed\u017ee mohou m\u00edt genetick\u00fd podklad, nap\u0159. v\u00fdskyt onemocn\u011bn\u00ed v mlad\u0161\u00edm v\u011bku, ne\u017e je obvykl\u00e9, v\u00fdskyty oboustrann\u00fdch onemocn\u011bn\u00ed<\/td>\n<\/tr>\n
Co d\u011bl\u00e1 klinick\u00fd genetik<\/strong><\/td>\nOdebr\u00e1n\u00ed rodinn\u00e9 a osobn\u00ed anamn\u00e9zy, vy\u0161et\u0159en\u00ed, vyhodnocen\u00ed rizika, diagnostika. Pou\u017e\u00edvan\u00e9 typy test\u016f v\u010detn\u011b testov\u00e1n\u00ed diagnostick\u00e9ho, \u00a0presymptomatick\u00e9ho, testov\u00e1n\u00ed p\u0159ena\u0161e\u010dstv\u00ed a prenat\u00e1ln\u00ed diagnostiky<\/td>\n<\/tr>\n
Indikace k odesl\u00e1n\u00ed pacienta ke genetick\u00e9mu vy\u0161et\u0159en\u00ed<\/strong><\/td>\nDoporu\u010den\u00e9 postupy pro odes\u00edl\u00e1n\u00ed pacient\u016f ke genetick\u00e9mu vy\u0161et\u0159en\u00ed<\/td>\n<\/tr>\n
Jak odeslat pacienta ke genetick\u00e9mu vy\u0161et\u0159en\u00ed?<\/strong><\/td>\nJak a kam odeslat pacienta ke genetick\u00e9mu vy\u0161et\u0159en\u00ed<\/td>\n<\/tr>\n
Vysv\u011btlen\u00ed v\u00fdsledku test\u016f pacient\u016fm<\/strong><\/td>\nMo\u017en\u00e9 typy v\u00fdsledk\u016f genetick\u00fdch test\u016f; pozitivn\u00ed, negativn\u00ed, varianty nejasn\u00e9ho v\u00fdznamu D\u016fle\u017eit\u00e9 informace p\u0159i prob\u00edr\u00e1n\u00ed v\u00fdsledk\u016f vy\u0161et\u0159en\u00ed.<\/td>\n<\/tr>\n
Etick\u00e9 a soci\u00e1ln\u00ed aspekty genetiky v prim\u00e1rn\u00ed p\u00e9\u010di<\/strong><\/td>\nD\u016fv\u011brnost. Sd\u011blov\u00e1n\u00ed informac\u00ed p\u0159\u00edbuzn\u00fdm\/zdravotnick\u00fdm pracovn\u00edk\u016fm. Pokrevn\u00ed p\u0159\u00edbuznost.<\/p>\n

Prenat\u00e1ln\u00ed testy<\/p>\n

P\u0159eru\u0161en\u00ed t\u011bhotenstv\u00ed<\/p>\n

Dopad diagn\u00f3zy \u010di v\u00fdsledk\u016f test\u016f na podm\u00ednky hypot\u00e9ky nebo \u017eivotn\u00edho poji\u0161t\u011bn\u00ed.<\/td>\n<\/tr>\n

Z\u00e1kladn\u00ed genetick\u00e9 informace a typy d\u011bdi\u010dnosti<\/strong><\/td>\nMutace. Chromozom\u00e1ln\u00ed aberace, aneuploidie. Mendelovsk\u00e1 d\u011bdi\u010dnost.<\/p>\n

Mitochondri\u00e1ln\u00ed d\u011bdi\u010dnost.<\/p>\n

Multifaktori\u00e1ln\u00ed onemocn\u011bn\u00ed.<\/td>\n<\/tr>\n

2. Specifick\u00e1 problematika<\/strong><\/td>\n<\/tr>\n
Prenat\u00e1ln\u00ed genetick\u00e1 p\u00e9\u010de<\/strong><\/td>\nRodinn\u00e1 anamn\u00e9za a riziko spojen\u00e9 s genetick\u00fdmi vadami u matky. Riziko vzniku genetick\u00fdch vad u plodu.<\/p>\n

Jak porozum\u011bt rizik\u016fm a jak je sd\u011blovat.<\/p>\n

U\u017e\u00edv\u00e1n\u00ed kyseliny listov\u00e9 v\u00a0t\u011bhotenstv\u00ed. Medikace v\u00a0t\u011bhotenstv\u00ed.<\/td>\n<\/tr>\n

Prekoncep\u010dn\u00ed p\u00e9\u010de<\/strong><\/td>\nScreening vrozen\u00fdch vad v\u00a0t\u011bhotenstv\u00ed. \u00a0Postup p\u0159i odes\u00edl\u00e1n\u00ed pacient\u016f ke genetick\u00e9mu vy\u0161et\u0159en\u00ed. Prenat\u00e1ln\u00ed genetick\u00e9 testy<\/p>\n

Typy invazivn\u00edch vy\u0161et\u0159en\u00ed<\/p>\n

Odebr\u00e1n\u00ed rodinn\u00e9 anamn\u00e9zy a jej\u00ed interpretace<\/p>\n

V\u00fdznam etnick\u00e9 p\u0159\u00edslu\u0161nosti p\u0159i vyhodnocov\u00e1n\u00ed rizika genetick\u00e9ho onemocn\u011bn\u00ed<\/p>\n

Pokrevn\u00ed p\u0159\u00edbuzenstv\u00ed<\/p>\n

U\u017e\u00edv\u00e1n\u00ed kyseliny listov\u00e9<\/p>\n

Vliv \u017eivotn\u00edho stylu, nap\u0159. kou\u0159en\u00ed a konzumace alkoholu<\/p>\n

P\u0159edepsan\u00e9 l\u00e9ky a jejich vliv na v\u00fdvoj plodu
\nNeinvazivn\u00ed prenat\u00e1ln\u00ed diagnostika\/invazivn\u00ed testy
\nProveden\u00ed preimplanta\u010dn\u00ed genetick\u00e9 diagnostiky
\nEtick\u00e9 ot\u00e1zky prenat\u00e1ln\u00edho testov\u00e1n\u00ed
\nPreimplanta\u010dn\u00ed genetick\u00e1 diagnostika
\nEtick\u00e9 ot\u00e1zky prenat\u00e1ln\u00ed diagnostiky<\/td>\n<\/tr>\n

Pediatrick\u00e1 p\u00e9\u010de<\/strong><\/td>\nDiagnostika v\u00a0pediatrii. Pou\u017eit\u00ed modern\u00edch technologi\u00ed ke stanoven\u00ed diagn\u00f3zy. Rizika rekurence onemocn\u011bn\u00ed u sourozenc\u016f<\/td>\n<\/tr>\n
N\u00e1dory v\u00a0dosp\u011bl\u00e9m v\u011bku<\/strong><\/td>\nPojet\u00ed rakoviny jako onemocn\u011bn\u00ed v z\u00e1sad\u011b v\u017edy zp\u016fsobovan\u00e9ho genetick\u00fdmi zm\u011bnami, av\u0161ak s vysok\u00fdm rizikem u d\u011bdi\u010dn\u00fdch forem onemocn\u011bn\u00ed. Popula\u010dn\u00ed rizika<\/p>\n

Pou\u017e\u00edv\u00e1n\u00ed aktu\u00e1ln\u00ed rodinn\u00e9 anamn\u00e9zy<\/p>\n

Podrobn\u011bj\u0161\u00ed informace t\u00fdkaj\u00edc\u00ed se:<\/p>\n

    \n
  • \u00a0 \u00a0 D\u011bdi\u010dn\u00e9 formy karcinomu prsu a vaje\u010dn\u00edk\u016f<\/li>\n
  • \u00a0 \u00a0 D\u011bdi\u010dn\u00fdch n\u00e1dor\u016f tlust\u00e9ho st\u0159eva (v\u010detn\u011b Lynchova syndromu)<\/li>\n
  • \u00a0\u00a0 Vz\u00e1cn\u00fdch n\u00e1dorov\u00fdch syndrom\u016f<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n
<\/td>\n <\/p>\n

Varovn\u00e9 sign\u00e1ly <\/strong><\/td>\n<\/tr>\n

<\/td>\nAlgoritmy pro zhodnocen\u00ed rizika p\u0159i rozhodov\u00e1n\u00ed o odesl\u00e1n\u00ed pacienta na specializovan\u00e9 pracovi\u0161t\u011b.<\/p>\n

Postup p\u0159i odes\u00edl\u00e1n\u00ed pacient\u016f do poradny pro d\u011bdi\u010dn\u011b podm\u00edn\u011bn\u00e1 onemocn\u011bn\u00ed.<\/p>\n

Pro\u010d ne ka\u017ed\u00fd pacient s rodinnou anamn\u00e9zou n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed nemus\u00ed b\u00fdt odesl\u00e1n ke genetick\u00e9mu vy\u0161et\u0159en\u00ed<\/p>\n

Jak porozum\u011bt rizik\u016fm a jak rizika vysv\u011btlovat<\/td>\n<\/tr>\n

<\/td>\nPou\u017eit\u00ed postup\u016f personalizovan\u00e9 medic\u00edny k p\u0159esn\u011bj\u0161\u00edmu zac\u00edlen\u00ed l\u00e9\u010dby<\/td>\n<\/tr>\n
\u00a0Kardiovaskul\u00e1rn\u00ed onemocn\u011bn\u00ed u dosp\u011bl\u00fdch<\/strong><\/td>\nD\u011bdi\u010dn\u00e9 formy b\u011b\u017en\u00fdch chorob jako arytmie, kardiomyopatie, famili\u00e1rn\u00ed hypercholesterol\u00e9mie. D\u016fvody, pro\u010d odeb\u00edrat rodinnou anamn\u00e9zu (nap\u0159. i p\u0159i n\u00e1hl\u00e9m \u00famrt\u00ed srde\u010dn\u00ed etiologie) a zaji\u0161\u0165ovat jej\u00ed aktu\u00e1lnost.<\/td>\n<\/tr>\n
<\/td>\nPopula\u010dn\u00ed rizika. Algoritmy pro zhodnocen\u00ed rizika p\u0159i rozhodov\u00e1n\u00ed o odesl\u00e1n\u00ed pacienta na specializovan\u00e9 pracovi\u0161t\u011b.
\nPostup p\u0159i odes\u00edl\u00e1n\u00ed pacient\u016f ve va\u0161i zemi Jak porozum\u011bt rizik\u016fm a jak je sd\u011blovat. Jak porozum\u011bt v\u00fdsledk\u016fm test\u016f p\u0159i n\u00e1lezu zn\u00e1m\u00fdch mutac\u00ed, absence mutac\u00ed nebo variant nejasn\u00e9ho v\u00fdznamu<\/td>\n<\/tr>\n
<\/td>\nMo\u017enosti screeningu a prevence. V\u00fdznam v\u00fdvoje znalost\u00ed a managementu s\u00a0vypl\u00fdvaj\u00edc\u00ed nutnost\u00ed reviz\u00ed p\u0159\u00edpad\u016f v\u00a0\u010dase. \u00a0Personalizovan\u00e1 medic\u00edna pro p\u0159esn\u011bji c\u00edlenou l\u00e9\u010dbu<\/td>\n<\/tr>\n
\u00a0Farmakogenomika<\/strong><\/td>\nVyjasn\u011bn\u00ed pojmu farmakogenomika P\u0159\u00edklady vhodn\u00fdch aplikac\u00ed v prim\u00e1rn\u00ed p\u00e9\u010di (nap\u0159. test na statinovou intoleranci, vylou\u010den\u00ed l\u00e9\u010dby \u017eelezem u p\u0159ena\u0161e\u010d\u016f talas\u00e9mie). P\u0159\u00edklady aplikac\u00ed p\u0159i l\u00e9\u010db\u011b n\u00e1dor\u016f.<\/td>\n<\/tr>\n
Genomika<\/strong><\/td>\nPrediktivn\u00ed hodnota test\u016f, p\u0159edev\u0161\u00edm u b\u011b\u017en\u00fdch onemocn\u011bn\u00ed. Pou\u017e\u00edv\u00e1n\u00ed celoexomov\u00e9ho sekvenov\u00e1n\u00ed a celogenomov\u00e9ho sekvenov\u00e1n\u00ed. Zaji\u0161t\u011bn\u00ed evidence pro vyu\u017e\u00edv\u00e1n\u00ed nov\u00fdch rapidn\u011b se vyv\u00edjej\u00edc\u00edch testovac\u00edch metod, nap\u0159. NIPT.<\/td>\n<\/tr>\n
<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Auto\u0159i<\/strong><\/p>\n

Autory tohoto dokumentu jsou partne\u0159i zapojen\u00ed do projektu Gen-Equip:<\/p>\n

Heather Skirton, Leigh Jackson, Peter Lunt, Elisa Houwink, Martina Cornel, Daniela Turchetti, Alastair Kent, Stuart Pritchard, Milena Paneque, Vigdis Stefansdottir, V\u00e1clava Curtisov\u00e1.<\/p>\n

Za dodate\u010dn\u00e9 p\u0159\u00edsp\u011bvky d\u011bkujeme Nadeemu Qureshimu.<\/p>\n

Toto d\u00edlo odr\u00e1\u017e\u00ed pouze n\u00e1zory autor\u016f. Evropsk\u00e1 komise ani spole\u010dnost Ecorys UK neodpov\u00eddaj\u00ed za to, jak budou informace, je\u017e jsou v n\u011bm uvedeny, pou\u017eity.<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

Tyto vzd\u011bl\u00e1vac\u00ed osnovy byly navr\u017eeny v r\u00e1mci projektu Gen-Equip. Jednotliv\u00e1 t\u00e9mata vypracoval projektov\u00fd t\u00fdm. V \u00favodu byla provedena systematick\u00e1 anal\u00fdza relevantn\u00ed literatury a byly zji\u0161t\u011bny vzd\u011bl\u00e1vac\u00ed pot\u0159eby pracovn\u00edk\u016f prim\u00e1rn\u00ed p\u00e9\u010de. Samotn\u00e9 osnovy byly pot\u00e9 vypracov\u00e1ny v r\u00e1mci workshopu, jeho\u017e se z\u00fa\u010dastnili odborn\u00edci z oblasti prim\u00e1rn\u00ed p\u00e9\u010de, vzd\u011bl\u00e1v\u00e1n\u00ed v oblasti zdrav\u00ed a d\u00e1le klini\u010dt\u00ed genetici. Tyto osnovy pova\u017eujeme za dynamick\u00fd n\u00e1stroj, s jeho\u017e pomoc\u00ed by m\u011bl b\u00fdt vzd\u011bl\u00e1vac\u00ed program vytvo\u0159en; vzhledem k v\u00fdvoji na poli genetiky a prim\u00e1rn\u00ed p\u00e9\u010de by v\u0161ak […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":1225,"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\/1228"}],"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=1228"}],"version-history":[{"count":7,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1228\/revisions"}],"predecessor-version":[{"id":2570,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1228\/revisions\/2570"}],"up":[{"embeddable":true,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/1225"}],"wp:attachment":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1228"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}