{"id":1158,"date":"2017-04-08T16:06:17","date_gmt":"2017-04-08T14:06:17","guid":{"rendered":"http:\/\/www.newslab.sk\/2017\/04\/08\/personalizovana-medicina-alebo-kam-smeruje-zdravotna-starostlivost-v-ere-velkych-dat\/"},"modified":"2017-08-27T13:28:11","modified_gmt":"2017-08-27T11:28:11","slug":"personalised-medicine-or-where-is-healthcare-heading-in-the-era-of-big-data","status":"publish","type":"post","link":"https:\/\/www.newslab.sk\/en\/personalised-medicine-or-where-is-healthcare-heading-in-the-era-of-big-data\/","title":{"rendered":"Personalised Medicine or Where is Healthcare Heading in the Era of Big Data?"},"content":{"rendered":"

Hlavn\u00fdm \u00a0konceptom personalizovanej medic\u00edny je individu\u00e1lny n\u00e1vrh \u00a0zdravotnej starostlivosti na z\u00e1klade genetick\u00fdch predpokladov a in\u00fdch molekul\u00e1rnych prejavov konkr\u00e9tnych pacientov, ich \u017eivotn\u00e9ho \u0161t\u00fdlu\u00a0 aj prostrediu. Z\u00e1kladn\u00e1 t\u00e9za \u00a0personalizovanej medic\u00edny, \u010di\u017ee prisp\u00f4sobenie starostlivosti konkr\u00e9tnym pacientom, vlastne ani nie je nov\u00e1, ke\u010f\u017ee u\u017e prv\u00e9 zdravotn\u00e9 z\u00e1kroky boli zv\u00e4\u010d\u0161a individualizovan\u00e9 a zalo\u017een\u00e9 na \u00a0najlep\u0161\u00edch vedomostiach lie\u010dite\u013eov. \u00a0Probl\u00e9mom v\u0161ak \u00a0bolo, \u017ee boli zv\u00e4\u010d\u0161a neefekt\u00edvne, ke\u010f\u017ee \u00a0ich vykon\u00e1vate\u013eom ch\u00fdbali z\u00e1kladn\u00e9 vedomosti t\u00fdkaj\u00face sa biol\u00f3gie konkr\u00e9tnych \u00a0ochoren\u00ed(1). V\u010faka pokrokom 20. storo\u010dia \u2013 hlavne v oblasti genetiky a molekul\u00e1rnej biol\u00f3gie \u2013 sa v\u0161ak tento probl\u00e9m za\u010dal \u00a0pomali\u010dky eliminova\u0165, \u00a0pri\u010dom \u00a0do \u00a0stredobodu personalizovanej starostlivosti sa dostali genetick\u00e9 anal\u00fdzy. Na prelome 20. a 21. storo\u010dia za pomerne kr\u00e1tky \u010das nastal obrovsk\u00fd \u00a0technologick\u00fd skok v tejto oblasti, \u00a0\u010doho \u00a0n\u00e1sledkom dnes mo\u017eno \u0161tudova\u0165 gen\u00f3m prakticky \u00a0u ka\u017ed\u00e9ho \u010dloveka. \u00a0Dozvedeli sme sa v\u0161ak aj to, \u017ee \u0161t\u00fadium organizmu len na \u00farovni nukleov\u00fdch kysel\u00edn \u00a0neumo\u017e\u0148uje odhali\u0165 v\u0161etko, \u010do\u00a0 potrebujeme vedie\u0165 na\u00a0 pochopenie s\u00favislost\u00ed medzi DNA, zdrav\u00edm \u00a0a chorobou, \u010di\u017ee iba sekvenovanie DNA neodhal\u00ed v\u0161etky \u00a0s\u00favislosti medzi \u00a0genotypom a fenotypom.<\/p>\n

Dnes v\u0161ak mo\u017eno vo ve\u013ekom \u0161tudova\u0165 popri DNA napr. jej chemick\u00e9 modifik\u00e1cie (metyla\u010dn\u00e9 vzory), expresn\u00e9 profily vo forme transkript\u00f3mu (RNA) a prote\u00f3mu vybran\u00fdch tkan\u00edv(2), posttransla\u010dn\u00e9 modifik\u00e1cie prote\u00ednov, ale \u00a0tie\u017e \u00a0r\u00f4zne \u00a0in\u00e9 \u201e\u00f3my\u201c, ako metabol\u00f3m, mikrobi\u00f3m, \u00a0at\u010f. \u00a0Pod\u013ea o\u010dak\u00e1van\u00ed by n\u00e1s to \u00a0malo \u00a0privies\u0165 \u00a0bli\u017e\u0161ie \u00a0k prec\u00edznemu sp\u00e1janiu genomick\u00fdch a h\u013abkov\u00fdch fenotypov\u00fdch d\u00e1t s n\u00e1dejou, \u017ee \u010d\u00edm hlb\u0161ie\u00a0p\u00f4jdeme, t\u00fdm viac sa dozvieme, pri\u010dom by mala tak\u00e1to \u201eh\u013abkov\u00e1 fenotypiz\u00e1cia\u201c umo\u017eni\u0165 stratifikova\u0165 ochorenia do subtypov \u00a0pod\u013ea \u00a0ich \u00a0konkr\u00e9tnych \u00a0molekul\u00e1rnych \u00a0charakterist\u00edk(3). Boom technologick\u00fdch vymo\u017eenost\u00ed v\u0161ak nezostal iba na molekul\u00e1rnej \u00farovni a zasiahol aj vy\u0161\u0161ie funk\u010dn\u00e9 \u00farovne organizmu, umo\u017e\u0148uj\u00fac v\u00fdrazne\u00a0 efekt\u00edvnej\u0161iu fenotypiz\u00e1ciu pomocou detailn\u00e9ho person\u00e1lneho monitorovania. V tomto pr\u00edpade ani nemus\u00edme hovori\u0165 o finan\u010dne n\u00e1ro\u010dn\u00fdch \u0161pecializovan\u00fdch medic\u00ednskych zariadeniach na z\u00edskavanie d\u00e1t. V s\u00fa\u010dasnosti s\u00fa u\u017e be\u017en\u00e9 smartf\u00f3ny<\/em>, smart <\/em>hodinky alebo fitnesov\u00e9 n\u00e1ramky, ktor\u00e9 pon\u00fakaj\u00fa funkciu kontinu\u00e1lneho monitorovania z\u00e1kladn\u00fdch fyziologick\u00fdch \u00a0\u00fadajov\u00a0 vo forme teplomeru alebo \u00a0merania tepovej \u00a0a dychovej \u00a0frekvencie, \u00a0ale aj fyzickej \u00a0aktivity a vplyvov prostredia vo forme \u00a0krokomeru, v\u00fd\u0161komeru, barometra at\u010f. \u0160pecifickej\u0161ie sympt\u00f3my \u2013 napr. neurodegenerat\u00edvnych ochoren\u00ed \u2013 ako motorick\u00e9 a re\u010dov\u00e9 funkcie \u00a0sa zas \u00a0daj\u00fa monitorova\u0165 cez \u00a0\u0161peci\u00e1lne mobiln\u00e9 aplik\u00e1cie vyu\u017e\u00edvaj\u00face \u00a0z\u00e1kladn\u00e9 schopnosti dne\u0161n\u00fdch mobiln\u00fdch zariaden\u00ed: mikrof\u00f3n \u00a0m\u00f4\u017ee \u00a0nahr\u00e1va\u0165 \u00a0hlas, \u00a0triaxi\u00e1lny akcelerometer \u00a0deteguje pohyb \u00a0v troch \u00a0dimenzi\u00e1ch, \u00a0d\u00e1vaj\u00fac tak inform\u00e1ciu o postoji, \u00a0ch\u00f4dzi \u00a0a trasen\u00ed r\u00fak, gyroskop meria rot\u00e1ciu, \u00a0k\u00fdm dotykov\u00e1 \u00a0obrazovka umo\u017e\u0148uje hodnoti\u0165\u00a0 dotyky prstom a reak\u010dn\u00fd \u010das(4). Tak\u00e9to \u00a0\u201enosite\u013en\u00e9 \u00a0zariadenia\u201c, v spojen\u00ed s faktom, \u00a0\u017ee nimi disponuje \u010doraz v\u00e4\u010d\u0161ia \u010das\u0165 popul\u00e1cie, umo\u017e\u0148uj\u00fa z\u00edska\u0165 \u00a0nesmierne ve\u013ek\u00e9 mno\u017estvo inform\u00e1ci\u00ed v popula\u010dn\u00fdch meradl\u00e1ch, pri\u010dom \u00a0neumo\u017e\u0148uj\u00fa len sa pozera\u0165 \u00a0na ve\u013ek\u00e9 mno\u017estvo d\u00e1t, ale na ve\u013ek\u00e9 mno\u017estvo d\u00e1t z ve\u013ek\u00e9ho mno\u017estva r\u00f4znych zdrojov s\u00fabe\u017ene(5). Napriek niektor\u00fdm limit\u00e1ci\u00e1m v\u0161ak samotn\u00e9 generovanie d\u00e1t je v s\u00fa\u010dasnosti mo\u017eno u\u017e tou jednoduch\u0161ou a v mnoh\u00fdch pr\u00edpadoch aj lacnej\u0161ou \u010das\u0165ou pr\u00e1ce. Ve\u013ek\u00fa analytick\u00fa snahu v\u0161ak \u00a0vy\u017eaduje samotn\u00e1 interpret\u00e1cia z\u00edskan\u00fdch d\u00e1t, \u010di\u017ee ich vyu\u017eite\u013en\u00e9 preklopenie do priamej klinickej praxe. Pr\u00edval \u201eve\u013ek\u00fdch d\u00e1t\u201c predstavuje ve\u013ek\u00e9 n\u00e1roky \u00a0nielen \u00a0na\u00a0 ich skladovanie, ale\u00a0 s\u00fa schopn\u00e9 presiahnu\u0165 napr. \u00a0schopnosti informatick\u00fdch algoritmov analyzova\u0165 ich.<\/p>\n

Pri zvy\u0161ovan\u00ed po\u010dtu\u00a0 pacientov zahrnut\u00fdch do \u0161t\u00fadie napr\u00edklad narastaj\u00fa v\u00fdpo\u010dtov\u00e9 n\u00e1roky line\u00e1rne, len \u010do sa v\u0161ak prid\u00e1 do s\u00faboru viac premenn\u00fdch \u2013 napr. r\u00f4zne \u00a0typy d\u00e1t \u2013 a chceme ich kombinova\u0165, \u00a0n\u00e1roky \u00a0za\u010dn\u00fa narasta\u0165 exponenci\u00e1lne, \u010do m\u00f4\u017ee \u00a0paralyzova\u0165 algoritmy, ktor\u00e9 pri \u0161t\u00fadi\u00e1ch mal\u00fdch rozmerov funguj\u00fa dokonale. Rie\u0161enia na tieto probl\u00e9my \u00a0v\u0161ak existuj\u00fa, pri\u010dom \u00a0sa niekedy sta\u010d\u00ed pozrie\u0165 mimo \u00a0oblast\u00ed biomedic\u00ednskeho v\u00fdskumu. Odbory ako meteorol\u00f3gia, finan\u010dn\u00edctvo a astron\u00f3mia vyu\u017e\u00edvaj\u00fa integr\u00e1ciu r\u00f4znych \u00a0typov d\u00e1t u\u017e dlh\u0161ie obdobie, pri\u010dom pod\u013ea n\u00e1zorov niektor\u00fdch expertov biomedic\u00ednske \u201eve\u013ek\u00e9 d\u00e1ta\u201c sa zdaj\u00fa\u00a0mali\u010dk\u00e9 \u00a0pri \u201eve\u013ek\u00fdch d\u00e1tach\u201c, s ktor\u00fdmi pracuj\u00fa \u00a0napr. v Goo<\/em>gli <\/em>alebo \u00a0na Facebooku<\/em>. Jednou z mo\u017enost\u00ed je presun na rie\u0161enia tzv. cloudov<\/em>\u00fdch architekt\u00far, pri ktor\u00fdch sa d\u00e1ta \u00a0umiest\u0148uj\u00fa a procesuj\u00fa mas\u00edvne paraleln\u00fdm sp\u00f4sobom v s\u00fabore ve\u013ek\u00e9ho\u00a0 po\u010dtu \u00a0v\u00fdpo\u010dtov\u00fdch zdrojov, pri\u010dom \u00a0sa m\u00f4\u017eu \u00a0analyzova\u0165 s v\u00fdpo\u010dtovou silou, ak\u00e1 je pr\u00e1ve potrebn\u00e1. Toto rie\u0161enie pritom \u00a0m\u00f4\u017ee \u00a0podporova\u0165 aj zdie\u013eanie \u00a0a spolupr\u00e1cu na d\u00e1tov\u00fdch s\u00faboroch, otv\u00e1ra v\u0161ak z\u00e1rove\u0148 ot\u00e1zky \u00a0t\u00fdkaj\u00face sa etick\u00fdch a leg\u00e1lnych \u00a0aspektov \u0161\u00edrenia \u00a0a ochrany d\u00e1t \u00a0t\u00fdkaj\u00facich sa citliv\u00fdch medic\u00ednskych inform\u00e1ci\u00ed(6). \u00dadaje potrebn\u00e9 na vytvorenie\u00a0 vedomostnej b\u00e1zy a na posun personalizovanej medic\u00edny toti\u017e \u00a0nevy\u017eaduj\u00fa len generovanie a z\u00e1kladn\u00e9 spracovanie \u201eomick\u00fdch\u201c a zdravotn\u00fdch d\u00e1t, ale aj ich spr\u00edstupnenie aspo\u0148 pre \u0161ir\u0161iu \u00a0odborn\u00fa verejnos\u0165. Bolo v\u0161ak \u00a0na viacer\u00fdch s\u00faboroch ve\u013ek\u00fdch genomick\u00fdch projektov \u00a0dok\u00e1zan\u00e9, \u017ee s ur\u010dit\u00fdmi vedomos\u0165ami a vyhraden\u00fdm \u00fasil\u00edm \u00a0mo\u017eno re-identifikova\u0165 darcov DNA z genomick\u00fdch d\u00e1t, \u00a0aj ke\u010f boli uverejnen\u00e9 \u00a0z\u00e1kladne v anonymizovanej forme. \u00a0Je teda \u00a0viac-menej jednozna\u010dn\u00e9, \u017ee nemo\u017eno naozaj uchr\u00e1ni\u0165 identitu \u00a0genomick\u00fdch d\u00e1t a mo\u017eno k nim priradi\u0165 men\u00e1 ich darcov. \u00a0Dokonca, aj ke\u010f sa d\u00e1ta \u00a0uchov\u00e1vaj\u00fa od seba oddelene v r\u00f4znych datab\u00e1zach vo forme \u00a0\u201emeno\u201c, \u201egen\u00f3m\u201c a \u201ezdravotn\u00e9 inform\u00e1cie\u201c, pod\u013ea \u00a0uveden\u00e9ho existuje ur\u010dit\u00e1 \u00a0\u0161anca, \u017ee sa daj\u00fa\u00a0 posklada\u0165 \u00a0do pou\u017eite\u013en\u00e9ho\/zneu\u017eite\u013en\u00e9ho \u00a0trojuholn\u00edka \u201emeno\u00a0\u2013 gen\u00f3m \u2013 zdravotn\u00e9 inform\u00e1cie\u201c, ktor\u00fd u\u017e m\u00f4\u017ee \u00a0obsahova\u0165 viac inform\u00e1ci\u00ed, ne\u017e by o sebe niektor\u00ed \u013eudia chceli uverejni\u0165.<\/p>\n

Ot\u00e1zne v\u0161ak je, nako\u013eko a ak\u00fdm sp\u00f4sobom to predstavuje re\u00e1lny probl\u00e9m. Vedci z oblast\u00ed informa\u010dn\u00fdch technol\u00f3gi\u00ed poukazuj\u00fa \u00a0aj na poh\u013eady, pod\u013ea ktor\u00fdch \u00a0takto \u00a0uverejnen\u00e9 d\u00e1ta nepredstavuj\u00fa v\u00e4\u010d\u0161ie nebezpe\u010denstvo ako in\u00e9 zdroje, v ktor\u00fdch \u013eudia uverej\u0148uj\u00fa \u00a0o sebe inform\u00e1cie vlastnou dobrovo\u013enou \u010dinnos\u0165ou. Je mo\u017en\u00e9 toti\u017e r\u00f4zne \u00a0citliv\u00e9 inform\u00e1cie o \u013eu\u010foch z\u00edska\u0165 na z\u00e1klade hodnotenia likov <\/em>na Facebooku<\/em>, a to e\u0161te nehovor\u00edme o inform\u00e1ci\u00e1ch, ktor\u00e9 o sebe uverej\u0148ujeme vo forme \u00a0fotografi\u00ed, \u00a0diskusn\u00fdch koment\u00e1rov, cez na\u0161e elektronick\u00e9 \u00a0n\u00e1kupy, internetov\u00e9 prehliada\u010de, mobiln\u00e9 \u00a0aplik\u00e1cie, hry, at\u010f. Ke\u010f sa vr\u00e1time \u00a0k mo\u017enosti \u00faniku zdravotn\u00fdch d\u00e1t z genomick\u00fdch \u0161t\u00fadi\u00ed, je teda \u00a0jednozna\u010dn\u00e9, \u017ee sa im pravdepodobne ned\u00e1 \u00a0efekt\u00edvne \u00a0zabr\u00e1ni\u0165 \u00a0a zatia\u013e nevieme ani \u00faplne presne charakterizova\u0165 v\u0161etky mo\u017en\u00e9 hrozby. Je preto \u00a0d\u00f4le\u017eit\u00e9, aby boli \u00fa\u010dastn\u00edci \u0161t\u00fadi\u00ed vopred jednozna\u010dne informovan\u00ed o rizik\u00e1ch \u00a0a benefitoch \u0161t\u00fadie a aby sa im nes\u013eubovali z\u00e1le\u017eitosti o ochrane d\u00e1t, ktor\u00e9 nebude mo\u017en\u00e9 n\u00e1sledne dodr\u017ea\u0165. Pod\u013ea \u00a0viacer\u00fdch \u00a0n\u00e1zorov sa pritom probl\u00e9m ochrany d\u00e1t technologicky ani ned\u00e1 \u00a0vyrie\u0161i\u0165 dostato\u010dne efekt\u00edvne, \u00a0\u010di\u017ee jeho rie\u0161enie zost\u00e1va s najv\u00e4\u010d\u0161ou pravdepodobnos\u0165ou na pr\u00e1vno-legislat\u00edvnej \u00farovni a na \u00farovni spolo\u010dnosti a jej uvedomelosti(7). Bola by to v\u0161ak naozaj ve\u013ek\u00e1 \u0161koda, ak by tieto obavy a pr\u00edpadn\u00e9 mo\u017en\u00e9 zneu\u017e\u00edvania d\u00e1t st\u00e1li v ceste rozvoja tomu, \u010do si dnes predstavujeme pod pojmom personalizovan\u00e1 medic\u00edna.<\/p>\n

 <\/p>\n

Referencie<\/strong>
\n1. Dance A. Medical histories, Nature. 2016; 537(7619): Suppl. S52-S53
\n2. Scott AR. Read the insructions. Nature. 2016; 537(7619): Suppl. S54-S56.
\n3. Delude CM. The details of disease. Nature. 2015; 527(7576): Suppl. S14-S15.
\n4. Gravitz L. Monitoring gets personal. Nature. 2016; 538(7626): Suppl. S8-S10.
\n5. Savage N. Made to measure. Nature. 2015; 527(7576): Suppl. S12-S13
\n6. Eisenstein M. The power of petabytes, Nature. 2015; 527(7576): Suppl. S12-S13.
\n7. Savage N. The myth of anonymity. Nature. 2016; 537(7619): Suppl. S70-S72.<\/p>\n","protected":false},"excerpt":{"rendered":"

Hlavn\u00fdm \u00a0konceptom personalizovanej medic\u00edny je individu\u00e1lny n\u00e1vrh \u00a0zdravotnej starostlivosti na z\u00e1klade genetick\u00fdch predpokladov a in\u00fdch molekul\u00e1rnych prejavov konkr\u00e9tnych pacientov, ich \u017eivotn\u00e9ho \u0161t\u00fdlu\u00a0 aj prostrediu. Z\u00e1kladn\u00e1 t\u00e9za \u00a0personalizovanej medic\u00edny, \u010di\u017ee prisp\u00f4sobenie starostlivosti konkr\u00e9tnym pacientom, vlastne ani nie je nov\u00e1, ke\u010f\u017ee u\u017e prv\u00e9 zdravotn\u00e9 z\u00e1kroky boli zv\u00e4\u010d\u0161a individualizovan\u00e9 a zalo\u017een\u00e9 na \u00a0najlep\u0161\u00edch vedomostiach lie\u010dite\u013eov. \u00a0Probl\u00e9mom v\u0161ak \u00a0bolo,<\/p>\n","protected":false},"author":7,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_mi_skip_tracking":false,"footnotes":""},"categories":[287],"tags":[],"class_list":["post-1158","post","type-post","status-publish","format-standard","hentry","category-uncategorized","typ_clanku-news"],"acf":{"abstrakt":"

As you are looking at the first part of our new featured section titled News, opinions and views<\/em>, for the start let me briefly characterise its goals and objectives. They do not lie in describing the latest and fresh knowledge obtained through scientific work of authors nor do they lie in detailed summary of the majority of currently available data on a selected topic in the shape of overview articles. What we want to promote here is our effort to stimulate interest and debate on selected topics that are currently resonating in professional and scientific literature. To this end, we adjusted the length of contributions which we will strive to keep in a \u2018digestible\u2019 extent of one or maximum two pages. Within the context of overall focus of our magazine, we could not choose any other opening topic than personalised medicine We will attempt to refer to articles written in a style typical for popular science just in case the given topic caught the interest of also those readers, who may wish to learn more about the given themes but they do not plan spending days and weeks studying hard scientific literature.<\/p>\n","casopis":[{"ID":735,"post_author":"7","post_date":"2017-04-06 13:21:01","post_date_gmt":"2017-04-06 11:21:01","post_content":"