Medicinos ateitis – genetika

Medicinos ateitis – genetika

Onkologinės ligos šiuo metu pirmauja tarp neinfekcinių patologijų. Gera žinia, kad šiandienis mokslas, technologijos, medikamentai leidžia ir anksti nustatyti onkologinę ligą, ir veiksmingiau ją gydyti. Kiekvienas navikas pasižymi unikaliu DNR mutacijų profiliu. Tai žinant, galima ne tik laiku pradėti gydymą, bet ir parinkti efektyviausią medikamentą, prognozuoti ligos eigą, kontroliuoti komplikacijų vystymąsi. Taip skelbia teorija. O kaip yra praktiškai?

Koks šiandien genetinių tyrimų vaidmuo diagnozuojant, gydant onkologines ligas? Su kokiomis problemomis ir iššūkiais susiduria gydytojai genetikai?

Apie tai kalbamės su redakcijos viešnia Nacionalinio vėžio instituto (NVI) direktoriaus pavaduotoja mokslui ir plėtrai genetike prof. dr. Sonata Jarmalaite.

 

 

Gerbiama profesore, kaip galėtumėte apibūdinti genetinių tyrimų svarbą ir vaidmenį diagnozuojant vėžį, gydant, stebint sergančiuosius?

 

 

Praeito šimtmečio pabaigoje atradus pirmuosius vėžio genus ir susiformavus šiuolaikinei kancerogenezės teorijai, genetika tapo neatskiriama vėžio diagnostikos ir gydymo dalis. Šiuolaikinis individualizuotas požiūris į vėžį skatina navikus skirstyti ne tik pagal lokalizaciją, stadiją ar diferenciacijos laipsnį. Daugelis navikų subtipuojami pagal molekulinį profilį, o tik tada parenkama tinkamiausia gydymo strategija. Šiuolaikiniuose onkologijos centruose, be klinikinių skyrių, būtinai veikia molekulinių, genetinių tyrimų laboratorijos.

NVI Vėžio žymenų laboratorija kasdien tiria dešimčių pacientų kraują. Taikant imunofermentinius metodus, pacientų kraujyje matuojama vėžiui specifinių baltymų koncentracija. Tokie žymenys, kaip CEA, PSA, Ca 125, Ca 15-3 ir kiti, yra svarbūs pirminei diagnozei nustatyti, ligos išplitimui įvertinti ir atliekant ilgalaikę onkologinių ligonių stebėseną. NVI Genetinės diagnostikos laboratorijoje navikiniuose mėginiuose tiriamos genų mutacijos. Tik atlikus šį tyrimą ir aptikus genų mutaciją, rodančią jautrumą specifiniam prieš mutavusį baltymą nukreiptam vaistui, skiriamas atitinkamas gydymas. NVI naujausiais standartizuotais metodais atliekami visų Lietuvoje registruotų antivėžinių taikininių vaistų taikinių tyrimai.

NVI Genetinės diagnostikos laboratorijoje galime atlikti kraujyje cirkuliuojančios vėžio DNR tyrimus, kurie padeda vykdant ligos eigos stebėseną. Šie tyrimai įspėja apie ligos progresavimo riziką gerokai anksčiau nei kiti tyrimo metodai. Tokius tyrimus gali pasiūlyti tik žinomiausi Europos onkologijos centrai. Esant poreikiui, naujos kartos sekoskaitos metodu galime ištirti plačiausią vėžio genų paletę. Šie tyrimai padeda patikslinti retų navikų diagnozę, identifikuoti naviko kilmę neaptikus pirminio naviko, prognozuoti atsaką į gydymą.

Iki šiol tokius tyrimus komerciniais pagrindais siūlė užsienio centrai, bet pagal genetinių technologijų pažangą Lietuva tikrai neatsilieka nuo jų ir išsamius genetinius tyrimus gali atlikti operatyviau ir pigiau. Be to, vietinių specialistų, tiesiogiai bendraujančių su ligoniu, konsultacija daug vertingesnė nei formalus raštiškas atsakymas, ateinantis iš užsienio.

NVI Konsultacijų poliklinikoje dirba gydytoja genetikė, kuri konsultuoja šeiminį polinkį vėžiui turinčius pacientus. Jei gydytoja genetikė nustato didelę šeiminio vėžio sindromo riziką, atliekame genetinį tyrimą, kuris patvirtina arba paneigia gydytojos spėjimus. Per 4 Genetinės diagnostikos laboratorijos veiklos mėnesius nustatėme 20 BRCA geno mutacijų nešiotojų, bet dar daugiau konsultuotų pacientų nuraminome ir paneigdami, kad jiems gresia šeiminio vėžio rizika.

 

 

Kuo NVI genetikos laboratorija išsiskiria iš kitų Lietuvoje dirbančių genetikos laboratorijų?

 

 

Panašios genetikos laboratorijos veikia daugumoje didžiųjų Lietuvos ligoninių, nesame išskirtiniai. Tačiau dėl mūsų ligonių stengiamės įsidiegti kuo platesnį tiriamų vėžio žymenų spektrą, tyrimus vykdome naudodami patikimus standartizuotus testus, naujausią šiuolaikinių tyrimų įrangą.

Pagal turimą įrangą ir taikomas technologijas neatsiliekame nuo geriausių Europos centrų, tad siekiame įsijungti į Europinius referentinių laboratorijų tinklus. Šiek tiek nustebome, kad naujos kartos technologijomis net pralenkėme kolegas, tad turime luktelėti, kol Europoje susiformuos naujos kartos sekoskaitą vėžio diagnostikoje taikančių laboratorijų tinklas.

NVI – tai ne tik specializuota onkologinė ligoninė, bet ir mokslinių tyrimų institutas. Mokslinės laboratorijos atlieka taikomuosius tyrimus, kurie diegiami į kliniką. Garsėjame savo laimėjimais inovatyvių vėžio vaizdinimo, nanotechnologijų ir molekulinių technologijų srityse. Šie inovatyvūs metodai biomedicininių tyrimų kontekste gali būti naudingi nustatant ligos agresyvumą, padėti parinkti tinkamą gydymą ar anksti numatyti ligos progresavimą. Turime visą paletę šlapime ar kraujyje nustatomų genetinių vėžio žymenų, kurių klinikinį reikšmingumą siekiame patvirtinti atlikdami bendrus tyrimus kartu su kolegomis Europos klinikiniuose centruose ir siekiame įdiegti į kliniką. Taikome skystosios biopsijos metodą mėginiui surinkti ir ligonių kraujyje ar šlapime tiriame vėžiui būdingus genetinius pakitimus. Šis inovatyvus tyrimo būdas suteikia tą pačią ar dar tikslesnę informaciją kaip ir audinio biopsinės medžiagos tyrimai, tik skystoji biopsija yra neinvazinė, neskausminga ir labai reikalinga atliekant ilgalaikę ligonio stebėseną.

Aktyviai dalyvaujame įgyvendinant vėžio kontrolės programą, rengiame mokslinius straipsnius, edukuojame specialistus ir visuomenę, skleidžiame žinias apie genetinių tyrimų naudą.

 

 

Galbūt reikėtų paminėti, pristatyti šios laboratorijos kolektyvą?

 

 

Daugelį metų dėstau Vilniaus universitete. Mano akyse užaugo nauja genetikų karta, drąsiai taikanti šiuolaikines visuminės analizės technologijas. Mėgstu dirbti su jaunimu, skatinu juos plėsti žinias, kompetencijas, nebijoti keisti aplinką, tyrimų sritį. Mokslininkas privalo išvykti stažuotis į užsienį, susipažinti su tyrimų ypatumais kitose šalyse, išbandyti save naujoje aplinkoje, o tuomet su naujomis idėjomis ir patirtimi tęsti mokslinį darbą savo šalyje. Mokslininkas turi būti mobilus, kūrybingas, atviras naujoms idėjoms.

Į NVI Genetinės diagnostikos laboratoriją pasikviečiau dirbti savo buvusius studentus. Laboratorijai vadovauja dr. Rasa Sabaliauskaitė. Kažkada jos disertacinio darbo kontekste pirmieji Lietuvoje pradėjome tirti mutacijų spektrą prostatos navikuose. Nustatėme sulietinio transkripto TMPRSS2-ERG dažnį Lietuvos sergančiųjų prostatos vėžiu imtyje, o dabar specifiniai vaistai, nukreipti prieš šį transkriptą, pereina klinikinių tyrimų etapą ir galbūt netrukus bus taikomi vėžiui gydyti. Dr. R. Sabaliauskaitė su jaunu tyrėjų kolektyvu per labai trumpą laiką įdiegė laboratorijoje naujausias technologijas, o dabar toliau plečia tiriamų vėžio genų paletę.

Genetinės diagnostikos laboratorijoje visas būrys studentų atlieka praktiką. Galbūt ir jie rinksis šią taikomosios genetikos sritį. Taikomasis mokslas žavus tuo, kad kasdien leidžia matyti savo darbo rezultatus – patikslintą diagnozę, laiku ir tinkamai pradėtą gydymą, nustatytą ligos išplitimo grėsmę. Lietuvoje genetikas onkologinėje ligoninėje gana naujas reiškinys. Mokomės viena kalba kalbėti su daktarais, edukuojame ligonius, visuomenę.

 

Greičiausiai esama ir problemų, su kuriomis susiduriama diegiant genetinius tyrimus į kliniką?

 

Lietuva garsėja technologijų pažanga, investicijomis į mokslą. Turime visas galimybes – specialistus, įrangą – Lietuvoje taikyti pažangiausias vėžio diagnostikos ir gydymo priemones. Tačiau dėl nepakankamų investicijų į sveikatos apsaugą ir dėl prioritetų specifikos onkologiniams ligoniams negalime pasiūlyti tokio gydymo, kokį galima gauti geriausiuose Europos onkologiniuose centruose. Susidaro labai keista padėtis – mūsų mokslininkai svariai prisideda prie naujausių technologijų kūrimo, naujų diagnostinių ir terapinių taikinių atradimo, bet vėliau išplėtotą ir komercializuotą produktą turime pirkti iš kitų šalių.

Stipriausios Europos šalys laikosi nuoseklios politikos – ne tik investuoja į mokslo pažangą, bet ir padeda naujas technologijas įdiegti į praktiką, remia naujų eksperimentinių vaistų tyrimus. Liūdna, kad, nustatę naviko genetines mutacijas, laiku negalime pasiūlyti tinkamiausio vaisto, nes jis visai neregistruotas Lietuvoje arba skiriamas tik išplitusiai ligai gydyti. Tenka laukti, kol liga išplis, ir tik tada pradėti tinkamiausią šiuolaikinį gydymą. Turime visas galimybes ištirti plačiausią vėžio žymenų spektrą, bet šių tyrimų niekas nekompensuoja, ligoninė turi dengti šiuos tyrimus savo lėšomis, užuot gerinusi infrastruktūrą ar didinusi medicinos darbuotojų atlyginimą.

Susiduriame su daugeliu problemų, bet norėtųsi baigti pozityviai. Europos medicinos onkologų kongrese pristatinėdamas naujausias vėžio diagnostikos galimybes lektorius pasidomėjo, kiek šalių taiko genetinę diagnostiką praktikoje. Pakilo 5 rankos, tarp jų buvo ir mūsų atstovų iš Lietuvos. Vėžio diagnostikoje žengiame koja kojon su stipriausiomis Europos šalimis, turime puikius specialistus, išplėtę gydymo priemonių diapazoną, galėtume sėkmingiau kontroliuoti ligos eigą, pailginti onkologinių ligonių išgyvenimo trukmę.

 

Dėkojame už pokalbį.

Kalbėjosi Natalija Voronaja


345 mintys apie “Medicinos ateitis – genetika

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