{"id":651,"date":"2022-10-12T16:38:15","date_gmt":"2022-10-12T15:38:15","guid":{"rendered":"https:\/\/bnssghealthiertogether.org.uk\/?p=651"},"modified":"2022-12-08T10:52:41","modified_gmt":"2022-12-08T10:52:41","slug":"world-first-national-genetic-testing-service-launched-by-nhs","status":"publish","type":"post","link":"https:\/\/bnssghealthiertogether.org.uk\/sq\/news\/world-first-national-genetic-testing-service-launched-by-nhs\/","title":{"rendered":"Sh\u00ebrbimi i par\u00eb Komb\u00ebtar i Testimit Gjenetik n\u00eb bot\u00eb u lan\u00e7ua nga NHS"},"content":{"rendered":"
Seksioni me titull module-1<\/span><\/a>
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Sh\u00ebrbimi i par\u00eb Komb\u00ebtar i Testimit Gjenetik n\u00eb bot\u00eb u lan\u00e7ua nga NHS<\/h1>\n

12 tetor 2022<\/p>\n

Nj\u00eb sh\u00ebrbim komb\u00ebtar i testimit gjenetik \u00ebsht\u00eb lan\u00e7uar sot (12 tetor 2022) nga NHS.<\/p>\n

Sh\u00ebrbimi i par\u00eb komb\u00ebtar i testimit gjenetik n\u00eb bot\u00eb do t\u00eb jet\u00eb n\u00eb gjendje t\u00eb diagnostikoj\u00eb brenda disa dit\u00ebsh n\u00eb vend t\u00eb muajve, dhe potencialisht t\u00eb shp\u00ebtoj\u00eb mij\u00ebra f\u00ebmij\u00eb dhe foshnje t\u00eb s\u00ebmura r\u00ebnd\u00eb.<\/p>\n

Sh\u00ebrbimi i ri, me seli n\u00eb Devon, do t\u00eb p\u00ebrpunoj\u00eb me shpejt\u00ebsi mostrat e ADN-s\u00eb t\u00eb foshnjave dhe f\u00ebmij\u00ebve q\u00eb jan\u00eb t\u00eb s\u00ebmur\u00eb r\u00ebnd\u00eb ose t\u00eb lindur me nj\u00eb s\u00ebmundje t\u00eb rrall\u00eb si\u00e7 \u00ebsht\u00eb kanceri.<\/p>\n

Do t\u00eb p\u00ebrfitojn\u00eb m\u00eb shum\u00eb se 1,000 f\u00ebmij\u00eb t\u00eb vegj\u00ebl n\u00eb kujdes intensiv \u00e7do vit, t\u00eb cil\u00ebt deri m\u00eb tani \u00ebsht\u00eb dashur t'i n\u00ebnshtrohen niveleve t\u00eb gjera t\u00eb testeve, me rezultate q\u00eb shpesh duhen jav\u00eb p\u00ebr t'u shfaqur.<\/p>\n

Tani, ata do t\u00eb jen\u00eb n\u00eb gjendje t\u00eb b\u00ebjn\u00eb analiza t\u00eb thjeshta gjaku dhe, sapo t\u00eb p\u00ebrpunohen, sh\u00ebrbimi do t'u jap\u00eb ekipeve mjek\u00ebsore nga e gjith\u00eb vendi rezultatet brenda disa dit\u00ebsh - q\u00eb do t\u00eb thot\u00eb se ata mund t\u00eb fillojn\u00eb plane trajtimi shp\u00ebtuese p\u00ebr m\u00eb shum\u00eb se 6,000 s\u00ebmundje gjenetike.<\/p>\n

Amanda Pritchard, Drejtoresha Ekzekutive e NHS-s\u00eb, tha:<\/p>\n

\u201cKy rast i par\u00eb global \u00ebsht\u00eb nj\u00eb moment i jasht\u00ebzakonsh\u00ebm p\u00ebr NHS-n\u00eb dhe do t\u00eb jet\u00eb revolucionar n\u00eb ndihm\u00ebn ton\u00eb p\u00ebr t\u00eb diagnostikuar me shpejt\u00ebsi s\u00ebmundjet e mij\u00ebra f\u00ebmij\u00ebve dhe foshnjave t\u00eb s\u00ebmura r\u00ebnd\u00eb \u2014 duke shp\u00ebtuar jet\u00eb t\u00eb panum\u00ebrta n\u00eb vitet q\u00eb vijn\u00eb.\u201d.<\/p>\n

\u201c"Kam par\u00eb se si k\u00ebto analiza t\u00eb thjeshta gjaku mund t\u00eb ndryshojn\u00eb jet\u00ebn e foshnjave dhe familjeve t\u00eb tyre dhe t\u00eb qenit n\u00eb gjendje ta zgjerojm\u00eb k\u00ebt\u00eb m\u00eb tej \u00ebsht\u00eb e mrekullueshme p\u00ebr f\u00ebmij\u00ebt dhe familjet e tyre.".<\/p>\n

\u201cKur nj\u00eb f\u00ebmij\u00eb vjen n\u00eb kujdes intensiv, koha \u00ebsht\u00eb gjith\u00e7ka, k\u00ebshtu q\u00eb gjetja e diagnoz\u00ebs dhe trajtimit t\u00eb duhur sa m\u00eb shpejt t\u00eb jet\u00eb e mundur \u00ebsht\u00eb absolutisht jetike, dhe jam i k\u00ebnaqur q\u00eb puna pioniere e Sh\u00ebrbimit t\u00eb Mjek\u00ebsis\u00eb Gjenomike t\u00eb NHS-s\u00eb po transformon m\u00ebnyr\u00ebn se si diagnostikojm\u00eb dhe trajtojm\u00eb pacient\u00ebt n\u00eb Angli.\u2019.<\/p>\n

\u201cNHS njihet n\u00eb mbar\u00eb bot\u00ebn si nj\u00eb lider bot\u00ebror n\u00eb gjenomik\u00eb, dhe ky sh\u00ebrbim i ri e v\u00ebrteton pik\u00ebrisht k\u00ebt\u00eb - ai gjithashtu mb\u00ebshtetet n\u00eb angazhimin ton\u00eb t\u00eb Planit Afatgjat\u00eb p\u00ebr t\u00eb ofruar sh\u00ebrbimet m\u00eb t\u00eb p\u00ebrparuara mjek\u00ebsore t\u00eb mundshme p\u00ebr t\u00eb gjith\u00eb pacient\u00ebt tan\u00eb - duke rritur shanset e jet\u00ebs s\u00eb mij\u00ebra njer\u00ebzve n\u00eb t\u00eb gjith\u00eb vendin.\u201d<\/p><\/blockquote>\n

Sekuencimi i t\u00eb gjith\u00eb gjenomit funksionon duke k\u00ebrkuar ndryshime n\u00eb gjenet n\u00eb ADN-n\u00eb e f\u00ebmij\u00ebs s\u00eb s\u00ebmur\u00eb r\u00ebnd\u00eb. Kjo mund t\u00eb ndihmoj\u00eb n\u00eb p\u00ebrcaktimin e shpejt\u00eb t\u00eb nj\u00eb diagnoze, duke hapur mund\u00ebsin\u00eb q\u00eb mij\u00ebra pacient\u00eb t\u00eb tjer\u00eb t\u00eb sh\u00ebrohen plot\u00ebsisht.<\/p>\n

Pacient\u00eb t\u00eb tjer\u00eb me s\u00ebmundje m\u00eb komplekse do t\u00eb ken\u00eb shansin m\u00eb t\u00eb mir\u00eb t\u00eb mundsh\u00ebm p\u00ebr t\u00eb zvog\u00ebluar nd\u00ebrlikimet e v\u00ebshtira m\u00eb shpejt, duke rritur cil\u00ebsin\u00eb e jet\u00ebs s\u00eb tyre.<\/p>\n

Reubeni shtat\u00ebmuajsh, nga Cheltenham, Gloucester, u shp\u00ebtua nga sh\u00ebrbimi nd\u00ebrsa ai po testohej n\u00eb mars, p\u00ebrpara se t\u00eb ofrohej n\u00eb t\u00eb gjith\u00eb vendin.<\/p>\n

Reubeni, pes\u00eb dit\u00ebsh, po luftonte p\u00ebr jet\u00ebn n\u00eb Spitalin Mbret\u00ebror t\u00eb F\u00ebmij\u00ebve n\u00eb Bristol, pasi ishte shtruar me t\u00eb vjella dhe letargji. Atje, mjek\u00ebt luftuan p\u00ebr t\u00eb filtruar nivelet potencialisht vdekjeprur\u00ebse t\u00eb amoniakut q\u00eb ishin zbuluar n\u00eb gjakun e tij.<\/p>\n

Babai Atsushi, 39 vje\u00e7, tha:<\/p>\n

\u201cKur mjeku doli dhe na tha se po b\u00ebnin gjith\u00e7ka q\u00eb mund ta mbanin gjall\u00eb, na u b\u00eb e qart\u00eb se me \u00e7far\u00eb po p\u00ebrballeshim.<\/p>\n

\u201c"E pam\u00eb t\u00eb lidhur me 20, 30 tuba dhe ishte v\u00ebrtet e v\u00ebshtir\u00eb p\u00ebr ta par\u00eb."\u201d<\/p><\/blockquote>\n

Mjek\u00ebt dyshuan p\u00ebr \u00e7rregullim t\u00eb ciklit t\u00eb ures\u00eb, por testet nuk dhan\u00eb rezultate p\u00ebrfundimtare. Por fal\u00eb prov\u00ebs s\u00eb sh\u00ebrbimit t\u00eb shpejt\u00eb t\u00eb sekuencimit t\u00eb t\u00eb gjith\u00eb gjenomit, gjaku i tij mund t\u00eb testohej n\u00eb vend t\u00eb nj\u00eb biopsie invazive dhe potencialisht t\u00eb rrezikshme t\u00eb m\u00ebl\u00e7is\u00eb.<\/p>\n

U gjet\u00ebn ndryshime gjenetike n\u00eb gjenin CSP1, q\u00eb do t\u00eb thot\u00eb se trupi i tij nuk mund ta zb\u00ebrthente azotin, gj\u00eb q\u00eb nga ana tjet\u00ebr shkaktonte nivele toksike t\u00eb amoniakut n\u00eb gjak.<\/p>\n

Reubenit iu dha shpejt ila\u00e7i i duhur, pa t\u00eb cilin ai mund t\u00eb kishte vdekur. Pas dy muajsh e gjysm\u00eb n\u00eb spital, ai u lirua nga spitali dhe tani \u00ebsht\u00eb mir\u00eb dhe pret nj\u00eb transplant m\u00ebl\u00e7ie q\u00eb do ta kuroj\u00eb gjendjen e tij.<\/p>\n

Mamaja Eleanor, 38 vje\u00e7, tha:<\/p>\n

\u201cI gjith\u00eb kujdesi q\u00eb mori Reubeni nuk do t\u00eb kishte ndodhur aq shpejt dhe diagnoza e tij e hershme n\u00ebnkuptonte se dinim \u00e7far\u00eb t\u00eb prisnim.\u201d.<\/p>\n

\u201c"Jemi shum\u00eb mir\u00ebnjoh\u00ebs p\u00ebr gjith\u00e7ka q\u00eb NHS ka b\u00ebr\u00eb p\u00ebr t\u00eb mund\u00ebsuar q\u00eb kjo t\u00eb ndodh\u00eb dhe p\u00ebr testimet e jasht\u00ebzakonshme gjenomike q\u00eb kemi b\u00ebr\u00eb."\u201d<\/p><\/blockquote>\n

Atsushi shtoi:<\/p>\n

\u201c"Jemi mir\u00ebnjoh\u00ebs q\u00eb pavar\u00ebsisht koh\u00ebrave t\u00eb v\u00ebshtira, nuk u ndjem\u00eb kurr\u00eb vet\u00ebm dhe e dinim se i kishim ekipet e NHS me ne n\u00eb \u00e7do hap dhe tani e shohim t\u00eb ardhmen me shpres\u00eb."\u201d<\/p><\/blockquote>\n

Nj\u00eb n\u00eb 17 persona n\u00eb Angli do t\u00eb zhvilloj\u00eb nj\u00eb s\u00ebmundje t\u00eb rrall\u00eb gjat\u00eb jet\u00ebs s\u00eb tyre dhe m\u00eb shum\u00eb se 80% prej tyre jan\u00eb me origjin\u00eb gjenetike.<\/p>\n

Rreth tre t\u00eb kat\u00ebrtat e \u00e7rregullimeve t\u00eb rralla gjenetike do t\u00eb shfaqen gjat\u00eb f\u00ebmij\u00ebris\u00eb dhe jan\u00eb p\u00ebrgjegj\u00ebse p\u00ebr pothuajse nj\u00eb t\u00eb tret\u00ebn e vdekjeve neonatale n\u00eb kujdes intensiv.<\/p>\n

N\u00eb vitin 2021, NHS u b\u00eb sistemi i par\u00eb komb\u00ebtar i kujdesit sh\u00ebndet\u00ebsor n\u00eb bot\u00eb q\u00eb filloi t\u00eb ofroj\u00eb n\u00eb m\u00ebnyr\u00eb rutinore sekuencimin e t\u00eb gjith\u00eb gjenomit p\u00ebr f\u00ebmij\u00ebt dhe disa t\u00eb rritur me lloje t\u00eb caktuara t\u00eb kancerit.<\/p>\n

Kjo ka \u00e7uar n\u00eb lan\u00e7imin sot t\u00eb Sh\u00ebrbimit Komb\u00ebtar t\u00eb Sekuencimit t\u00eb Shpejt\u00eb t\u00eb Gjenomit t\u00eb Gjith\u00eb, me seli n\u00eb Qendr\u00ebn e Laboratorit Gjenomik t\u00eb NHS-s\u00eb Jugper\u00ebndimore n\u00eb Fondacionin e Kujdesit Sh\u00ebndet\u00ebsor t\u00eb Universitetit Mbret\u00ebror Devon.<\/p>\n

Sh\u00ebrbimi inovativ me seli n\u00eb Exeter, i lan\u00e7uar si pjes\u00eb e Strategjis\u00eb s\u00eb Gjenomik\u00ebs s\u00eb NHS-s\u00eb n\u00eb Samitin e par\u00eb t\u00eb Kujdesit Sh\u00ebndet\u00ebsor t\u00eb Gjenomik\u00ebs n\u00eb Lond\u00ebr, \u00ebsht\u00eb nj\u00eb tjet\u00ebr shembull i NHS-s\u00eb q\u00eb udh\u00ebheq bot\u00ebn n\u00eb shfryt\u00ebzimin e potencialit t\u00eb mjek\u00ebsis\u00eb gjenomike p\u00ebr t\u00eb transformuar kujdesin ndaj pacientit.<\/p>\n

 <\/p>\n <\/div>\r\n

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Ndani:<\/p>

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Sh\u00ebrbimi i par\u00eb komb\u00ebtar i testimit gjenetik n\u00eb bot\u00eb do t\u00eb jet\u00eb n\u00eb gjendje t\u00eb diagnostikoj\u00eb brenda disa dit\u00ebsh n\u00eb vend t\u00eb muajve, dhe potencialisht t\u00eb shp\u00ebtoj\u00eb mij\u00ebra f\u00ebmij\u00eb dhe foshnje t\u00eb s\u00ebmura r\u00ebnd\u00eb.<\/p>","protected":false},"author":7,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[23],"tags":[],"class_list":["post-651","post","type-post","status-publish","format-standard","hentry","category-health-services"],"acf":[],"_links":{"self":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/posts\/651","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/comments?post=651"}],"version-history":[{"count":4,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/posts\/651\/revisions"}],"predecessor-version":[{"id":3723,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/posts\/651\/revisions\/3723"}],"wp:attachment":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/media?parent=651"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/categories?post=651"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/sq\/wp-json\/wp\/v2\/tags?post=651"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}