{"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\/tr\/news\/world-first-national-genetic-testing-service-launched-by-nhs\/","title":{"rendered":"NHS taraf\u0131ndan d\u00fcnyada bir ilk olan Ulusal Genetik Test Hizmeti ba\u015flat\u0131ld\u0131."},"content":{"rendered":"
Mod\u00fcl-1 ba\u015fl\u0131kl\u0131 b\u00f6l\u00fcm<\/span><\/a>
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NHS taraf\u0131ndan d\u00fcnyada bir ilk olan Ulusal Genetik Test Hizmeti ba\u015flat\u0131ld\u0131.<\/h1>\n

12 Ekim 2022<\/p>\n

NHS taraf\u0131ndan bug\u00fcn (12 Ekim 2022) ulusal genetik test hizmeti ba\u015flat\u0131ld\u0131.<\/p>\n

D\u00fcnyada bir ilk olan ulusal genetik test hizmeti, aylar yerine g\u00fcnler i\u00e7inde te\u015fhis koyabilecek ve potansiyel olarak binlerce a\u011f\u0131r hasta \u00e7ocuk ve bebe\u011fin hayat\u0131n\u0131 kurtarabilecek.<\/p>\n

Devon merkezli yeni hizmet, ciddi \u015fekilde hasta olan veya kanser gibi nadir bir hastal\u0131kla do\u011fan bebeklerin ve \u00e7ocuklar\u0131n DNA \u00f6rneklerini h\u0131zla i\u015fleyecek.<\/p>\n

Bu sayede her y\u0131l yo\u011fun bak\u0131mda bulunan ve bug\u00fcne kadar kapsaml\u0131 testlerden ge\u00e7mek zorunda kalan, sonu\u00e7lar\u0131n gelmesi haftalar s\u00fcren 1000'den fazla k\u00fc\u00e7\u00fck \u00e7ocuk fayda g\u00f6recek.<\/p>\n

Art\u0131k basit kan testleri yapt\u0131rabilecekler ve test sonu\u00e7lar\u0131 i\u015flendikten sonra, hizmet \u00fclke genelindeki sa\u011fl\u0131k ekiplerine birka\u00e7 g\u00fcn i\u00e7inde sonu\u00e7lar\u0131 ula\u015ft\u0131racak; bu da 6.000'den fazla genetik hastal\u0131k i\u00e7in hayat kurtar\u0131c\u0131 tedavi planlar\u0131n\u0131n ba\u015flat\u0131lmas\u0131 anlam\u0131na geliyor.<\/p>\n

NHS \u0130cra Kurulu Ba\u015fkan\u0131 Amanda Pritchard \u015funlar\u0131 s\u00f6yledi:<\/p>\n

\u201c"Bu k\u00fcresel ilk, NHS i\u00e7in inan\u0131lmaz bir an ve \u00f6n\u00fcm\u00fczdeki y\u0131llarda binlerce a\u011f\u0131r hasta \u00e7ocuk ve bebe\u011fin hastal\u0131klar\u0131n\u0131 h\u0131zla te\u015fhis etmemize yard\u0131mc\u0131 olarak say\u0131s\u0131z hayat kurtarmada devrim niteli\u011finde olacak.".<\/p>\n

\u201c"Bu basit kan testlerinin bebeklerin ve ailelerinin hayatlar\u0131n\u0131 nas\u0131l de\u011fi\u015ftirebildi\u011fini g\u00f6rd\u00fcm ve bunu daha da geni\u015fletebilmek \u00e7ocuklar ve aileleri i\u00e7in harika bir \u015fey.".<\/p>\n

\u201c"Bir \u00e7ocuk yo\u011fun bak\u0131ma al\u0131nd\u0131\u011f\u0131nda zamanlama her \u015feydir, bu nedenle do\u011fru te\u015fhis ve tedaviyi m\u00fcmk\u00fcn olan en k\u0131sa s\u00fcrede bulmak kesinlikle hayati \u00f6nem ta\u015f\u0131r ve NHS'nin Genomik T\u0131p Hizmetinin \u00f6nc\u00fc \u00e7al\u0131\u015fmalar\u0131n\u0131n \u0130ngiltere'deki hastalar\u0131 te\u015fhis etme ve tedavi etme \u015feklimizi d\u00f6n\u00fc\u015ft\u00fcrmesinden dolay\u0131 \u00e7ok mutluyum.".<\/p>\n

\u201cNHS, genomik alan\u0131nda d\u00fcnya lideri olarak d\u00fcnya \u00e7ap\u0131nda tan\u0131nmaktad\u0131r ve bu yeni hizmet de bunu kan\u0131tlamaktad\u0131r; ayr\u0131ca, t\u00fcm hastalar\u0131m\u0131z i\u00e7in m\u00fcmk\u00fcn olan en geli\u015fmi\u015f t\u0131bbi hizmetleri sunma konusundaki Uzun Vadeli Plan taahh\u00fcd\u00fcm\u00fcz\u00fc de g\u00fc\u00e7lendirerek \u00fclke genelinde binlerce insan\u0131n ya\u015fam \u015fans\u0131n\u0131 art\u0131rmaktad\u0131r.\u201d<\/p><\/blockquote>\n

T\u00fcm genom dizileme, ciddi \u015fekilde hasta olan \u00e7ocu\u011fun DNA's\u0131ndaki genlerdeki de\u011fi\u015fiklikleri arayarak \u00e7al\u0131\u015f\u0131r. Bu, te\u015fhisin h\u0131zl\u0131 bir \u015fekilde belirlenmesine yard\u0131mc\u0131 olabilir ve binlerce hastan\u0131n daha rahats\u0131zl\u0131klar\u0131n\u0131n tamamen iyile\u015ftirilmesi olas\u0131l\u0131\u011f\u0131n\u0131 ortaya \u00e7\u0131karabilir.<\/p>\n

Daha karma\u015f\u0131k hastal\u0131klara sahip di\u011fer hastalar, zorlu komplikasyonlar\u0131 daha erken azaltma ve ya\u015fam kalitelerini art\u0131rma konusunda en iyi \u015fansa sahip olacaklard\u0131r.<\/p>\n

Gloucester'\u0131n Cheltenham b\u00f6lgesinden yedi ayl\u0131k Reuben, Mart ay\u0131nda \u00fclke \u00e7ap\u0131nda sunulmadan \u00f6nce deneme a\u015famas\u0131nda olan bu hizmet sayesinde kurtar\u0131ld\u0131.<\/p>\n

Be\u015f g\u00fcnl\u00fck Reuben, kusma ve halsizlik \u015fikayetleriyle Bristol Kraliyet \u00c7ocuk Hastanesi'ne kald\u0131r\u0131ld\u0131ktan sonra ya\u015fam m\u00fccadelesi veriyordu. Doktorlar burada, kan\u0131nda tespit edilen ve potansiyel olarak \u00f6l\u00fcmc\u00fcl seviyede olan amonya\u011f\u0131 filtrelemek i\u00e7in yo\u011fun \u00e7aba sarf ettiler.<\/p>\n

39 ya\u015f\u0131ndaki Baba Atsushi \u015funlar\u0131 s\u00f6yledi:<\/p>\n

\u201c"Doktor d\u0131\u015far\u0131 \u00e7\u0131k\u0131p onu hayatta tutmak i\u00e7in ellerinden gelen her \u015feyi yapt\u0131klar\u0131n\u0131 s\u00f6yledi\u011finde, kar\u015f\u0131 kar\u015f\u0131ya oldu\u011fumuz durumun ciddiyetini ger\u00e7ekten anlad\u0131k.".<\/p>\n

\u201c"Onu 20, 30 t\u00fcpe ba\u011fl\u0131 halde g\u00f6rd\u00fck ve bunu g\u00f6rmek ger\u00e7ekten \u00e7ok zordu."\u201d<\/p><\/blockquote>\n

Doktorlar \u00fcre d\u00f6ng\u00fcs\u00fc bozuklu\u011fundan \u015f\u00fcphelenmi\u015fti, ancak testler kesin sonu\u00e7 vermemi\u015fti. Fakat h\u0131zl\u0131 t\u00fcm genom dizileme hizmetinin denemesi sayesinde, invaziv ve potansiyel olarak tehlikeli bir karaci\u011fer biyopsisi yerine kan\u0131 test edilebildi.<\/p>\n

CSP1 geninde genetik de\u011fi\u015fiklikler tespit edildi; bu da v\u00fccudunun nitrojeni par\u00e7alayamamas\u0131 ve bunun sonucunda kanda toksik d\u00fczeyde amonyak olu\u015fmas\u0131 anlam\u0131na geliyordu.<\/p>\n

Reuben'e do\u011fru ila\u00e7 h\u0131zla verildi, aksi takdirde \u00f6lebilirdi. \u0130ki bu\u00e7uk ay hastanede kald\u0131ktan sonra taburcu edildi ve \u015fu anda durumu iyi ve hastal\u0131\u011f\u0131n\u0131 iyile\u015ftirecek bir karaci\u011fer nakli bekliyor.<\/p>\n

38 ya\u015f\u0131ndaki anne Eleanor \u015funlar\u0131 s\u00f6yledi:<\/p>\n

\u201cReuben\u2019\u0131n ald\u0131\u011f\u0131 t\u00fcm bak\u0131m bu kadar h\u0131zl\u0131 ger\u00e7ekle\u015femezdi ve erken te\u015fhis sayesinde ne beklememiz gerekti\u011fini biliyorduk.<\/p>\n

\u201c"Bunun ger\u00e7ekle\u015fmesini sa\u011flayan NHS'ye ve ge\u00e7irdi\u011fimiz inan\u0131lmaz genomik testlere minnettar\u0131z."\u201d<\/p><\/blockquote>\n

Atsushi \u015funlar\u0131 ekledi:<\/p>\n

\u201c"Zor zamanlara ra\u011fmen kendimizi asla yaln\u0131z hissetmedi\u011fimiz ve her ad\u0131mda NHS ekiplerinin yan\u0131m\u0131zda oldu\u011funu bildi\u011fimiz i\u00e7in minnettar\u0131z ve \u015fimdi gelece\u011fe umutla bak\u0131yoruz."\u201d<\/p><\/blockquote>\n

\u0130ngiltere'de her 17 ki\u015fiden biri ya\u015fam\u0131 boyunca nadir bir hastal\u0131\u011fa yakalanacak ve bunlar\u0131n 801'den fazlas\u0131 genetik k\u00f6kenlidir.<\/p>\n

Nadir g\u00f6r\u00fclen genetik bozukluklar\u0131n yakla\u015f\u0131k d\u00f6rtte \u00fc\u00e7\u00fc \u00e7ocukluk d\u00f6neminde ortaya \u00e7\u0131kar ve yenido\u011fan yo\u011fun bak\u0131m \u00f6l\u00fcmlerinin neredeyse \u00fc\u00e7te birinden sorumludur.<\/p>\n

2021 y\u0131l\u0131nda NHS, baz\u0131 kanser t\u00fcrlerine sahip \u00e7ocuklar ve baz\u0131 yeti\u015fkinler i\u00e7in rutin olarak t\u00fcm genom dizileme hizmeti sunmaya ba\u015flayan d\u00fcnyadaki ilk ulusal sa\u011fl\u0131k sistemi oldu.<\/p>\n

Bu durum, bug\u00fcn Royal Devon University Healthcare NHS Foundation Trust b\u00fcnyesindeki G\u00fcney Bat\u0131 NHS Genomik Laboratuvar Merkezi'nde Ulusal H\u0131zl\u0131 T\u00fcm Genom Dizileme Hizmeti'nin ba\u015flat\u0131lmas\u0131na yol a\u00e7m\u0131\u015ft\u0131r.<\/p>\n

Exeter merkezli, \u00e7\u0131\u011f\u0131r a\u00e7an bu hizmet, Londra'da d\u00fczenlenen ilk Genomik Sa\u011fl\u0131k Zirvesi'nde NHS Genomik Stratejisi'nin bir par\u00e7as\u0131 olarak ba\u015flat\u0131ld\u0131 ve NHS'nin genomik t\u0131bb\u0131n potansiyelinden yararlanarak hasta bak\u0131m\u0131n\u0131 d\u00f6n\u00fc\u015ft\u00fcrmede d\u00fcnyaya \u00f6nc\u00fcl\u00fck etmesinin bir ba\u015fka \u00f6rne\u011fidir.<\/p>\n

 <\/p>\n <\/div>\r\n

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Payla\u015fmak:<\/p>

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D\u00fcnyada bir ilk olan ulusal genetik test hizmeti, aylar yerine g\u00fcnler i\u00e7inde te\u015fhis koyabilecek ve potansiyel olarak binlerce a\u011f\u0131r hasta \u00e7ocuk ve bebe\u011fin hayat\u0131n\u0131 kurtarabilecek.<\/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\/tr\/wp-json\/wp\/v2\/posts\/651","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/comments?post=651"}],"version-history":[{"count":4,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/posts\/651\/revisions"}],"predecessor-version":[{"id":3723,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/posts\/651\/revisions\/3723"}],"wp:attachment":[{"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/media?parent=651"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/categories?post=651"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bnssghealthiertogether.org.uk\/tr\/wp-json\/wp\/v2\/tags?post=651"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}