Genetic Testing For Chronic Kidney Diseases
Mar 10, 2022
Yog xav paub ntxiv:ali.ma@wecistanche.com
Genetic Testing for Chronic Kidney Disease: ClinicalUtility and Barriers Perceived by Nephrologists
Michal Mug et al
Lub ntsiab lus & Lub Hom Phiaj:
Kev txheeb xyuas cov kab mob pathogenic nyob hauv cov noob cuam tshuam nrogkab mob chronickidneytuaj yeem muab cov neeg mob thiab cov kws kho mob nephrologist nrog cov ntaub ntawv ua tau los qhia kev kuaj mob thiab cov phiaj xwm kho mob. Txawm li cas los xij, ntau tus kws kho mob nephrologists tsis siv cov tshuaj ntsuam genetic txawm tias tus nqi qis dua lub sijhawm thiab muaj ntau dua.
Kawm Tsim:
Peb tau tshawb fawb los nthuav tawm qhov kev nkag siab ntawm cov neeg laus nephrologists txog kev siv hluav taws xob thiab kev cuam tshuam rau kev soj ntsuam genetic test inclinical xyaum.
Kev teeb tsa & cov neeg koom nrog:
Daim ntawv ntsuam xyuas online tau muab rau cov kws kho mob uas muaj ntawv pov thawj nephrologist (n =10,054) hauv Tebchaws Meskas.
Analytical Approach:
Peb tau txheeb xyuas cov yam ntxwv ntawm cov pej xeem ntawm cov neeg teb cov lus nug thiab lawv cov lus teb nyob rau hauv cov ntsiab lus ntawm lawv cov kev siv genetictesting nyob rau hauv niaj hnub kev kho mob.
Cov txiaj ntsig:
Tag nrho ntawm 149 tus kws kho mob nephrologist ua tiav qhov kev tshawb fawb, nrog 72 feem pua (107 ntawm 149) qhia txog kev siv tshuaj ntsuam genetic tests hauv lawv cov kev xyaum. Qhov nruab nrab, kuaj tau txiav txim rau 3.8 feem pua ntawm lawv cov neeg mob.Peb caug-tsib feem pua ntawm cov lus teb los ntawm nephrologists yam tsis muaj keeb kwm ntawm kev kuaj caj ces suav nrog kev cuam tshuam pom tau tias yog 'tsis tshua muaj txiaj ntsig' piv nrog 23 feem pua ntawm cov lus teb los ntawm cov neeg uas yav tas los siv cov tshuaj genetictests. Txawm li cas los xij, ob qho tib si cov neeg siv thiab cov neeg tsis siv cov kev ntsuam xyuas caj ces tau qhia tias tus nqi siab (cov neeg siv: 46 feem pua, 49 ntawm 107; cov neeg siv tsis yog 69 feem pua, 29 ntawm 42) thiab cov neeg siv tsis zoo lossis tsis yooj yim (cov neeg siv: 33 feem pua, 35 ntawm 107; nonusers: 57 feem pua; 24 ntawm 42) ntawm genetictesting raws li qhov tseem ceeb tshaj plaws perceived barriers rau kev siv.
Kev txwv:
Kev tshawb fawb siv hauv qhov kev tshawb fawb no tsis tau lees paub yav dhau los; Tsis tas li ntawd, vim muaj cov lus teb me me, tej zaum yuav muaj kev xaiv tsis zoo ntawm cov neeg teb.
Cov lus xaus:
Txawm hais tias feem ntau cov kws kho mob nephrologists tau tshaj tawm siv cov kev ntsuam xyuas caj ces hauv kev kho mob, cov nqi siab thiab cov khoom siv tsis zoo lossis qhov tsis yooj yim ntawm kev siv tau pom tias yog qhov teeb meem tseem ceeb tshaj plaws ntawm kev saws me nyuam. Cov kev soj ntsuam no qhia tau hais tias cov kev kawm uas muaj ntau yam ntawm cov ncauj lus, los ntawm cov noob caj noob cesmob raum moblos xaiv qhov kev sim, yuav pab txo tau cov teeb meem no thiab txhim kho kev siv cov tshuaj ntsuam genetic test innephrology xyaum.
Cistanche yog qhov zoo raumob raum mob
Nyem rau cistanche cov txiaj ntsig thiab cov kev mob tshwm sim thiab Cistanche rau mob raum mob
Mob raum mob(CKD) yog ib qho kev sib tw tseem ceeb rau pej xeem kev noj qab haus huv, nrog ob peb txoj kev kho mob thiab kev nthuav dav ntawm w15 feem pua hauv Tebchaws Meskas.1 Hauv 2017, CKD(cmob raum mob)cuam tshuam w700 lab tus tib neeg thoob ntiaj teb, ua rau 1.2 lab tus neeg tuag.2 Hauv qhov xwm txheej hnyav tshaj plaws, CKD nce mus rau theem kawgmob raum, uas yuav tsum tau them nyiaj rau kev kho mob raum xws li kev lim ntshav lossis hloov lub raum.3 Qib siab CKD(cmob raum mob)kuj tuaj yeem ua rau muaj teeb meem ntau yam uas ua rau muaj kev mob nkeeg thiab kev tuag. Piv txwv li, CKD yog ib qho kev pheej hmoo tseem ceeb rau cov kab mob plawv. Xyoo 2017, kev tuag vim yog CKD(cmob raum mob)thiab CKD-attributable kab mob plawv suav rau 4.6 feem pua ntawm cov neeg tuag tag nrho thoob ntiaj teb.2
Tshaj li 30 feem pua ntawm cov neeg mob uas muaj CKD qhia txog tsev neeg keeb kwm.4 Tsis tas li ntawd, cov kab mob sib txawv (tseem hu ua kev hloov pauv) hauv ib lub noob tuaj yeem txheeb xyuas tau hauv w10 feem pua ntawm cov neeg laus nrog CKD, 5 nrog ntau dua 500 tus kab mob monogenic-txuas sib txawv tau txheeb xyuas txog niaj hnub no. 4 Txawm hais tias qhov kev koom tes ntawm ntau qhov sib txawv ntxiv rau cov kab mob ntawm cov neeg laus CKD(cmob raum mob) tseem tsis paub, 6 tus yam ntxwv ntawm cov noob no thiab cov proteins uas lawv encode txuas ntxiv mus rau kev nkag siab ntawm CKD causality. Tsis tas li ntawd, cov kev tshawb pom no tau ua rau muaj kev txhim kho ntawm cov phiaj xwm kuaj mob, kev kuaj mob, thiab cov tswv yim kho mob rau cov teeb meem no.
Kev tswj cov caj ces thiab tau txais cov ntaub ntawv ntawm CKD(cmob raum mob) tuaj yeem sib txawv, thiab txiav txim siab qhov laj thawj ntawm CKD(cmob raum mob)Kev siv cov cuab yeej kuaj mob ib txwm muaj peev xwm ua tau nyuaj.7 Kev txheeb xyuas cov kab mob sib txawv hauv cov noob caj noob ces hauv CKD-txuas nrog covgenes tuaj yeem muab cov neeg mob thiab cov kws kho mob nephrologist nrog cov ntaub ntawv tsim nyog uas tuaj yeem pab qhia kev kuaj mob, pab txhim kho cov phiaj xwm kho mob, thiab ua rau muaj kev xa mus rau kev tswj hwm cov teeb meem extrarenal. Tsis tas li ntawd, tsim kom muaj caj ces ntawm CKD(cmob raum mob) los yog kawg-theemmob raumtuaj yeem cuam tshuam rau kev tswj hwm kev kho mob ntawm tus neeg mob tsev neeg. Piv txwv li, tsim kom muaj kev kuaj mob caj ces tuaj yeem ua rau muaj kev sim thiab tshuaj xyuas cov neeg hauv tsev neeg, thiab cov txiaj ntsig ntawm qhov kev sim no tuaj yeem qhia ncaj qha rau lawv cov kev tswj hwm kev kho mob (xws li kev kuaj mob ntxov thiab kev kho mob, kev npaj tsev neeg, lossis kev xaiv cov neeg muaj feem cuam tshuam nrog rau kev hloov pauv. ). Tsis tas li ntawd, kev txheeb xyuas cov kab mob CKD(cmob raum mob) gene variants tuaj yeem muab cov ntaub ntawv kuaj mob ntxiv rau, lossis hloov pauv, lub raum biopsy Keeb Kwm, kev siv tshuaj ntsuam genetic test rau cov neeg mob CKD(cmob raum mob) raug txwv los ntawm cov nqi siab ntawm DNA sequencing.Txawm li cas los xij, kev nce qib hauv kev sib txuas ntawm cov tiam tom ntej tau ua rau kev txhim kho ntawm ntau qhov chaw kho mob qis dua uas muab kev sim ib txhij ntawm ntau yam CKD.(cmob raum mob)genes.8 Txawm li cas los xij, txawm li cas los xij, txawm tias muaj kev nce qib hauv kev siv thev naus laus zis thiab cov nqi txo qis, kev kuaj caj ces tsis tau txais kev pom zoo los ntawm nephrologists. Txhawm rau txheeb xyuas qhov laj thawj rau qhov kev siv tsis zoo no, peb tau tshawb xyuas cov kws kho mob nephrologists hauv Tebchaws Meskas txog lawv cov kev coj ua tam sim no thiab pom tias muaj txiaj ntsig ntawm kev kuaj caj ces nrog rau kev cuam tshuam rau kev lees txais cov kev sim no.
Txoj kev
Survey Design and Content
Peb tsim ib qho 29-cov lus nug hauv online raws li kev tshawb fawb kev lag luam yav dhau los thiab cov neeg mob tsom rau pawg ua los ntawm Natera, Inc. Daim ntawv ntsuam xyuas muaj ntau yam kev xaiv, qeb duas, thiab cov lus nug sau-hauv-tus-dawb (Table S1).Rau cov lus nug Hais txog qhov pom tau tias muaj peev xwm cuam tshuam txog kev kuaj ntshav, cov neeg teb tau txheeb xyuas txhua yam ntawm cov khoom muab rau ntawm qhov ntsuas ntawm 1 (tsis yog ib qho teeb meem) txog 5 (qhov tseem ceeb). Cov neeg koom nrog kev soj ntsuam kuj tau txheeb xyuas qhov tseem ceeb ntawm ntau hom kev txhawb nqa los ua kom yooj yim rau kev txiav txim siab ntawm kev ntsuam xyuas caj ces ntawm qhov ntsuas ntawm 1 (tsis tseem ceeb) txog 5 (tseem ceeb heev). Rau cov lus nug hais txog kev txheeb xyuas qhov xwm txheej kho mob thiab kev kuaj mob tshwj xeeb rau qhov kev kuaj caj ces yuav muaj nuj nqis, cov neeg koom tau raug tso cai xaiv ntau pawg.
Kev Tshaj Tawm thiab Kev Kawm Qauv
Daim ntawv ntsuam xyuas tau tuav los ntawm Survey HealthcareGlobus, uas tau siv cov cuab yeej siv thev naus laus zis nrog rau pawg kws saib xyuas kev noj qab haus huv uas muaj tswv yim los txheeb xyuas thiab tswj xyuas cov neeg teb cov lus nug. Daim ntawv ntsuam xyuas tau muab faib rau 10,054 nephrologists hauv Tebchaws Meskas los ntawm email (American Board of Internal Medicine tau tshaj tawm 10,901nephrologists nrog cov ntawv pov thawj hauv Tebchaws Meskas hauv 20209). Cov neeg teb yuav tsum tau teb cov lus nug los tshuaj xyuas lawv qhov kev tsim nyog ua ntej mus rau cov lus nug tshawb fawb (Table S1). Cov kev cais tawm suav nrog cov hauv qab no: (i) kev xaiv ntawm ib qho tshwj xeeb uas tsis yog cov neeg laus nephrology (ie, transplantnephrology, pediatric nephrology, phais, lwm yam), (ii) notboard-certified nyob rau hauv general nephrology, los yog (iii) xyaum nephrology tsawg tshaj li 2. xyoo. Cov neeg teb uas ua tiav daim ntawv ntsuam xyuas tau txais $ 35 honorarium los ntawm tus tswv tsev soj ntsuam. Kev tshawb fawb tau tshaj tawm nyob rau hauv 2 theem nyob rau hauv Lub Xya hli ntuj 2020 thiab raug kaw 16 hnub tom qab pib pib ib zaug 150 cov lus teb tsim nyog tau txais.
Txhua daim ntawv ntsuam xyuas kev tswj hwm thiab ceeb toom email thiab them nyiaj rau kev soj ntsuam tiav tau ua los ntawm Survey Healthcare Globus. Natera, Inc. tsis koom nrog cov kev xaiv no ntawm cov neeg koom, kev tswj hwm ntawm daim ntawv ntsuam xyuas, lossis kev tshaj tawm ntawm daim ntawv ntsuam xyuas. Tsis muaj qhov qhia tau tias qhov kev tshawb fawb tau tsim los yog txhawb nqa los ntawm Natera, Inc. Txoj kev tshawb no tsis muaj cov ntaub ntawv tus neeg mob; tab sis, nws yog ib qho kev soj ntsuam ntawm cov kws kho mob thiab lawv tus cwj pwm ntawm kev kuaj caj ces. Yog li ntawd, txoj kev tshawb no tau raug zam los ntawm lub koom haum saib xyuas cov cai. Txhua tus neeg teb tau pom zoo los koom nrog hauv daim ntawv ntsuam xyuas, thiab kev tso cai tsis xav tau vim tsis muaj cov ntaub ntawv ntsig txog kev noj qab haus huv tau sau tseg.
Cistanche yog qhov zoo raumob raum mob
Kev txheeb xyuas cov ntaub ntawv
Kev piav qhia statistical analyses tau ua los piav qhia cov pej xeem thiab qhov zaus ntawm cov lus teb rau cov lus nug. Kev sib piv ntawm kev xeem xaj tus cwj pwm raws li qib ntawm kev kawm tau txheeb xyuas siv Kruskal-Wallistest (P-value<0.05 was="" considered="" significant).="" an="" analysis="" of="" questions="" involving="" the="" ranking="" of="" barriers="" and="" resources="" was="" performed="" by="" the="" quantification="" of="" the="" responses="" using="" the="" 5="" (significant="" barrier="" or="" extremely="" important)="">
TSEEM CEEB
Cov ntaub ntawv pej xeem
Of the 10,054 nephrologists contacted, 209 responded to the 29-question survey (gross response rate of 2.1%). However, 60 responses were excluded because of ineligibility (n = 50), incompletion of the survey (n = 9), or invalid responses (n = 1). In a final cohort of 149 respondents (effective response rate of 1.5%), general nephrologists represented 35 states (including the District of Columbia), with the largest proportion of 38.9% (58 of 149) located in the southern region, consistent with the breakdown of US board-certified nephrologists in 2020, as reported by the American Board of Internal Medicine (Table 1).9 Sixty-nine percent (n = 103) of the survey respondents worked in private practice settings, with 29% (n = 43) in large practices of >10 tus neeg muab kev pabcuam thiab 40 feem pua (n=60) hauv kev coj ua me me nrog<10 providers,="" which="" was="" consistent="" with="" data="" regarding="" the="" nephrology="" workforce="" reported="" by="" the="" american="" medical="" association.10="" the="" largest="" proportion="" of="" respondents="" (46%;="" n="69)" practiced="" nephrology="" for="" a="" period="" of="" 10-20="" years="" (table="">
Trends in Genetic Test Siv rau CKD(cmob raum mob)Ntawm GeneralNephrologists
Ntawm 149 tus neeg teb (piv txwv li, nephrologists) suav nrog cov pab pawg zaum kawg, 107 (72 feem pua) qhia txog kev txiav txim siab ntau dua lossis sib npaug rau 1 qhov kev ntsuam xyuas caj ces, qhov nruab nrab, ib hlis (tsim yog "cov neeg siv"), whereas 42 (28 feem pua) qhia txog kev txiav txim qhov nruab nrab ntawm 0 kev ntsuam xyuas caj ces ib hlis (tsim yog "tsis siv neeg"); Nws yog qhov ua tau tias "nonusers" kuj tau txiav txim siab kuaj ntshav tab sis ntawm tus nqi ntawm<1 per="" month.="" the="" median="" number="" of="" genetic="" tests="" reported="" by="" "users"="" with="" a="" history="" of="" orders="" was="" 2="" per="" month="" (range:="" 1-100).="" the="" average="" proportion="" of="" patients="" for="" whom="" genetic="" tests="" were="" ordered="" was="" 3.8%="" (sd="" 7.4%).="" eighty-three="" percent="" (n="89)" of="" the="" respondents="" indicated="" that="" they="" tested="" ≤5%="" of="" their="" patients,="" whereas="" 49%="" (n="52)" indicated="" that="" they="" tested=""><1% of="" their="" patient="" population="" (fig="">
Rov qab los ntawm Kev Kawm Ua Ntej Hauv Kev Tshawb Fawb Ntawm Cov Neeg Mob Nephrologist
Txhawm rau nkag siab txog kev sib raug zoo ntawm kev cob qhia cov noob caj noob ces thiab kev siv cov tshuaj ntsuam genetic tests ntawm nephrologists, cov neeg teb cov lus nug tau teev lawv cov kev kawm hauv noob caj noob ces: 21 feem pua (n=31) qhia tias "ntev", 72 feem pua (n=108) ) qhia tias "limited", thiab 7 feem pua (n=10) qhia tias tsis muaj kev kawm ua ntej hauv noob caj noob ces. Kev sib piv ntawm cov xov tooj ntawm cov kev ntsuam xyuas tau txiav txim ib hlis twg thaum stratified los ntawm txhua tus neeg teb cov theem ntawm kev kawm txog noob caj noob ces, qhia tau hais tias nephrologists nrog "kwv yees" kev kawm nyob rau hauv geneticsordered, nyob rau hauv nruab nrab, ntau yam kev ntsuam xyuas noob caj noob ces (20.2 ± 27.7) dua cov nrog. "limited" (3.1 ± 6.1) lossis tsis muaj kev kawm (0.3 ±0.4; P < 0.001)="" (fig="">
Perceived Utility of Genetic Testing nyob rau hauv GeneralNephrology
Kev teeb tsa Cov kws tshawb fawb nephrologists raug nug kom txheeb xyuas qhov chaw kho mob uas lawv xav tias kev tshuaj ntsuam genetic testing muaj nqis tshaj plaws ntawm cov pab pawg: (i) txhua tus neeg mob CKD(cmob raum mob), (ii) cov neeg mob CKD(cmob raum mob)ntawm etiology tsis paub, (iii) cov neeg mob uas muaj kev kuaj mob tshwj xeeb, lossis (iv) cov neeg mob me. Feem ntau, tsis hais txog lawv cov keeb kwm ntawm kev siv tshuaj ntsuam genetic test, qhia tias kev kuaj caj ces yog qhov tseem ceeb tshaj plaws rau cov neeg mob uas muaj kev kuaj mob tshwj xeeb (cov neeg siv: 75 feem pua, 80 ntawm 107; cov neeg tsis siv: 86 feem pua, 36 ntawm 42) thiab kev ntsuam xyuas ntawm cov neeg mob nrog CKD(cmob raum mob)ntawm etiology tsis paub (cov neeg siv: 69 feem pua, 74 ntawm 107; nonusers: 38 feem pua, 16 ntawm 42; Table 2). Cov kev kuaj mob tshwj xeeb uas kuaj genetictesting tau qhia tias muaj txiaj ntsig zoo tshaj plaws yog cov kab mob cysticdiseases (cov neeg siv: 69.2 feem pua, 74 ntawm 107; cov neeg tsis siv: 76.2 feem pua, 32 ntawm 42) thiab cov kab mob glomerular (cov neeg siv: 56.1 feem pua, 60.2 ntawm 107; feem pua , 22 ntawm 42) (Table 2).
Perceived Barriers rau Genetic
Cov kws kho mob nephrologists qeb duas txhua qhov ntawm 5 qhov muaj peev xwm tiv thaiv kev siv tshuaj tiv thaiv kab mob (tus nqi ntawm kev sim, muaj lossis tsis muaj kev sim yooj yim, nkag mus rau cov kws paub txog noob caj noob ces, tsis muaj pov thawj kev siv hluav taws xob, kev paub txog kev txhais cov txiaj ntsig) ntawm qhov ntsuas ntawm 1 (tsawg kawg) txog 5 ( tseem ceeb tshaj) (n=730 lus teb). Qhov feem ntau ntawm cov lus teb los ntawm cov neeg siv tsis tau raug suav tias yog "5" (35 feem pua , 74 ntawm 210), qhov siab tshaj plaws ntawm cov lus teb los ntawm cov neeg siv (33 feem pua, 172 ntawm 520) tau qhab nia teeb meem raws li "4" ntawm 5-taw tes scale (Daim duab 2A).Txawm hais tias lawv keeb kwm ntawm kev siv tshuaj ntsuam genetic tests, nephrologists qhia tias tus nqi ntawm kev kuaj rau cov neeg mob yog qhov teeb meem tseem ceeb tshaj plaws (cov neeg siv: 46 feem pua, 49 ntawm 107; nonusers 69 feem pua, 29 ntawm 42). Qhov teeb meem thib ob tseem ceeb tshaj plaws yog qhov tsis txaus lossis tsis yooj yim ntawm kev sim (cov neeg siv: 33 feem pua, 35 ntawm 107; cov neeg tsis siv: 57 feem pua; 24 ntawm 42). Qhov teeb meem tseem ceeb tshaj plaws tau tshaj tawm yog qhov tsis muaj kev siv pov thawj pov thawj thiab tsis muaj kev paub txog kev txhais lus (Daim duab 2B).
Perceived Utility of Resources that may overcome barrier to Genetic Testing
Cov kws kho mob nephrologists kuj tau txheeb xyuas qhov tseem ceeb ntawm 4 cov peev txheej uas tau thov kom kov yeej qhov kev txwv tsis pub kuaj caj ces ntawm qhov ntsuas ntawm 1 (tsis tseem ceeb) rau 5 (tseem ceeb heev) (n=596 cov lus teb). Txhua qhov chaw muab kev pabcuam raug suav hais tias tseem ceeb heev, nrog 46 feem pua (273 ntawm 596) ntawm tag nrho cov lus teb poob rau hauv "5" qeb (Table 3). Tsis tas li ntawd, cov neeg teb cov lus nug tau qhia txog kev txaus siab rau txhua qhov kev xaiv kev kawm rau cov kws kho mob thiab cov neeg mob (Table 3).
Kev sib tham
Kev kuaj caj ces tau hloov pauv kev kuaj mob, kev kuaj mob, thiab kev kho mob mus rau ntau yam kev mob tshwm sim, suav nrog CKD(cmob raum mob). Txawm li cas los xij, qhov kev coj ua ntawm kev coj noj coj ua ntawm cov tshuaj genomic, suav nrog kev tshuaj ntsuam genetic test, innephrology tseem qis.10 Yog li ntawd, peb tau soj ntsuam kom nkag siab txog kev nkag siab thiab cov teeb meem uas nephrologists yuav muaj rau kev siv cov kev ntsuam xyuas caj ces thiab txheeb xyuas cov kev kawm uas yuav siv tau. Qhov kev tshawb fawb no tsis yog tsim los qhia kev txiav txim siab kho mob raws li cov txiaj ntsig ntawm kev tshuaj ntsuam genetic test.
Peb txoj kev tshawb fawb tau qhia tias feem ntau cov kws kho mob nephrologists uas teb rau peb qhov kev tshawb fawb muaj keeb kwm ntawm kev siv tshuaj genetictesting (72 feem pua) thiab lawv txaus siab rau nws tus nqi hauv kev tswj hwm ntawm cov ntawv qub qub ntawm CKD.(cmob raum mob). Qhov txiaj ntsig zoo tshaj plaws tau pom zoo rau CKD(cmob raum mob)Tsis paub txog etiology thiab cystic thiab glomerular kab mob. Cov txiaj ntsig zoo li no qhia tias cov kws kho mob nephrologists nkag siab txog tus nqi ntawm kev kuaj caj ces, tshwj xeeb tshaj yog nyob rau hauv cov ntsiab lus kho mob uas yuav ua rau muaj kev kuaj mob caj ces. Yog li, nws xav tias qhov kev nkag siab zoo dua ntawm cov caj ces tseem ceeb uas ua rau lub raum tsis ua haujlwm (piv txwv li, los ntawm kev kawm txuj ci) yuav txhawb nqa kev siv dav dav ntawm kev kuaj caj ces los ntawm cov kws kho mob nephrologist. Piv txwv li, kev tshuaj ntsuam genetic tests tau pom tias yuav tsis pom qhov tshwm sim ntawm qhov tshwm sim txog li 20 feem pua ntawm cov neeg mob CKD.(cmob raum mob)nrog tsis paub txog etiology5 thiab tuaj yeem ua rau muaj kev sib cais ntawm kev kuaj mob hauv w20 feem pua ntawm cov neeg mob.4,7,11 Kev txheeb xyuas cov kab mob sib txawv hauv CKD(cmob raum mob)-Cov noob caj ces tseem tuaj yeem qhia txog kev mob thiab kev kho mob. Food and Drug Administration-pom zoo cov kev kho mob tam sim no muaj rau qee yam kev mob caj ces zoo xws li autosomal dominant polycystic.raumkab mob.12 Tsis tas li ntawd, kev nkag siab zoo dua ntawm cov noob caj noob ces ntawmraumkab mobtuaj yeem qhia txog kev txhim kho cov tswv yim kho tshiab rau cov kab mob no (xws li nephronophthisis; tshuaj xyuas hauv kev tshawb fawb los ntawm Stokman li al13 thiab Slaats li al14). Tsis tas li ntawd, subtypes ntawm CKD(cmob raum mob)Feem ntau tuaj yeem sib koom ua ke phenotypic sib tshooj nrog lwm cov kab mob, xws li Alport syndrome - feem ntau ntawm cov kab mob glomerular CKD.(cmob raum mob)-uas yog tshwm sim los ntawm cov kab mob sib txawv hauv COL4A3, COL4A4, lossis COL4A5genes, thiab steroid-resistant nephrotic syndrome, uas cuam tshuam nrog ntau yam sib txawv hauv ntau dua 40 genes.15 Txawm li cas los xij, lwm hom CKD(cmob raum mob)uas feem ntau xav tias yuav tau txais, xws li mob ntshav siab thiab mob ntshav qab zib nephropathies, uas ob peb tus kws kho mob nephrologists hauv peb qhov kev tshawb fawb qhia tias muaj txiaj ntsig zoo hauv kev kuaj caj ces, kuj tuaj yeem muaj cov cuab yeej cuab tam. 16-19 Kev nce qib ntawm hypertensive andglomerularraumkab mobKuj tseem muaj feem cuam tshuam nrog geneticrisk yam, xws li kev hloov pauv hauv APOL1, uas tam sim no muaj nyob rau hauv 10 feem pua ntawm cov neeg Asmeskas Asmeskas cov pej xeem.20 Kev siv cov kev ntsuam xyuas caj ces txhawm rau txheeb xyuas cov neeg muaj kev pheej hmoo yuav tso cai rau kev siv cov phiaj xwm kev cuam tshuam ntxov rau cov uas muaj kev pheej hmoo ntawm kev loj hlob. CKD(cmob raum mob).Peb qhov kev tshawb pom kuj tau qhia tias 28 feem pua ntawm cov nephrologistshad tsis siv cov tshuaj ntsuam genetic tests hauv lawv cov kev xyaum. Qhov txiaj ntsig zoo no tau kwv yees tsis txaus ntseeg qhov tseeb ntawm cov neeg tsis siv cov tshuaj ntsuam genetic tests, muab cov lus teb tsis tshua muaj los ntawm kev tshawb fawb thiab qhov ua tau tias cov neeg siv tshuaj ntsuam caj ces yuav muaj feem ntau los teb rau daim ntawv ntsuam xyuas no. Cov kev tshawb pom no zoo ib yam nrog cov kev tshawb fawb tsis ntev los no ntawm kev coj cwj pwm rau kev siv cov tshuaj ntsuam genetic testers ntawm cov kws kho mob nephrology hauv Australia.21 Feem ntau ntawm cov kws kho mob nephrologists uas tsis tau siv cov tshuaj ntsuam genetic kev txhawj xeeb hauv cov ntsiab lus ntawm w10 feem pua ntawm CKD.(cmob raum mob)Cov laj thawj uas yog vim muaj cov kab mob sib txawv hauv cov noob caj noob ces.5 Kev siv ntau ntxiv ntawm kev kuaj caj ces tuaj yeem pab txheeb xyuas cov neeg mob no thiab pab tswj lawv cov kev kho mob.
Cistanche yog qhov zoo raumob raum mob
Zoo ib yam li peb txoj kev tshawb fawb, Jayasinghe et al21 pom tias feem ntau cov kws kho mob tau txiav txim siab kuaj caj ces muaj txiaj ntsig zoo hauv kev tswj cov neeg mob uas xav tias muaj cov caj ces ntawm CKD.(cmob raum mob). Ua ke, kev nkag siab ntawm kev siv hluav taws xob siab tab sis kev siv qis ntawm kev kuaj caj ces qhia tias cov teeb meem tseem ceeb tiv thaiv nws txoj kev siv dav dav los ntawm nephrologists. Peb txoj kev tshawb fawb tau txheeb xyuas ntau yam kev cuam tshuam txog kev cuam tshuam, ntawm qhov tseem ceeb tshaj plaws yog tus nqi siab ntawm kev ntsuam xyuas caj ces. Txawm li cas los xij, raws li National Human Genome Research Institute cov ntaub ntawv, tus nqi ntawm sequencing 1 Mb (ib lab lub hauv paus) tau poob ntawm $ 5,292.39 hauv 2001 txog $ 0.008 hauv 2020, ua rau cov tiam tom ntej sequencing mus kom ze ntau tus nqi pheej yig thiab ua tau ntxiv.22 , tiam tom ntej sequencing-raws li kev ntsuam xyuas yog tus nqi ntau dua li ib leeg-gene mus kom ze rau cov kab mob nyob rau hauv cov kev soj ntsuam kuaj mob yuav bedifficult23 thiab feem ntau yuav pheej yig dua li diagnostic txoj kev xws li raum biopsy.24 Txawm hais tias peb txoj kev tshawb no tsis muaj xws li kev soj ntsuam ntawm cov perceived. cov nqi ntawm kev tshuaj ntsuam genetictesting, qhov poob sai ntawm cov nqi ntawm kev sib txuas ntxiv tom ntej thiab kev nthuav dav hauv kev sim cov kev xaiv qhia tias yuav tsum muaj kev kawm txuas ntxiv txog tus nqi-zoo ntawm kev kuaj caj ces yog xav tau.
Peb txoj kev tshawb fawb kuj tau txheeb xyuas qhov tsis yooj yim ntawm cov txheej txheem genetictest ordering raws li kev cuam tshuam ntawm nephrologists (los ntawm ob tus neeg siv thiab tsis siv cov tshuaj ntsuam genetic test). Qhov tsis muaj peev xwm los txiav txim siab qhov kev ntsuam xyuas caj ces tsim nyog kuj tsis ntev los no tau pom tias yog ib qho teeb meem loj rau kev siv cov tshuaj ntsuam genetic tests bynephrologists.21 Ib txoj kev tshawb fawb tsis ntev los no tau qhia tias kwv yees li ib nrab ntawm cov kev ntsuam xyuas caj ces tau txiav txim los ntawm cov kws kho tsis muaj noob caj noob ces tsis yog qhov kev xaiv tsim nyog tshaj plaws, raws li kev txiav txim siab raws li tus neeg mob keeb kwm kho mob. , thiab qhov kev xaiv ntawm cov kev ntsuam xyuas raug tau ua rau txo nqi rau ob qho tib si kev coj ua thiab cov neeg mob.25 Peb tau txheeb xyuas qhov kev sib raug zoo ntawm qib kev kawm noob caj noob ces thiab cov naj npawb ntawm cov kev ntsuam xyuas ntawm nephrologists hauv peb daim ntawv ntsuam xyuas. Qhov kev tshawb pom no qhia tau hais tias muab cov kev kawm hauv cov noob caj noob ces tuaj yeem ua rau tus kws kho mob muaj kev nplij siab hauv kev siv cov tshuaj ntsuam genetic hauv lawv cov kev coj ua.
Ntawm cov nephrologist cov yam ntxwv uas peb stratified rau hauv peb qhov kev tshuaj ntsuam (xws li US cheeb tsam thiab institutiontype), kev kawm noob caj noob ces tsuas yog tus yam ntxwv uas ua rau muaj qhov sib txawv tseem ceeb hauv kev txiav txim cov qauv (Fig S1, Table S2). Txawm hais tias muaj qhov sib txawv ntawm cov qauv kev txiav txim siab sib txawv ntawm kev kawm noob caj noob ces, qhov tseem ceeb ntawm cov teeb meem tau pom zoo ib yam los ntawm txhua pawg (Table S3). Cov kev tshawb pom no qhia tau tias txhua tus kws kho mob nephrologist tuaj yeem tau txais txiaj ntsig los ntawm kev tshaj tawm cov peev txheej kev kawm.
Daim duab 1. Kev ntsuam xyuas caj ces xaj ntau zaus thiab nws txoj kev sib raug zoo nrog kev kawm txog noob caj noob ces ntawm US nephrologists. (A) Qhov kev ntsuam xyuas caj ces txiav txim siab zaus tau suav nrog "cov neeg siv" (n=107) raws li cov ntaub ntawv tshaj tawm ntawm cov ntawv xeem xaj ib hlis thiab tus lej ntawm cov neeg mob tshwj xeeb pom hauv ib hlis rau txhua tus neeg teb. Qhov kev faib ua feem ntawm nephrologists uas tau txiav txim rau kev kuaj caj ces rau<1% of="" their="" patients="" was="" 48.6%.="" (b)="" the="" reported="" number="" of="" tests="" ordered="" per="" month="" was="" stratified="" by="" the="" level="" of="" education="" in="" genetics="" indicated="" by="" each="" respondent="" (n="149)." a="" positive="" relationship="" was="" identified="" between="" physician="" education="" in="" genetics="" and="" the="" number="" of="" genetic="" tests="" ordered="" per="" month.="" nephrologists="" with="" prior="" education="" in="" genetics="" ordered="" more="" genetic="" tests="" than="" those="" with="" no="" such="" education.="" similarly,="" those="" with="" extensive="" education="" in="" genetics="" ordered="" genetic="" tests="" more="" frequently="" than="" those="" with="" only="" limited="" education.="" *p="" <="" 0.05.="" ****p="" <="" 0.0001="" by="" kruskal-wallis="">
Peb qhov kev tshawb fawb tau qhia txog kev txaus siab rau cov kev kawm uas nthuav dav ntau yam, los ntawm cov noob caj noob ces hauv CKD(cmob raum mob)rau qhov cuam tshuam txog kev tuav pov hwm. Ob qhov kev tshawb fawb tsis ntev los no qhia tau hais tias cov kws kho mob nephrologists txheeb xyuas qhov tsis xis nyob hauv kev hais lus nrog cov neeg mob txog qhov tshwm sim26 thiab kev txhais cov txiaj ntsig ntawm cov noob caj noob ces yog qhov nyuaj rau kev sim ua.21 Ntxiv rau kev txhais cov txiaj ntsig, peb daim ntawv tshawb fawb tau qhia tias yuav tsum muaj peev txheej los pab nephrologists pab kev sib tham nrog cov neeg mob txog lub peev xwm. cov txiaj ntsig, kev txwv, thiab kev pheej hmoo ntawm kev kuaj caj ces. Muaj kev txaus siab ntawm cov neeg teb rau hauv kev nkag mus rau cov kws pab tswv yim caj ces tau muab rau cov kws kho mob thiab cov neeg mob raws li qhov xav tau (Table 3). Cov kws pab tswv yim txog noob caj noob ces thiab lwm cov kws paub txog noob caj noob ces tuaj yeem txheeb xyuas cov tswv yim ntsuas tsim nyog, txhais cov txiaj ntsig, thiab txiav txim siab qhov kev tshuaj ntsuam xyuas tsim nyog ntawm cov neeg hauv tsev neeg muaj feem cuam tshuam nrog presymptomatic. ntawm kev kuaj caj ces. Tsis tas li ntawd, cov chaw soj nstuam muab kev kuaj caj ces rau CKD(cmob raum mob)yuav tsum ua kom tiav cov tswv yim kev kawm thiab cov peev txheej rau cov kws kho mob hais txog cov ncauj lus, xws li cov nqi tam sim no ntawm cov kev xaiv tshuaj ntsuam genetic sib txawv thiab cov txheej txheem genetictesting thiab cov nqi them nqi, thiab pib sib tham nrog cov neeg mob ua ntej thiab tom qab ua cov tshuaj ntsuam genetic testing.
Txoj kev tshawb fawb tam sim no qhov kev txwv loj yog tias nws tseem tsis paub tias peb cov lus teb tau zoo npaum li cas sawv cev rau tag nrho pawg neeg soj ntsuam ntawm nephrologists. Vim yog cov qauv me me thiab cov lus teb tsis tshua muaj, nws muaj peev xwm ua tau tias cov lus teb rau qhov kev sojntsuam tsis ncaj ncees. Cov neeg siv cov tshuaj ntsuam genetic testsmight tau mob siab rau teb rau qhov kev ntsuam xyuas, ua rau muaj kev hnyav hnyav hnyav rau cov neeg siv ntau zaus ntawm cov kev ntsuam xyuas caj ces. Xws li kev tsis ncaj ncees tuaj yeem piav qhia txog feem ntau ntawm cov neeg mob uas tau txiav txim genetictesting ntawm txhua tus neeg mob pom los ntawm tus kheej nephrologists. Txawm hais tias muaj peev xwm ua rau muaj kev tsis ncaj ncees, qhov kev tshawb fawb no muab cov ntaub ntawv tseem ceeb ntsig txog kev nkag siab txog kev kuaj caj ces ntawm nephrologists nrog lossis tsis muaj keeb kwm ntawm kev siv tshuaj ntsuam genetic test. Lwm qhov kev txhawj xeeb yog qhov tseeb ntawm cov lus teb tau muab; Qhov no yog vim qhov kev tshawb fawb no tsis yog tswj ncaj qha los ntawm cov neeg ua haujlwm tshawb fawb thiab tso siab rau cov neeg teb cov lus xav. Piv txwv li, qee cov lus teb tau muab rau tus naj npawb ntawm cov kev ntsuam xyuas caj ces (xws li, 100 ib hlis) zoo li siab dhau. Thaum kawg, vim muaj cov lus teb me me, qhov kev tshawb fawb no tsis muaj zog los tso cai stratification raws li cov lus teb tshwj xeeb thiab kev tshuaj xyuas kev sib kho tom qab.
Hauv kev xaus, peb qhov kev tshawb fawb pom qhov teeb meem ntawm kev kho mob ntawm, qhov zoo ntawm, thiab pom kev cuam tshuam rau kev siv cov kev ntsuam xyuas caj ces ntawm cov nephrologists. Cov kev soj ntsuam no tuaj yeem txhawb nqa kev txhim kho ntawm cov kev kawm uas ua rau muaj kev txaus siab ntawm kev siv cov kev ntsuam xyuas noob caj noob ces, uas tuaj yeem pab nrog kev tswj hwm tus neeg mob thiab txhim kho cov lus qhia siv tau zoo rau kev siv cov tshuaj ntsuam genetic hauv kev xyaum nephrology.
SUPPLEMENTARY KHOOM
Cov ntaub ntawv ntxiv (PDF)
Daim duab S1: Kev ntsuam xyuas caj ces kev txiav txim siab ntawm US nephrologistsstratified los ntawm cheeb tsam thiab lub tsev kawm ntawv hom.
Table S1: Cov lus nug
Table S2: Kev ntsuam xyuas caj ces siv cov qauv hauv cov neeg teb cov lus nug
Table S3: Perceived Barriers to Genetic Testing (Genetics Education Level)
NYEEM NTXIV
Cov Sau Npe Tag Nrho thiab Kev Kawm Qib Siab:
Michal Mrug, MD, Michelle S. Bloom, Ph.D., Christine Seto, MBA, MeenakshiMalhotra, Ph.D., Hossein Tabriziani, MD, Philippe Gauthier, MD, MBA, Vicki Sidlow, MS, MBA, Trudy McKanna, MS , CGC, thiab Paul R. Billings, MD, Ph.D.
Cov kws sau ntawv koom nrog:
Department of Medicine, Lub Tsev Kawm Ntawv ntawm Alabama ntawm Birmingham (MMR), thiab Lub Tsev Haujlwm Saib Xyuas Kev Noj Qab Haus Huv ntawm VeteransAffairs Medical Center (MMR), Birmingham, Alabama; thiab Natera, Inc (MSB, CS, MMA, HT, PG, VS, TM, PRB), San Carlos, California.
Chaw Nyob rau Kev Sib Tham:
Michal Mrug, MD, Division of Nephrology, University of Alabama ntawm Birmingham, 1900 UniversityBlvd, THT 611J, Birmingham, AL 35294. Email: mmrug@uab.edu
Cov neeg sau ntawv koom nrog:
Kawm tsim: MMR, CS, TM; Kev txheeb xyuas cov ntaub ntawv: CS, MSB; Kev txhais cov ntaub ntawv: TM, MSB, VS, MMR; Kev saib xyuas ormentorship: HT, PG, VS, PRB, MMA. Txhua tus kws sau ntawv tau muab cov ntsiab lus tseem ceeb ntawm kev txawj ntse thaum lub sijhawm sau ntawv sau los yog kho dua tshiab thiab lees txais kev lav phib xaub rau tag nrho cov haujlwm los ntawm kev ua kom cov lus nug txog qhov raug lossis kev ncaj ncees ntawm ib feem ntawm txoj haujlwm raug tshawb xyuas thiab daws kom raug.
Kev them nyiaj yug:
Natera, Inc. muab kev txhawb nqa rau kev tshawb fawb, kev nthuav tawm, kev qhuas, kev tsom xam, sau ntawv, thiab xa cov ntawv sau. Dr. Mrug kuj yog ib feem, txhawb nqa los ntawm NationalInstitute of Diabetes thiab Digestive thiabKab mob raumgrantU54 DK126087 (los ntawm Childhood CysticKab mob raumCore Center), US Department of VA muab nyiaj pub rau 1-I01-BX004232-01A2 (los ntawm Lub Chaw Haujlwm Saib Xyuas Kev Tshawb Fawb thiab Kev Txhim Kho, Kev Pabcuam Kev Kho Mob), thiab Detraz Endowed Research Fund inPolycystic Kidney Disease .
Kev Qhia Txog Nyiaj Txiag:
Dr. Mrug qhia txog tus nqi kev sab laj txog cov haujlwm no los ntawm Natera Inc. thiab tshaj tawm cov nyiaj pab thiab kev sab laj tus nqi sab nraum cov haujlwm xa los ntawm Otsuka Pharmaceuticals, Sanofi, Palladio Biosciences, Chinook, thiab Goldilocks Therapeutics. DrsBloom, Malhotra, Tabriziani, Gauthier, Billings, thiab AuthorsSeto, Sidlow, thiab McKanna yog cov neeg ua haujlwm thiab cov neeg tuav kev ncaj ncees ntawm Natera, Inc.
Peer Review:
Tau txais Lub Tsib Hlis 13, 2021. Kev soj ntsuam los ntawm 3 tus neeg saib xyuas sab nraud, nrog rau cov lus qhia ncaj qha los ntawm Tus Kws Tshaj Lij Tshaj Lij Tshaj Lij Tshaj Lij Tshaj Lij, tus Kws Tshaj Lij Tshaj Lij Tshaj Lij Tshaj Lij, thiab Tus Thawj Coj Tus Thawj Coj. Tau txais hauv daim ntawv kho dua Lub Yim Hli 16, 2021.
Los ntawm: 'Genetic Testing forMob raum mob: Kev Pabcuam Kev Pabcuam thiab Cov Teeb Meem Pom tau los ntawm Nephrologists 'los ntawmMichal Mug et al
---Raum Med Vol 3|Ib 6|Kaum Ib Hlis / Kaum Ob Hlis 2021
REFERENCES
1. Lub Chaw Tiv Thaiv thiab Tiv Thaiv Kab Mob.Mob raum mobHauv Tebchaws Meskas, 2019. Vol 2021. Nkag mus rau Lub Ib Hlis 20, 2021.https://www.cdc.gov/kidneydisease/pdf/201 9_National-Chronic-Kidney-Disease-Fact-Sheet.pdf
2. Bikbov B, Purcell CA, Levey AS, et al. Ntiaj teb no, lub regional, thiab lub teb chaws lub nra ntawmmob raum mob, 1990–2017: ib qho kev tshuaj ntsuam xyuas rau Lub Ntiaj Teb Burden of Disease Study 2017. Lancet. 2020; 395(10225):709-733.
3. Webster AC, Nagler EV, Morton RL, Masson P.Mob raum mob. Lancet. 2017;389(10075):1238-1252.
4. Connaughton DM, Kennedy C, Shril S, thiab al. Monogenic ua raumob raum mobnyob rau hauv cov neeg laus. Raum Int. 2019;95(4): 914-928.
5. Hays T, Groopman EE, Gharavi AG. Genetic testing raumob raumtsis paub etiology. Raum Int. 2020; 98(3):{3}}.
6. Vivante A, Skorecki K. Qhia txog kev kuaj caj ces niaj hnub rau cov neeg mob CKD(cmob raum mob). Nat Rev Nephrol. 2019;15(6):{3}}.
7. Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility ntawm exome sequencing raumob raum. N Engl J Med. 2019;380(2):142-151.
8. Cocchi E, Nestor JG, Gharavi AG. Clinical genetic screening nyob rau hauv cov neeg laus cov neeg mob nrogmob raum. Clin J Am Soc Nephrol. 2020; 15(10):1497-1510.
9. Tshuaj ABoI. Cov neeg sib tw Certified - Txhua tus neeg sib tw. Vol 20212020. Nkag mus rau Lub Ob Hlis 21, 2021. https://www.abim. org/about/statistics-data/candidates-certified.aspx.
10. Nadkarni GN, Horowitz CR. Genomics hauv CKD(cmob raum mob): Qhov no puas yog txoj hauv kev? Adv Chronic Kidney Dis. 2016; 23(2): 120-124.
11. Lata S, Marasa M, Li Y, et al. Tag nrho-exome sequencing nyob rau hauv cov neeg laus nrogmob raum mob: kev kawm pilot. Ann Intern Med. 2018;168(2):100-109.
12. Chebib FT, Perrone RD, Chapman AB, et al. Daim ntawv qhia tswv yim rau kev kho mob sai sai ADPKD nrog tolvaptan. J Am Soc Nephrol. 2018; 29(10):2458-2470.
13. Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM. Lub expanding phenotypic spectra ntawmkab mob raum:kev nkag siab los ntawm kev tshawb fawb genetic. Nat Rev Nephrol. 2016; 12(8):{3}}.
14. Slaats GG, Lilien MR, Giles RH. Nephronophthisis: Peb yuav tsum tsom hlwv lossis fibrosis? Pediatr Nephrol. 2016; 31(4): 545-554.
15. Bullich G, Domingo-Gallego A, Vargas I, et al. Ib lub raum-mob kab mob gene vaj huam sib luag tso cai rau kev kuaj kab mob dav dav ntawm cystic thiab glomerular inheritedkab mob raum. Raum Int. 2018; 94(2):{3}}.
16. Newton-Cheh C, Johnson T, Geneva V, et al. Genome-wide Association txoj kev tshawb fawb txheeb xyuas yim loci txuam nrog ntshav siab. Nat Genet. 2009; 41(6): 666-676.
17. Liu C., Kraja AT, Smith JA, et al. Meta-analysis txheeb xyuas qhov sib txawv thiab tsis tshua muaj tshwm sim cuam tshuam cov ntshav siab thiab sib tshooj nrog cov kab mob metabolic loci. Nat Genet. 2016; 48(10):{5}}.
18. Saxena R, Voight BF, Lyssenko V, et al. Genome-wide koom haum tsom xam txheeb xyuas loci rau hom 2 mob ntshav qab zib thiab qib triglyceride. Kev tshawb fawb. 2007; 316(5829): 1331-1336.
19. Voight BF, Scott LJ, Steinthorsdottir V, et al. Kaum ob hom 2 mob ntshav qab zib mellitus susceptibility loci txheeb xyuas los ntawm kev txheeb xyuas cov koom haum loj. Nat Genet. 2010; 42(7): 579-589.
20. Parsa A, Kao WH, Xie D, et al. APOL1 kev pheej hmoo sib txawv, haiv neeg, thiab kev vam meej ntawmmob raum mob.N Engl J Med. 2013; 369(23): 2183-2196.
21. Jayasinghe K, Quinlan C, Mallett AJ, et al. Kev coj cwj pwm thiab kev coj ua ntawm Australian nephrologists rau kev siv cov tshuaj genomics. Raum Int Rep. 2021;6(2):272-283.
22. Wetterstrand KA. DNA sequencing nqi: cov ntaub ntawv los ntawm NHGRI genome sequencing program (GSP). Vol 2021. Accessed March 25, 2021.www.genome.gov/sequencing cost data 23. Xue Y, Ankala A, Wilcox WR, Hegde MR. Kev daws qhov kev ntsuam xyuas molecular diagnostic conundrum rau Mendelian kab mob nyob rau hauv lub era ntawm lwm tiam sequencing: ib leeg-gene, noob vaj huam sib luag, los yog exome/genome sequencing. Genet Med. 2015; 17(6):{10}}.
24. Jayasinghe K, Stark Z, Kerr PG, et al. Kev soj ntsuam cuam tshuam ntawm kev kuaj genomic hauv cov neeg mob uas xav tias monogenicmob raum. Genet Med. 2021; 23(1): 183-191.
25. Haidle JL, Sternen DL, Dickerson JA, et al. Cov kws pab tswv yim txog noob caj noob ces txuag cov nqi thoob plaws hauv kev kuaj genetic spectrum. Am J Manag Care. 2017; 23(10 Spec No): SP428-SP430.
26. Spiech KM, Tripathy PR, Woodcock AM, et al. Kev siv lub raum precision tshuaj qhov kev pab cuam: kws kho mob tus cwj pwm thiab kev lees txais. Lub neej (Basel). Xyoo 2020; 10(4):32.
27. Thomas CP, Freese ME, Onda A, et al. Thawj qhov kev paub dhau los ntawm lub tsev kho mob raum caj ces pom tau tias muaj lub luag haujlwm sib txawv hauv kev tswj tus neeg mob. Genet Med. 2020; 22(6):{4}}.
