Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
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DOI：
10.1038/s41390-022-02240-3
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发表时间：
2023-01
影响因子：
3.6
通讯作者：
Fraiman, Yarden S.
中科院分区：
文献类型：
--
作者：
Wojcik, Monica H.;Bresnahan, Mairead;del Rosario, Maya C.;Ojeda, Mayra Martinez;Kritzer, Amy;Fraiman, Yarden S.
确定准确的基因诊断可以改善罕见疾病患者的预后，尽管这样做所需的资源可能会阻碍获取机会，并加剧导致不公平护理的医疗差距。因此，我们的目标是确定多种社会人口学因素对遗传学门诊患者诊断评估结果的影响。2017-2019年儿科学术三级护理中心门诊遗传学转诊的回顾性队列研究。暴露包括：主要语言、保险类型和社区资源(通过儿童机会指数，COI)。主要结果是在首次就诊后2年内确定了基因诊断。COI五分位数与诊断几率没有显著关联，但与临床就诊显著相关，社区资源较少导致不完全转诊。尽管年龄较大，但英语水平有限的人确诊的几率更高。公共保险与更多地获得基因检测有关。较低的社区资源与诊所就诊率负相关。我们的发现进一步表明，在英语水平有限的家庭中，护理延迟和转诊倾向于更严重的表型。为了提高诊断的公平性，需要更多地获得临床遗传学。
Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care. Our objective was therefore to determine the effect of multiple sociodemographic factors on the yield of the diagnostic evaluation for genetics outpatients. Retrospective cohort study from 2017–2019 of outpatient genetics referrals at a pediatric academic tertiary care center. Exposures included: primary language, insurance type, and neighborhood resources (via the Childhood Opportunity Index, COI). The primary outcome was identification of a genetic diagnosis within 2 years of the initial clinic visit. COI quintile was not significantly associated with the odds of diagnosis but was significantly associated with clinic attendance, with lower neighborhood resources leading to incomplete referrals. Limited English proficiency was associated with a higher odds of diagnosis, though at an older age. Public insurance was associated with increased access to genetic testing. Lower neighborhood resources are negatively associated with clinic attendance. Our findings further suggest delays in care and a referral bias for more severe phenotypes among families with limited English proficiency. Improved access to clinical genetics is needed to improve diagnostic equity.
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影响因子：
5.3
作者：
Monies D;Abouelhoda M;AlSayed M;Alhassnan Z;Alotaibi M;Kayyali H;Al-Owain M;Shah A;Rahbeeni Z;Al-Muhaizea MA;Alzaidan HI;Cupler E;Bohlega S;Faqeih E;Faden M;Alyounes B;Jaroudi D;Goljan E;Elbardisy H;Akilan A;Albar R;Aldhalaan H;Gulab S;Chedrawi A;Al Saud BK;Kurdi W;Makhseed N;Alqasim T;El Khashab HY;Al-Mousa H;Alhashem A;Kanaan I;Algoufi T;Alsaleem K;Basha TA;Al-Murshedi F;Khan S;Al-Kindy A;Alnemer M;Al-Hajjar S;Alyamani S;Aldhekri H;Al-Mehaidib A;Arnaout R;Dabbagh O;Shagrani M;Broering D;Tulbah M;Alqassmi A;Almugbel M;AlQuaiz M;Alsaman A;Al-Thihli K;Sulaiman RA;Al-Dekhail W;Alsaegh A;Bashiri FA;Qari A;Alhomadi S;Alkuraya H;Alsebayel M;Hamad MH;Szonyi L;Abaalkhail F;Al-Mayouf SM;Almojalli H;Alqadi KS;Elsiesy H;Shuaib TM;Seidahmed MZ;Abosoudah I;Akleh H;AlGhonaium A;Alkharfy TM;Al Mutairi F;Eyaid W;Alshanbary A;Sheikh FR;Alsohaibani FI;Alsonbul A;Al Tala S;Balkhy S;Bassiouni R;Alenizi AS;Hussein MH;Hassan S;Khalil M;Tabarki B;Alshahwan S;Oshi A;Sabr Y;Alsaadoun S;Salih MA;Mohamed S;Sultana H;Tamim A;El-Haj M;Alshahrani S;Bubshait DK;Alfadhel M;Faquih T;El-Kalioby M;Subhani S;Shah Z;Moghrabi N;Meyer BF;Alkuraya FS
通讯作者：
Alkuraya FS
2019年美国医学遗传学劳动力：关注临床遗传学。
DOI：
10.1038/s41436-021-01162-5
发表时间：
2021-08
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Jenkins BD;Fischer CG;Polito CA;Maiese DR;Keehn AS;Lyon M;Edick MJ;Taylor MRG;Andersson HC;Bodurtha JN;Blitzer MG;Muenke M;Watson MS
通讯作者：
Watson MS
影响因子：
3.6
作者：
Fraiman YS;Wojcik MH
通讯作者：
Wojcik MH
影响因子：
2.8
作者：
Walley NM;Pena LDM;Hooper SR;Cope H;Jiang YH;McConkie-Rosell A;Sanders C;Schoch K;Spillmann RC;Strong K;McCray AT;Mazur P;Esteves C;LeBlanc K;Undiagnosed Diseases Network;Wise AL;Shashi V
通讯作者：
Shashi V
影响因子：
24
作者：
Landry, Latrice G.;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.