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专科医生对单基因疾病植入前基因检测的转诊行为:是否有增长空间?

Specialist physicians' referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?

作者信息

Capelouto Sarah, Evans Melanie, Shannon Jennifer, Jetelina Katelyn, Bukulmez Orhan, Carr Bruce

机构信息

University of Texas Southwestern Medical Center, Department of Obstetrics and Gynecology, Dallas, Texas.

University of Texas Southwestern Medical Center, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Dallas, Texas.

出版信息

F S Rep. 2021 Mar 11;2(2):215-223. doi: 10.1016/j.xfre.2021.03.002. eCollection 2021 Jun.

DOI:10.1016/j.xfre.2021.03.002
PMID:34278357
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8267388/
Abstract

OBJECTIVE

To assess whether primary care specialists' demographics, specialty, and knowledge of preimplantation genetic testing for monogenic disorders (PGT-M) influence their practice patterns.

DESIGN

Cross-sectional survey study.

SETTING

Academic medical center.

PATIENTS

Not applicable.

INTERVENTIONS

None.

MAIN OUTCOME MEASURES

Objective PGT-M knowledge, subjective comfort with PGT-related topics, PGT care practices (discussions/referrals), and PGT-M implementation barriers.

RESULTS

Our survey had 145 respondents: 65 obstetrician/gynecologists, 36 internists, and 44 pediatricians. Overall, 88% believed that patients at a risk of passing on genetic disorders should be provided PGT-M information. However, few discussed PGT-M with their patients (24%) or referred them for testing (23%). Over half (63%) believed that the lack of physician knowledge was a barrier to PGT use. In terms of subjective comfort with PGT, only 1 in 5 physicians felt familiar enough with the topic to answer patient questions. There were higher odds of discussing (odds ratio, 3.21; 95% confidence interval, 1.75-5.87) or referring for PGT (odds ratio, 2.52; 95% confidence interval, 1.41-4.51) for each additional 0.5 correct answers to PGT knowledge-related questions. The odds of referring patients for PGT-M were the highest among obstetrician/gynecologists compared with those among the internists and pediatricians.

CONCLUSIONS

Physician specialty and PGT knowledge were associated with PGT-M care delivery practices. Although most specialists believed in equipping at-risk patients with PGT-M information, <1 in 4 discussed or referred patients for PGT. The low levels of PGT-related care among providers may be owed to inadequate knowledge of and comfort with the topic. An opportunity to promote greater understanding of PGT-M among primary care specialists exists and can in turn improve the use of referrals to PGT-M services.

摘要

目的

评估初级保健专科医生的人口统计学特征、专业以及对单基因疾病植入前基因检测(PGT-M)的了解程度是否会影响他们的执业模式。

设计

横断面调查研究。

地点

学术医疗中心。

患者

不适用。

干预措施

无。

主要观察指标

客观的PGT-M知识、对PGT相关主题的主观舒适度、PGT护理实践(讨论/转诊)以及PGT-M实施障碍。

结果

我们的调查有145名受访者:65名妇产科医生、36名内科医生和44名儿科医生。总体而言,88%的人认为应该向有遗传疾病传递风险的患者提供PGT-M信息。然而,很少有人与患者讨论PGT-M(24%)或将他们转诊进行检测(23%)。超过一半(63%)的人认为医生知识的缺乏是PGT应用的障碍。在对PGT的主观舒适度方面,只有五分之一的医生觉得对该主题足够熟悉,能够回答患者的问题。对于PGT知识相关问题,每多答对0.5个答案,讨论(优势比,3.21;95%置信区间,1.75 - 5.87)或转诊进行PGT(优势比,2.52;95%置信区间,1.41 - 4.51)的几率就更高。与内科医生和儿科医生相比,妇产科医生将患者转诊进行PGT-M的几率最高。

结论

医生专业和PGT知识与PGT-M护理提供实践相关。尽管大多数专科医生认为应该为有风险的患者提供PGT-M信息,但不到四分之一的人会与患者讨论或转诊患者进行PGT。提供者中PGT相关护理水平较低可能是由于对该主题的知识不足和舒适度不够。存在促进初级保健专科医生对PGT-M有更深入了解的机会,这反过来可以改善PGT-M服务转诊的使用情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7739/8267388/e13f15798105/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7739/8267388/e13f15798105/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7739/8267388/e13f15798105/gr1.jpg

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本文引用的文献

1
Utilization of preimplantation genetic testing for monogenic disorders.单基因疾病的胚胎植入前遗传学检测的应用。
Fertil Steril. 2020 Oct;114(4):854-860. doi: 10.1016/j.fertnstert.2020.05.045.
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The status of preimplantation genetic testing in the UK and USA.英国和美国的着床前遗传学检测现状。
Hum Reprod. 2020 Apr 28;35(4):986-998. doi: 10.1093/humrep/deaa034.
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Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature.一般人群中个体和夫妇对扩展携带者筛查的兴趣:文献系统评价。
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Women's health providers' perspectives on preimplantation genetic testing.女性健康提供者对胚胎植入前遗传学检测的看法。
Reprod Biomed Online. 2019 Sep;39(3):530-537. doi: 10.1016/j.rbmo.2019.05.005. Epub 2019 May 11.
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Preimplantation Genetic Testing: Its Evolution, Where Are We Today?植入前基因检测:其发展历程,我们如今处于何方?
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