利用 MiGene 家族病史应用程序在埃塞俄比亚引入医学遗传学服务。

Introducing medical genetics services in Ethiopia using the MiGene Family History App.

机构信息

Department of Pediatrics and Communicable Diseases, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.

Department of Pediatrics and Child Health, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.

出版信息

Genet Med. 2019 Feb;21(2):451-458. doi: 10.1038/s41436-018-0069-6. Epub 2018 Jun 11.

DOI:10.1038/s41436-018-0069-6

PMID:29892089

Abstract

PURPOSE

Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia.

METHODS

A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period.

RESULTS

The majority of doctors provide genetics services, with only 16% reporting their genetics knowledge is sufficient. A total of 1699 patients from the pediatric ward (n = 367), neonatal intensive care unit (NICU) (n = 477), and antenatal clinic (n = 855) were collected using the MFHA with a 4% incidence of a MFHA-screened condition present. The incidence was 11.7% in the pediatric ward, 3% in the NICU, and 0.5% in the antenatal clinic. Heart malformations (5.5% of patients) and trisomy 21 (4.4% of patients) were the most common conditions in the pediatric ward.

CONCLUSION

Medical genetics services are needed in Ethiopia. As other countries increase their genetics capacity, the MFHA can provide fundamental genetics services and collect necessary epidemiologic data.

摘要

目的

几乎所有低收入国家和许多中等收入国家都缺乏提供医学遗传学服务的能力。我们开发了 MiGene 家族病史应用程序（MFHA），它可以帮助医生收集家族病史并进行人群水平的流行病学分析。该应用程序在埃塞俄比亚亚的斯亚贝巴的圣保罗医院进行了研究。

方法

我们进行了需求评估，以评估埃塞俄比亚医生在遗传学服务方面的经验。然后，MFHA 在 6 个月的时间里收集了患者数据。

结果

大多数医生提供遗传学服务，但只有 16%的医生表示他们的遗传学知识足够。使用 MFHA 共收集了儿科病房（n=367）、新生儿重症监护病房（NICU）（n=477）和产前诊所（n=855）的 1699 名患者，MFHA 筛查出的疾病发病率为 4%。儿科病房的发病率为 11.7%，NICU 为 3%，产前诊所为 0.5%。儿科病房最常见的疾病是心脏畸形（占患者的 5.5%）和 21 三体综合征（占患者的 4.4%）。