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.
A needs assessment was used to assess Ethiopian physicians’ experience with genetics services. The MFHA then collected patient data over a 6-month period.
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.
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.
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Murray CJL, Lopez AD. Measuring the global burden of disease. N Engl J Med. 2013;369:448–57.
Hunter DJ, Reddy KS. Noncommunicable diseases. N Engl J Med. 2013;369:1336–43.
World Health Organization. The global burden of disease: 2004 update. 2008. http://www.who.int/healthinfo/global_burden_disease/2004_report_update/en/.Accessed 23 January 2018
March of Dimes. March of Dimes global report on birth defects. January 2006:1-76. https://www.marchofdimes.org/mission/march-of-dimes-global-report-on-birth-defects.aspx.Accessed 23 January 2018
GBD 2015 Child Mortality Collaborators. Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015. Lancet. 2016;388:1725–74.
The Global Burden of Disease Child and Adolescent Health Collaboration, Kassebaum N, Kyu HH, et al. Child and Adolescent Health From 1990 to 2015. JAMA Pediatr . 2017;171:573–20.
Christianson A, Modell B. Medical genetics in developing countries. Annu Rev Genom Hum Genet . 2004;5:219–65.
Sadee W, Hartmann K, Seweryn M, et al. Missing heritability of common diseases and treatments outside the protein-coding exome. Hum Genet. 2014;133:1199–215.
Tekola-Ayele F, Rotimi CN. Translational genomics in low- and middle-income countries: opportunities and challenges. Public Health Genomics. 2015;18:1–6.
Kingsmore SF, Lantos JD, Dinwiddie DL. Next-generation community genetics for low- and middle-income countries. Genome Med. 2012;4:25–33.
World Health Organization. Community genetics services: report of a WHO consultation on community genetics in low-and middle-income countries. 2011. https://apps.who.int/iris/handle/10665/44532. Accessed 23 January 2018
Wonkam A, Tekendo CN, Sama DJ, et al. Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon. Eur J Med Genet. 2011;54:e399–e404.
Makani J, Soka D, Rwezaula S, et al. Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under-five mortality. Trop Med Int Health. 2015;20:184–7.
Grosse SD, Atrash HK, Odame I, et al. The Jamaican historical experience of the impact of educational interventions on sickle cell disease child mortality. Am J Prev Med. 2012;42:e101–e103.
Galadanci N, Wudil BJ, Balogun TM, et al. Current sickle cell disease management practices in Nigeria. Int Health. 2014;6:23–28.
Arrayed AlS. Campaign to control genetic blood diseases in Bahrain. Community Genet. 2005;8:52–55.
Samavat A, Modell B. Iranian national thalassaemia screening programme. BMJ. 2004;329:1134–7.
Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet. 1981;1:369–71.
The World Bank. 2016. Ethiopia—population and housing census 2007—IPUMS subset. http://microdata.worldbank.org/index.php/catalog/2747 Accessed 24 February 2018.
The World Bank. 2016. Ethiopia. https://data.worldbank.org/country/ethiopia Accessed 24 February 2018.
Tadesse L, Tafesse F, Hamamy H. Communities and community genetics in Ethiopia. Pan Afr Med J. 2014;18:115.
Wang C, Bickmore T, Bowen DJ, et al. Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories. Genet Med. 2015;17:822–30.
McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet. 2004;74:121–7.
Walker CE, Mahede T, Davis G, et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19:546–52.
Colvin L, Bower C. A retrospective population-based study of childhood hospital admissions with record linkage to a birth defects registry. BMC Pediatr . 2009;9:32.
Hall JG, Powers EK, Mcllvaine RT, et al. The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet . 1978;1:417–36.
Carnevale A, Hernández M, Reyes R, et al. The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City. Am J Med Genet. 1985;20:665–75.
FitzPatrick DR, Skeoch CH, Tolmie JL. Genetic aspects of admissions to a paediatric intensive care unit. Arch Dis Child. 1991;66:639–41.
Yoon PW, Olney RS, Khoury MJ, et al. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med. 1997;151:1096–103.
Ling EW, Sosuan LC, Hall JC. Congenital anomalies: an increasingly important cause of mortality and workload in a neonatal intensive care unit. Am J Perinatol . 1991;8:164–9.
Scriver CR, Neal JL, Saginur R, et al. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J . 1973;108:1111–5.
Piel FB, Hay SI, Gupta S, et al. Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions. PLoS Med. 2013;10:e1001484.
He LQ, Njambi L, Nyamori JM, et al. Developing clinical cancer genetics services in resource-limited countries: the case of retinoblastoma in Kenya. Public Health Genomics. 2014;17:221–7.
Core Competency Working Group of the National Coalition for Health Professional Education in Genetics. Recommendations of core competencies in genetics essential for all health professionals. Genet Med. 2001;3:155–9.
Ruffin MT, Nease DE, Sen A, et al. Effect of preventive messages tailored to family history on health behaviors: the Family Healthware Impact Trial. Ann Fam Med. 2011;9:3–11.
Kahn LB, Marshall JA, Baxter J, et al. Accuracy of reported family history of diabetes mellitus: results from San Luis Valley Diabetes Study. Diabetes Care. 1990;13:796–8.
Wu RR, Myers RA, Hauser ER, et al. Impact of genetic testing and family health history based risk counseling on behavior change and cognitive precursors for type 2 diabetes. J Genet Couns. 2017;26:133–40.
Hariri S, Yoon PW, Qureshi N, et al. Family history of type 2 diabetes: a population-based screening tool for prevention? Genet Med. 2006;8:102–8.
This work was funded by grants from the University of Michigan Department of Pediatrics including the Intramural Research Funding Program (Benz Birth Defects Research Award) and the Percy and Mary Murphy Children’s Research Fund.
The authors declare no conflicts of interest.