Pediatrician using technology to expand genetic counseling to Ethiopia, Ghana
A U-M Medical School pediatrician is working to bring much-needed basic genetic counseling services to sub-Saharan Africa.
Clinical Assistant Professor of Pediatrics Shane Quinonez, M.D., has developed a software application for health workers in Ethiopia to provide genetic counseling to patients, including expecting couples. The app also collects and stores incidence data that could help health care leaders identify epidemiological trends in genetic diseases and birth defects.
“As developing countries improve their ability to treat communicable diseases, they turn their focus to non-communicable diseases, especially those that effect children,” said Quinonez. “As a pediatrician, I’ve seen the good that genetic services can do. The question is how to deliver those services in a place where almost none of the pediatricians have expertise in genomics.”
To address this question, Quinonez turned to technology. Working with St. Paul’s Hospital Millennium Medical College, UMMS’ longtime institutional partner school in Addis Ababa, he developed and launched the MiGene Family History software app in the summer of 2016. To build the app, Quinonez enlisted the help of Ethiopian computer engineering students who are part of a tech outfit, xHub, that connects young Ethiopian programmers with projects that incorporate a community service element.
“It’s a group that really aims to bring technology and tech skills to Ethiopia. Working with them has been one of the most rewarding aspects of the project, one that I never imagined going in,” Quinonez said.
The app prompts health workers through inquiries about patients’ personal and family histories, including common conditions like neural tube defects, Trisomy 21, cleft palate, heart defects and more. Following the five-minute survey, the app produces personalized counseling and management information based on the responses — info aimed at facilitating better care and, when applicable, reducing recurrence risk.
In addition to training about a dozen St. Paul pediatricians and maternal-fetal medicine specialists to use the app, Quinonez is working with two St. Paul nurses assigned to the project who collect data from as many patients as possible. Since early this year, they have collected genetic family history information on more than 1,000 patients, data which is stored for future epidemiological study.
“As the Ministry of Health thinks about broad efforts to reduce birth defects and genetic disease incidence, step one is to identify baseline data so they can determine whether any future intervention actually works or not,” Quinonez said.
A little more than one year after launching in Ethiopia, MiGene is now poised to expand to Ghana. Quinonez earlier this year garnered a Global REACH Partnership Development grant to explore introducing a revised version of the app to colleagues at the University of Ghana, in Accra. That project, with University of Ghana nephrologist Charlotte Osafo, will involve updating and expanding the application to capture information about adult-onset non-communicable diseases, from chronic kidney, heart, and pulmonary diseases to mental health disorders.
“It’s very exciting. As we add more features and move into other areas, I’d love it if other people or groups used the idea and built on it,” Quinonez said. “I don’t own the project. I’d be thrilled to have people adapt to their own populations.”
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