At best only 7% of the world’s population has access to genetic technologies. For everyone else, technologies such as next-generation sequencing and CRISPR gene editing are but science fiction experienced only in movies.
Yet almost all low-income countries and many middle-income countries, which harbour the largest burden of birth defects and genetic diseases, lack the necessary personnel, technology, infrastructure, and public and medical education capabilities needed to introduce medical genetics services.
Not anymore though, thanks to a revolutionary app called MiGene Family History App.
MiGene Family History App is an Android-based mobile application that aims to introduce medical genetics services into low and middle-income countries. It was developed in 2016 through a partnership between University of Michigan’s departments of paediatrics and of obstetrics and gynaecology, and St Paul’s Hospital Millennium Medical College in Ethiopia.
It was then programmed by xHub, a technology group in Ethiopia’s capital.
The app, which has already been piloted in St Paul’s Hospital and has since been rolled out to a teaching hospital in Ghana, is used by healthcare providers in gathering and storing patient demographic data and medical histories.
The app tracks the number of diagnosed (living and deceased) relatives, which establishes a three-generation lineage.
It generates personalised genetic counselling information that can be delivered to patients and their families. The data can also be used for epidemiologic analysis.
Having this data will help to inform future decisions taken by health officials. For instance, it can assess the success of interventions such as Ethiopia’s folic acid supplementation efforts, which were introduced as a strategy to decrease the incidence of birth defects of the brain, spine, or spinal cord.
The first version of the app focuses on paediatric birth defects and genetic diseases. These include heart malformations, Down Syndrome, and neural tube defects.
One of the most interesting findings the app was able to discover was that the incidence of birth defects and genetic diseases at St Paul’s was nearly identical to the incidence of birth defects and genetic diseases in previously studied children’s hospitals in high-income countries.
This confirmed something that geneticists have long known: genetic disease affects everyone and doesn’t discriminate. That’s why it’s important that the benefits of genetic technology are not limited to ‘Haves’ and citizens of rich countries in the west.
After the success of the pilot study in Ethiopia, MiGene Family History App has now been expanded to include adult-onset non-communicable diseases such as cancer, hypertension, diabetes, and cardiovascular disease.
It’s still in use at St Paul’s and is now also being used at Korle Bu Teaching Hospital in Accra, Ghana.