5 takeaways:
➀ In Latin America, there’s no consistent identity for rare disease. Genomics researcher Gonzaga-Jauregui says some Latin American countries defer to European formulas. For example, Mexico defines a rare disease as affecting no more than five out of every 10,000 people. But other countries have no definition at all. About 2 million of the 10 million Mexican rare disease patients are Indigenous, Gonzaga-Jauregui said, and live in regions with little or no resources. Parents who might otherwise be working to support families become full-time caretakers, which deepens economic hardship. [Transcript | Video]
➁ Diagnoses take so much more time to achieve. Since researchers began using genomic sequencing to identify rare disease causes—around 2010, Gonzaga-Jauregui said—the amount of time needed to achieve a diagnosis has dropped to about five years in countries that use molecular diagnostics, including next-generation sequencing. But in Latin America, the average length of diagnosis is 10 years. “For many other patients, they can spend their whole lifetime, especially older patients, without having an accurate and final diagnosis,” she said.
➂ Newborn screening is lightyears away for some regions. As pilot projects for newborn screening begin to proliferate in Canada, the U.S. and the U.K., Gonzaga-Jauregui said patients and physicians in low- and middle-income countries simply don’t have it. The technology is too expensive, and there’s still not enough of a data baseline to help researchers interpret findings. What data exists globally focusing primarily on people of European descent? Gonzaga-Jauregui said that though they comprise just 16% of the world’s population, information in biobanks comes from an estimated 95.8% European cohort.
➃ On the African continent, lack of resources is a critical problem. Even one of the most developed, educated nations on the African continent is struggling with a lack of genomic capacity, said Zané Lombard, a researcher with the University of Witswatersrand. “In South Africa, if we look at the global recommendations for the number of medical geneticists, being between three and 10 genetic counselors per million population, we are falling very short of those numbers.” In Johannesburg’s lone genetics clinic, the majority of patients have a clinically suspected rare disease, but 92% remain undiagnosed, Lombard said. And the picture is even direr across the rest of the continent.
➄ The H3Africa Consortium aims to improve those statistics. The Human Heredity and Health (H3) Africa Consortium is a cross-continental endeavor launched by the African Society of Human Genetics and is supported by both the Nation Institutes of Health and the UK’s Wellcome Trust. Lombard, who is a principal investigator with the project, said the core goal is to produce African-led evidence-based research, and that African scientists are leading 50 projects throughout the continent so far. One project, led by Lombard and based in South Africa and the Democratic Republic of Congo, will genetically map the rare disease progression for patients with developmental delays, in order to improve diagnostic services in low-resource communities.
This program was sponsored by Fondation Ipsen. NPF is solely responsible for the content.
