Private and Public Collaborations in Genome-Wide Association Studies: How Scientific Innovation and Languages Can Overcome the Barrier Between Aboriginal Populations and Health Care Providers
Private and public partnerships have already been demonstrated. For instance, a genomics centre was established in 2018 in Cape Town, South Africa, thanks to a partnership between the Chinese genomics company BGI Group and the South African Medical Research Council. It was one of the facilities used to detect Omicron SARS-CoV-2 variants in South Africa’s wastewater using high-throughput sequencing. Similarly, in 2021, the Illumina and Genetic Alliance, a non-profit organization that advocates research on rare diseases, launched the iHope Genetic Health programme. More than one third of the money going to Africa is intended to expand global access to whole-genome sequencing. But such alliances need to be much more widespread.
As of 2021, nearly 86% of participants in genome-wide association studies (GWAS) worldwide were of European descent, even though that group makes up only 16% of the world’s population4. (Such studies screen the genomes of thousands of people to establish whether a particular genetic variant is associated with a trait of interest.) This bias means that precision-medicine tools, such as polygenic risk scores — which use genetic data to predict a person’s risk of developing a certain disease — are much more accurate for people of European ancestry5.
A degree of scientific collaboration between researchers is unprecedented because of H3Africa. Funded researchers have to work with other African scientists. During the COVID-19 pandemic, for example, researchers at the African Centre of Excellence for Genomics of Infectious Diseases (ACEGID) in Ede, Nigeria, trained more than 1,300 geneticists, public-health workers and officials from other African countries in diagnostics, next-generation sequencing and bioinformatics. (ACEGID, established in 2014, has received around 30% of its funding from H3Africa.)
To ensure that research is shaped according to the priorities of people living in Africa, engagement with research participants must also be tailored to specific cultures and languages. Some 2,000 languages are spoken in Africa, representing a significant barrier to communication. A model for how the problem of barrier between Aboriginal people and health care providers can be overcome is provided by the Lyfe Languages initiative. The project provides Indigenous-language translations of terms often used in clinical-genetics research20.
Source: https://www.nature.com/articles/d41586-023-00222-x
The Africa Health Cohort Consortium (African Population and Health Research Center) and its Mission: Towards Responsible Participation of Industry for the Study of Huntington’s Disease
In other areas, the health benefits are farther away. Examples include treatment of common, non-infectious conditions (such as diabetes), largely because of a lack of data, and the treatment of rare diseases, largely because of a lack of genomic medicine services. However, it is becoming clearer what needs to happen next.
As an example, throughout the world, a mutation in a gene on chromosome 4 is used to diagnose Huntington’s disease. However, another form of the disease exists that is clinically indistinguishable, called Huntington’s disease-like 2 (HDL2). The cause of this is a change in the genes on chromosomes 169 and 9. So far, all cases of HDL2 have been found in people with African ancestry. If you have Huntington’s disease symptoms, but don’t have the chromosomes 4 or 16 defects, you should be tested for them.
One encouraging sign is a funding award to help establish the African Population Cohort Consortium. Last year, the African Population and Health Research Center in Nairobi received funding from Wellcome to develop and co-lead this consortium with the Africa Health Research Institute in Durban, South Africa. The health-surveillance data will be compiled in order to provide a resource for large-scale population studies.
Matched funding schemes, whereby funds are provided by a donor on the condition that the receiver also contributes resources (similar to those implemented by the UK Newton Fund in selected African, Asian and South American countries), could help to shift trends in Africa away from over-reliance on donorship.
The responsible engagement of industry — based on principles of African ownership, and the equitable distribution of credit and benefits — could help to resolve crucial needs, such as the lack of maintenance staff for sequencing machines, affordable reagents and reliable supply chains.
Electronic health records and genetic services. In the United States, there are 2 medical geneticists and 7 genetic counsellors for every 500,000 people14. In South Africa, which offers the most extensive medical genetics services in Africa, both these numbers are less than 0.2 (see go.nature.com/3yjoxpk And ref. 15).
What is going on in So Paulo, Mexico? A case study of a pathogen that causes citrus variegated chlorosis
After completing his PhD at UNAM in 1970, Palacios began a postdoctoral fellowship at Stanford University in California. Working abroad was a rite of passage for many Mexican scientists at the time, and his stint at Stanford opened his eyes to what scientists could accomplish with the right support. In 1974, Palacios returned to Mexico to dedicate his career not just to genomics, but also to improving his country’s scientific infrastructure “to help mould the people that would be the future leaders of genomic sciences in Mexico”.
“In many cases, the priorities of a project are set by the countries who are leading it,” says Robles-Espinoza. Mexican scientists working with other scientists around the world didn’t set the agenda, nor were they receiving investments in training and infrastructure. It was important to see that you can be more involved in what others are doing.
The country had geneticists and bioinformaticians, but most of them trained abroad and in many cases stayed there. People who returned collaborated on other people’s projects instead of leading their own. A desire to prove his country’s scientific prowess on the global stage spurred Reinach to invite more than 200 scientists from across So Paulo in 1997 to participate in the analysis of a bacterium.
The bacterium causes citrus variegated chlorosis, a disease that has infected more than 100 million citrus trees in Brazil since 1987. It wasn’t until scientists tackled human-associated bacteria that no one had yet figured out how to make a plant pathogen. The genome of the alien had a number of millions of base pairs. It had been placed in the goldilocks zone, that is, enough genetic diversity to challenge scientists but small enough to be manageable.
Source: https://www.nature.com/articles/d41586-023-00794-8
R. etli was partitioned onto plasmids for genetic and metabolic flexibility, and a case study of acral lentiginous skin cancer
A group of scientists from Brazil were able to carry out a project according to plan, publish their results in a prestigious journal, and it was a feat that was almost never done in the past.
Six years later, he was tapped to co-lead UNAM’s Nitrogen Fixation Research Center in Cuernavaca. The institute wanted to find out more about rhybium. In 2000, Palacios’ team learnt that the R. etli genome was segmented, with one-third sitting on six large circular DNA molecules called plasmids4. This partitioning, Palacios and his colleagues reasoned, provided genetic and metabolic flexibility that enabled the species to survive a range of challenging environments.
Her work focuses on a type of skin cancer that has been overlooked by US and European scientists. Known as acral lentiginous melanoma, the cancer comprises only a few percent of melanoma cases in people of European descent but is much more common in darker-skinned populations, including those in Mexico. She has ready access to patient samples, since the cancer is common in the area. She has also teamed up with scientists at the Karolinska Institute in Stockholm.