The field of genetics is under threat

The African Genome of Diseases: The Lyfe Languages Initiative and the Need for Diagnosis of HIV/AIDS in High-Income Settings

It can take decades before pay-offs are realized, which has made it difficult to convince political leaders in Africa to invest in genomics. The fact that most evidence for the benefits of genomics comes from research on European-ancestry populations in high-income settings also makes it harder for scientists to convince African governments that genomics could help their own people.

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.) Polygenic risk scores are much more accurate for people of European ancestry than they are for others, due to this bias.

There is an unprecedented degree of collaboration between researchers on the African continent and with their counterparts in other countries. It achieved this partly by requiring that funded African researchers collaborate with other African scientists. The 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 during the COVID-19 epidemic. (ACEGID, established in 2014, has received around 30% of its funding from H3Africa.)

Engagement with research participants should be tailored to each culture and language of the people in the research. Some 2,000 languages are spoken in Africa, representing a significant barrier to communication. The Lyfe Languages initiative, a project developed in Western Australia to help overcome a barrier between Aboriginal people and health-care providers, offers one model for how this might be achieved. In genetics research, terms are often used in Indigenous-language translations.

Source: https://www.nature.com/articles/d41586-023-00222-x

Getting More Health Benefits for the African Population and Health Research Center: So Paulo, Kenya, Founded in 1997 by X. Fastidiosa

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). This is caused by a mutation in a gene on chromosome 168,9. So far, all cases of HDL2 have been found in people with African ancestry. It is suggested that people who have Huntington’s disease symptoms but aren’t carriers of the chromosomal 4 glitch should be tested.

A funding award is an encouraging sign. The African Population and Health Research Center in Nairobi received funding from Wellcome to collaborate with the Africa Health Research Institute in South Africa. It will collate health-surveillance data and biospecimens to provide a resource for large-scale population studies.

Matched funding schemes, whereby funds are provided by a donor on a condition that the receiver also contributes resources, could help to shift trends in Africa 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, the most extensive medical genetics service in Africa, both these numbers are less than 0.2. And ref. 15).

A buzz was created within the SoPaul community by the X. fastidiosa work. That was important, says the National Laboratory for Embryonic Stem Cell Research director at the University of So Paulo. “The greatest impact was in making these tools more available — not just sequencing but also molecular biology.”

Some of Setubal and Palacios’ original ideals were taken off because of funding and politics. Palacios says that even if he could find the money for a one-off biotech moonshot project like he did in the early 2000s, without continued government investment, Mexico’s biotech community is at risk of floundering. Nor does Brazil have enough professorships and other permanent positions to keep its best and brightest researchers in the country, say Reinach and Setubal, and job opportunities and more lucrative funding elsewhere in the world have made it hard to keep the talent that they train. It’s one of the reasons Gutierrez-Arcelus says she has remained in Boston rather than returning home.

Still, by the early 2000s, no one had attempted to sequence the organism. Palacios and his colleague Guillermo Dávila, a genomics researcher at UNAM, proposed the project to Mexico’s National Council of Science and Technology (CONACYT), Mexico’s equivalent of the US National Science Foundation, and in 2004, received a $2 million grant. Genomics laboratories across Mexico with appropriate expertise could apply to receive a state-of-the-art DNA sequencer with no restrictions on how it was to be used. A certain number of bases of the R etli genome would be paid for by the scientists.

The bacterium causes citrus variegated chlorosis, a disease that has infected more than 100 million citrus trees in Brazil since 1987. Scientists had begun to fight human-associatedbacteria, but no one had yet made a discovery about the plant pathogen. Previous work had shown that X. fastidiosa had a genome of 2.7 million base pairs. It was placed in the Goldilocks zone, meaning it can be difficult for scientists, but small enough to be manageable.

R. etli: Partitioning the genome to solve a cral lentiginous melanoma

The fact that a group of Brazilian scientists were able to organize the project, carry it out according to plan, and publish their results in one of the best scientific journals in the world is a simple fact.

After six years, he was selected to co-lead the Nitrogen Fixation Research Center at UNAM. The institute’s immediate goal was to learn more about Rhizobium. 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 now focuses on a type of melanoma that has long been overlooked by US and European scientists. In people who are European, acral lentiginous melanoma only accounts for a fraction of cases, but it is more common among darker-skinned individuals in Mexico. She has access to patient samples due to the cancer being common in the area. She has also teamed up with scientists at the Karolinska Institute in Stockholm.