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The majority of human genetics research has focused on people of European descent, leaving a gaping hole in our understanding of human disease and potential treatments, according to health experts.
Although it is a well-documented problem in medical research, genetic studies continue to under-represent ethnically diverse populations, according to the commentary published in the journal Cell Today.
In 2018, 78% of individuals included in genome-wide studies looking for genetic variations badociated with a disease were European.
Only 10% of people were Asian, 2% African and 1% Hispanic and all other ethnic groups were represented by less than 1% of people.
The importance of the genetic difference between human populations is very small, but it is enough for only one variant or genetic mutation to increase or decrease the risk of contracting the disease, said the epidemiologist. Scott Williams of Case Western University, author of the commentary.
Thus, while scientists have broadened their understanding of the genetics of human diseases, the knowledge gained mainly from European studies is not always applicable to other populations, said Professor Williams.
"We may be misinformed about effective treatments and how to predict who might contract certain diseases," he said.
Lack of diversity affects medical treatments
By excluding diverse ethnic groups in genetic studies of diseases, translating genetic research into practice and policy could be "dangerously inadequate" for much of the world's population, Professor Williams said.
Cystic fibrosis is a disease that is treated differently depending on the genetic mutations of a person.
The gene mutation that accounts for 70% of cases of cystic fibrosis in Europeans represents only 29% of cases among people of African descent, likely to have a more rare mutation.
"If you only badyze current mutations among Europeans and not mutations among minorities, you will have poor health care outcomes," Williams said.
Cystic fibrosis is often underdiagnosed in African populations because it is less common, and clinicians do not seek it, which can further aggravate health inequalities.
Genetic variation can also affect the effectiveness or the harmfulness of a drug.
The most commonly prescribed dosage of blood thinner, warfarin, was adjusted based on the three gene test.
"These genes can help determine a reasonable proportion of dosage for Europeans, but they have only been studied by Europeans," said Professor Williams.
"If you used this genetic test [for warfarin dosing] in a person of African descent, you can administer a dose that is too high or too low, both of which have very serious consequences. "
The growing diversity of genetic studies could benefit everyone, not just minority groups who are not well represented at present.
In Texas, a genetic study of Hispanic and Afro-American populations revealed genetic variation affecting the transport of cholesterol and thus heart disease.
"This genetic variation is almost non-existent in Europeans, but there is now a drug on the market that everyone can use to reduce the risk of cardiovascular disease," said Professor Williams.
This drug would not exist if the researchers had not studied a non-European population.
Health gap among Aboriginal people
The study of diverse populations is essential in multicultural societies such as Australia, according to geneticist Misty Jenkins of the National Center for Indigenous Genomics, who did not participate in the commentary.
"Future health equity [in Australia] requires us to consider the medical implications of the diversity of the ancestors of the population, "said Dr. Jenkins.
"The most important, in this context, is the inclusion of Aboriginal and Torres Strait Islander peoples, who collectively have the worst health of all groups of Australians.
"If Aboriginal peoples and Torres Strait Islanders are not included in these processes at all levels, the health gap will widen rather than draw closer."
Professor Williams and his colleagues have recognized that recruiting diverse populations can be difficult, often because of mistrust of medical research resulting from past exploitation, which, according to Dr. Jenkins , certainly was the case for the Aboriginal and Torres Strait Islander communities.
"Building trust and progress at the pace of trust are essential conditions for success," she said.
"The approaches developed for Western populations can not simply be expanded."
According to medical anthropologist Emma Kowal of Deakin University, the gap between genetic health services and the health of indigenous peoples is twofold.
"One part is about equal access to effective treatments that non-indigenous Australians already enjoy," said Professor Kowal.
"At present, it can take years to diagnose because in different populations, different genes may be badociated with a disease.
"Diagnosis and treatment will become available to Aboriginal families once genetic variation data resembling that of their community is available."
Professor Kowal said the second problem was how new medical treatments would be useful to indigenous peoples if they were not represented in genetic studies.
"In the near future, gene sequencing will be part of routine clinical care," she said.
"The proposed new treatments will simply not serve Aboriginal communities and, as a result, the gaps could widen."
However, Dr. Jenkins said that groups such as the National Aboriginal Genomics Center are working to ensure that Aboriginal peoples are not left behind.
"Australia has the national responsibility to put indigenous peoples at the center of these developments," she said.
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