10 August 2023

Researchers are calling for genetic tests to be widely used in order to prevent bias against patients of African heritage.

Professor Nancy Cox of Vanderbilt University Medical Center in Nashville, Tennessee, USA, and colleagues explain that many African Americans undergo painful and expensive bone marrow biopsies due to low white cell counts – an indicator of a range of possible diseases.

However, about two-thirds of African Americans naturally have lower white cell counts than Europeans, because of genetic adaptations that reduce risk of malaria.

Professor Cox presented her latest findings on this subject at the International Congress of Genetics in Melbourne, Australia, from 16-21 July.

She says: “There was no ill will, no intent to do bad medicine, people just haven’t allowed for the diversity of humanity.”

This is likely to be a worldwide issue for Indigenous and ethnic groups, she added. Cox wants to see routine adoption of inexpensive genetic tests, to eliminate the bias caused by lab tests with reference levels derived mostly from white males.

She said: “I don’t even know what to call this kind of disparity. It’s not that these genetic variations are directly leading to disease, it is more a failure to understand the consequences of genetic diversity.”

“Fundamentally we need to understand that humans are diverse, and we need to develop reference ranges for tests that reflect our diversity.”

Professor Cox’s colleague Professor Alex Brown added: “Despite the increasingly central role of genomics in modern health care and biomedical research, the failure to understand diversity remains a key roadblock to ensuring all populations can benefit from what precision medicine could and should offer.”

Source:

Cox N (2023) “How heritability of everyday laboratory values leads to big health disparities.” Plenary Session 7, International Congress of Genetics, Melbourne, Australia, 16-21 July 2023.

Press release: https://www.eurekalert.org/news-releases/997030

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