Among various things that unite humans around the world, the DNA sequence hovers at the top: a whopping 99.9% of human DNA sequences are identical among people.
To understand that, we have to shift our focus to the 0.1% of the difference in the human DNA sequences. The seemingly small difference stems from variations among the nearly 3 billion bases (or nitrogen-based compounds) in our DNA.
Sarah Tishkoff, a geneticist and evolutionary biologist at the University of Pennsylvania in the US, is one of many in the scientific community pushing for more diverse genomic datasets
We know from experience that this prediction of disease risk doesn’t work well when applied to individuals with different ancestries, particularly if they have African ancestry.
Historically, the people who have provided their DNA for genomics research have been overwhelmingly of European ancestry, “which creates gaps in knowledge about the genomes from people in the rest of the world,” according to the National Human Genome Research Institute in the US.
The institute states that 87% of all the genome data we have is from individuals of European ancestry, followed by 10% of Asian and 2% of African ancestry.
As a result, the potential benefits of genetic research, which includes understanding early diagnoses and treatment of various diseases, may not benefit the underrepresented populations
The problem does not stop with disease risk assessment. It permeates the space of equitable health care as well, says a professor from the Graduate School of Biological Sciences at the Cold Spring Harbor Laboratory in the US state of New York
By including diverse populations in genomic studies, researchers can identify genomic variants associated with various health outcomes at both the individual and population levels.
By including diverse populations in genomic studies, researchers can identify genomic variants associated with various health outcomes at both the individual and population levels
“Say you have two groups: group A and group B, who are very different. The knowledge and information you learn about people in group A may not apply to people in group B. But imagine developing medical treatments based on information from just group A for everyone,” he said, adding, “it is not going to work on group B.”
Many of us have had the experience of filling out forms at the doctor’s office that ask us about the different diseases our parents or relatives suffered. You are warned to stay away from sweets and processed sugars if a parent was diabetic, for example.
The problem does not stop with disease risk assessment. It permeates the space of equitable health care as well, says a professor from the Graduate School of Biological Sciences at the Cold Spring Harbor Laboratory in the US state of New York
By including diverse populations in genomic studies, researchers can identify genomic variants associated with various health outcomes at both the individual and population group A and group B, who are very different. The knowledge and information you learn about people in group A may not apply to people in group B. But imagine developing medical treatments based on information from just group A for everyone, he said, adding, it is not going to work on group B.
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