In recent times, more and more doctors have started to use genetic testing to determine a patient’s risk of getting a disease or to diagnose an already pre-existing condition. A new study warns doctors about that genetic testing has the potential to lead to misdiagnoses because of a lack of diversity in the recent genetic research.
The study was recently published in the New England Journal of Medicine by a team of researchers from Harvard Medical School. The results of the research emphasize the need to include more diverse populations in genetic and genomic studies.This measure is required to maintain the accuracy of genetic testing, used by doctors to diagnose various diseases.
The researchers analyzed gene mutations which were previously linked to hypertrophic cardiomyopathy- a genetic heart condition- that tends to affect around one in 500 people. Scientists examined publicly available sequencing data, clinical records for patients tested for the disease and even information published in medical literature. They found that certain mutations were no longer causing the condition and thus were no concern, but doctors still used them to diagnose patients. They also found that these mutations, or variants, are especially prevalent in black people.
Their findings led the scientists to hypothesize that when the genetic studies were first performed, studies on which the current genetic testing is based on, the number of people of African descent who were tested was very small compared to those of European ancestry. The lack of black people in the healthy group of clinical trials had led to various cases where African-American had received false positive results when their doctors tested for the genetic heart condition.
After the researchers studied the records of a particular testing lab, they actually found seven people, all of African or unspecified ancestry, who received reports informing them that they have the disease or are at risk of developing it, because they had the mutation which is now considered benign.
According to Kenneth Offit, a specialist from the Memorial Sloan-Kettering Cancer Center:
“From the vantage point of one who sits on several federal advisory bodies in the field of genetics, the importance of more extensive genomic sequencing in diverse populations cannot be over-emphasized.”
The results should determine laboratories to include various groups of people when they are performing their genetic studies.
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