Dr. Karsten Suhre
Doha: Researchers at Weill Cornell Medicine-Qatar (WCM-Q) have analysed vast amounts of genetic and protein-related data to determine the effectiveness of genetics-based personalised medicine for Arabs.
While personalised medicine holds huge potential for assessing disease risk for individuals, a weakness of the science is its reliance on genetic data that have been drawn largely from populations with European/Caucasian ancestry.
This is because physicians use large, population-wide genetic datasets to identify genes associated with diseases, which they then compare with the genetic information of individuals.
This information is then combined with other factors, such as environment and lifestyle, to generate a ‘polygenic risk score’ for chronic conditions such as heart disease, cancer and dementia, which can then guide how healthcare is administered. But natural genetic variability between ethnic groups means that identification of genetic-based disease is more difficult for individuals whose ethnicity differs from that of the majority of individuals in the dataset.
Researchers at WCM-Q, led by Dr. Karsten Suhre, set out to quantify the disparity in accuracy of polygenic scores between populations of European and Arab ancestry. Dr. Suhre, professor of physiology and biophysics/director of bioinformatics core at WCM-Q said: “We are lucky to have good quality genetic data from a large number of people, but the level of ethnic diversity in these datasets is quite low and very much focused on populations with European ancestry - this poses challenges for personalised medicine in understudied populations. We therefore wanted to be able to determine accurately how much or how little confidence we can have in polygenic risk scores generated for Arabs from comparisons made with genomic data gathered mainly from Caucasian populations.”
To make the comparison, the researchers analysed 2,935 blood samples from individuals of Arabic ancestry, stored in Qatar Biobank, to examine their genomes and the genetic architecture of a set of 1,301 proteins known to be associated with numerous diseases. Proteins are considered a useful target for investigation because they are intermediate traits that link genetic predisposition and environmental factors to disease.
The process is known as a ‘genome-wide association study’ because it analyses the entire genome of each individual, which comprises all of the data from every one of their genes.
