Genome-wide association studies have been instrumental in identifying mutations that predispose individuals to cancer, allowing for characterization of diseases, and the development of therapeutics tailored to individuals. However, most of these studies focus on European populations. This sample bias will have profound implications on those with the highest disease burden. Therefore, future studies should target diverse populations to understand the basis of diseases and reduce health disparities.
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NHLBI’s TOPMed Program
Over the past couple of years, NHLBI’s Trans-Omics for Precision Medicine (TOPMed) program has worked toward continuously releasing genomic data. Since then, TOPMed has expanded its database, adding over 8,000 genomes. Additionally, TOPMed made the data available not only to their investigators but to other researchers as well.
This period could be pivotal for precision medicine. The accessibility and availability of the data to researchers could help address ongoing issues related to health disparities. Therefore, there are greater efforts directed at identifying diagnostic methods and treatment options, especially for cardiopulmonary diseases.
TOPMed Imputation Server
Genotype imputation is a key component of genome-wide association studies. NHLBI has a TOPMed Imputation Server, a free service that compares imputed genetic data to whole genomes (reference panels).
Researchers can use genomic sequences from individuals with a disease and compare them to the reference panel. This server is one of the largest and most diverse in the world, with over 90,000 sequenced genomes and more than 300 million genetic variants from various backgrounds (more than half from Non-European ethnicity and the rest from European ethnicity). Moreover, the panel is cost-effective and has a high accuracy rate as it uses more than 30 reads to determine each letter of an individual’s genetic code.
Genetics and Disease
With the large number and diversity of the genomes available, researchers will be able to answer crucial questions regarding how race or ethnicity contributes to disease. A study was conducted to investigate genomics within diverse populations. Results from this study showed significant variants that would have otherwise been missed if a single uniform cohort were used. The study of diverse groups provides researchers with a better understanding of the underpinnings of diseases and other mechanisms.
“As we continue to partner with researchers from around the world,” said Papanicolaou, “we expect the reference panel will grow in number and population diversity, putting these potential benefits within reach even faster.”