TOPMed: Trans-Omics for Precision Medicine

Washington University’s McDonnell Genome Institute received $10 million from the National Heart, Lung and Blood Institute (NHLBI) to sequence the DNA of people from diverse ethnic backgrounds, in an effort to identify the genetic roots of chronic obstructive pulmonary disease (COPD) and other lung disorders.

The research is part of a national project to understand the genetics underlying heart, lung, blood and sleep disorders, including high blood pressure, obesity, sleep apnea, stroke, asthma, COPD, hemophilia, sickle cell disease and pulmonary embolism.

While most large genome sequencing projects have focused on Europeans and Caucasians, MGI includes many others with different racial and ethnic backgrounds. Increasing the diversity of the groups being sequenced is important in understanding how genetic variations influence disease risk.

Half the participants in the current program are of European descent; 30 percent are of African descent; 10 percent are of Hispanic or Latino origin; eight percent are of Asian descent; and about two percent represent indigenous populations, such as Pacific Islanders.

MGI sequenced the genomes of about 6,500 patients with lung diseases, primarily COPD and interstitial pulmonary fibrosis, a progressive scarring of lung tissue with variable causes, including autoimmunity.

The goal of such large genomic studies is to understand how differences in DNA contribute to disease risk. To make these comparisons, researchers require very large sample sizes so they can analyze DNA sequences in the context of the course of the patients’ diseases and in comparison with healthy individuals.