“Whole genome sequencing of pharmacogenetic drug response in racially diverse children with asthma” has been published by the American Journal of Respiratory and Critical Care Medicine (ARJCCM). “This is a huge win for the NHLBI’s TOPMed program, UCSF, and our lab,” said senior author Esteban G. Burchard, MD, MPH.

Trans-Omics for Precision Medicine (TOPMed) is a program of the National Heart, Lung, and Blood Institute (NHLBI) that advances precision medicine, an emerging approach to disease prevention and treatment that considers the unique genes and environment of each patient.

“We published the first pharmacogenetic whole genome sequencing study of albuterol response. We demonstrated that there are common and rare genetic variants that drive bronchodilator drug response to albuterol among three racial groups of minority children with asthma. African Americans and Puerto Ricans have the highest asthma prevalence, morbidity, and mortality but lowest drug response to asthma therapies,” he said.

“Genetic research in diverse populations is very important; the new PCSK inhibitors for cholesterol were identified in African Americans and completely missed in populations of European-origin,” added Burchard.

UCSF collaborators include: Angel C.Y. Mak, MPhil, PhD; Marquitta J. White, MS, PhD; Walter L. Eckalbar, PhD; Zachary A. Szpiech, PhD; Sam S. Oh, PhD, MPH; Donglei Hu, PhD; Pagé Goddard; Scott Huntsman, MS; Dara G. Torgerson, PhD; Celeste Eng, BS; Sandra Salazar; Kevin L. Keys, PhD; Jennifer Liberto, MS; Thomas J. Nuckton, MD; Thomas A. Nguyen; Pui-Yan Kwok, MD, PhD; Nadav Ahituv, PhD; Elad Ziv, MD; Noah Zaitlen, PhD; Ryan Hernandez, PhD.