Precision medicine propels lung research discoveries

Fifty years of advancement into an ever-greater understanding of lung illnesses have whet the interest of the NHLBI’s Division of Lung Diseases (DLD) in precision medicine. This is the next step to integrate the spectrum of lung disease research and translate it much faster into patient care.

DLD’s first precision medicine efforts date back at least to 1991, with funded research to understand the genetics of asthma and the causes of heterogeneity in the responses to treatments and triggers. This research continues to bear fruits through the severe asthma research program (SARP) and the Precision Interventions for Severe and/or Exacerbation Prone Asthma (PreCISE).

NHLBI-funded studies in the Journal of Allergy Clinical Immunology and the American Journal of Respiratory and Critical Care Medicine report the identification of genetic variants that can predict patients’ response to inhaled corticosteroids, the most common treatment for asthma. The researchers used genome-wide scans – with a focus on including non-white populations – as well as a dozen clinical variables identified through machine learning techniques.

In the largest study of its kind to date, NHLBI-funded researchers found new clues into the parts of the human genome linked to the higher rates of asthma in people of African ancestry. Through genome-wide association studies, scientists identified locations on a specific chromosome that may increase the risk of asthma in this population higher risk of asthma. The study was published in the journal Nature Communications. The use of new technologies, as well as the adaptation of clinical trial design, as reported in the Contemporary Clinical Trials journal are bringing forth the promise of precision medicine in lung research.

Similar research is being done for other diseases, such as chronic obstructive pulmonary disease (COPD). An NHLBI-funded study, published in Nature Genetics, shows that genetic differences help explain why some people who have never smoked develop COPD, and why some smokers are at higher risk of getting the disease than other smokers.

In the American Journal of Respiratory and Critical Care Medicine, NHLBI-funded researchers reported on the ability of a relatively new technique, called Parametric Response Mapping (PRM), to identify small airway abnormality in COPD. In another study, published in the journal Proceedings of the National Academy of Sciences, researchers have discovered that genetic variations in the anatomy of the lungs could help identify people who are particularly at risk for COPD.

Also published in the American Journal of Respiratory and Critical Care Medicine, an NHLBI-funded study identified novel genetic signals for lung function and COPD, by conducting a genome-wide association study of almost 12 thousand participants in the NHLBI's Hispanic Community Health Study/Study of Latinos.

DLD’s focus on sleep disorders has deepened as new research methods and approaches have opened new exploratory roads. A study in the American Journal of Human Genetics identified 57 genetic variations of a gene strongly associated with declines in blood oxygen levels during sleep. Low oxygen levels during sleep are a clinical indicator of the severity of sleep apnea, a disorder that increases the risk of heart disease, dementia, and death. Another NHLBI-funded study in the Sleep journal found sex differences in obstructive sleep apnea, providing the strongest evidence yet that this condition may need to be measured differently in women.

Media Coverage

American Journal of Respiratory and Critical Care Medicine