Purpose of review: This review focuses on the implementation of genomic discoveries associated with smoking behaviors and smoking-related illnesses to improve prevention efforts and smoking cessation.
Recent findings: Large-scale studies have discovered genomic variation that contributes to smoking heaviness and smoking cessation. Variation in the α5 nicotinic acetylcholine receptor subunit (CHRNA5) and the primary nicotine metabolizing gene (CYP2A6) strongly contribute to smoking behaviors, lung cancer, and chronic obstructive pulmonary disease. The analytic and clinical validity of these genes is clearly established, and evidence of clinical utility for risk stratification is growing. Equity will be a critical issue facing the translation of genomic findings into improved health because the majority of genomic studies have been conducted in European ancestry populations.
Summary: Now is the time to increase the state of readiness for implementation of genomic profiling and we must address issues of increasing healthcare disparities that may arise with this new genomic technology.
Keywords: CHRNA5; CYP2A6; genomic profiling; polygenic risk score; smoking cessation.