TY - JOUR
T1 - Toward the implementation of genomic applications for smoking cessation and smoking-related diseases
AU - Ramsey, Alex T.
AU - Chen, Li Shiun
AU - Hartz, Sarah M.
AU - Saccone, Nancy L.
AU - Fisher, Sherri L.
AU - Proctor, Enola K.
AU - Bierut, Laura J.
N1 - Funding Information:
Acknowledgments: Research reported in this publication was supported by the National Institute on Drug Abuse of the National Institutes of Health under Award Number K12DA041449. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. This research was also supported by a grant from the Foundation for Barnes-Jewish Hospital. This research is not published, accepted, or under review at any other publication outlet. An earlier version of this review study was reported in a poster presentation at the 2017 Patient Centered Outcomes Research (PCOR) Symposium at Washington University. The authors have full control of all primary data and agree to allow the journal to review the data, if requested.
Publisher Copyright:
© Society of Behavioral Medicine 2018.
PY - 2018/2/1
Y1 - 2018/2/1
N2 - The incorporation of genomic information into routine care settings is a burgeoning area for investigation in behavioral medicine. The past decade has witnessed rapid advancements in knowledge of genetic biomarkers associated with smoking behaviors and tobacco-related morbidity and mortality, providing the basis for promising genomic applications in clinical and community settings. We assessed the current state of readiness for implementing genomic applications involving variation in the α5 nicotinic cholinergic receptor subunit gene CHRNA5 and smoking outcomes (behaviors and related diseases) using a process that could be translatable to a wide range of genomic applications in behavioral medicine. We reviewed the scientific literature involving CHRNA5 genetic variation and smoking cessation, and then summarized and synthesized a chain of evidence according to analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications (ACCE), a well-established set of criteria used to evaluate genomic applications. Our review identified at least three specific genomic applications for which implementation may be considered, including the use of CHRNA5 genetic test results for informing disease risk, optimizing smoking cessation treatment, and motivating smoking behavior change. For these genomic applications, we rated analytic validity as convincing, clinical validity as adequate, and clinical utility and ethical, legal, and social implications as inadequate. For clinical genomic applications involving CHRNA5 variation and smoking outcomes, research efforts now need to focus on establishing clinical utility. This approach is compatible with pre-implementation research, which is also needed to accelerate translation, improve innovation design, and understand and refine system processes involved in implementation. This study informs the readiness to incorporate smoking-related genomic applications in real-world settings and facilitates cross-disciplinary collaboration to accelerate the integration of evidence-based genomics in behavioral medicine.
AB - The incorporation of genomic information into routine care settings is a burgeoning area for investigation in behavioral medicine. The past decade has witnessed rapid advancements in knowledge of genetic biomarkers associated with smoking behaviors and tobacco-related morbidity and mortality, providing the basis for promising genomic applications in clinical and community settings. We assessed the current state of readiness for implementing genomic applications involving variation in the α5 nicotinic cholinergic receptor subunit gene CHRNA5 and smoking outcomes (behaviors and related diseases) using a process that could be translatable to a wide range of genomic applications in behavioral medicine. We reviewed the scientific literature involving CHRNA5 genetic variation and smoking cessation, and then summarized and synthesized a chain of evidence according to analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications (ACCE), a well-established set of criteria used to evaluate genomic applications. Our review identified at least three specific genomic applications for which implementation may be considered, including the use of CHRNA5 genetic test results for informing disease risk, optimizing smoking cessation treatment, and motivating smoking behavior change. For these genomic applications, we rated analytic validity as convincing, clinical validity as adequate, and clinical utility and ethical, legal, and social implications as inadequate. For clinical genomic applications involving CHRNA5 variation and smoking outcomes, research efforts now need to focus on establishing clinical utility. This approach is compatible with pre-implementation research, which is also needed to accelerate translation, improve innovation design, and understand and refine system processes involved in implementation. This study informs the readiness to incorporate smoking-related genomic applications in real-world settings and facilitates cross-disciplinary collaboration to accelerate the integration of evidence-based genomics in behavioral medicine.
KW - Behavioral health
KW - Genomic medicine
KW - Implementation science
KW - Pharmacogenetics
KW - Return of results
KW - Smoking cessation
UR - http://www.scopus.com/inward/record.url?scp=85044584419&partnerID=8YFLogxK
U2 - 10.1093/tbm/ibx060
DO - 10.1093/tbm/ibx060
M3 - Article
C2 - 29385591
AN - SCOPUS:85044584419
SN - 1869-6716
VL - 8
SP - 7
EP - 17
JO - Translational Behavioral Medicine
JF - Translational Behavioral Medicine
IS - 1
ER -