A number of highly correlated single nucleotide polymorphisms (SNPs) found in the chromosome 9 region p21 locus (9p21) have been investigated for association with myocardial infarction (MI), particularly early onset MI, and other manifestations of cardiovascular disease. Associations with abdominal aortic aneurysm and intracranial aneurysm have also been reported. Genotyping for 9p21 SNPs has been investigated to identify patients who may be at increased risk of cardiovascular disorders.
Genotyping for 9p21 single nucleotide polymorphisms for the identification of conditions/diseases, including, but not limited to, the following is considered investigational:
Individuals who may be at increased risk of cardiovascular disease or its manifestations (e.g., MI, ischemic stroke, peripheral arterial disease, coronary artery calcification)
Individuals who may be at increased risk for aneurysmal disease (e.g., abdominal aortic aneurysms, intracranial aneurysms, polypoidal choroidal vasculopathy)
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We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
ADDITIONAL INFORMATIONThere is insufficient evidence to support the clinical use of the 9p21 genetic variant to predict clinical events, or that its use improves health outcomes. Therefore, 9p21 genotyping for all applications is considered investigational.
Abrantes, P., Santos, M., Sousa, I., Xavier, J., Francisco, V., Krug, T., et al. (2015). Genetic variants underlying risk of intracranial aneurysms: insights from a GWAS in Portugal. PloS One, 10 (7), e0133422. (Level 4 evidence)
Alg, V., Sofat, R., Houlden, H., & Werring, D. (2013). Genetic risk factors for intracranial aneurysms. A meta-analysis in more than 116,000 individuals. Neurology, 80, 2154-2165. (Level 1 evidence)
American College of Cardiology/American Heart Association. 2013 ACC/AHA guideline on the assessment of cardiovascular risk. Retrieved June 2, 2017 from http://www.onlinejacc.org/content/accj/63/25_Part_B/2935.full.pdf?_ga=2.185171625.1411743239.1496427944-2128906682.1496427944.
Chan, K., Patel, R., Newcombe, P., Nelson, C., Qasim, A., Epstein, S., et al. (2013). Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: A collaborative meta-analysis. Journal of the American College of Cardiology, 61 (9), 957-970. (Level 1 evidence)
Dong, L., Wang, H., Wang, D., & Ding, H. (2013). Association of chromosome 9p21 genetic variants with risk of coronary heart disease in the East Asian population: a meta-analysis. Annuls of Human Genetics, 77, 183-190. (Level 1 evidence)
Guo, J., Li, W., Wu, Z., Cheng, X., Wang, Y., & Chen, T. (2013). Association between 9p21.3 genomic markers and coronary artery disease in East Asians: a meta-analysis involving 9,813 cases and 10,710 controls. Molecular Biology Reports, 40 (1), 337-343. Abstract retrieved June 2, 2017 from PubMed database.
Matoo, S., Fallah, M., Daneshpour, M., Mousavi, R., Sedaghati, K., Hasanzad, M., & Azizi, F. (2017). Increased risk of CHD in the presence of rs7865618 (A allele): Tehran lipid and glucose study. Archives of Iranian Medicine, 20 (3), 153-157. Abstract retrieved June 2, 2017 from PubMed database.
Patel, R., Asselbergs, F., Quyyumi, A., Palmer, T., Finan, C., Tragante, V., et al. (2014). Genetic variants at chromosome 9p21 and risk of first versus subsequent coronary heart disease events. Journal of the American College of Cardiology, 63 (21), 2234-2245. (Level 1 evidence)
ORIGINAL EFFECTIVE DATE: 12/8/2012
MOST RECENT REVIEW DATE: 7/13/2017
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
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