Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
DESCRIPTION
The major cardiac problems seen in individuals with thoracic aortic aneurysm and dissection (TAAD) are aneurysm of the aorta, usually the aortic root and ascending aorta, and aortic dissection. Most aneurysms are asymptomatic; however, if undetected and untreated they can lead to a life-threatening condition known as aortic dissection. In the absence of a known inherited syndrome, 20% of individuals with TAAD will have a positive family history. To date thirty-seven genes have been identified in association with TAAD and can be a symptom in several genetic syndromes. Many laboratories offer testing for at least 9 genes that have been associated with TAAD in their panels, including the genes that cause Marfan Syndrome (MFS), Loeys-Dietz (LDS), Ehlers-Danlos Type IV (EDS IV), and Heritable Thoracic Aortic Disease (HTAD). In many cases, a careful clinical examination by a specialist familiar with clinical features of these conditions can help them make a diagnosis toward one condition. If the condition is known, testing for the genes associated with that condition would be most appropriate. If the condition is unknown, then a panel test would need to be completed for more than one gene to determine the underlying cause.
TAAD can be diagnosed by various imaging studies (i.e., echocardiography, computed tomography, MRI) and genetic testing is helpful to determine if there is an underlying genetic condition causing the TAAD. Accurate diagnosis can lead to changes in clinical management, including surveillance and surgical repair of the aorta when necessary.
POLICY
Genetic testing for,
thoracic aortic aneurysm and dissection is considered medically necessary if
the medical appropriateness criteria are met. (See
Medical Appropriateness below.)
Genetic testing panels for,
thoracic aortic aneurysms and dissections that are not limited to
focused mutation testing are considered investigational.
MEDICAL APPROPRIATENESS
Genetic testing for,
thoracic aortic aneurysms and dissections is considered medically
appropriate if ANY
ONE of the following are met:
Targeted single-gene testing is indicated when ALL the following are met:
No previous genetic testing that would detect the familial mutation
Diagnostic or predisposition testing for symptomatic or presymptomatic individual
Family mutation has been identified in first degree biological relative
Gene panel testing is indicated when ALL the following are met:
Individual is symptomatic
Cardiology examination is consistent with a diagnosis of thoracic aortic aneurysm and aortic dissection
Clinical features are not sufficiently specific to suggest a single condition
Results of the test will impact the individual’s diagnostic and treatment options
Testing limited to 1 or more of the following:
FBN1
MYH11
ACTA2
TGFBR1
TGFBR2
SLC2A10
SMAD3
MYLK
COL3A1
IMPORTANT REMINDERS
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
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 or government program (e.g., TennCare), the express terms of the health plan or government program will govern.
ADDITIONAL INFORMATION
Laboratory-developed tests (LDTs) must meet the general regulatory standards of the Clinical Laboratory Improvement Act (CLIA). Laboratories that offer LDTs must be licensed by CLIA for high-complexity testing.
SOURCES
American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery. (2022). Guidelines for the diagnosis and management of patients with thoracic aortic disease. Journal of the American College of Cardiology, 55 (14), 27-129.
American Heart Association (2020). Genetic testing for inherited cardiovascular diseases: A scientific statement. Retrieved February 9, 2022 from https://www.ahajournals.org/.
eviCore healthcare. (2023, January). Thoracic aortic aneurysms and dissections (TAAD) panel testing guidelines. Retrieved April 28, 2023 from www.evicore.com. (12 articles and/or guidelines reviewed)
Guisti, B., Nistri, S., Sticchi, E., De Cario, R., Abbate, R., Gensini, G., et al. (2016). A case based approach to clinical genetics of thoracic aortic aneurysm/dissection. BioMed Research International, 9579654. Abstract retrieved March 22, 2017 from PubMed database.
Schubert, J. A., Landis, B. J., Shikany, A. R., Hinton, R. B., & Ware, S. M. (2016). Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. American Journal of Medical Genetics Part A, 170A (5), 1288-1294. Abstract retrieved March 22, 2017 from PubMed database.
Vinholo, TF., Brownstein, AJ., Ziganshin, BA., Zfar, MA., Kuivaniemi, H., Body, SC., & et al. (2019). Genes associated with thoracic aortic aneurysm and dissection: 2019 update and clinical implications. Aorta, 7 (4), 99-107. (Level 1 evidence)
ORIGINAL EFFECTIVE DATE: 10/10/2015
MOST RECENT REVIEW DATE: 6/8/2023
ID_EC
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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