Tuesday, August 17, 2021

Novitas: Proposal for New Approach to Cardiology Genetic Testing

After oncology, cardiology is a significant clinical area for genetic testing.  Medicare programs have traditionally said fairly little about this.  The Novitas MAC proposed a new LCD dedicated solely to cardiology testing.   Stakeholders may want to comment.

The LCD exemplifies an important new trend - also seen in a currently proposed MolDx LCD for cancer inherited risk testing - of stating some generalities and principles of coverage but not stating any particular diseases, conditions, or genes covered.  Those might be stated, or updated, in greater or lesser detail in accompanying articles, or, the LCD could be viewed as "self-implementing" when the generalities are complied with.  

What's the Problem?

The difficulty is that the physicians and patients can't look up what is covered, or denied, in the viewpoint of the medical director or nursing staff later implementing the policy.

Further, it's difficult or impossible for Medicare Advantage plans to know what they must, or need not, comply with.   

A few months ago Novitas issued a policy for molecular infectious disease testing that simply stated such testing was covered when it was timely and likely to influence care.  Well, yes, but those are generalities that might lead into hostile arguments in event of an audit or recoupment.

More Detail - See Links & Comment

See the Novitas webpage for new LCDs here.  The LCD for cardiovascular genetic testing is DL39082, and is paired with a billing article DA58795.   Comment period is open July 29-September 11, 2021.





I've clipped the body of the LCD, as proposed, below the break.

History/Background and/or General Information

With advancement in science and technology comes the ability to incorporate genetic testing for hereditary cardiovascular disease into clinical care, with the goal of improved patient outcomes. The scope of this LCD is genetic testing in the practice of cardiovascular medicine in the Medicare population.

The genetic basis of cardiovascular disease is an area of rapidly expanding knowledge. To date, identification of genetic variants associated with cardiovascular disease includes hypertrophic and dilated cardiomyopathy (associated with mutations in sarcomere and structural genes), arrhythmogenic cardiomyopathy (associated with mutations in desmosome genes), inherited arrhythmias (associated with mutations in transmembrane ion channels genes), and Marfan and related syndromes (associated with mutations in genes encoding connective tissue elements). Association does not necessarily translate to improvement in patient care.

In certain circumstances, genetic testing for inherited cardiovascular disease in patients with the corresponding appropriate phenotypic medical condition could have the potential to assist patient management in the Medicare population. However, given the complexity and rapidly expanding knowledge in this topic area, there is also a potential for testing that does not help the patient or leads to confusion. Specialized clinical expertise in cardiovascular medicine in addition to advanced knowledge in both genetic variation and effect on gene function is required to facilitate optimal outcomes for patients.

Covered Indications

Genetic testing for hereditary cardiovascular disease will be considered medically reasonable and necessary if:

  1. The patient has rigorous disease-appropriate phenotyping to establish clinical diagnosis or suspected diagnosis for which the test results would directly impact the management of the patient’s condition, prior to ordering the test
  2. AND
  3. The evidence for the gene-disease association is evaluated by the evidence-based, transparent, peer-reviewed process of the National Institutes of Health (NIH) sponsored Clinical Genome Resource (ClinGen) and is determined to demonstrate actionability in clinical decision making, meeting all bulleted metrics:
    • Disease severity of sudden death, possible death or major morbidity, modest morbidity
    • Substantial or moderate evidence of a >40% likelihood of disease
    • Substantial or moderate evidence of a highly effective or moderately effective intervention
    • The nature of intervention is either low risk/medically acceptable/low intensity intervention or moderately acceptable/risk/intensive interventions,
  4. Clinical validity and qualitative descriptors from Moderate, Strong & Definitive with contradictory evidence NOT being reported as disputed or refuted.


The following are considered not medically reasonable and necessary:

  1. A genetic test where either analytical validity, clinical validity, or clinical utility has not been established.
  2. Genetic testing in patients who do not demonstrate the disease-appropriate phenotype of the gene-disease association.
  3. Genetic testing of asymptomatic patients.
  4. Genetic testing solely for purposes of proband identification.
  5. Genetic testing with family history as the only indication.
      Gene tests for cardiovascular disease are considered germline testing, and therefore only permitted once per beneficiary’s lifecycle.

Provider Qualifications

The ordering provider of a genetic test for a patient with a cardiovascular disease-appropriate phenotype:

  • Must be the treating clinician who is responsible for the cardiovascular disease management of the patient’s condition; and,
  • Understands how the test result will impact the patient’s condition; and,
  • Has presented this information to the patient eliciting patient understanding.


I mentioned in the introduction that if Medicare MAC LCDs are vaguely written, it is hard for Medicare Advantage (MA) plans to translate them into coverage.   A similar problem occurs where the Affordable Care Act requires commercial payors to translate USPSTF benefits - all of them - into coverage, as the language and style and logic of the USPTF documents don't necessarily crosswalk explicitly into the types of rules that payors use for coverage decisions.