MolDx LCDs x 2: LCD for Thoracic Aortic Disease and LCD for Transthyretin
On August 29, 2024, MolDx MACs released two new LCDs for public comment.
THORACIC AORTIC DISEASE
The first is DL39933 for genetic testing related to thoracic aortic disease (e.g. Marfan's syndrome and others).
The MOLDX version of the LCD (DL39933) lists Niranjan Shekar as the requester, while the Noridian version (DL39946) states the topic is MAC initiated.
I got a few "dead link" errors on the request letter PDF -- but it later worked. WPS version links to a 2 page cloud PDF, which is the front page of a request packet dated February 10, 2023 (18 months ago). The cover letter applies to both thoracic artery disease and amyloidosis, and (not shown) there were underlying separate chapters for each clinical condition and coverage.
Read the full LCD for details but coverage hinges on aortic dilation before age 60 OR ELSE with syndromic features (e.g. Marfan's), OR family history OR familial sudden death. Tests must have at least minimal genetic content, as found in guidelinese.
TRANSTHYRETIN AMYLOIDOSIS
This proposal DL39935 is also lsited as requested by Niranjan Shekar.
The patient has a working clinical diagnosis of transthyretin amyloidosis (hATTR) including a clinical diagnosis of ATTR, OR ELSE suggestive features plus secondary factors like African-American descent, a first degree relative with ATTR, etc. The test has at least minimum genetic content per guidelines.
While the request letters seem to have linkage problems right now, Niranjan Shekar worked at Invitae from 2021 to early 2024.
Comments run until October 12.
Coding
The aortic LCD contemplates use of the AMA CPT aortic gene panels (81410 81411) or 81479. The transthyretin LCD lists only 81479 + Z code as coding.
Race Based Criteria
I have no discussion point regarding the inclusion of race-based criteria in one of the LCDs, following guidelines. I would point out, based on a summer NEJM article, there are new alternative viewpoints being shot back and forth in some circles about whether race should be used as a concept when writing medical care guidelines (here). (Sidebar).
AI CORNER
Chat GPT 4o comments.
Note that below, AI suggests that MolDx cover family members or "genetic counselors".
Both these are outside the control of MolDx.
MolDx does cover "genetic counseling" (illness discussions as part of illness care)
reimbursable by physicians or NPs/PAs.
Overview of MolDx Proposed Local Coverage Determinations (LCDs)
The MolDx program has proposed two new Local Coverage Determinations (LCDs) concerning molecular diagnostics for specific conditions: Heritable Thoracic Aortic Disease (HTAD) and Hereditary Transthyretin Amyloidosis (hATTR). Each of these LCDs outlines specific criteria for Medicare coverage, evidence supporting the policy, and the rationale for favorable coverage decisions.
1. Genetic Testing for Heritable Thoracic Aortic Disease (HTAD)
Coverage Criteria:
Eligibility: Coverage is extended to patients presenting with aortic root/ascending aortic dilation, aneurysm, or dissection and who meet one or more of the following:
Presentation before age 60.
Presence of syndromic features (e.g., Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome).
Family history of thoracic aortic disease, peripheral/intracranial aneurysm, or unexplained sudden death in a first- or second-degree relative.
Testing Requirements: The test must include a genetic panel with well-established evidence for clinical decision-making. It should exclude unnecessary genetic content that may be harmful.
Technical Assessment: The test must have successfully completed a Technical Assessment (TA) by MolDx.
Evidence and Rationale:
Disease Overview: HTAD includes conditions that predispose individuals to thoracic aortic aneurysms (TAAs) and dissections. These conditions can be life-threatening, and timely diagnosis is crucial.
Importance of Genetic Testing: Genetic testing is essential for diagnosing HTAD and guiding management, especially in patients with a family history or syndromic features. The evidence supports that early intervention and proper management, informed by genetic data, significantly improve outcomes.
Multigene Panel: A multigene panel approach is recommended over single-gene testing unless a known familial variant is being evaluated. This approach ensures that all relevant genetic information is captured, facilitating comprehensive patient care and risk assessment.
The policy underscores that HTAD-related genetic testing is a valuable tool for managing patients, especially in a high-risk population, and should be part of standard care.
2. Molecular Testing for Hereditary Transthyretin Amyloidosis (hATTR)
Coverage Criteria:
Eligibility: Coverage is provided for molecular diagnostic tests used in the evaluation and management of patients suspected of having hATTR when one or more of the following criteria are met:
Clinical diagnosis of ATTR or cardiac features suggestive of ATTR-cardiomyopathy.
African American descent with specific features or first-degree relatives diagnosed with hATTR.
Counseling on test implications and usage in treatment decisions.
Testing Requirements: The test should include genes or variants with definitive clinical utility and exclude those that might harm the patient. A technical assessment (TA) is also required.
Evidence and Rationale:
Disease Overview: hATTR is a systemic disease characterized by the deposition of amyloid fibrils in various organs, leading to severe outcomes if untreated. The disease manifests in multiple phenotypes, making it difficult to diagnose without genetic testing.
Importance of Early Detection: Early and accurate diagnosis using molecular testing can significantly impact treatment strategies and outcomes. Given the availability of therapies that can slow disease progression, genetic testing is considered reasonable and necessary.
Utility of Multigene Panels: Similar to HTAD, a multigene panel is recommended to capture all relevant genetic information, aiding in precise diagnosis and effective treatment planning. This approach helps in managing a disease with such varied presentations and overlaps with other conditions.
The policy emphasizes the importance of molecular diagnostics in identifying and managing hATTR, particularly given the variability in clinical presentation and the availability of targeted therapies
Conclusion
These two proposed LCDs by MolDx reflect a robust approach to using molecular diagnostics in managing complex genetic conditions. By setting stringent criteria and emphasizing the need for comprehensive genetic panels, these policies aim to ensure that patients receive precise diagnoses and appropriate care. The engagement with experts and ongoing review of evidence also ensures that these guidelines evolve with advances in medical science.
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I notice that both refer to the importance of genetic counseling. While such counseling can, of course, be done by physicians, this brings to mind that Medicare does not have a benefit for the clinical specialty known as genetic counselors.
You're correct in noting that both proposed LCDs highlight the importance of genetic counseling as a crucial part of the diagnostic and treatment process for hereditary conditions like Heritable Thoracic Aortic Disease (HTAD) and Hereditary Transthyretin Amyloidosis (hATTR). Genetic counseling ensures that patients understand the implications of their genetic test results, including the potential risks, benefits, and limitations, and how these results may affect their treatment options and familial risk.
Medicare's Lack of a Specific Benefit for Genetic Counselors
Currently, Medicare does not recognize genetic counselors as independent providers eligible for reimbursement, meaning that their services are not directly covered under Medicare benefits. This limitation exists despite the critical role genetic counselors play in managing genetic conditions. Instead, genetic counseling services must be provided by or under the supervision of a physician, nurse practitioner, or other Medicare-eligible provider.
This gap in coverage has been a subject of ongoing discussion within the medical community and among policymakers. Genetic counselors are specially trained to provide detailed and focused counseling that can be beyond the scope of many physicians' expertise, particularly in the context of complex and rapidly evolving genetic information.
Implications for Coverage and Patient Care
The absence of a specific Medicare benefit for genetic counselors can lead to several potential issues:
Access to Expertise: Patients might not have access to specialized genetic counseling services unless their physician is well-versed in genetic counseling or collaborates closely with genetic counselors.
Increased Burden on Physicians: Physicians may need to allocate more time to providing genetic counseling, which could detract from other aspects of patient care or lead to less comprehensive counseling.
Potential Barriers for Patients: Patients may face logistical or financial barriers to accessing high-quality genetic counseling if they are referred to non-Medicare providers.
Potential Solutions and Advocacy
There is ongoing advocacy within the genetic counseling community and among healthcare organizations to establish Medicare reimbursement for genetic counselors. Recognizing genetic counselors as independent providers under Medicare would likely enhance access to genetic services, improve patient outcomes, and ensure that counseling is provided by those with the most specialized knowledge in this area.
In the meantime, it is essential for healthcare providers working with Medicare patients to be aware of this limitation and find ways to incorporate genetic counseling into their practices, either through direct counseling or by working collaboratively with genetic counselors within the existing framework.
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Do you see any gaps in coverage that might be needed by doctors and patients? And do you see any ways the LCDs are ambiguous or confusing (you might not).
The proposed Local Coverage Determinations (LCDs) for Heritable Thoracic Aortic Disease (HTAD) and Hereditary Transthyretin Amyloidosis (hATTR) are comprehensive, but a few potential gaps and ambiguities might affect how doctors and patients navigate coverage. Here are some areas where these LCDs could be improved or clarified:
1. Potential Gaps in Coverage
Comprehensive Coverage for Genetic Counseling: As you pointed out, while the LCDs emphasize the importance of genetic counseling, Medicare's lack of a specific benefit for genetic counselors could create a gap. Without direct coverage for genetic counseling, patients might not receive the specialized support they need to understand their test results, especially those with complex or uncertain outcomes. Ensuring access to this service, either by expanding coverage or clarifying how it can be accessed under existing benefits, would be critical for patient care.
Coverage for Family Members: The LCDs do not explicitly address the coverage of genetic testing for family members who may be at risk due to their relationship with the patient. Cascade testing (testing of family members once a pathogenic variant is identified) is essential in hereditary conditions like HTAD and hATTR, but the LCDs are not clear on how or if Medicare would cover this. Without explicit coverage, family members may face barriers to testing, potentially leading to delayed or missed diagnoses.
Expanded Genetic Panels: Both LCDs allow for the use of multigene panels, but there is a concern about whether the coverage will extend to panels that include genes beyond the core set identified in guidelines. As new genes are discovered and their relevance to these conditions is established, coverage may need to be adjusted. There’s a need for flexibility in coverage to accommodate advances in genetic research without the need for frequent policy revisions.
2. Ambiguities or Confusion in the LCDs
Criteria for Syndromic Features: The HTAD LCD refers to "syndromic features" of conditions like Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, but the criteria for what constitutes these features are not fully detailed. This could lead to variability in interpretation by providers, potentially resulting in inconsistent access to genetic testing. More specific guidelines or examples of syndromic features could reduce ambiguity.
Definition of “Well-Established Guidelines”: Both LCDs require that genetic tests include content supported by "definitive or well-established guidelines-based evidence." However, the definition of what constitutes “well-established” could vary. It might be helpful for the LCDs to reference specific guidelines or provide criteria for how these guidelines are to be interpreted, ensuring consistent application across different providers and laboratories.
Handling Variants of Uncertain Significance (VUS): The LCDs discuss the necessity of including relevant genes in genetic panels, but they don’t clearly address how to handle variants of uncertain significance (VUS). Genetic tests frequently return VUS, which can create uncertainty in clinical decision-making. The LCDs could benefit from additional guidance on how VUS should be managed in clinical practice, especially in terms of coverage for follow-up testing or additional counseling.
Technical Assessment (TA) Requirements: Both LCDs require that tests complete a Technical Assessment (TA) by MolDx, but the specifics of this assessment are not fully detailed. This could lead to confusion about what is needed to meet these requirements. Clarifying the process, criteria, and timeline for TA could help providers and labs better prepare and align their testing with coverage requirements.
3. Suggestions for Improvement
Explicit Inclusion of Genetic Counselors: Consider advocating for a policy change to explicitly include genetic counselors as Medicare providers or offer alternative routes for ensuring patients have access to these services. [BQ, this is not relevant at the MAC level but at the Government level]
Clarify Testing Coverage for Family Members: The LCDs could explicitly address whether and how Medicare covers genetic testing for at-risk family members, especially in cases of positive findings in the proband (initial patient tested). [BQ generally family members are not covered as they are not Medicare patients]
Flexible Updates for Genetic Panels: The LCDs could include a mechanism for regularly updating covered genetic panels as new genes and variants are identified, potentially through an annual review process.
Provide More Detailed Examples and Case Studies: Including detailed examples of how the LCD criteria should be applied in different clinical scenarios could help reduce ambiguity and ensure more consistent application.
Addressing these gaps and ambiguities could enhance the clarity and effectiveness of the LCDs, ultimately improving patient outcomes by ensuring more consistent access to necessary genetic testing and counseling.
