RE: Draft Local Coverage Determination: Molecular Diagnostic Testing (PATH-037) CMS ID #DL33219

Olatokunbo Awodele

3333 Farnam

Omaha, NE 68131

RE: Draft Local Coverage Determination: Molecular Diagnostic Testing (PATH-037) CMS ID #DL33219

I understand WPS proposes to not cover genetic testing for Long QT Syndrome (CPT Codes 81280-81282) for Medicare beneficiaries in your jurisdiction. According to the Guidelines developed in 2011 by the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) and endorsed by the American Heart Association, “comprehensive and targeted LQTS genetic testing is recommended”. They also state that Long QT genetic testing has diagnostic, prognostic and therapeutic implications in the treatment of Long QT Syndrome.

LQTS is a disturbance of the heart’s electrical system. It is caused by abnormalities of microscopic pores, or holes, in the heart cells called ion channels. Ions such as potassium, sodium, calcium and chloride pass back and forth across the cell membrane through ion channels. As they do, they generate the electrical activity (depolarization and repolarization) that controls the heart’s mechanical function. Potassium and sodium ion channels have so far been identified as the ones affected in LQTS. The abnormal channels prolong the repolarization process and the QT interval, thus predisposing patients to certain cardiac arrhythmias.

LQTS is usually inherited by autosomal dominant transmission. This means that it affects boys and girls equally, and that each child of an affected parent has a 50% chance of inheriting the gene. In a really large family approximately 50% of the children would inherit the gene. In usual size families it can range from all to none as each child has an independent 50/50 chance of inheriting the gene. Once a family member is identified with LQTS, it is extremely important that other family members be tested for the syndrome. It is especially important to know which parent and grandparent has the abnormality, since brothers and sisters, aunts, uncles, nephews, nieces, and cousins on the affected side are potentially at risk. This prospective screening is extremely important so that all affected family members are identified and treated early in order to prevent the tragic and unnecessary sudden deaths that may occur.

There are a number of situations in which patients who are Medicare beneficiaries may present for testing and coverage.

1.  Testing in utero for those with a family history of LQT

2.  Testing in those covered by Medicare under Social Security Disability who present with symptoms for which testing is indicated.

3.  Testing in those who have been asymptomatic the condition is first identified by an EKG done for another reason or after the patient becomes symptomatic, eg has a fainting episode.

4.  Testing in asymptomatic family members.

We recognize that there is strong value to testing asymptomatic family members to identify carriers for care of the individual and family members, but that testing in asymptomatic persons is not a covered benefit under the current Medicare law. However, the first 3 beneficiaries should be covered by Medicare under the WPS Molecular Pathology Local Coverage Decision (LCD).

The 2011 Heart Rhythm Society (HRS) / European Heart Rhythm Association (EHRA) Consensus Statement recommendation for genetic testing for long QT Syndrome (LQTS)[i] testing is recommended “for any patient in whom a cardiologist has established a strong clinical index of suspicion for LQTS based on examination of the patient’s clinical history, family history, and expressed electrocardiographic (resting 12-lead ECGs and/or provocative stress testing with exercise or catecholamine infusion) phenotype.”

The results of testing have a direct impact on management in a number of ways:

a.  The clinical course differs based on the subtypes present. This relationship has been documented in the clinical research so that the genotype is an important part of the prognostic formulas.[ii]Goldberger et al have demonstrated that the affected LQTS patients “have a >2.5-fold increase in the risk of aborted cardiac arrest or death compared with their unaffected counterparts.” Those with LQTS3 genotype have a nearly 5-fold increase risk of aborted cardiac arrest or death. [iii]

b.  The subtype of LQT directs the treatment options, the type of treatment and timing of interventions, such as placement of implantable cardioverter-defibrillator (ICD).Some of these lifestyle changes and treatments include: Avoiding strenuous physical activity or startling noises. Beta-blocker medication is the primary treatment for the autosomal dominant RWS; possible use of a pacemaker in those individuals with LQT1 and LQT2 phenotypes with symptomatic bradycardia associated with beta-blocker therapy; possible implantable cardioverter-defibrillator (ICD) for symptomatic individuals with the LQT3 phenotype. Possible ICD for those with beta-blocker-resistant symptoms, inability to take beta blockers, and/or history of cardiac arrest. [iv]

The Smith (not real name) family demonstrates the value of genetic testing for diagnosing SADS conditions. They had all of their children screened after one of their daughters was diagnosed. The children were screened with ECGs - not genetic testing. One of the daughters, who was identified as not having LQTS, died a year later from a cardiac arrest caused by LQTS. This daughter’s mutation would have been identified through genetic testing and she could have received an inexpensive beta blocker medication that could have saved her life. Unfortunately this is not an isolated incident and continues to be a problem when someone’s ECGs are borderline and not within a diagnostic range.

The reality is that the number who would require LQT testing as Medicare beneficiaries is relatively small. But, given the seriousness of this condition and the strong link between genetic subtype, prognosis and treatment decisions, it is still an important test to be covered. I believe this condition meets Medicare’s ‘reasonable and necessary’ criteria for diagnosis and treatment of an illness. I recommend WPS cover LQT testing for Medicare beneficiaries as recommended in the ACC/AHA/ESC Guidelines and for in utero testing.

Sincerely,

[i] Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm.2011 Aug;8(8):1308-39. doi: 10.1016/j.hrthm.2011.05.020.

[ii] Barsheshet

[iii] Goldberg et al. Long QT after 40 Circulation.2008 Apr 29;117(17):2192-201. doi: 10.1161/CIRCULATIONAHA.107.729368. Epub 2008 Apr 21.

[iv] Alders M, Mannens MMAM. Romano-Ward Syndrome. 2003 Feb 20 [Updated 2012 May 31]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1129/