On May 6, 2009, CMS will convene a public meeting of the Medicare Evidence Development and Coverage Advisory Committee (MEDCAC) entitled "Screening Genetic Tests".

The Secretary's Advisory Committee on Genetics, Health and Society (SACGHS) defines genetic testing as "…any test performed using molecular biology methods to test DNA or RNA, including germline, heritable, and acquired somatic variations." Genetic screening test(s) are used for individuals who do not exhibit signs or symptoms of a disorder to detect possible diseases and for clinical uses. Currently, these tests are sweeping into the market despite the less than robust evidence to support these uses.

This meeting will focus on the desirable characteristics of evidence that are needed to evaluate screening genetic test(s) for Medicare coverage. As such CMS wants to determine whether genetic testing as a laboratory screening service improves health outcomes for the Medicare population. Specifically, does the screening genetic testing change the natural history and/or reduce the complications of the disease and alter morbidity/mortality. CMS also asks the committee to identify current data deficiencies that warrant further research.

Saty Satya-Murti, Acting Chair
Marcel Salive, MD, Coverage and Analysis Group
Maria Ellis, Executive Secretary

Issue:

CMS wishes to obtain the MEDCAC’s recommendation regarding the desirable characteristics of evidence that could be used by the Medicare program to determine whether the screening use of genetic testing improves health outcomes or leads to early detection of clinically inapparent disease.  The Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) has defined genetic testing as “…any test performed using molecular biology methods to test DNA or RNA, including germline, heritable, and acquired somatic variations.”

Pursuant to Title XVIII of the Social Security Act (the Act), §1862(a)(1)(A), Congress gave the Secretary of Health and Human Services the authority to consider Medicare coverage of diagnostic tests. Diagnostic tests are used by the treating physician to diagnose or treat a condition or disease when the beneficiary has signs or symptoms of a disorder. In contrast to diagnostic tests, screening tests are administered to asymptomatic individuals for the prevention or early detection of illness or disability. During the last 25 years, Congress has added some screening services that are now covered by Medicare; and these screening services include: mammography, glaucoma, pelvic exam and pap test, diabetes, lipids, colorectal cancer and prostate cancer.

Recently, the Medicare Improvements for Patients and Providers Act of 2008 (MIPPA) (Pub. L. 110-275) was approved by Congress. Effective January 1, 2009, MIPPA, section 101(a), provides for Medicare Part B coverage for additional preventive services, that are not already described in Title XVIII of the Act, when the Secretary determines through the national coverage determination (NCD) process (as described in section 1869(f)(1)(B) of the Act) that a new service meets the following statutory requirements for coverage.

Currently, Medicare does not have a national coverage decision for screening genetic tests. Since screening is conducted on asymptomatic individuals, the analytic framework for screening tests involves consideration of several different factors compared to diagnostic tests and therapeutic interventions. One framework for evaluating screening tests was outlined by Cochrane and Holland (1971) as follows: “The value of a screening test may be assessed according to the following criteria:

An example of a genetic test suggested for screening use is detection of the homozygous presence of e4 allele of the APOE gene (also expressed as APOE e4/e4). This genetic characteristic has been shown in published studies to be associated with an elevated risk of developing Alzheimer disease (Odds Ratio 2.1 (95% CI, 5.1-11.9)b). A further discussion of considerations for using this genetic test in a specific clinical scenario is provided in the series of recent articles.

Reference: Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, et al. How to use an article about genetic association:
A: background concepts. JAMA 2009 Jan 7; 301(1): 74-81;
B: Are the results of the study valid? JAMA 2009 Jan 14; 301(2): 191-7;
C: What are the results and will they help me in caring for my patients? JAMA Jan 21; 301(3): 304-8.

Questions:

The following questions should be addressed in the context of screening genetic tests for the early detection of disease:

Download scoresheet [PDF, 25KB]

* 7 MINUTES PER SPEAKER*

• Jan A. Nowak, MD, PhD, FCAP, Medical Director, Molecular Diagnostics Laboratory, Evanston Hospital

• Richard Wenstrup, MD, Chief Medical Officer, Myriad Genetic Laboratories, Inc.

• Bruce Quinn, MD, MBA, Senior Health Policy Specialist, Foley Hoag, LLP

• Charis Eng, MD, PhD, FACP, Chairman and Director, Cleveland Clinic Genomic Medicine Institute

• Diane J. Allingham-Hawkins, PhD, FCCMG, FACMG, Director, Genetics Test Evaluation Program, Hayes, Inc.

• Roger D. Klein, MD, JD, Medical Director, Molecular Oncology, Blood Center of Wisconsin