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Genetic tests have been developed for a growing number of diseases. Many tests are currently marketed for clinical uses, but the evidence base used to support these uses is not yet well developed.
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 genetic testing as a laboratory diagnostic service improves health outcomes. 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.”
December 11, 2008
December 22, 2008
January 30, 2009
February 23, 2009
February 27, 2009
April 6, 2009
Barbara McNeil, MD PhD, Chair
Steve Pearson, MD, MSC, Vice-Chair
Steve E. Phurrough, MD, MPA, Coverage and Analysis Group
Maria Ellis, Executive Secretary
7:30 – 8:00 AM
8:00 – 8:20 AM
8:20 - 8:35 AM
8:35 – 9:20 AM
9:20 – 10:00 AM
10:00 – 10:15 AM
10:15 – 11:00 AM
Public attendees, who have contacted the executive secretary prior to the meeting, will address the panel and present information relevant to the agenda. Speakers are asked to state whether or not they have any financial involvement with manufacturers of any products being discussed or with their competitors and who funded their travel to this meeting. p
11:00 – 11:30 AM
Public Attendees who wish to address the panel will be given that opportunity
11:35 – 12:35 PM
12:35 – 1:35 PM
1:35 – 2:45 PM
2:45 – 3:30 PM
The Chairperson will ask each panel member to state his or her position on the voting questions
3:30 – 4:25 PM
4:25 – 4:30 PM
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 genetic (including genomic) testing as a laboratory diagnostic service improves health outcomes in Medicare beneficiaries. 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.”
Medicare may cover a diagnostic test that is used by the beneficiary’s treating physician to guide the physician’s diagnosis and treatment of the beneficiary’s personal condition. This contrasts with a screening test used to identify an occult condition or state in an asymptomatic person. The questions below should be addressed in the former context, i.e. diagnostic testing.
Q1. Are the desirable characteristics of evidence for diagnostic genetic testing different from the desirable characteristics of diagnostic testing in general?
Q2. What are the desirable characteristics of evidence for determining the analytical validity of genetic diagnostic tests?
Q3. Beyond aspects of analytical validity considered above, are there meaningful differences in the desirable and/or necessary characteristics of evidence about the effect of genetic testing on outcomes for the three testing paradigms below? If yes, please consider question 4 separately for each paradigm. If not, please consider question 4 to apply equally to all three.
Q4. For each type of outcome below, how confident are you that methodologically rigorous evidence on the outcome is sufficient to infer whether or not diagnostic genetic testing improves patient centered health outcomes?
For each lettered outcome type, assign a number from 1 to 5 to indicate your vote. A lower number indicates lower confidence; a higher number indicates higher confidence.
Q5. Are there ethical issues particular to genetic testing that may alter the methodologic rigor of studies of genetic testing?
Please discuss the existence, relevance, and impact of such issues.
Q6. Does the age of the Medicare beneficiary population present particular challenges that may compromise the generation and/or interpretation of evidence regarding genetic testing?
Medicare Evidence Development and Coverage Advisory Committee
Meeting of February 25, 2009: Diagnostic Uses of Genetic Testing
CMS seeks advice from the Medicare Evidence Development and Coverage Advisory Committee (MEDCAC) about the basis of evidence for coverage of genetic testing. Each of these two MEDCAC sessions will focus on a separate use of genetic testing:
CMS considers that a laboratory test is performed for screening if used to detect the presence or the risk of a latent or inapparent disease on a test sample from an individual who does not demonstrate signs or symptoms of the disease. Screening uses of laboratory tests (including genetic tests) are not generally benefits under the Medicare program and thus are ineligible for Medicare coverage unless Congress has specifically directed otherwise..
In Question 3 proposed for MEDCAC consideration, the Committee may wish to consider several uses of genetic testing together or separately:
A table briefly summarizing recent articles on each genetic test cited above is included below.
Diagnostic: Huntington’s disease
Walker 20071 describes the genetic defect in the HD gene and its use in diagnosis.
Prognostic: Risk of distant recurrence in breast cancer based on tumor gene expression profile
EGAPP 20092 found evidence to support the association between the ‘recurrence score’ based on a 21-gene expression profile, and rates of distant metastases at 10 years among women with Stage I or II node-negative estrogen-receptor positive breast cancer treated with tamoxifen.
Pharmacogenomic: Colorectal cancer
A preliminary clinical opinion of the American Society of Clinical Oncologists3 reviews the evidence that colorectal cancer patients with mutated K-ras have little or no chemotherapeutic response to certain EGFR receptor antagonist agents such as cetuximab or panitumumab.
Barbara McNeil, MD, PhD - Chair
Department of Health Care Policy
Harvard Medical School
Steven Pearson, MD, MSC - Vice Chair
Institute for Clinical and Economic Review
Massachusetts General Hospital and Harvard Medical School
Mina Chung, MD
Department of Cardiovascular Medicine
The Cleveland Clinic Foundation
Marion Danis, MD
Bioethics Consultation Service
NIH Clinical Center
Catherine Eng, MD, FACP
On Lok Lifeways
Mark D. Grant, MD, MPH
Technology Evaluation Center
BlueCross BlueShield Association
Clifford Goodman, PhD
Senior Vice President
The Lewin Group
James E. Puklin, MD
Professor of Ophthalmology
Department of Ophthalmolgy
Kresge Eye Institute
Wayne State University School of Medicine
Maren T. Scheuner, MD, MPH
Teresa M. Schroeder, BS, MBA
Musculoskeletal Clinical Regulatory Advisers, LLC
Deborah Shatin, PhD
Shatin Associates, LLC
Linda A. Bergthold, PhD
Santa Cruz, CA 95065
Eleanor M. Perfetto, PhD, MS
Evidence Based Strategies
Ralph Coates, PhD
Associate Director for Science
Office of Public Health Genomics
Centers for Disease Control and Prevention
Steve Gutman, MD
Professor of Pathology
University of Central Florida
Neil Holtzman, MD
Johns Hopkins Bloomberg School of Public Health