MEDCAC Meeting

Genetic (Genomic) Testing


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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.”

Actions Taken

December 11, 2008

Announced meeting

December 22, 2008

Posted Federal Register Notice.

January 30, 2009

February 23, 2009

Posted agenda and roster.

February 27, 2009

Posted scoresheet [PDF, 37KB]

April 6, 2009

Posted transcript [PDF, 979KB] and minutes [PDF, 133KB] from meeting.


Medicare Evidence Development & Coverage Advisory Committee
February 25, 2009
7:30 AM - 4:30 PM
CMS Auditorium

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

Opening Remarks—M. Ellis/ S. Phurrough, MD, MPA/
Barbara McNeil, MD, PhD

8:20 - 8:35 AM

CMS Presentation & Voting Questions - Maria Ciccanti/Jeffrey Roche, MD, MPH

8:35 - 9:20 AM

TA Presentation: Thomas A. Trikalinos, MD, PhD, Assistant Director, Tufts-New England Medical Center, EPC, Assistant Professor of Medicine, Tufts University

9:20 - 10:00 AM

Ralph J. Coates, PhD, Associate Director for Science, Office of Public Health Genomics, NCCDPHP, Centers for Disease Control and Prevention

10:00 - 10:15 AM


10:15 - 11:00 AM

Scheduled Public Comments
(Refer to Speaker List)

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

Open Public Comments

Public Attendees who wish to address the panel will be given that opportunity

11:35 - 12:35 PM

LUNCH (on your own)

12:35 - 1:35 PM

Questions to Presenters

1:35 - 2:45 PM

Initial Open Panel Discussion: Dr. McNeil

2:45 - 3:30 PM Formal Remarks and Voting Questions

The Chairperson will ask each panel member to state his or her position on the voting questions

3:30 - 4:25 PM

Final Open Panel Discussion: Dr. McNeil

4:25 - 4:30 PM

Closing Remarks/Adjournment: Dr. Phurrough & Dr. McNeil

4:30 PM



Download meeting minutes [PDF, 133KB]

Panel Voting Questions

Questions for MEDCAC: Desirable Characteristics of Evidence
For Diagnostic Genetic (including Genomic) Tests

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.

    • Diagnostic assessment
    • Prognostic assessment
    • Pharmacogenomic assessment

    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.

    1. Changes in physician-directed patient management
    2. Indirect or intermediate healthcare outcomes e.g., changes in laboratory test results such as hemoglobin or time to achieve a target value
    3. Direct patient-centered healthcare outcome e.g., mortality, functional status, adverse events

    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?

    Please discuss the existence, relevance, and impact of such issues.

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:

  1. The first, in February 2009, seeks guidance on the types of evidence on which to base coverage decisions relating to diagnostic uses of genetic testing (see examples below) as it may apply to improving health outcomes in the Medicare beneficiary population.
  2. The second, tentatively scheduled for May 2009, will focus on screening uses of genetic testing and its potential application to Medicare beneficiaries. Further clarification of specific issues which CMS asks this MEDCAC session to consider will be available later.

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:

  • Diagnostic assessment: for example, testing for the variant of the gene HD associated with Huntington’s disease;
  • Prognostic assessment: for example, assessment of gene expression in tumor tissue to evaluate likelihood of distant recurrence in patients with early-stage breast cancer; and
  • Pharmacogenomic assessment: for example, testing for variants in the K-ras gene which indicated absent response to certain chemotherapy for colorectal cancer (e.g., cetuximab).

A table briefly summarizing recent articles on each genetic test cited above is included below.

Use of Genetic Test and Example: Summary:

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.


  1. Walker FO. “Huntington’s Disease”. Lancet 2007; 369: 218–28.
  2. EGAPP Working Group. “Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer?” Genet Med 2009 January; 11(1): 66-73.
  3. Allegra CJ, Jessup JM, Somerfield MR, et al. “American Society of Clinical Oncology Provisional Clinical Opinion: Testing for KRAS Gene Mutations in Patients with Metastatic Colorectal Carcinoma to Predict Response to Anti–Epidermal Growth Factor Receptor Monoclonal Antibody Therapy”. American Society of Clinical Oncology, Alexandria, VA, 2008. Downloaded on 1/21/2009 from
Download scoresheet [PDF, 37KB]

Other Material


February 25, 2009

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
Assoicate Professor
Department of Cardiovascular Medicine
The Cleveland Clinic Foundation

Marion Danis, MD
Bioethics Consultation Service
NIH Clinical Center

Catherine Eng, MD, FACP
Medical Director
On Lok Lifeways

Mark D. Grant, MD, MPH
Associate Director
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
RAND Corporation

Teresa M. Schroeder, BS, MBA
Clinical Affairs
Musculoskeletal Clinical Regulatory Advisers, LLC

Deborah Shatin, PhD
Shatin Associates, LLC

Consumer Representative
Linda A. Bergthold, PhD
Santa Cruz, CA 95065

Industry Representative
Eleanor M. Perfetto, PhD, MS
Senior Director
Evidence Based Strategies
Pfizer, Inc.

Guest Speakers
Ralph Coates, PhD
Associate Director for Science
Office of Public Health Genomics
Centers for Disease Control and Prevention

Guest Panelists
Steve Gutman, MD
Professor of Pathology
University of Central Florida

Neil Holtzman, MD
Johns Hopkins Bloomberg School of Public Health