Genetic Tests for Cancer Diagnosis

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." CMS has commissioned technology assessments (TAs) on two types of genetic tests. The first TA examined DNA- or RNA-based tests which are likely to predict the tissue of origin in patients presenting with a cancer of unknown primary site (CUP). The second TA examined fluorescent in-situ hybridization (FISH) tests for cancer/pre-cancer in patients with atypical squamous cells of unknown significance (ASCUS) or low-grade squamous intraepithelial lesions (LSIL) in cytological specimens from the uterine cervix.

CMS will convene the panel to consider the evidence about these two types of genetic tests for cancer diagnosis.

February 13, 2013

February 27, 2013

March 5, 2013

April 1, 2013

April 26, 2013

May 06, 2013

May 30, 2013

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Rita Redberg, MD, MSc, Chair
Art Sedrakyan, MD, PhD, Vice Chair
James Rollins, MD, PhD, Director, Division of Items and Devices, Coverage and Analysis Group
Maria Ellis, Executive Secretary

7:30 – 8:00 AM

8:00 – 8:10 AM

8:10 - 8:20 AM

8:20 – 8:50 AM

8:50 – 9:10 AM

9:10 – 9:40 AM

9:40 – 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.

11:00 – 11:15 AM

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

11:15 – 12:00 PM

12:00 – 1:00 PM

1:00 – 2:00 PM

2:00 – 3:00 PM

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

3:00 – 4:00 PM

4:00 – 4:30 PM

On May 1, 2013, the Medicare Evidence Development and Coverage Advisory Committee (MEDCAC) will consider evidence about two types of genetic tests used for cancer diagnosis:

1. DNA- or RNA- based tests to predict the likely tissue of origin in patients presenting with a cancer of unknown primary site (‘CUP’ tests); and
2. Fluorescent in-situ hybridization (‘FISH’) tests for cancer/pre-cancer in patients with atypical squamous cells of unknown significance (ASCUS) or low-grade squamous intraepithelial lesions (LSIL) in cytological specimens from the uterine cervix.

Outcomes of interest for CMS of FISH are histologic confirmation of higher-grade cervical intraepithelial neoplasia ('CIN') on biopsy, overall survival, mortality, avoidance of harms of anti-tumor treatment, quality of life and others.

Outcomes of interest for CMS of CUP are tumor recurrence, overall survival, mortality, avoidance of harms of anti-tumor treatment, quality of life, and others.

For each part of voting questions 1-3 below, please use the following scale identifying your level of confidence - with a score of 1 being low or no confidence, and 5 representing high confidence.

1. How confident are you that existing evidence is sufficient to confirm the clinical validity (defined as how reliably test results is associated with the presence of the disease or target condition) of each of the following?

1. DNA- or RNA-based testing to predict tissue of origin for CUP.
2. ‘FISH’ testing for cervical cancer/pre-cancer in patients with atypical squamous cells of unknown significance (‘ASCUS’) / low-grade intraepithelial squamous lesion (‘LSIL’).

2. How confident are you that there is sufficient evidence to determine whether genetic testing of tumor tissue affects health outcomes (including benefits and harms) for patients with cancer whose anticancer treatment strategy is guided by the results of each of the following?

1. DNA- or RNA-based testing to predict tissue of origin for CUP.
2. FISH testing for cervical cancer/pre-cancer in patients with ASCUS/LSIL.

If the answer for either part of Question 2 is at least in the ‘Intermediate’ range (i.e., mean score is 2.5 or more) please vote on the corresponding part(s) of question 3.

3. How confident are you that there is sufficient evidence to conclude that genetic testing of tumor tissue improves overall health outcomes (including benefits and harms) for patients with cancer whose anticancer treatment strategy is guided by the results of each of the following?

1. DNA- or RNA-based testing to predict tissue of origin for CUP.
2. FISH testing for cervical cancer/pre-cancer in patients with ASCUS/LSIL.

4. Please discuss whether the evidence as presented may be generalized based on each of the following factors:

1. Regulatory status of test (e.g., FDA approved/cleared vs. laboratory-developed test)?
2. Site of testing (e.g., university medical center or commercial laboratories vs. community based laboratories)?
3. Patient subgroups within the Medicare beneficiary population (e.g., age)?

5. Please identify and discuss any evidence gaps in assessing outcomes of interest to CMS for both

1. DNA- or RNA-based testing to predict tissue of origin for CUP, and
2. FISH testing for cervical cancer/pre-cancer in patients with ASCUS/LSIL.

6. Please comment on whether CMS should encourage development of additional evidence relevant to coverage determinations for

1. DNA- or RNA-based testing to predict tissue of origin for CUP, and
2. FISH testing for cervical cancer/pre-cancer in patients with ASCUS/LSIL.

Download scoresheet.

Rita Redberg, MD, MS Chair
Professor of Medicine
UCSF School of Medicine
Division of Cardiology
University of California, San Francisco Medical Center

Art Sedrakyan, MD, PhD Vice Chair
Associate Professor and Director
Patient Centered Comparative
Outcomes Research Program
Weill Cornell Medical School

David C. Beyer, MD, FACR
Vice President
Radiation Oncologist
Arizona Oncology Services, Inc.
Scottsdale Radiation Oncology

Mary A. Blegen, RN, PhD, FAAN
Professor Emerita
University of California, San Francisco

Steven Gutman, MD
Strategic Advisor
Myraqa Inc.

David Howard, PhD
Associate Professor
Department of Health Policy and Management
Emory University

Pamela R. Massey, Pt, MS
Physical Therapist

Jan Nowak, PhD, MD
Clinical Assistant Professor of Pathology
Department of Pathology and Laboratory Medicine
NorthShore University HealthSystem
University of Chicago

James Rizzo, MD, MS
Associate Scientific Director
Professor of Medicine
Bone Marrow Transplantation Program
Division of Hematology and Oncology
Department of Medicine
Center for International Blood and
Marrow Transplant Research (CIBMTR)
Medical College of Wisconsin

Amy E. Sanders, MD, MS
Assistant Professor
Department of Neurology/Einstein Aging Study
Albert Einstein College of Medicine

A. Oliver Sartor, MD
Medical Director
Tulane Cancer Center
C.E. Bernadine Laborde Professor of Cancer Research
Departments of Medicine and Urology
Tulane Medical School

Eric C. Stecker, MD
Assistant Professor of Medicine
Cardiovascular Medicine and Electrophysiology
Director
CCU and Inpatient Cardiology Services
Division of Cardiovascular Medicine
Oregon Health and Science University

Sandra L. Wong, MD, MS
Department of Surgery
Division of Surgical Oncology
University of Michigan Medical School

Industry Representative
Martin D. Marciniak, MPP, PhD
Vice President
US Health Outcomes
GlaxoSmithKline

Guest Panel Members

Barbara Conley, MD
Associate Director
Cancer Diagnosis Program
Division of Cancer Treatment and Diagnosis
National Cancer Institute
National Institute of Health

Dorothy L. Rosenthal, MD, FIAC
Professor of Pathology, Oncology and Gynecology/Obstetrics
Johns Hopkins School of Medicine

Invited Guest Speakers

Barbara Conley, MD
Associate Director
Cancer Diagnosis Program
Division of Cancer Treatment and Diagnosis
National Cancer Institute
National Institute of Health

Sreelatha Meleth, PhD
Senior Research Statistician
Social Statistical and Environmental Sciences
RTI International

Dorothy L. Rosenthal, MD, FIAC
Professor of Pathology, Oncology and Gynecology/Obstetrics
Johns Hopkins School of Medicine

Katrin Uhlig, MD, MS
Attending Physician
Division of Nephrology
Tufts Medical Center
Associate Professor
Tufts University School of Medicine

Nedra Whitehead, PhD, MS, CGC
Senior Genetic Epidemiologist
Statistics and Epidemiology
RTI International

CMS Liaison

James Rollins, MD, PhD
Director
Division of Items and Devices
Coverage and Analysis Group

Executive Secretary

Maria Ellis
Coverage and Analysis Group

• E. Robert Wassman, MD, FAAP, FACMG, Chief Medical Officer, Rosetta Genomics



• Margaret Havens Neal, MD, FCAP, Pathologist with KWB Pathology Associates, Tallahassee FL, Member, Economic Affairs Committee, College of American Pathologists



• Bernard H. Berins - No Powerpoint Presentation



• F. Anthony Greco, MD, Sarah Cannon Cancer Center and Research Institute



• Lawrence M. Weiss, MD, Chairman Emeritus, Department of Pathology, City of Hope National Medical Center, Senior Consultative Pathologist, Clarient, Inc.



• Catherine Schnabel, MD, Vice President, Medical, Clinical & Regulatory Affairs, bioTheranostics, Inc.