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.