Edward McCabe, MD, PhD
Secretary's Advisory Committee
on Genetic Testing
National Institutes of Health
9000 Rockville Pike, Building 1, Room 103
Bethesda, Maryland 20892

Dear Chairman McCabe:

The American Association for Clinical Chemistry (AACC) welcomes the opportunity to comment on the Secretary's Advisory Committee on Genetic Testing's (SACGT's) December 12, 2000 proposed template of essential information for health care professionals on genetic tests. We support the committee's objective, namely to educate health care professionals about the benefits and limitations associated with each genetic test. Although the template, as drafted, is a good starting point, we believe that SACGT needs to clarify a number of issues regarding the purpose and implementation of this project.

Development of Fact Sheets
The document implies, but does not state, who is responsible for developing and maintaining the genetic test fact sheets. Our interpretation is that each laboratory would have to develop and maintain a fact sheet on each genetic test that it performs. Further, it appears that the FDA, or some other oversight body, would be responsible for reviewing and approving these data sheets. And, once the information sheet was approved, the laboratory would be responsible for providing it to its customers. AACC urges SACGT to clarify in any future documents if this assumption is correct and, if so, how it would work.

Further, we urge SACGT to do a small demonstration project involving a few laboratories, so that the panel can evaluate: (1) the time it would take a laboratory to gather the required data; and (2) the costs associated with compiling the data and updating the sheets. Also, the panel should consider the ability of the FDA (and/or other oversight bodies) to review and approve these data sheets in a timely manner. AACC agrees that health care professionals need to be educated about the genetic tests they order. We are concerned, however, that the process outlined by SACGT-given the panel's broad definition of a genetic test--may place a significant regulatory burden on many laboratories.

The December 12 notice states "the description should be written in a language that would be understandable to non-laboratorians." AACC requests that you define "non-laboratorians," so that we clearly understand the intended audience of this document. We assume you are referring to the ordering physician. But to eliminate any confusion, we recommend that you define this term in the document.

Clinical Utility
The proposal states that the genetic testing template, under the Clinical Utility section, should include information about whether a clinical intervention is available for individuals who test positive for the disease or condition, along with the evidence regarding its efficacy. Further, "other potential benefits associated with the knowledge of test results should also be described." Although SACGT mentions that it has not identified a specific source for providing this information, it does raise a number of questions.

For most of the elements, the laboratory is the most appropriate source of the data necessary for completing the template. However, for clinical utility, much of the information SACGT is requesting (i.e., available clinical interventions and benefits associated with knowing the test results) is probably best answered by the patient's physician or genetics consultant, not the laboratory. Assuming the laboratory is not the source of the data, would it be responsible for obtaining and submitting that data to the FDA? SACGT needs to specify what responsibilities are associated, if any, with being the "source of information" for the template.

Cost of Test and Billing/Reimbursement Information
SACGT proposes that the laboratory provide information to health care professionals on the costs of performing a test, as well as pertinent billing information, such as appropriate CPT codes. As the committee correctly notes, laboratories interact with many third-party payers and, therefore, may not have specific payment information on each test for each carrier. AACC recommends that the cost and payment data provided by the laboratory be limited to the laboratory's specific charges, the appropriate CPT codes and whether Medicare or Medicaid covers the test.

AACC recommends that the template, if adopted, be implemented in a two-tiered process:

  • The first step would involve requesting that laboratories provide the FDA with a list of the genetic tests they perform, the volume for each test and a general reference of the method.
  • The second step would involve the collection of data for the seven elements. However, the amount of data required for each element would depend on the Level of Scrutiny of the test. For example, the information requirements of a Level I test would be less than the data required for a higher scrutiny, Level II test.

AACC thinks that stratifying the process, as well as differentiating the information requirements, may reduce the regulatory burden on laboratories and improve overall compliance.

By way of background, AACC is the principal association of professional laboratory scientists--including MDs, PhDs and medical technologists. AACC's members develop and use chemical concepts, procedures, techniques and instrumentation in health-related investigations and work in hospitals, independent laboratories and the diagnostics industry nationwide. The AACC's objectives are to further the public interest and educational activities and to help maintain high professional standards.

If you have any questions or we may be of any assistance, please call me at (215) 662-6575 or Vince Stine, Director, Government Affairs, at (202) 835-8721.


Larry Kricka, D.Phil., F.A.C.B.,
C.Chem., F.R.S.C., F.R.C.Path.

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