Edward R.B. McCabe, MD, PhD
Secretary's Advisory Committee on Genetic Testing
National Institutes of Health
6000 Executive Boulevard, Suite 302
Bethesda, Maryland 20892

Dear Dr. McCabe:

The American Association for Clinical Chemistry (AACC) welcomes the opportunity to provide comments to the Secretary's Advisory Committee on Genetic Testing (SACGT) regarding the adequacy of existing federal regulation of genetic testing. AACC agrees that proper safeguards are necessary to ensure that patient testing, including genetic testing, is reliable and meaningful and the results confidential. However, we believe the existing regulatory framework provides substantial protection, thus a new, separate, regulatory structure would be redundant. Further, we believe this approach will promote consistency and harmony in what is already a complex area of law and regulation.

Existing Framework
Currently, the Centers for Disease Control and Prevention (CDC), the Health Care Financing Administration (HCFA), the Food and Drug Administration (FDA) and the Office for the Protection from Research Risks (OPRR) provide federal oversight for different aspects of the genetic testing process. CDC and HCFA oversee the testing process, OPRR and FDA jointly protect the rights of human research subjects through Institutional Review Boards (IRBs) and FDA regulates the analyte specific reagents (ASRs) that laboratories use to perform genetic testing

Ongoing Activities
Although the current framework has some weaknesses, a number of legislative and regulatory proposals are attempting to address some of these shortcomings. The Clinton Administration and many legislators support initiatives to ban health insurance discrimination on the basis of genetic information. AACC also supports such a ban. In addition, the Clinical Laboratory Improvement Advisory Committee, at the request of the National Institutes of Health (NIH) and Department of Energy (DOE) Task Force on Genetic Testing, recently recommended improvements to the CLIA'88 standards regarding genetic testing. These suggestions, if adopted, would create two new genetic testing subspecialties, raise the personnel standards for such testing and mandate proficiency testing, among other changes. This approach is consistent with AACC's recommendation that CLIA'88, an existing regulation, can be modified and strengthened to implement the recommendations of SACGT.

In addition, the Department of Health and Human Services (HHS) recently proposed new federal privacy rules to ensure the confidentiality of patient medical records, including genetic testing results. The new standards would specify what patient information providers and health plans can release, to whom and under what circumstances. And, providers would have to obtain patients' authorization before releasing identifiable protected health information. These new standards, once implemented, will only affect electronic records, due to a loophole in the 1996 law, which the President is requesting that Congress close. We agree that this loophole should be eliminated.

Separate Regulation of Genetic Testing
AACC is concerned that the SACGT, like its predecessor, the National Institutes of Health (NIH) and Department of Energy (DOE) Task Force on Genetic Testing, is attempting to make an artificial distinction between genetic testing and other types of laboratory testing. Both genetic and non-genetic testing use analytical techniques that isolate, characterize and/or quantify clinical analytes. All analytical techniques, whether measuring nucleic acids or any other analyte, can be subject to errors of imprecision and inaccuracy. Safeguards against these errors already exist under CLIA'88, which applies to all laboratory testing.

While the public may view genetic testing as a new source of healthcare information, it is important to recognize that testing for genetic disease has been commonplace for many years. Since 1963, laboratory professionals have been measuring the levels of phenylalanine in newborns to diagnose phenylketonuria (PKU). This genetic condition, if left untreated, can result in mental retardation. Also, other amino acid and carbohydrate measurements were developed in the 1960's and 1970's to identify and characterize many other genetic diseases, such tyrosinemia, galactosemia and homocysteinuria, etc. Given that CDC, HCFA and other regulatory agencies have provided effective oversight of these genetic tests for many years, we believe the existing regulations should be used as the foundation for any future regulatory oversight.

AACC also thinks that it is unwise and unworkable to implement differing levels of scientific and analytical scrutiny based on the intended use of a test. While it is theoretically possible to classify tests based on their purpose, in reality, tests that are initially ordered for one purpose are often used for different purposes. A test may be ordered to diagnose a disease, but when a genetic disease is confirmed or ruled out, that same information can be used subsequently to predict future health.

It is important to note that it is the laboratorians' responsibility to ensure that all tests are done under the appropriate regulatory framework. In-house assays, including all genetic tests, are rigorously controlled at each step from specimen receipt to final report. CLIA '88 also requires that laboratories confirm the clinical accuracy and precision of these test results before implementing them. Thus, we do not believe that genetic tests should be subject to a different set of rules governing accuracy and precision when the existing regulatory framework can easily be adapted for this purpose.

Patients' Rights
We believe that the public wants: (1) more and better information on genetic testing and how it can be used to improve their health; (2) to ensure that access to genetic testing results is limited to appropriate personnel; and (3) assurance that those results will not be used to deny employment or health insurance.

AACC agrees that patients have a right to be informed of the reasons for, and the possible implications of, their laboratory tests (such as genetic tests). The physician or health care professional ordering the test should provide this information to the patient. We also support greater physician education in this area given that much genetic testing is relatively new and a rapidly expanding specialty within laboratory medicine.

We also suggest that the health care professional requesting the laboratory test should obtain written informed consent from the patient when ordering genetic testing for assessing predisposition to or risk of inherited disease. AACC supports efforts to strengthen and further define medical privacy standards for patient results. We believe the best approach is to develop a better regulatory structure for all patient data, not just genetic results. For example, why should genetic test results indicating that an individual has a greater probability of developing colon cancer receive greater protection than non-genetic test results indicating that someone has AIDS or contracted a sexually transmitted disease? AACC believes that all patient results should receive equal protection.

AACC also supports the passage of federal legislation to prohibit health insurance discrimination on the basis of genetic information. We urge SACGT to do likewise.

AACC supports the continuation of the longstanding clinical practice that permits laboratories to maintain a specimen for clinical research once the requested test is performed, as long as patient identifiers are removed. Also, AACC does not believe that investigators should be required to obtain informed consent in order to conduct genetic research using archived, anonymous samples. The use of anonymous samples is vital to ensuring the quality of laboratory testing. Further, such a restriction could limit scientists' ability to conduct research into new and improved test development. We believe that the use of patient samples is already adequately regulated by HHS under Title 45, part 46.101 (b) of the Code of the Federal Register, Protection of Human Subjects.

Other Recommendations
AACC encourages CDC and HCFA to work with private accrediting bodies and associations to draft and disseminate clinical guidelines to assist laboratories in determining the appropriate uses for genetic tests. In addition, AACC recommends that proficiency testing be extended to genetic tests, where available. The College of American Pathologists and American College of Medical Genetics already have existing programs in place to assist in this endeavor.

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 (919) 684-8724 or Vince Stine, Director, Government Affairs, at (202) 835-8721.



Frank A. Sedor, PhD President

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