Oversight of Genetic Testing: An Update

Autor: Debra G.B. Leonard, Andrea Ferreira Gonzalez, Carleton T. Garrett, Karen L. Kaul
Rok vydání: 2001
Předmět:
Zdroj: The Journal of Molecular Diagnostics. 3:85-91
ISSN: 1525-1578
DOI: 10.1016/s1525-1578(10)60656-3
Popis: From the Editor: Our world is changing, and our field is changing with it. Each new advance in technology, each new application, each step forward in automation and reduction in time and work required to perform molecular testing expands the potential of molecular diagnostics to impact the clinical management of patients and their families. The completion of the Human Genome Project will propel our field forward rapidly, and has already had a major impact in raising the visibility of our field in the public eye. Concomitantly, we have become more visible to government and regulatory agencies as well. Many of you have carefully followed the discussions of the Food and Drug Administration (FDA) over the years, and more recently the deliberations of the Secretaries Advisory Committee on Genetic Testing (SACGT) and the Clinical Laboratory Improvement Advisory Committee (CLIAC). Both groups have been at work these past two years, discussing the means by which genetic testing should be ordered, performed, reported, and overseen in the United States. Obviously, the results of their discussions would have enormous implications for those involved in molecular diagnostics. The primary concern leading to the establishment of SACGT approximately two years ago was protection of the public from harm due to inappropriately used or performed genetic testing. SACGT is a federally mandated group acting under the auspices of the Secretary of Health and Human Services. They hold that increased oversight of genetic testing is necessary, particularly since much of genetic testing is currently done via methods developed by individual laboratories and not by FDA-approved kits, and have recommended that the FDA be the agency to provide this oversight. In their deliberations, the definition of genetic test is very broad and would include both somatic and germline alterations. They have worked to develop a mechanism by which tests could be stratified based on their intended use and potential impact on patient care. In theory, this would allow triaging of “high-risk” tests such as those for Huntington’s disease or BRCA1 into a high scrutiny category necessitating high level oversight, whereas less critical tests such as Factor V Leiden, for example, would require a lower intensity scrutiny. Such algorithms have thus far proven unwieldy and ineffective for risk stratification, however, in part due to the multiple intended uses for many of these assays (disease confirmation, prenatal assessment, carrier detection, population screening, etc) and thus are still under discussion. SACGT holds firmly that some sort of FDA approval mechanism is needed before these tests can be applied to clinical decision-making. Numerous professional groups have responded to SACGT and have worked with the FDA through the FDA-Professional Organization Roundtable discussions in an effort to help develop a practical oversight plan. Many of these groups, including the Association for Molecular Pathology (AMP), hold that existing mechanisms for laboratory accreditation and oversight are best suited to be the nidus for any new oversight programs. Laboratories performing clinical testing must currently be certified by the College of American Pathologists (CAP) and Clinical Laboratory Improvement Act (CLIA). Inspection and accreditation of laboratories by CAP provides a very detailed assessment of laboratory and quality control practices in molecular diagnostics laboratories. For example, laboratories are required to keep on file details and data of validation studies for each assay performed. CLIA requires additional quality-oriented practices. At the FDA Roundtable discussions, a genetic “template” was developed that could be used to help gather data on the use, performance, interpretation, and reporting of a genetic test. The template was very well received by SACGT, and discussion is underway regarding utilization of this template. The template would certainly help to gather and organize information on genetic testing and detailed laboratory practices, but numerous questions remain unanswered regarding further benefits of implementing use of the template. Would this move truly improve the quality of genetic testing in the United States, and in doing so, protect the public? Or would it duplicate existing regulatory mechanisms such as CAP accreditation, add to the administrative burden and cost of the labs, and thus limit public access to genetic testing? The views of AMP were presented at the most recent SACGT hearing in May 2001 by Dr. Debra Leonard, Past-President of AMP; her comments follow this introduction. Another federal group active in this arena is CLIAC. CLIAC has focused on defining genetic testing and addressing pre- and postanalytic issues in genetic testing, such as informed consent and reporting of results. Of note is that the definition of a genetic test put forth by CLIAC is extremely broad, to include not only nucleic acids but also proteins and metabolites. The recommendations of CLIAC are discussed in more detail by Dr. Andrea Gonzalez, Chair of the AMP Policy Committee, in the update to follow. During the coming months, much will become clear with these various regulatory issues. I anticipate that we will be satisfied with some aspects of the increased oversight, and very dissatisfied with others. Regardless of the outcomes, we will have to find ways to live with the recommendations of these committees. In the meantime, we must remain actively involved, commenting and working with federal agencies when possible to effect workable solutions. In the end, better patient care is the goal for all of us.
Databáze: OpenAIRE
Externí odkaz: