By Jean Amos Wilson, PhD Chair, Professional Relations Committee e-mail: jamoswilson@bhlinc.com

As I write this article, the Professional Relations Committee (PRC) is in the midst of several discussions that will form the basis for our position on a mandatory registry of most molecular laboratory developed tests (LDTs), the only exceptions being ultra-rare disorders.  It is likely that we will finalize our thinking in the next two months but I want to take this opportunity to present the a simplified summary of the issues to the membership in advance of our position so that you can appreciate the impact of a registry to our practice and the complexity of our discussions.  A mandatory registry will affect each and every one of our clinical members who are developing and performing molecular tests for heritable disorders, molecular oncology and pathogen detection.

Earlier this year, the Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) recommended a mandatory, web-based registry for laboratory developed genetic tests but concluded that there are many unresolved issues, including logistic and legal questions, that must be addressed before the federal government could decide how and where to implement this recommendation.  The SACGHS recommendation received broad support from stakeholders, including American Clinical Laboratory Association (ACLA) and American Association for Clinical Chemistry (AACC).  Both College of American Pathologists (CAP) and American College of Medical Genetics (ACMG) noted that such a registry raises concerns about genetic exceptionalism and could also potentially impose a financial burden to laboratories. We anticipate a formal statement from CAP on this issue in the near future and will align our position with them, if appropriate. 

The groups that are calling for a registry, most notably the Genetics and Public Policy Center, make several good points.  This group promotes a registry to enhance the transparency of information about molecular testing to the public.  Simply put, they request data elements that are already a part of our test strategic planning and validation, such as testing indications, analytic validity, clinical validity and clinical utility.  Properly organized and templated, this information could be provided concisely with relatively little added burden, since these data are already included in the test documentation that we store in our laboratories.  However, this could also be a huge burden for laboratories if the work flow for the provision of the data elements is not properly designed.  Open questions include the agency that would house the registry, whether the agency would review the submitted material and the jurisdiction of the selected agency for enforcement. 

On the other hand, the Genetics and Public Policy Center has alienated the most responsible members of the testing community to justify the registry by strident and inflammatory statements that refer to the current system of oversight as “fragmented”, “anemic” and worse.  Moreover, this group does not distinguish between providers of direct to consumer testing, who may offer tests with dubious clinical validity/utility and the high quality, CLIA-certified and often both CAP- and NYSDOH-accredited laboratories that comprise the AMP membership. Finally, it is unclear to me how the registry might be used by payers to make reimbursement decisions.  Given these issues and outstanding questions, it is no wonder that even the mention of a registry makes our hair stand up.  

It is my hope that AMP will find a way to keep the registry dialogue open so that our voice will enhance patient safety and testing quality but also maintain our nimbleness to develop the LDTs that are the backbone of molecular testing.  For more on the topic of LDTs, I refer you to Jan Nowak’s President’s Message in the February 2009 issue of the AMP Newsletter, in which he describes the role of LDTs in pathology laboratory medicine and their significance for the advancement of medical science.  We just need to keep our facts straight and not succumb to the high level of emotion and fear that has become embedded in this topic.  It is imperative that AMP be recognized as a key stakeholder in development of the registry. 

Stepping off my soapbox, I would also encourage you to view our recent PRC activities on the PRC tab of the AMP website. These activities include:

• Principles for Healthcare Reform
• Priorities for comparative effectiveness research (CER)
• Comments to SACGHS on infrastructure CER and laboratory tests, bench to bedside, laboratory performance standards and gene patents/licensing practices
• Comments to Clinical Improvement Advisory Committee (CLIAC) regarding community-based H1N1 testing in AMP-member laboratories
• And more!

Finally, we were delighted to provide feedback, most of it accepted, to the provisions of House draft of the Genomics and Personalized Medicine Act (GPMA), sponsored by Patrick Kennedy (D, RI), in which we stated as below; although this specific proposal was not accepted, this statement reflects the needs and desires of our membership:

“AMP feels that the issue of oversight & regulation of genetic testing is a challenging area of policy and one that would best be served with its own stand-alone legislative proposal. Since the earliest versions of the GPMA, AMP has been very supportive of the many provisions to expand and accelerate genomics and personalized medicine. We fear that the inclusion of a section that would establish a new regulatory mechanism would delay the passage of the other much needed provisions in the bill due to the controversy it would elicit. While we agree that oversight of diagnostics needs to be addressed, we feel that the GPMA is not the appropriate vehicle for this issue to be explored. Hence, we offer to work with you to develop a separate piece of legislation on the oversight of genetic tests. AMP is supportive of the comparative analysis of existing regulatory processes carried out under current FDA practice and CLIA. The sometimes-conflicting requirements and redundancy slows innovation and an analysis would be a strong first step in addressing this concern.”

In closing, this is the last article that I am submitting as Chair of PRC.  It has been a very busy and productive two years for the Committee and the time has passed very quickly.  It has been a pleasure working with this very fine and diverse Committee and I know that we will be in good hands with your new Chair, Elaine Lyon.  Please accept my sincere thanks for the opportunity to serve AMP in this capacity.