PERSPECTIVE

Standards for Personalized Medicine

Sharon F. Terry

In a recent hearing of the U.S. House of RepresentativesScience and Technology Committee, I had the opportunity

to testify about genetic testing and other innovative technol-ogies as the Committee considered the issue: How our NationalInstitute of Standards and Technology (NIST) can more effectivelyinfluence innovation in life sciences.

I told the Committee that I believe that the success of thebiomedical research enterprise and America as a leader ininnovation depends on NIST providing standards uponwhich to build personalized medicine, including high qualityprecision molecular diagnostics.

Currently, each developer or service laboratory offeringgenetic tests maintains its own standards, leading to incon-sistencies between providers, laboratories, protocols, andtest results. Americans believe that they are receivinghealthcare in the form of diagnostic tests that are highquality, accurate, valid, useful, and consistent. No doubt inmost instances they are, but since there are limited ways tocompare one laboratory’s protocol to another, or one test toanother, there is no certainty in this supposition. Mostmeasurements are relative, internal to one laboratory, onestate (in the case of newborn screening), or one technologycompany. Every manufacturer applies relevant measure-ment technology with their own standard references andcontrols and as a result makes comparisons of truth andaccuracy extremely difficult to assess, if not impossible insome circumstances.

In some instances, these technologies, genetic testingamong them, are quickly migrating into complex clinicalcircumstances and having a dramatic impact on decision-making. These applied technologies have far and awayoutpaced the current state and federal oversight regimes andregulatory schemas. We need new measurement and infor-mation standards up to the task of 21st century genomicmedicine.

The current standard for laboratory performance in theUnited States is the Clinical Laboratory ImprovementAmendment (CLIA). CLIA is structured in such a way thatlaboratories can create their own internal standards andquality systems. At the present time, almost every singlestandard for every single test is unique to the test provider.This has created an untenable morass of controversy andconfusion. Only a small number of standard analytes existupon which the 2700 genetic tests currently listed in GeneTests(www.ncbi.nlm.nih.gov=sites=GeneTests=?db¼GeneTests)

are based. Because of the variability of methods across thelabs performing these tests in the United States and beyond,the actual number of unique tests might be closer to hun-dreds of thousands. Further, the current online catalogof tests is voluntary, with a vast number of tests beingoffered to patients not being on the list. Over the last fewyears, many organizations and advisory bodies have calledfor a mandatory national test registry. Without such a systemwe are only guessing at who is doing genetic testing, whattests are being used, and how genetic testing is being de-livered to patients today.

Organizations such as NIST could work with industry,professional associations, and medical specialty societies tohelp create a benchmark for accuracy in measurement sciencethat would bring biomedical research and technologies a levelof evidence they sorely need to move, with confidence, intothe era of personalized medicine.

In all cases, handling, storage, and preparation methods allhave influence on the accuracy of a laboratory measurement.It is very difficult to control for all these dynamically complexvariables in a measurement science. In reality, NIST has beenorganizationally paralyzed in part because of the large num-ber of variables, technologies, and all manner of testing ap-proaches. It is bewildering to figure out where to start, andthe agency seems to be overwhelmed by the challenge. If thebiomedical testing universe is too big for everything to betackled at once, then NIST should begin by producing meth-ods and consensus standards as a first stage for instance.

The human genome, in all of its complexity, is a fixedrepository. It is a recipe for biological processes that has23,000 functioning genes and probably 100,000 alternatetranscripts that could be mapped today and catalogued.Many of these genes and their alterations will be linked tovarious diseases and delivered as genetic tests within thenext few years. NIST could collaborate in a much more ef-fective way with the U.S. Food and Drug Administration(FDA) in the submissions they receive and integrate stan-dards more frequently into the regulatory regime. Certainlyat first we would be demanding more of a near perfectionstandard from these new technologies than what was clearedunder the FDA’s predicate standard, but one hopes sciencemoves us all forward.

These technologies, in genetics, genomics, laboratoryscience and imaging, are migrating into health care viamultiple avenues. It is critical that patients know that these

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healthcare services are based on the certitude that onlystandards can bring.

In this age of emerging personalized medicine, deliveredthrough new technologies to patients today, we cannot waitany longer, having far outstripped the standards available tobiomedical enterprises. Feeling the urgency of the hundredsof millions of people who need answers today, I know weneed excellent leadership in an exceptional age. Let us takethis charge seriously. Every one of us has a role to play.

Address correspondence to:Sharon Terry, M.A.President and CEO

Genetic Alliance4301 Connecticut Avenue, NW

Suite 404Washington, DC 20008

E-mail: sterry@geneticalliance.org

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