Center proposes blueprint for genetic test registry

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Center proposes blueprint for genetic test registry

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A new paper in the journal Public Health Genomics argues that a mandatory

registry of genetic tests is a crucial first step toward increasing the quality

and transparency of genetic testing. The paper, written by Center staff members

Gail Javitt, Sara Katsanis, Joan , and Kathy Hudson, also lays out a

proposal for implementing such a registry.

Genetic tests now are available for more than 1700 conditions, and can form the

basis for decisions about disease treatment and prevention, and even whether or

not to have children. Yet oversight of genetic tests has not kept pace with the

increasing availability and complexity of such tests, as the Center has argued.

Though a registry on its own would not close that gap, it represents " a critical

first step in the development of a more transparent, quality-centered system of

oversight that will better inform and protect the public, " and would provide an

important tool for consumers and health care providers, the authors write. The

registry idea is not a new one, they note: the Secretary's Advisory Committee on

Genetics, Health, and Society in April 2008 recommended implementing a mandatory

registry, a recommendation that the Department of Health and Human Services

(HHS) has yet to act upon.

The authors propose several key features needed to make a new registry

effective:

1. It should be mandatory, with penalties imposed for noncompliance.

2. Both clinical laboratories, and test distributors that " either advertise

testing services beyond the laboratory's stated indications or provide

interpretation that is different from or additional to that which is provided by

the laboratory, " should be required to register.

3. For practical reasons, the registry initially should be limited to

genetic tests that are health related. Providers of tests for ultra-rare

disorders would be exempt from some reporting requirements that could be unduly

burdensome.

4. The registry would " contain information adequate to assess how reliable a

test is (analytic validity), how the results relate to current and future

disease risk or health status (clinical validity), and how useful the results

are in informing patient diagnosis or treatment or in disease prediction,

management, or prevention (clinical utility). "

The authors also address legal aspects to launching a registry. Both the Federal

Food, Drug, and Cosmetics Act and the Clinical Laboratory Improvement Amendments

confer on HHS the authority to establish a registry, they explain. Two potential

homes for the registry within HHS are the National Institutes of Health (NIH),

which has extensive expertise in registry development and implementation, and

the Food and Drug Administration (FDA), which has significant enforcement

capability. In either case FDA should be charged with enforcement, the authors

argue, as it has the ability to impose civil and criminal penalties for

non-compliance.

" The establishment of a test registry is critical for informed decision making

by health care providers, payers, and patients in both the United States and

other countries, all of whom need ready access to truthful information about

genetic tests, " the authors conclude. " It is a critical first step in the

development of a more transparent, quality-centered system of oversight that

will better inform and protect the public. " – a

Javitt, G., S. Katsanis, J. , and K. Hudson. 2009. Developing the Blueprint

for a Genetic Testing Registry. Public Health Genomics (published online ahead

of print).