DEcIDE Research: Infrastructure to Monitor Utilization and Outcomes of Gene-Based Applications: An Assessment

More than 1,000 gene-based tests are now clinically available, with an additional 300 available for research purposes only. By 2009, the world market for gene-based testing is expected to reach $12.5 billion.

With the completion of the human genome sequence, the development and utilization of gene-based tests is expected to proliferate. These tests may be used to help make early diagnoses, improve risk prediction, and target therapies for both traditional gene-based disorders and common chronic diseases.

However, much remains unknown about the effectiveness and appropriate use of these tests. Information is currently lacking on the use of gene-based tests and the outcomes of clinical interventions based on these tests. A first step toward obtaining this information is to gain understanding of trends in use, appropriateness of use, and potential disparities in use of these tests.

The EHC Program commissioned the RTI International DEcIDE Center to approach this topic in two ways. The first was to conduct an assessment of existing databases in the U.S. health care system for monitoring the utilization and outcomes of gene-based applications. Second, the RTI group developed recommendations to establish appropriate and practical systems to assess the use and outcomes of gene-based clinical applications.

The study found that only limited, sporadic information is currently available on the utilization of gene-based tests. Some research suggests that knowledge on the part of some providers about the availability and utility of tests may be reasonably widespread and accurate. However, little or nothing is known about the extent to which patients and their families are aware of tests and knowledgeable about their benefits and harms. Also, there are few longitudinal data to indicate the benefits and risks of using genetic tests to guide interventions and medical decisions, such as in the selection of therapies, and their short- or long-term outcomes. A number of challenges will have to be addressed before the ideal of being able to compile and link data from existing health databases and surveys for public health surveillance and health services research can be realized. These include:

• Developing standard codes for genetic tests and database architecture standards to allow interoperability between databases,
• Addressing concerns about privacy and confidentiality,
• Reducing the proprietary and regulatory barriers that inhibit sharing of data.
   

You can view a copy of the full report, "Infrastructure To Monitor Utilization and Outcomes of Gene-Based Applications: An Assessment."