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

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Abstract - Draft

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

Topic Abstract


With the completion of the human genome sequence, the development and utilization of gene-based tests are expected to proliferate. These tests may be used to help make early diagnosis, improve risk prediction, and target therapies for both traditional gene-based disorders as well as common chronic diseases. Thus, data are needed for public health surveillance of the utilization of gene-based tests to be able to monitor trends in use, appropriateness of use, and potential disparities in utilization. Health care policymakers, providers, and payers need data on how specific genetic tests and related interventions impact short- and long-term health outcomes, including information on cost-effectiveness. Information, however, is currently lacking on the use of gene-based tests and the outcomes of clinical interventions based on these tests.


Our objectives were twofold: (1) to conduct an assessment of existing databases in the US health care system for monitoring the utilization and outcomes of gene-based applications (including tests and related interventions) in the health care system; and (2) to provide recommendations to establish appropriate and practical systems to assess use and outcomes of gene-based clinical applications.

Current Databases

The assessment included targeted reviews of the published and gray literature, discussions with key informants (some of whom formed a Technical Expert Panel [TEP] to provide additional guidance to the project), and information gathering about the capabilities of specific databases and surveillance systems. The project also included a small workshop in which experts and stakeholders discussed the initial findings of the assessment, gave their input on the strengths and weaknesses of different options and approaches for monitoring gene-based applications, and developed recommendations for future research and development.

Only limited, sporadic information is available on the utilization of gene-based tests over time. Some research and surveys suggest that knowledge on the part of some providers about the availability and utility of tests may be reasonably widespread and accurate. 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. Finally, 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.

Recommendations and Future Directions

We identified no databases that could provide all the information desired about gene-based testing broadly. Current databases might be used alone or in combination to address specific questions about gene-based testing, although whether they would provide an adequate "monitoring" capability remains unclear. 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; and reducing the proprietary and regulatory barriers that inhibit sharing of data. The needed technical advances, such as standards to facilitate database interoperability, are beginning to be addressed by national initiatives to improve health information technology and promote personalized health care.

To further the development of databases for monitoring utilization and outcomes of gene-based applications, the following recommendations are made for additional research and development:

  • Improve the coding of gene-based tests in many of the relevant databases so that the test type, reason for the test, and test results can be readily determined;
  • Develop or adopt standards for the proper collection and storage of data from genetic testing laboratories for archiving the tests performed and facilitating interoperability between databases;
  • Explore the possibility of adding questions to ongoing surveys or developing new surveys to monitor the availability of genetic testing centers, adequate counseling, and barriers to accessing counseling services;
  • Consider establishing a survey of genetic testing laboratories similar to the National Ambulatory Medical Care Survey (NAMCS) for medical clinics and the National Hospital Discharge Survey (NHDS) for hospitals; and
  • Develop pilot studies for a small set of diseases and tests.

Ultimately, the development and operation of databases and other data collection efforts to monitor utilization and outcomes of gene-based tests and related interventions will require public trust and support. This in turn will require confidence in the security built into the databases or information systems to protect personal health information and an understanding of the value of the databases in improving personal health care.