2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Next-Generation Health Technology Assessments: Rapid Evidence Assessments Provide Timely Data-driven Guidance on Genetic and Genomic Tests

Pdf Summary

Health technology assessments (HTAs) are crucial for evidence-based decision-making in medicine, but the lengthy timeframe required to produce them can be a hindrance, especially for genetic and genomic tests. To address this issue, ECRI has developed methods for rapidly producing actionable rapid evidence assessments. These assessments provide timely information on the benefits and harms of testing, facilitating evidence-based decisions while considering nonevidentiary factors specific to genetic and genomic tests.<br /><br />In the field of genetics and genomics, tests often become available through the laboratory-developed test (LDT) pathway, which allows for rapid market access with minimal oversight. As these tests are frequently updated, new or updated assessments may be required. Rapid evidence assessments offer a shortened turnaround time, ensuring that stakeholders stay up-to-date with the most relevant literature.<br /><br />These assessments help stakeholders make unbiased and informed decisions by identifying evidence gaps and limitations. This information allows for prioritization of critical areas for future research. The assessments consider the key question, available evidence, and clinical context, culminating in an Evidence Bar that visually represents the strengths and limitations of the evidence.<br /><br />The Evidence Bar is based on the concepts of the GRADE strength-of-evidence rating system, providing a simplified overview of the evidence's limitations and strengths. While less detailed, the Evidence Bar enables faster turnaround time.<br /><br />Rapid evidence assessments employ the best available evidence approach, excluding lower-quality studies that do not contribute useful information to assess a test's clinical value. They feature the Evidence Bar, as well as outcomes and comparisons of interest, providing comprehensive and systematic assessment.<br /><br />These assessments address specific clinical questions using the PICOTS framework, which defines the scope of the report using patient population, intervention, comparator, outcomes, timing, and setting. Medical librarians conduct reproducible searches to retrieve relevant literature, and findings from eligible studies are synthesized and appraised based on GRADE methods.<br /><br />Overall, rapid evidence assessments offer a practical solution for providing timely, data-driven guidance on genetic and genomic tests, supporting evidence-based decision-making in a rapidly evolving field.

Asset Subtitle

Presenting Author - Matthew Manso-Share, MS; Co-Author - Savvas C. Pavlides, PhD; Co-Author - Andrew Furman, MD, MMM, FACEP;

Meta Tag

Genetic Testing

Policy Issues

Risk Assessment

Co-Author Savvas C. Pavlides, PhD

Co-Author Andrew Furman, MD, MMM, FACEP

Presenting Author Matthew Manso-Share, MS

Keywords

Health technology assessments

evidence-based decision-making

genetic tests

genomic tests

rapid evidence assessments

Evidence Bar

GRADE strength-of-evidence rating system

best available evidence approach

PICOTS framework

timely guidance