Plain Language Summary

What is it about?

Genetic and genomic tests can help tailor a diagnosis and treatment to a person’s genetic information. Before healthcare systems offer these tests widely, they must determine whether the tests are safe, useful, and worth the cost. That evaluation is difficult because genetic science changes quickly, evidence develops more slowly, and testing methods are not standardized. This review brings the known challenges together in 1 framework and highlights practical ways to improve evaluation.

How was the research conducted?

The researchers systematically searched 3 scientific databases for studies about evaluating genetic and genomic tests. Of 839 records screened, 20 met the criteria. The team reviewed these articles, grouped the reported challenges and proposed solutions into common themes, and organized them using an established international framework. This approach was appropriate because the evidence included varied sources, such as reviews, research reports, case studies, and expert perspectives.

What were the results?

The central problem is a mismatch in speed: genetic science advances rapidly, but the evidence needed to judge new tests takes much longer to build. Inconsistent testing methods also make studies hard to compare. Most research focused on clinical benefit and cost, while safety and practical implementation received less attention. Evaluators also struggle to decide who should be tested, how uncertain results should be handled, and how benefits for families and society should be measured.

Why are the results important?

Weak evaluation can delay access to valuable tests—or allow tests to spread before their benefits are clear. The findings support faster, more flexible assessment methods that still use consistent standards. Better evaluation could give patients earlier access to reliable tests, stronger privacy protections, and fairer access across income levels and locations. It could also help healthcare decision makers use real-world evidence, involve patients, and make more timely and transparent choices.

What are the strengths and weaknesses of this study?

A major strength is that the review covers the full range of evaluation challenges rather than one narrow issue. However, the included publications differed widely in type and quality, and few came from low- and middle-income countries, limiting how broadly the findings apply. Future research should test faster evaluation methods in practice, improve measurement of benefits beyond health outcomes, include ethical and legal concerns more consistently, and compare approaches across countries. 

^{Note: This content was created with assistance from artificial intelligence (AI) and has been reviewed and edited by ISPOR staff. For more information or for inquiries on ISPOR’s AI policy, click here or contact us at info@ispor.org.}