Today, enthusiasm for genomics far outstrips the relatively modest, albeit increasing, number of clinical scenarios for which it provides established health benefits. Nonetheless, laboratories have incentives to introduce and offer genetic tests at an astounding rate, reflecting not only the increased ability to perform them accurately in many clinical laboratories but the precipitous drop in the cost of testing. However, the actual cost of the tests themselves should be the least of our concerns; the clinical usefulness should be foremost. This set of circumstances has many similarities to that of newborn screening, for which the costs of the tests themselves have plummeted and the marginal cost of additional tests is so low as to be insignificant, supporting the argument that we should do every possible test. However, the overriding question for both genetic testing and new tests that could be added to newborn screening is the same: What are the health benefits achieved and harms incurred as a result of the information gained from these tests?
The Secretary’s Advisory Committee on Genetics, Health, and Society and the Evaluation of Genomic Tests in Prevention and Practice Working Group wrestled with the question of the clinical utility of genomic testing, including its definition and its relationship to oversight of laboratory testing. The Secretary’s Advisory Committee on Genetics, Health, and Society clearly came down on the side of stricter oversight of genomic testing, emphasizing that, in general, clinical use of tests should be deferred until clear evidence of clinical utility is demonstrated, as it has been in guiding some cancer chemotherapies, for example.
Read the full, original paper here: Utility before business