Major components of 21st-century medicine lack suitable oversight mechanisms, said Muin Khoury of CDC. Huge quantities of data have become available and much more is on the way, yet in many areas there remains an evidence gap between interventions and outcomes. Stakeholders have different perspectives on this evidence gap. While some may feel that sufficient evidence exists to meet their needs, others may not. The confusion generated by the lack of oversight creates less than optimal awareness and knowledge among consumers, providers, and systems.
In the area of genomic diagnostic tests, the lack of coherent oversight creates what Khoury termed “premature translation.” Genomic tests move from the bench to the bedside quickly with no strings attached because they go through the LDT route. “Spit in a test tube and you get results.” However, there remains a chasm between the use of these tests and improved health, which Khoury described as the “lost in translation” gap. Products seep through the translation process, some good and some bad, while information about their effectiveness is often lacking.
Khoury pointed to the need to develop what he called a public health approach to genetics (Figure 6-1). He admitted that the term is something of an oxymoron, since genetics is about personalized medicine and public