This year our annual conference will focus on novel applications as well as long-standing challenges of genetic testing, a measurement modality central to precision medicine.* While the clinical applications of genetic testing have broadened from a single gene focus to increasingly available whole genome sequencing and genome-wide risk scores, there remains much confusion around the appropriate evidentiary standards for their use in clinical practice and in R&D. This conference will provide a platform to discuss foundational questions such as the nature of “normal” genetic variation in the context of both established forms of testing and cutting-edge technology. To achieve these goals, we will convene expert scientists from academia and industry who are developing new applications and technologies of genetic testing as well as laboratory directors and individuals responsible for guidelines on variant interpretation. We will frame these discussions around how best to improve precision medicine for all populations. As we have done in years past, we will center on elevating the patient voice and building patient engagement.
*What do we mean by “precision medicine”? From the perspective of one of the members of the National Academy of Sciences committee that wrote the report, we mean taking an explicit multidimensional view of patients: not just one data modality such as genomics or environmental exposure. We argue that this perspective allows for more precise matching of humans to disease states (diagnosis), future disease states (prognosis) and appropriate therapies.
