"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling

BCM faculty members spearheaded the development of a first-generation Personal Genome Profile (Baylor PGP) assay to assist physicians in diagnosing and managing patients in this new era of medicine. The principles that guided the design and implementation of the Baylor PGP were high quality, robustness, low expense, flexibility, practical clinical utility, and the ability to facilitate broad areas of clinical research. The most distinctive feature of the approach taken is an emphasis on extensive screening for rare disease-causing mutations rather than common risk-increasing polymorphisms. Because these variants have large direct effects, the ability to screen for them inexpensively could have a major immediate clinical impact in disease diagnosis, carrier detection, presymptomatic detection of late onset disease, and even prenatal diagnosis. In addition to creating a counseling tool for individual "consumers," this system will fit into the established medical record and be used by physicians involved in direct patient care. This article describes an overall framework for clinical diagnostic array genotyping and the available technologies, as well as highlights the opportunities and challenges for implementation.