“Personalizing” academic medicine: opportunities and challenges in implementing genomic profiling

Abstract

BCM faculty members spearheaded 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 are guiding the design and implementation of the Baylor PGP are high quality, robustness, low expense, flexibility, practical clinical utility and the ability to facilitate broad areas of clinical research. The single 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 very large direct effects, the ability to inexpensively screen for them could have major immediate clinical impact in disease diagnosis, carrier detection, pre-symptomatic 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 paper describes an overall framework for clinical diagnostic array genotyping, and the available technologies as well as highlights the opportunities and challenges for implementation.

Copy Number and SNP Arrays in Clinical Diagnostics

“…These PGM tests are offered by private and academic laboratories and generally require pretest counseling by a physician or counselor with documentation of such on the request and consent forms. The approach taken by most institutions is to emphasize extensive screening for rare disease-causing mutations rather than testing common risk-modifying variants of small effect size (108). The boundary between risk-modifying SNPs and actionable disease genotypes is not sharp.…”

Genetics Patients‘ Perspectives on Clinical Genomic Testing

“…These early demonstrations of the clinical promise of genomic analyses suggest that NGS tools will be adopted first by physicians who are consulted to assist in providing a diagnosis for patients with complex clinical presentations, particularly in cases where genetic contributions are suspected but have proven difficult to identify [6]. Examples of such scenarios might include patients presenting with neurological problems of unknown origins or with complex cancer histories that are suggestive of multiple genetic contributions [7].…”

Advances in the Molecular Detection of ABC Transporters Involved in Multidrug Resistance in Cancer

“…The establishment of a standard assay allowing the precise discrimination of highly homologous genes using a small amount of sample would help to produce a clearer, more unified picture of MDR [48]. Moreover, it would undoubtedly lead to progress not only in understanding the mechanisms governing MDR but also in the translation of this knowledge to clinical practice, especially in personalized medicine [49]. …”