Healthcare is rapidly moving towards a "personalized medicine" approach, tailoring decisions and medical practices to individual patients, harnessing the power of genomic discoveries to determine the type of treatment, the dosage, and even prospectively predicting the risk of developing disease. As each patient is unique, customizing treatment based on that individual's genetic make-up will serve to improve the effectiveness of healthcare and ultimately cut healthcare costs through improved efficiencies. While easy for monogenic disorders, discovering the genetic basis for complex disorders is challenging. Genome-wide association studies employing large numbers of samples from well-characterized patients have unveiled more than 1000 loci associated with complex diseases and traits such as diabetes, cardiovascular disease and stroke to name a few. The University of Maryland's Personalized and Genomic Medicine Program was initiated in April 2011. The goal of this Program is to advance basic and clinical research discovery in personalized and genomic medicine and to implement evidence-based personalized medicine into patient care at the University of Maryland Medical System (UMMS). Toward this goal we have begun two major biobanking projects. The UMMS Biobank will collect samples from at least 100,000 patients linked to detailed phenotype data and the EMR over the next several years. The Amish Wellness Project aims to ascertain essentially all adult Amish living in Lancaster, PA, approximately 12,000 individuals. In addition, the University of Maryland School of Medicine (UMSOM) houses a variety of research sample collections that focus on specific diseases. Centralizing these Biobanks will create synergies between them and provide the framework to establish standardized practices to govern future banking efforts. To support existing collections and provide adequate space for banking new collections, we propose to support the UMBioBank with a fully automated system by Hamilton Storage Technologies that integrates storage with sample processing and automating procedures from genotyping of single variants to whole genome sequencing. The storage system will allow banking of 500,000 DNA samples, 75,000 buffy coats, and 50,000 RNA samples using a combination of -80?C and -20?C storage units, all linked to an automated liquid handling platform. The system will be housed in newly renovated space in a CLIA- and CAP-accredited laboratory, in space proximal to other clinical research laboratories, to facilitate use of banked samples. A management plan is presented that addresses policies for adding samples to the bank, and access to banked samples. The UMSOM and UMMS are providing substantial resources to support the UMBioBank. The goal of this grant is to acquire the essential equipment to establish the UMBioBank, specifically, to support sample collection, processing, DNA extraction, storage and sample retrieval to facilitate use and sharing of samples for discoveries in personalized and genomic medicine and their translation into improved patient care.
|Shuldiner, Alan R; Palmer, Kathleen; Pakyz, Ruth E et al. (2014) Implementation of pharmacogenetics: the University of Maryland Personalized Anti-platelet Pharmacogenetics Program. Am J Med Genet C Semin Med Genet 166C:76-84|