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Issue link: https://clinicalomics.epubxp.com/i/898657
www.clinicalomics.com November/December 2017 Clinical OMICs 33 Vantari Genetics, Translational Software to Support Banner Alzheimer's Institute's GeneMatch Registry Vantari Genetics and Translational Software (TSI) have announced a collaboration to support the Ban- ner Alzheimer 's Institute's (BAI) GeneMatch registry by provid- ing genotype testing, actionable genomic information and custom reporting. GeneMatch is a national program led by BAI designed to help recruit participants for Alz- heimer 's prevention studies based on genetic testing information. Clinical diagnostic lab Van- tari and TSI, a genomic decision support company, said they will support GeneMatch by offer- ing testing for apolipoprotein E (APOE)—a gene associated with late-onset Alzheimer 's—and interpreting the cheek swabs of vol- unteers interested in participating in community-based Alzheimer 's research efforts. "Vantari Genetics was contracted to provide genotyping for the two major APOE single nucleotide polymor- phisms (SNP's) most closely associ- ated with AD as well as gender typing to help reduce the potential for sample mixup," Shaun R. Opie, Ph.D., Van- tari's CSO, told Clinical OMICs. "Van- tari Genetics is providing genotyping services to help stratify participants into risk categories for their predispo- sition to developing early onset Alz- heimer 's Disease." Raw genomic and molecular data from the tests will be analyzed to provide insights into the genetic vari- ants of volunteers, for use in identi- fying study participants at varying degrees of genetic risk for developing Alzheimer 's. "The database of volunteers will be used for future clinical research stud- ies in both drug development and imaging," Opie added. Vantari and TSI will collaborate to provide BAI with in-depth analysis of the APOE data in multiple, custom- ized formats to help scientists identify early brain changes in participants, and will compare the effectiveness of treatments for people with varying APOE profiles. Don Rule, CEO of TSI, said his company's platform is scalable and designed to cost-effectively provide single gene reporting for clinical trials, as well as incorporate independent genomic research data. "We use our existing processing platform and knowledgebase to pro- vide insight about the genotypes that are reported by the lab," Rule said. "Vantari Translational Software's knowledge base incorporates the latest guidance from leading-edge science, knowledge from scientific groups such as the Clinical Phar- macogenetics Implementation Consortium and the Dutch Phar- macogenetics Working Group, and government data from the [FDA] and the European Medi- cines Agency as well as other pri- mary sources to ensure accurate and timely genetic result haplo- typing and data validation." TSI offers clinical decision sup- port designed to support preci- sion medicine by Sanford Health and other healthcare providers. The company says its pharma- cogenomics (PGx) knowledge-base and application programming inter- face (API) has been used to provide over 1 million PGx recommendations. The API is based on Fast Healthcare Interoperability Resource (FHIR), developed by the nonprofit stan- dards-developing organization Health Level Seven International (HL7). The HL7 format is how raw batch data will be provided, to allow for SNP analysis and genotyping, Opie said. "For individual participants, the gen- otype data is transferred to a standard clinical laboratory report format (PDF) to allow for genetic counsellors and other health care providers accessibility through an electronic laboratory por- tal," he added, while roll-up summary data will be in .csv format to allow for study level data analysis to quickly stratify and identify potential research volunteers.—Alex Philippidis fotostorm / Getty Images