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dc.contributor.authorKotze, Maritha Jen_US
dc.contributor.authorLuckhoff, Hilmar Ken_US
dc.contributor.authorFisher, Leslie Ren_US
dc.contributor.authorVan der Merwe, Nicoleen_US
dc.contributor.authorPretorius, Jacobusen_US
dc.contributor.authorVan Velden, David Pen_US
dc.contributor.authorMyburgh, Ettienne Jen_US
dc.contributor.authorPienaar, Fredrieka Men_US
dc.contributor.authorVan Rensburg, Susan Jen_US
dc.contributor.authorYako, Yandiswaen_US
dc.contributor.authorSeptember, Alison Ven_US
dc.contributor.authorMoremi, Kelebogile Een_US
dc.contributor.authorCronje, Frans Jen_US
dc.contributor.authorTiffin, Nickien_US
dc.contributor.authorBouwens, Christianne S. Hen_US
dc.contributor.authorBuizendenhout, Juanitaen_US
dc.contributor.authorApffelstaedt, Justus Pen_US
dc.contributor.authorStephen, Hough Fen_US
dc.contributor.authorErasmus, Rajiv Ten_US
dc.contributor.authorSchneider, Johann Wen_US
dc.description.abstractGenomic medicine is based on the knowledge that virtually every medical condition, disease susceptibility or response to treatment is caused, regulated or influenced by genes. Genetic testing may therefore add value across the disease spectrum, ranging from single-gene disorders with a Mendelian inheritance pattern to complex multi-factorial diseases. The critical factors for genomic risk prediction are to determine: (1) where the genomic footprint of a particular susceptibility or dysfunction resides within this continuum, and (2) to what extent the genetic determinants are modified by environmental exposures. Regarding the small subset of highly penetrant monogenic disorders, a positive family history and early disease onset are mostly sufficient to determine the appropriateness of genetic testing in the index case and to inform pre-symptomatic diagnosis in at-risk family members. In more prevalent polygenic noncommunicable diseases (NCDs), the use of appropriate eligibility criteria is required to ensure a balance between benefit and risk. An additional screening step may therefore be necessary to identify individuals most likely to benefit from genetic testing. This need provided the stimulus for the development of a pathology-supported genetic testing (PSGT) service as a new model for the translational implementation of genomic medicine in clinical practice. PSGT is linked to the establishment of a research database proven to be an invaluable resource for the validation of novel and previously described gene-disease associations replicated in the South African population for a broad range of NCDs associated with increased cardio-metabolic risk. The clinical importance of inquiry concerning family history in determining eligibility for personalized genotyping was supported beyond its current limited role in diagnosing or screening for monogenic subtypes of NCDs. With the recent introduction of advanced microarray-based breast cancer subtyping, genetic testing has extended beyond the genome of the host to also include tumor gene expression profiling for chemotherapy selection. The decreasing cost of next generation sequencing over recent years, together with improvement of both laboratory and computational protocols, enables the mapping of rare genetic disorders and discovery of shared genetic risk factors as novel therapeutic targets across diagnostic boundaries. This article reviews the challenges, successes, increasing inter-disciplinary integration and evolving strategies for extending PSGT towards exome and whole genome sequencing (WGS) within a dynamic framework. Specific points of overlap are highlighteden_US
dc.publisherCritical reviews in clinical laboratory sciencesen_US
dc.subjectBreast canceren_US
dc.subjectMajor allele reference sequenceen_US
dc.subjectMetabolic syndromeen_US
dc.subjectMultiple sclerosisen_US
dc.titleGenomic medicine and risk prediction across the disease spectrumen_US
Appears in Collections:Edu - Journal Articles (DHET subsidised)
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