作者: AlexisB Carter , RamachandraR Gullapalli , JillM Hagenkord , HyunseokP Kang , FedericoA Monzon
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摘要: Jeffrey A. Kant, MD, PhD was a pioneer and giant in the field of molecular pathology. In world pathology informatics, he relatively unknown except by those us who either had pleasure working with him or honor training under him. Upon closer examination his life fellows whom trained, trend emerges. Among all individuals have careers that combine both informatics genetic (so-called MGP-Informatics “hybrids”), very large portion trained Dr. Kant at University Pittsburgh Medical Center. For readers familiar recent advances pathology, it might be assumed always obvious computational bioinformatics techniques would necessary to analyze interpret increasingly complex data produced – now exemplified massively parallel sequencing data. However, this necessity for not most until recently. Yet, due Kant's influence, almost half last decade were, later became, MGP-informatics hybrids well before fellowships scientific meetings began focus on genomic technologies. Those during infancy mid-1980s remember enthusiasm early personal computers their use tasks such as linkage analysis families prenatal diagnosis. 2000s arrived laboratory already attempting overcome limited handling anatomic clinical information systems an ancillary custom database. Readers reputation Center being forefront assume co-localization these two subspecialties responsible enrichment hybrids. While has some degree truth, is only minor part story. Many practice can recount stories which mentor, attending colleague expressed concern dismay over desire non-traditional fields medicine (e.g., “You are wasting your brain cells.”, “Well, when you get done nonsense, come talk me about practicing surgical pathology.”, “Why don’t do real fellowship? You’re never going job.”). could easily taken approach toward informatics. Instead, despite fact area expertise, unwaveringly supported strongly encouraged fellows’ varied interests This nature mentor. He wanted people passionate work, but also knew critical success forward thinking, pathologists uncomfortably novel, likely led join others founding Association Molecular Pathology, serve its first president receive lifetime achievement award from organization years later. While encompasses many areas outside believed occur without robust management tools achieve highest quality patient care expected himself others. amazing ability detect sequence variants base-calling software missed scale scanning through gigabytes generated high-throughput was, foremost, pragmatist. understood potential disruptive genomics technologies next-generation catalyze paradigm shift Western medicine, moving current reactive model predictive therefore proactive future. saw need accurate, ethical financially viable practice. awareness biochemical, bioinformatics, analytical, interpretive, regulatory hurdles between today's nascent promises medicine. leading authority Current Procedural Terminology (CPT) billing codes Every year, gave standing-room-only lectures issues reimbursement diagnostics annual meeting Pathology. Finally, loved teach. felt advancement primarily driven young innovative dynamic ideas. welcoming new ideas improve assay, methodology technology, irrespective source where originated. unique make even rawest recruit feel special important came humble nature. example instilled trainees importance compliance, ethics, fiduciary responsibility teaching diagnostics. His hybrids, several charge carry elements help ensure testing safely, ethically accurately. Dr. genuine straightforward. colleagues fatherly smile, warm heart great sense humor. The loss rapidly progressive illness September 2012 left void general academic private hearts legacy dual challenge fulfill dream safe effective patients built strong foundation high-quality