Meta tags:
description=I recently got to attend the American Medical Informatics Association’s (AMIA) Joint Summits on Translational Science, held in nearby San Francisco. The event had tracks for both translational bioinformatics as well as clinical research informatics and served as a unique opportunity to hear about the informatics challenges that are being faced in the clinical realm… Read more On the Scene at AMIA: Clinical Promise and Informatics Opportunities for Whole-Genome Sequencing;

Headings (most frequently used words):

dnanexus, on, at, informatics, for, cloud, platform, the, scene, amia, clinical, promise, and, opportunities, whole, genome, sequencing, share, related, articles, most, recent, ashg, elevating, translational, expands, with, microsoft, azure, caredx, collaborate, based, genomics, cfdna, testing, in, organ, transplantation,

Text of the page (most frequently used words):
the (42), for (33), and (28), partners (17), dnanexus (15), with (15), platform (14), more (14), #sequencing (14), show (11), about (10), data (10), #clinical (10), that (10), latest (10), submenu (10), resources (9), services (9), informatics (9), solutions (8), genome (8), are (7), learn (7), medical (7), whole (6), research (6), analysis (6), patients (6), company (6), biobank (6), center (5), our (5), translational (5), jacob (5), diagnostics (4), cloud (4), genomics (4), clinicians (4), technology (4), cost (4), read (4), news (4), press (4), coverage (4), webinars (4), case (4), studies (4), white (4), papers (4), videos (4), managed (4), trusted (4), population (4), security (3), legal (3), status (3), documentation (3), developer (3), careers (3), professional (3), science (3), your (3), most (3), collaborate (3), being (3), clinic (3), from (3), eager (3), this (3), approval (3), challenges (3), opportunities (3), patient (3), team (3), cancer (3), program (3), one (3), genetic (3), tools (3), amia (3), bioinformatics (3), all (2), rna (2), darren (2), ames (2), head (2), just (2), you (2), right (2), conference (2), how (2), next (2), gen (2), talks (2), number (2), insurance (2), while (2), already (2), talk (2), tonalleto (2), harvard (2), school (2), his (2), pipelines (2), noted (2), breast (2), which (2), practice (2), told (2), said (2), pilot (2), now (2), process (2), will (2), not (2), use (2), diseases (2), counseling (2), college (2), must (2), want (2), receive (2), know (2), scene (2), promise (2), inside (2), log (2), sign (2), contact (2), events (2), leadership (2), blogs (2), partner (2), briefs (2), upadates (2), heading (2), instrument (2), environments (2), regulatory (2), spaces (2), ngs (2), global (2), health (2), authorities (2), biobanks (2), programs (2), commercial (2), businesses (2), academic (2), pharmaceutical (2), biotech (2), industries (2), announcements (2), releases (2), comply (2), regulations (2), standards (2), frameworks (2), compliance (2), powering (2), collaborative (2), exploration (2), discovery (2), comprehensive (2), suite (2), analyze (2), organized (2), place (2), manage (2), cookie, settings, 2026, inc, rights, reserved, certifications, terms, privacy, site, map, updates, resource, todd, oakland, svp, biopharma, building, measurable, evidence, engine, cell, gene, therapies, bioinformatician, fever, dream, nirvana, really, stable, manifest, meeting, where, growing, aligner, setting, yourself, success, choosing, omics, pipeline, recent, caredx, based, cfdna, testing, organ, transplantation, expands, microsoft, azure, ashg, elevating, related, articles, share, move, beyond, experience, offered, valuable, insight, into, adopted, was, clear, saw, embrace, new, despite, hurdles, including, reimbursement, processes, learning, curve, standing, way, there, consider, walked, away, feeling, optimistic, uptake, healthcare, another, peter, professor, biomedical, highlighted, associated, genomic, variation, landscape, group, working, dna, seq, micrornas, methylation, those, coupled, preclinical, variant, annotation, yield, application, areas, such, risk, prediction, tumor, classification, pathway, alternative, treatment, approaches, also, comparison, did, project, standard, 19k, 25k, these, costs, finally, par, audience, adopt, acceptance, rate, out, eliminate, altogether, get, their, sequenced, surprise, four, cases, submitted, have, gone, through, added, continues, drop, hard, approach, especially, rare, pharmacogenomics, decisions, lesson, learned, ready, common, exception, scaling, operations, delivering, adequate, selecting, appropriate, analytical, determining, who, can, order, tests, howard, director, human, molecular, genetics, wisconsin, gave, very, charismatic, attendees, compelling, reason, sequence, family, history, described, ongoing, noting, considered, two, physicians, nominate, him, her, would, actionable, end, diagnostic, odyssey, accepted, determine, outset, much, information, they, when, returning, results, some, choose, minimum, others, variations, don, yet, understand, disease, implications, enrolled, six, hours, part, here, few, highlights, found, particularly, interesting, recently, got, attend, american, association, joint, summits, held, nearby, san, francisco, event, had, tracks, both, well, served, unique, opportunity, hear, faced, realm, blog, request, demo, skip, content,

Text of the page (random words):
on the scene at amia clinical promise and informatics opportunities for whole genome sequencing inside dnanexus skip to content platform show submenu for platform platform the dnanexus platform manage your data organized and managed in one place analyze a comprehensive suite of bioinformatics tools collaborate powering collaborative exploration and discovery security compliance comply with regulations standards and frameworks latest press releases our latest announcements and coverage read more solutions show submenu for solutions industries pharmaceutical biotech academic medical center clinical diagnostics commercial data businesses biobanks population programs global health authorities solutions ngs data analysis translational informatics population genomics trusted regulatory spaces trusted research environments services professional services managed services partners show submenu for partners partners cloud partners technology partners services partners data biobank partners instrument partners uk biobank heading learn more about the uk biobank research analysis platform resources show submenu for resources resources learn more with webinars case studies white papers and videos developer resources documentation status upadates learn more with webinars case studies white papers partner briefs and videos blogs company show submenu for company company about dnanexus leadership team careers legal latest latest news our latest news and press coverage read more more dnanexus events contact us platform show submenu for platform platform the dnanexus platform manage your data organized and managed in one place analyze a comprehensive suite of bioinformatics tools collaborate powering collaborative exploration and discovery security compliance comply with regulations standards and frameworks latest press releases our latest announcements and coverage read more solutions show submenu for solutions industries pharmaceutical biotech academic medical center clinical diagnostics commercial data businesses biobanks population programs global health authorities solutions ngs data analysis translational informatics population genomics trusted regulatory spaces trusted research environments services professional services managed services partners show submenu for partners partners cloud partners technology partners services partners data biobank partners instrument partners uk biobank heading learn more about the uk biobank research analysis platform resources show submenu for resources resources learn more with webinars case studies white papers and videos developer resources documentation status upadates learn more with webinars case studies white papers partner briefs and videos blogs company show submenu for company company about dnanexus leadership team careers legal latest latest news our latest news and press coverage read more more dnanexus events contact us sign up log in sign up log in request a demo blog inside dnanexus on the scene at amia clinical promise and informatics opportunities for whole genome sequencing i recently got to attend the american medical informatics association s amia joint summits on translational science held in nearby san francisco the event had tracks for both translational bioinformatics as well as clinical research informatics and served as a unique opportunity to hear about the informatics challenges that are being faced in the clinical realm right now here are a few highlights from the talks i found particularly interesting howard jacob director of the human and molecular genetics center at the medical college of wisconsin gave a very charismatic talk on genome sequencing in the clinic he told attendees the most compelling reason to use genome sequence with patients is that it s family history with data jacob described an ongoing pilot whole genome sequencing program at the college noting that for a patient to be considered for the program two physicians must nominate him or her and show that the sequencing would be actionable and end a diagnostic odyssey accepted patients must determine at the outset how much information they want to receive when returning results some choose to know just the minimum while others want to know about genetic variations for which we don t yet understand the disease implications enrolled patients receive six to 10 hours of genetic counseling as part of the process jacob said that with an 20 patient acceptance rate 16 out of 80 for the pilot program clinicians are now eager to eliminate the approval process altogether to get their patients sequenced to my surprise four of the 10 cases submitted for insurance approval have gone through jacob added that as the cost continues to drop it will be hard for clinicians not to use this approach for patients especially for rare diseases and for pharmacogenomics decisions he noted that one lesson learned already is that clinical sequencing is not ready for common diseases with the exception of cancer jacob said the challenges in scaling up sequencing operations in the clinic will be delivering adequate genetic counseling selecting the most appropriate analytical tools for clinical sequencing and determining who can order whole genome sequencing tests in another talk peter tonalleto a professor at the center for biomedical informatics at harvard medical school highlighted the medical opportunities associated with a patient s genomic variation landscape his research group is working on analysis pipelines for dna sequencing rna seq micrornas and methylation those pipelines coupled with preclinical and clinical variant annotation yield application in areas such as risk prediction tumor classification and pathway analysis for alternative treatment approaches he also noted a cost comparison his team did for a breast cancer project in which standard practice cost about 19k and next gen sequencing practice cost about 25k with these costs finally being on par tonalleto told the audience that more clinicians at harvard medical school are eager to adopt whole genome sequencing for breast cancer patients in all the conference offered valuable insight into how next gen sequencing is being adopted in the clinic it was clear from the talks i saw that clinicians are eager to embrace this new technology despite the number of hurdles including insurance reimbursement approval processes and technology learning curve standing in the way while there are a number of challenges to consider i walked away from this conference feeling optimistic about the uptake of whole genome sequencing in healthcare already experience dnanexus move beyond genomics learn more share related articles dnanexus at ashg elevating translational informatics dnanexus expands with microsoft azure cloud platform caredx dnanexus collaborate on cloud based genomics platform for cfdna testing in organ transplantation most recent clinical diagnostics setting yourself up for success choosing the right omics platform for your diagnostics pipeline meeting where you are at growing with you by darren ames head of solutions science the aligner the bioinformatician s fever dream data nirvana or just a really stable manifest by darren ames head of solutions science building a measurable evidence engine for cell gene and rna therapies by todd oakland svp gm biopharma rx dx dnanexus platform professional services our partners about dnanexus careers resource center developer resources documentation status updates site map legal privacy terms security certifications 2026 dnanexus inc all rights reserved cookie settings