"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling.

Translational Research : the Journal of Laboratory and Clinical Medicine
David J Tweardy, John W Belmont

Abstract

BCM faculty members spearheaded the development of a first-generation Personal Genome Profile (Baylor PGP) assay to assist physicians in diagnosing and managing patients in this new era of medicine. The principles that guided the design and implementation of the Baylor PGP were high quality, robustness, low expense, flexibility, practical clinical utility, and the ability to facilitate broad areas of clinical research. The most distinctive feature of the approach taken is an emphasis on extensive screening for rare disease-causing mutations rather than common risk-increasing polymorphisms. Because these variants have large direct effects, the ability to screen for them inexpensively could have a major immediate clinical impact in disease diagnosis, carrier detection, presymptomatic detection of late onset disease, and even prenatal diagnosis. In addition to creating a counseling tool for individual "consumers," this system will fit into the established medical record and be used by physicians involved in direct patient care. This article describes an overall framework for clinical diagnostic array genotyping and the available technologies, as well as highlights the opportunities and challenges for implementation.

References

Dec 1, 1985·The British Journal of Disorders of Communication·R G OliverR G Newcombe
Dec 31, 1997·Genetics·M Slatkin, B Rannala
Apr 16, 1998·American Journal of Human Genetics·B Rannala, M Slatkin
Feb 18, 2005·The New England Journal of Medicine·Michael J EblanEllen Sidransky
Jan 9, 2007·Inflammatory Bowel Diseases·Francesca BressoMauro D'Amato
Jun 21, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·Henry HouldenMary M Reilly
Sep 22, 2007·Annual Review of Pharmacology and Toxicology·A Telenti, U M Zanger
Sep 27, 2007·Clinical Genetics·M RantamäkiB Udd
Jan 4, 2008·Human Genetics·Mia M GaudetMontserrat Garcia-Closas
Mar 25, 2008·Advances in Genetics·Karen Maresso, Ulrich Broeckel
Apr 19, 2008·Nature·David A WheelerJonathan M Rothberg
May 29, 2008·European Journal of Clinical Pharmacology·Srikumar SahasranamanSandip Roy
Jun 19, 2008·Cancer Treatment Reviews·Dinemarie KweekelHans Gelderblom
Aug 5, 2008·American Journal of Human Genetics·Denis A Smirnov, Vivian G Cheung
Aug 30, 2008·Pharmacotherapy·Nita A Limdi, David L Veenstra
Nov 18, 2008·Advances in Genetics·Nick Orr, Stephen Chanock
May 7, 2009·Expert Opinion on Drug Metabolism & Toxicology·Iris Grossman

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Citations

Jun 24, 2014·Personalized Medicine·Michelle L McGowanRichard R Sharp
Aug 2, 2011·Annual Review of Genomics and Human Genetics·Christian P SchaafArthur L Beaudet
Jul 14, 2010·American Journal of Preventive Medicine·Muin J KhouryRodolfo Valdez
Jul 31, 2010·Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases·L Bissonnette, M G Bergeron
Aug 11, 2017·Clinical and Translational Science·Hugh J S DawkinsUNKNOWN International Rare Diseases Research Consortium (IRDiRC)
May 1, 2012·Personalized Medicine·James M Crawford, Mara G Aspinall
Jun 6, 2017·F1000Research·Venkatesh VaidyanathanLynnette R Ferguson

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