Literature DB >> 25006153

Genomic sequencing: assessing the health care system, policy, and big-data implications.

Kathryn A Phillips1, Julia R Trosman2, Robin K Kelley3, Mark J Pletcher4, Michael P Douglas5, Christine B Weldon6.   

Abstract

New genomic sequencing technologies enable the high-speed analysis of multiple genes simultaneously, including all of those in a person's genome. Sequencing is a prominent example of a "big data" technology because of the massive amount of information it produces and its complexity, diversity, and timeliness. Our objective in this article is to provide a policy primer on sequencing and illustrate how it can affect health care system and policy issues. Toward this end, we developed an easily applied classification of sequencing based on inputs, methods, and outputs. We used it to examine the implications of sequencing for three health care system and policy issues: making care more patient-centered, developing coverage and reimbursement policies, and assessing economic value. We conclude that sequencing has great promise but that policy challenges include how to optimize patient engagement as well as privacy, develop coverage policies that distinguish research from clinical uses and account for bioinformatics costs, and determine the economic value of sequencing through complex economic models that take into account multiple findings and downstream costs. Project HOPE—The People-to-People Health Foundation, Inc.

Entities:  

Keywords:  Cost of Health Care; Health Economics; Information Technology; Insurance Coverage < Insurance; Medical technology

Mesh:

Year:  2014        PMID: 25006153      PMCID: PMC4113721          DOI: 10.1377/hlthaff.2014.0020

Source DB:  PubMed          Journal:  Health Aff (Millwood)        ISSN: 0278-2715            Impact factor:   6.301


  33 in total

1.  Life Technologies promises $1,000 genome.

Authors:  Laura DeFrancesco
Journal:  Nat Biotechnol       Date:  2012-02-08       Impact factor: 54.908

2.  Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge.

Authors:  James P Evans; Jonathan S Berg
Journal:  JAMA       Date:  2011-12-07       Impact factor: 56.272

Review 3.  Next-generation sequencing platforms.

Authors:  Elaine R Mardis
Journal:  Annu Rev Anal Chem (Palo Alto Calif)       Date:  2013       Impact factor: 10.745

4.  Clinical application of whole-genome sequencing: proceed with care.

Authors:  William Gregory Feero
Journal:  JAMA       Date:  2014-03-12       Impact factor: 56.272

5.  Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.

Authors:  John S Welch; Peter Westervelt; Li Ding; David E Larson; Jeffery M Klco; Shashikant Kulkarni; John Wallis; Ken Chen; Jacqueline E Payton; Robert S Fulton; Joelle Veizer; Heather Schmidt; Tammi L Vickery; Sharon Heath; Mark A Watson; Michael H Tomasson; Daniel C Link; Timothy A Graubert; John F DiPersio; Elaine R Mardis; Timothy J Ley; Richard K Wilson
Journal:  JAMA       Date:  2011-04-20       Impact factor: 56.272

6.  NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.

Authors:  Janice L Berliner; Angela Musial Fay; Shelly A Cummings; Brittany Burnett; Todd Tillmanns
Journal:  J Genet Couns       Date:  2012-11-28       Impact factor: 2.537

7.  Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Authors:  Robert C Green; Jonathan S Berg; Gerard T Berry; Leslie G Biesecker; David P Dimmock; James P Evans; Wayne W Grody; Madhuri R Hegde; Sarah Kalia; Bruce R Korf; Ian Krantz; Amy L McGuire; David T Miller; Michael F Murray; Robert L Nussbaum; Sharon E Plon; Heidi L Rehm; Howard J Jacob
Journal:  Genet Med       Date:  2012-03-15       Impact factor: 8.822

8.  Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard.

Authors:  Anne Townsend; Shelin Adam; Patricia H Birch; Jan M Friedman
Journal:  Genet Med       Date:  2013-09       Impact factor: 8.822

9.  Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.

Authors:  Timothy Caulfield; Jim Evans; Amy McGuire; Christopher McCabe; Tania Bubela; Robert Cook-Deegan; Jennifer Fishman; Stuart Hogarth; Fiona A Miller; Vardit Ravitsky; Barbara Biesecker; Pascal Borry; Mildred K Cho; June C Carroll; Holly Etchegary; Yann Joly; Kazuto Kato; Sandra Soo-Jin Lee; Karen Rothenberg; Pamela Sankar; Michael J Szego; Pilar Ossorio; Daryl Pullman; Francois Rousseau; Wendy J Ungar; Brenda Wilson
Journal:  PLoS Biol       Date:  2013-11-05       Impact factor: 8.029

10.  The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Authors:  Jason L Vassy; Denise M Lautenbach; Heather M McLaughlin; Sek Won Kong; Kurt D Christensen; Joel Krier; Isaac S Kohane; Lindsay Z Feuerman; Jennifer Blumenthal-Barby; J Scott Roberts; Lisa Soleymani Lehmann; Carolyn Y Ho; Peter A Ubel; Calum A MacRae; Christine E Seidman; Michael F Murray; Amy L McGuire; Heidi L Rehm; Robert C Green
Journal:  Trials       Date:  2014-03-20       Impact factor: 2.279

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  22 in total

Review 1.  Precision Medicine: From Science To Value.

Authors:  Geoffrey S Ginsburg; Kathryn A Phillips
Journal:  Health Aff (Millwood)       Date:  2018-05       Impact factor: 6.301

2.  Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Authors:  Kathryn A Phillips; Patricia A Deverka; Gillian W Hooker; Michael P Douglas
Journal:  Health Aff (Millwood)       Date:  2018-05       Impact factor: 6.301

3.  Decision Making on Medical Innovations in a Changing Health Care Environment: Insights from Accountable Care Organizations and Payers on Personalized Medicine and Other Technologies.

Authors:  Julia R Trosman; Christine B Weldon; Michael P Douglas; Patricia A Deverka; John B Watkins; Kathryn A Phillips
Journal:  Value Health       Date:  2017-01       Impact factor: 5.725

4.  "What Goes Around Comes Around": Lessons Learned from Economic Evaluations of Personalized Medicine Applied to Digital Medicine.

Authors:  Kathryn A Phillips; Michael P Douglas; Julia R Trosman; Deborah A Marshall
Journal:  Value Health       Date:  2017-01       Impact factor: 5.725

5.  Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.

Authors:  Zoë P Mackay; Dmitry Dukhovny; Kathryn A Phillips; Alan H Beggs; Robert C Green; Richard B Parad; Kurt D Christensen
Journal:  Value Health       Date:  2020-03-20       Impact factor: 5.725

6.  Insights From a Temporal Assessment of Increases in US Private Payer Coverage of Tumor Sequencing From 2015 to 2019.

Authors:  Julia R Trosman; Michael P Douglas; Su-Ying Liang; Christine B Weldon; Allison W Kurian; Robin K Kelley; Kathryn A Phillips
Journal:  Value Health       Date:  2020-03-19       Impact factor: 5.725

7.  Developing context-specific next-generation sequencing policy.

Authors:  Margaret Ann Curnutte; Karen L Frumovitz; Juli M Bollinger; Robert M Cook-Deegan; Amy L McGuire; Mary A Majumder
Journal:  Nat Biotechnol       Date:  2016-05-06       Impact factor: 54.908

Review 8.  Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines.

Authors:  William S Bush; Jessica N Cooke Bailey; Mark F Beno; Dana C Crawford
Journal:  Public Health Genomics       Date:  2019-08-27       Impact factor: 2.000

9.  EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS.

Authors:  James D Chambers; Cayla J Saret; Jordan E Anderson; Patricia A Deverka; Michael P Douglas; Kathryn A Phillips
Journal:  Int J Technol Assess Health Care       Date:  2017-10-25       Impact factor: 2.188

10.  A time-and-motion approach to micro-costing of high-throughput genomic assays.

Authors:  S Costa; D A Regier; B Meissner; I Cromwell; S Ben-Neriah; E Chavez; S Hung; C Steidl; D W Scott; M A Marra; S J Peacock; J M Connors
Journal:  Curr Oncol       Date:  2016-10-25       Impact factor: 3.677

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