Literature DB >> 31728779

Determining accurate costs for genomic sequencing technologies-a necessary prerequisite.

Jathishinie Jegathisawaran1, Kate Tsiplova1, Robin Hayeems1,2, Wendy J Ungar3,4.   

Abstract

Genome sequencing (GS) is increasingly being translated into clinical practice and is a technology characterized by a complex multi-step workflow. Funding decisions for GS would be aided by formal economic evaluation of GS platforms, but these analyses require detailed costing. This article addresses the importance of and challenges associated with costing GS using a GS microcosting project in autism spectrum disorder as an illustrative example.

Entities:  

Keywords:  Autism spectrum disorder; Chromosomal microarray; Economic evaluation; Genome sequencing; Health technology assessment; Microcosting

Year:  2019        PMID： 31728779      PMCID： PMC7062971          DOI： 10.1007/s12687-019-00442-7

Source DB:  PubMed          Journal:  J Community Genet        ISSN： 1868-310X


  5 in total

1.  Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.

Authors:  Robin Z Hayeems; Christian R Marshall; Meredith K Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J Stavropoulos; Viji Venkataramanan; Kate Tsiplova; Sarah Sawyer; E Magda Price; Lynette Lau; Reem Khan; Whiwon Lee; Lijia Huang; Olga Jarinova; Wendy J Ungar; Roberto Mendoza-Londono; Martin J Somerville; Kym M Boycott
Journal:  CMAJ Open       Date:  2022-05-24

Review 2.  Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges.

Authors:  Alexandra Cernat; Robin Z Hayeems; Lisa A Prosser; Wendy J Ungar
Journal:  Children (Basel)       Date:  2021-04-27

Review 3.  Cancer Neoantigens: Challenges and Future Directions for Prediction, Prioritization, and Validation.

Authors:  Elizabeth S Borden; Kenneth H Buetow; Melissa A Wilson; Karen Taraszka Hastings
Journal:  Front Oncol       Date:  2022-03-03       Impact factor: 6.244

4.  The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.

Authors:  Catherine Lejeune; Charley Robert-Viard; Nicolas Meunier-Beillard; Myriam Alice Borel; Léna Gourvès; Stéphanie Staraci; Anne-Laure Soilly; Francis Guillemin; Valerie Seror; Hamza Achit; Marion Bouctot; Marie-Laure Asensio; Anne-Sophie Briffaut; Christelle Delmas; Ange-Line Bruel; Alexia Benoit; Alban Simon; Bénédicte Gerard; Hamza Hadj Abdallah; Stanislas Lyonnet; Laurence Faivre; Christel Thauvin-Robinet; Sylvie Odent; Delphine Heron; Damien Sanlaville; Thierry Frebourg; Jean Muller; Yannis Duffourd; Anne Boland; Jean-François Deleuze; Hélène Espérou; Christine Binquet; Hélène Dollfus
Journal:  Front Genet       Date:  2022-04-04       Impact factor: 4.772

5.  Streamlining Quantitative Analysis of Long RNA Sequencing Reads.

Authors:  Sebastian Oeck; Alicia I Tüns; Sebastian Hurst; Alexander Schramm
Journal:  Int J Mol Sci       Date:  2020-10-01       Impact factor: 5.923
  5 in total

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