IDEAS home Printed from https://ideas.repec.org/a/spr/pharme/v38y2020i2d10.1007_s40273-019-00856-8.html
   My bibliography  Save this article

A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders

Author

Listed:
  • Patrick Fahr

    (University of Oxford)

  • James Buchanan

    (University of Oxford
    University of Oxford)

  • Sarah Wordsworth

    (University of Oxford
    University of Oxford)

Abstract

Genetic disorders are clinically diverse and genetically heterogeneous, and are traditionally diagnosed based on an iterative phenotype-guided genetic assessment. However, such diagnostic approaches are long (diagnostic odysseys are common), misdiagnoses occur frequently, and diagnostic rates are low. Massively parallel sequencing (MPS) technologies may improve diagnostic rates and reduce the time to diagnosis for patients with suspected genetic disorders; however, MPS technologies are expensive and the health economic evidence base to support their use is limited. Several studies have compared the costs of traditional and MPS diagnostic pathways for patients with suspected genetic disorders, however costing methods and diagnostic scenarios are heterogeneous across studies. We conducted a literature review to identify and summarise information on these costing methods and diagnostic scenarios. Relevant studies were identified in MEDLINE, EMBASE, EconLit, University of York Centre for Reviews and Dissemination and the Cochrane Library, from 2010 to 2018. Twenty-four articles were included in the review. We observed considerable heterogeneity across studies with respect to the selection of items of resource use used to derive total diagnostic pathway cost estimates. We also observed structural differences in the diagnostic scenarios used to compare the traditional and MPS diagnostic pathways. There is a need for guidelines on the costing of diagnostic pathways to encourage the use of consistent methods. More micro-costing studies that evaluate diagnostic service delivery are also required. Greater homogeneity in costing approaches would facilitate more reliable comparisons between studies and improve the transferability of cost estimates across countries.

Suggested Citation

  • Patrick Fahr & James Buchanan & Sarah Wordsworth, 2020. "A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders," PharmacoEconomics, Springer, vol. 38(2), pages 143-158, February.
    • Handle: RePEc:spr:pharme:v:38:y:2020:i:2:d:10.1007_s40273-019-00856-8
    DOI: 10.1007/s40273-019-00856-8
    as

    Download full text from publisher

    File URL: http://link.springer.com/10.1007/s40273-019-00856-8
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1007/s40273-019-00856-8?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    References listed on IDEAS

    as
    1. Zsolt Mogyorosy & Peter Smith, 2005. "The main methodological issues in costing health care services: A literature review," Working Papers 007cherp, Centre for Health Economics, University of York.
    2. Drummond, Michael F. & Sculpher, Mark J. & Claxton, Karl & Stoddart, Greg L. & Torrance, George W., 2015. "Methods for the Economic Evaluation of Health Care Programmes," OUP Catalogue, Oxford University Press, edition 4, number 9780199665884.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Carlos Rojas-Roque & Alfredo Palacios, 2023. "A Systematic Review of Health Economic Evaluations and Budget Impact Analyses to Inform Healthcare Decision-Making in Central America," Applied Health Economics and Health Policy, Springer, vol. 21(3), pages 419-440, May.
    2. Chrysanthos D. Christou & Eleni C. Athanasiadou & Andreas I. Tooulias & Argyrios Tzamalis & Georgios Tsoulfas, 2022. "The process of estimating the cost of surgery: Providing a practical framework for surgeons," International Journal of Health Planning and Management, Wiley Blackwell, vol. 37(4), pages 1926-1940, July.
    3. Zuzana Špacírová & David Epstein & Leticia García-Mochón & Joan Rovira & Antonio Olry de Labry Lima & Jaime Espín, 2020. "A general framework for classifying costing methods for economic evaluation of health care," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 21(4), pages 529-542, June.
    4. Claudia Fischer & Susanne Mayer & Nataša Perić & Judit Simon, 2022. "Harmonization issues in unit costing of service use for multi-country, multi-sectoral health economic evaluations: a scoping review," Health Economics Review, Springer, vol. 12(1), pages 1-13, December.
    5. Banke-Thomas, Aduragbemi & Ayomoh, Francis & Aberjirinde, Ibukun-Oluwa & Banke-Thomas, Oluwasola & Eboreime, Ejemai Amaize & Ameh, Charles, 2021. "Cost of utilising maternal health services in low- and middle-income countries: a systematic review," LSE Research Online Documents on Economics 105081, London School of Economics and Political Science, LSE Library.
    6. Abdelbaste Hrifach & Coralie Brault & Sandrine Couray-Targe & Lionel Badet & Pascale Guerre & Christell Ganne & Hassan Serrier & Vanessa Labeye & Pierre Farge & Cyrille Colin, 2016. "Mixed method versus full top-down microcosting for organ recovery cost assessment in a French hospital group," Health Economics Review, Springer, vol. 6(1), pages 1-7, December.
    7. Banke-Thomas, Aduragbemi & Aberjirinde, Ibukun-Oluwa & Ayomoh, Francis Ifeanyi & Banke-Thomas, Oluwasola & Eboreime, Ejemai Amaize & Ameh, Charles, 2020. "The cost of maternal health services in low-income and middle-income countries from a provider's perspective: a systematic review," LSE Research Online Documents on Economics 104344, London School of Economics and Political Science, LSE Library.
    8. Walsh, Brendan & Keegan, Conor & Brick, Aoife & Connolly, Sheelah & Bergin, Adele & Wren, Maev-Ann & Lyons, Seán & Hill, Leonie & Smith, Samantha, 2021. "Projections of expenditure for primary, community and long-term care Ireland, 2019–2035, based on the Hippocrates model," Research Series, Economic and Social Research Institute (ESRI), number RS126, June.
    9. Irina Pokhilenko & Luca M. M. Janssen & Aggie T. G. Paulus & Ruben M. W. A. Drost & William Hollingworth & Joanna C. Thorn & Sian Noble & Judit Simon & Claudia Fischer & Susanne Mayer & Luis Salvador-, 2023. "Development of an Instrument for the Assessment of Health-Related Multi-sectoral Resource Use in Europe: The PECUNIA RUM," Applied Health Economics and Health Policy, Springer, vol. 21(2), pages 155-166, March.
    10. Chiranjeev Sanyal & Don Husereau, 2020. "Systematic Review of Economic Evaluations of Services Provided by Community Pharmacists," Applied Health Economics and Health Policy, Springer, vol. 18(3), pages 375-392, June.
    11. Andrew J. Mirelman & Miqdad Asaria & Bryony Dawkins & Susan Griffin & Richard Cookson & Peter Berman, 2020. "Fairer Decisions, Better Health for All: Health Equity and Cost-Effectiveness Analysis," World Scientific Book Chapters, in: Paul Revill & Marc Suhrcke & Rodrigo Moreno-Serra & Mark Sculpher (ed.), Global Health Economics Shaping Health Policy in Low- and Middle-Income Countries, chapter 4, pages 99-132, World Scientific Publishing Co. Pte. Ltd..
    12. M. Carreras & M. García-Goñi & P. Ibern & J. Coderch & L. Vall-Llosera & J. Inoriza, 2011. "Estimates of patient costs related with population morbidity: can indirect costs affect the results?," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 12(4), pages 289-295, August.
    13. Christopher M Doran & Irina Kinchin, 2020. "Economic and epidemiological impact of youth suicide in countries with the highest human development index," PLOS ONE, Public Library of Science, vol. 15(5), pages 1-11, May.
    14. Boniface Oyugi & Olena Nizalova & Sally Kendall & Stephen Peckham, 2024. "Does a free maternity policy in Kenya work? Impact and cost–benefit consideration based on demographic health survey data," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 25(1), pages 77-89, February.
    15. Lili Wang & Lei Si & Fiona Cocker & Andrew J. Palmer & Kristy Sanderson, 2018. "A Systematic Review of Cost-of-Illness Studies of Multimorbidity," Applied Health Economics and Health Policy, Springer, vol. 16(1), pages 15-29, February.
    16. Etienne Nédellec & Judith Pineau & Patrice Prognon & Nicolas Martelli, 2018. "Level of Evidence in Economic Evaluations of Left Atrial Appendage Closure Devices: A Systematic Review," Applied Health Economics and Health Policy, Springer, vol. 16(6), pages 793-802, December.
    17. Qi Cao & Erik Buskens & Hans L. Hillege & Tiny Jaarsma & Maarten Postma & Douwe Postmus, 2019. "Stratified treatment recommendation or one-size-fits-all? A health economic insight based on graphical exploration," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 20(3), pages 475-482, April.
    18. Hensher, Martin & Canny, Ben & Zimitat, Craig & Campbell, Julie & Palmer, Andrew, 2020. "Health care, overconsumption and uneconomic growth: A conceptual framework," Social Science & Medicine, Elsevier, vol. 266(C).
    19. Dongzhe Hong & Lei Si & Minghuan Jiang & Hui Shao & Wai-kit Ming & Yingnan Zhao & Yan Li & Lizheng Shi, 2019. "Cost Effectiveness of Sodium-Glucose Cotransporter-2 (SGLT2) Inhibitors, Glucagon-Like Peptide-1 (GLP-1) Receptor Agonists, and Dipeptidyl Peptidase-4 (DPP-4) Inhibitors: A Systematic Review," PharmacoEconomics, Springer, vol. 37(6), pages 777-818, June.
    20. Werner Brouwer & Kaya Verbooy & Renske Hoefman & Job Exel, 2023. "Production Losses due to Absenteeism and Presenteeism: The Influence of Compensation Mechanisms and Multiplier Effects," PharmacoEconomics, Springer, vol. 41(9), pages 1103-1115, September.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:spr:pharme:v:38:y:2020:i:2:d:10.1007_s40273-019-00856-8. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.springer.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.