Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?

Don Husereau¹, Lotte Steuten^{2

3}, Vivek Muthu⁴, David M Thomas^{5

6}, Daryl S Spinner⁷, Craig Ivany⁸, Michael Mengel⁹, Brandon Sheffield¹⁰, Stephen Yip¹¹, Philip Jacobs¹², Terrence Sullivan^{13

14}

Affiliations

¹ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada.
² Office of Health Economics, London SE1 2HB, UK.
³ City Health Economics Centre (CHEC), City University of London, London EC1V 0HB, UK.
⁴ Marivek Healthcare Consulting, Epsom KT18 7PF, UK.
⁵ Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
⁶ Omico, Sydney, NSW 2010, Australia.
⁷ Menarini Silicon Biosystems Inc., Huntingdon Valley, PA 19006, USA.
⁸ Provincial Health Services Authority, Vancouver, BC V5Z 1G1, Canada.
⁹ Department of Laboratory Medicine & Pathology, University of Alberta, Edmonton, AB T6G 2S2, Canada.
¹⁰ William Osler Health System, Brampton, ON L6R 3J7, Canada.
¹¹ Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 1Z7, Canada.
¹² Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.
¹³ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada.
¹⁴ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC H4A 3T2, Canada.

PMID: 36292532
PMCID: PMC9602865
DOI: 10.3390/healthcare10102086

Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?

Don Husereau et al. Healthcare (Basel). 2022.

. 2022 Oct 19;10(10):2086.

doi: 10.3390/healthcare10102086.

Authors

Affiliations

¹ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada.
² Office of Health Economics, London SE1 2HB, UK.
³ City Health Economics Centre (CHEC), City University of London, London EC1V 0HB, UK.
⁴ Marivek Healthcare Consulting, Epsom KT18 7PF, UK.
⁵ Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
⁶ Omico, Sydney, NSW 2010, Australia.
⁷ Menarini Silicon Biosystems Inc., Huntingdon Valley, PA 19006, USA.
⁸ Provincial Health Services Authority, Vancouver, BC V5Z 1G1, Canada.
⁹ Department of Laboratory Medicine & Pathology, University of Alberta, Edmonton, AB T6G 2S2, Canada.
¹⁰ William Osler Health System, Brampton, ON L6R 3J7, Canada.
¹¹ Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 1Z7, Canada.
¹² Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.
¹³ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada.
¹⁴ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC H4A 3T2, Canada.

PMID: 36292532
PMCID: PMC9602865
DOI: 10.3390/healthcare10102086

Abstract

Health systems internationally must prepare for a future of genetic/genomic testing to inform healthcare decision-making while creating research opportunities. High functioning testing services will require additional considerations and health system conditions beyond traditional diagnostic testing. Based on a literature review of good practices, key informant interviews, and expert discussion, this article attempts to synthesize what conditions are necessary, and what good practice may look like. It is intended to aid policymakers and others designing future systems of genome-based care and care prevention. These conditions include creating communities of practice and healthcare system networks; resource planning; across-region informatics; having a clear entry/exit point for innovation; evaluative function(s); concentrated or coordinated service models; mechanisms for awareness and care navigation; integrating innovation and healthcare delivery functions; and revisiting approaches to financing, education and training, regulation, and data privacy and security. The list of conditions we propose was developed with an emphasis on describing conditions that would be applicable to any healthcare system, regardless of capacity, organizational structure, financing, population characteristics, standardization of care processes, or underlying culture.

Keywords: biomedical; clinical governance; diagnostic molecular pathology; diagnostic services; financial support; genetic services; genetic testing; health care innovation; health technology; technology assessment.

PubMed Disclaimer

Conflict of interest statement

The authors declare the following conflicts of interest. DH and LS report funding, outside the submitted work, from various pharmaceutical companies with an interest in genome-based testing and precision medicine. DSS is a salaried employee of Menarini Silicon Biosystems, Inc. (Huntingdon Valley, Pennsylvania, USA) which is a commercial diagnostic manufacturer/ clinical laboratory.VM advises a range of companies, including those with products and services related to the subject of this paper. Dr Muthu holds, and has held shares in health data, health services, healthcare consultancy and biotech companies, and serves or has served in paid non-executive director roles and paid advisory roles in such companies. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

References

1. Califf R.M. Biomarker definitions and their applications. Exp. Biol. Med. 2018;243:213–221. doi: 10.1177/1535370217750088. - DOI - PMC - PubMed
1. Lionel A.C., Costain G., Monfared N., Walker S., Reuter M.S., Hosseini S.M., Thiruvahindrapuram B., Merico D., Jobling R., Nalpathamkalam T., et al. Improved Diagnostic Yield Compared with Targeted Gene Sequencing Panels Suggests a Role for Whole-Genome Sequencing as a First-Tier Genetic Test. Genet. Med. 2018;20:435–443. doi: 10.1038/gim.2017.119. - DOI - PMC - PubMed
1. Tran D.T., Akpinar I., Jacobs P. The Costs of Industry-Sponsored Drug Trials in Canada. PharmacoEconomics. 2020;4:353–359. doi: 10.1007/s41669-019-0161-0. - DOI - PMC - PubMed
1. Polisena J., Castaldo R., Ciani O., Federici C., Borsci S., Ritrovato M., Clark D., Pecchia L. Health Technology Assessment Methods Guidelines For Medical Devices: How Can We Address The Gaps? The International Federation Of Medical And Biological Engineering Perspective. Int. J. Technol. Assess. Health Care. 2018;34:276–289. doi: 10.1017/S0266462318000314. - DOI - PubMed
1. Piña I.L., Cohen P.D., Larson D.B., Marion L.N., Sills M.R., Solberg L.I., Zerzan J. A Framework for Describing Health Care Delivery Organizations and Systems. Am. J. Public Health. 2015;105:670–679. doi: 10.2105/AJPH.2014.301926. - DOI - PMC - PubMed

LinkOut - more resources

Full Text Sources

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?

Affiliations

Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?

Authors

Affiliations

Abstract

Conflict of interest statement

References

LinkOut - more resources

Full Text Sources