Genomics and precision medicine are being increasingly integrated into clinical practice. These technologies may lead to better diagnostic accuracy, earlier referral to appropriate treatment interventions and a better treatment response based on targeted use of drugs and other interventions. However, new generations of sequencing technologies are costly and can produce additional findings that result in further downstream healthcare costs. It is not yet clear whether such technologies are cost-effective or where they should be positioned in a diagnostic pathway to maximize value for money. TASK force members are working to generate evidence regarding economic value, including social and ethical considerations to inform implementation.
Costs and cost-effectiveness of whole genome sequencing in paediatric cardiac conditions
- Prospective study led by Drs. Wendy Ungar and Robin Hayeems on clinical utility and cost-effectiveness of whole genome sequencing for children with cardiomyopathy. In progress.
- Jegathisawaran J, Tsiplova K, Hayeems R, Ungar WJ. Microcosting of whole genome sequencing (WGS) of trios in a heterogeneous pediatric cardiac population. Task Report No. 2020-01. 2020. Highlights, Executive Summary, Full Report.
Costs and cost-effectiveness of alternative genome-based diagnostic strategies in pediatric neurodevelopmental disorders and rare diseases
- Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, Hartley T, Acker M, Gillespie M, Ungar WJ, Mendoza-Londana R, Bernier F, Boycott KM, Marshall DA. The complexity of diagnosing rare disease: An organising framework for outcomes research and health economics based on real world evidence. Genetics in Medicine, 2021.
- Li C, Vandersluis S, Holubowich C, Ungar WJ, Goh ES, Boycott KM, Sikich N, Dhalla I, Ng V. Correspondence on “Cost or price of sequencing? Implications for economic evaluations in genomic medicine” by Grosse and Gudgeon. Genetics in Medicine, 2022; 24: 251-252.
- Li C, Vandersluis S, Holubowich C, Ungar WJ, Goh ES, Boycott KM, Sikich N, Dhalla I, Ng V. Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies. Genetics in Medicine. 2021; 23(1): 451-460.
- Jegathisawaran J, Tsiplova K, Hayeems R, Ungar WJ. Determining precise costs for genomic sequencing technologies – A necessary prerequisite. Journal of Community Genetics, 2020; 11(2): 235-238.
- Yuen T, Penner M, Carter MT, Szatmari P, Ungar WJ. Cost-effectiveness of genome and exome sequencing in children diagnosed with autism spectrum disorder.Applied Health Economics & Health Policy, 2018; 16(4): 481-493.
- Jegathisawaran J, Tsiplova K, Ungar WJ. A microcosting and cost-consequence analysis of genomic testing strategies (including trios) in autism spectrum disorder. TASK Report No. 2018-01. 2018. Highlights, Executive Summary, Full Report, Appendices, Supplement, Fact Sheet
- Yuen T. Generating Evidence to Streamline the Clinical Pathway in Autism Spectrum Disorder Using Simulation Models: Cost-effectiveness Comparisons of Screening and Genetic Testing Strategies. Doctoral Dissertation. June 2017.
- Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. European Journal of Human Genetics, 2017; 25(12): 1303-1312.
- Oei K, Hayeems R, Ungar WJ, Cohn RD, Cohen E. Genetic testing among children in a complex care program. Children. 2017; 4(5): 42.
- Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ. A microcosting and cost-consequence analysis of genomic testing strategies in autism spectrum disorder. Genetics in Medicine. 2017; 19(11): 1268-1275.
- Tsiplova K. Zur RM, Ungar WJ. A microcosting and cost-consequence analysis of genomic testing strategies in developmental delay and autism spectrum disorder. TASK Report No. 2016-02.2. 2016. Highlights, Executive Summary, Full Report, Appendices, Supplement
The clinical and personal utility of genomic testing
- Prospective study led by Drs. Robin Hayeems and Wendy Ungar to develop and validate psychometric tools to quantify the clinical and personal utility of genetic tests. In Progress.
- Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability. Genetics in Medicine, 2021.
- Hayeems RZ, Luca S, Assamad DA, Bhatt A, Ungar WJ. Utility of genetic testing from the perspective of parents/caregivers: A scoping review. Children, 2021; 8(4): 259.
- Hayeems RZ, Luca S, Ungar WJ, Bhatt A, Chad L, Pullenayegum E, Meyn MS. The development of the Clinician-reported Genetic testing Utility Index (C-GUIDE): A novel strategy for measuring the clinical utility of genetic testing. Genetics in Medicine, 2020; 22: 95-101.
- Hayeems RZ, Ungar WJ, Luca S, Pullenayegum E, Meyn MS. Genome diagnostics: Novel strategies for measuring value. Managed Care and Specialty Pharmacy, 2019; 25(10): 1096-1101.
Cascade genetic testing
- Cernat A, Hayeems RZ, Ungar WJ. Cascade health service use in family members following genetic testing in children: A scoping literature review. European Journal of Human Genetics, 2021.
- Cernat A, Hayeems RZ, Prosser LA, Ungar WJ. Incorporating cascade effects of genetic testing in economic evaluation: A scoping review of methodological challenges. Children, 2021, 8(5): 346.
Genome sequencing policy research
- Bashir N, Ungar WJ. The 3-I Framework: A framework for developing public policies regarding pharmacogenomics (PGx) testing in Canada. Genome. 2015; 58(12): 527-540.
- Caulfield T, Evans J, McGuire A, McCabe C, Bubela T, Cook-Deegan R, Fishman J, Hogarth S, Miller FA, Raviskty V, Biesecker B, Borry P, Cho M, Carroll JC, Etchegary H, Joly Y, Kato K, Soo-Jin Lee S, Rothenberg K, Sankar P, Szego MJ, Ossorio P, Pullman D, Rousseau F, Ungar WJ, Wilson B. Reflections on the cost of “low-cost” whole genome sequencing: Framing the health policy debate. PLoS Biology. 2013; 11(11): e1001699.
A cost-effectiveness analysis of maternal genotyping to guide treatment for postpartum pain and avert infant adverse events
- Moretti ME, Lato DF, Berger H, Koren G, Ito S, Ungar WJ. A cost-effectiveness analysis of maternal genotyping to guide treatment for postpartum pain and avert infant adverse events. The Pharmacogenomics Journal. 2018; 18(3): 391-397.
- Moretti ME, Ungar WJ, Berger H, Koren G, Ito S. A cost-effectiveness analysis of maternal genotyping to guide treatment for postpartum pain and avert infant adverse events. TASK Report No. 2015-01. Highlights, Executive Summary, Full Report
- Moretti ME. A Cost-effectiveness Analysis of Maternal Genotyping to Guide Treatment for Postpartum Pain and Avert Infant Adverse Events. November 2014.
Cost-effectiveness analysis of thiopurine methyltransferase genotype testing
- Zur RM, Roy L, Ito S, Beyene J, Carew C, Ungar WJ. Thiopurine s-methyltransferase testing for averting drug toxicity: A meta-analysis of diagnostic test accuracyThe Pharmacogenomics Journal. 2016; 16(4): 305-311.
- Zur RM, Roy LM, Ungar WJ. Thiopurine s-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: A meta-analysis of diagnostic test accuracy. Toronto: The Hospital for Sick Children, October 2015. TASK Report No. 2015-03. Highlights, Executive Summary, Full Report, Appendices
- Roy L, Zur RM, Ungar WJ. Thiopurine s-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: A systematic review and quality appraisal. TASK Report No. 2015-02. Highlights, Executive Summary, Full Report, Appendices
- Burnett HF, Tanoshima R, Chandranipapongse W, Madadi P, Ito S, Ungar WJ. Testing for thiopurine methyltransferase status for safe and effective administration of thiopurines: A systematic review of clinical guidance documents. The Pharmacogenomics Journal. 2014; 14(6):493-502.
- Burnett H, Chandranipapongse W, Tanoshima R, Ito S, Ungar WJ. Thiopurine dosing using thiopurine methyltransferase status: A systematic review of clinical guidance. TASK Report No. 2013-02. Highlights, Executive Summary, Full Report, Appendices
- Donnan JR, Ungar WJ, Mathews M, Rahman P. Systematic review of thiopurine methyltransferase genotype and enzymatic testing strategies. Therapeutic Drug Monitoring. 2011; 33:192–199.
- Donnan JR, Ungar WJ, Mathews M, Hancock-Howard RL, Rahman P. A cost effectiveness analysis of thiopurine methyltransferase testing for guiding 6-mercaptopurine dosing in children with acute lymphoblastic leukemia.Pediatric Blood & Cancer. 2011; 57:231-239.
- Donnan J, Ungar WJ, Mathews M, Hancock Howard R. Health technology assessment of thiopurine methyltransferase genetic testing for guiding 6-mercaptopurine doses in pediatric patients with acute lymphoblastic leukemia, TASK Report No. 2010-02. 2010. Highlights, Executive Summary, Full Report, Appendices
Other
- Xie X, Wang M, Goh ES-Y, Ungar WJ, Little J, Carroll JC, Okun N, Huang T, Rousseau F, Dougan S, Tu HA, Higgins C, Holubowich C, Sikich N, Dhalla IA, Ng V. Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions in average-risk pregnancies: A cost-effectiveness analysis. Journal of Obstetrics and Gynaecology Canada. 2020; 42(6): 740-749.