Projects & Publications

Oncology Outcomes

Oncology Outcomes (O2), a highly experienced resource group dedicated to real-world evidence data generation and integration. Through this collaboration, Roche and O2 will work together to increase RWD acceptability and accessibility across the Canadian ecosystem.


The GeneSolve Study examines the value of genomic sequencing for diagnosing childhood rare diseases. Through a cross-institutional collaboration with Oxford University, PACER is developing new ways to address the high levels of uncertainty introduced by multi-omics technologies. This multi-country approach to economic analyses will support the timely and appropriate adoption of genomics for better diagnosing and treating children with rare diseases across jurisdictions.


The Center for Translational and Policy Research on Precision Medicine (TRANSPERS) is the premier research organization for developing evidence-based information about the use of precision medicine.

Related Publications

  • Gupta A, Cafazzo JA, IJzerman MJ, Swart JF, Vastert S, Wulffraat NM, Benseler S, Marshall D, Yeung R, Twilt M. Genomic Health Literacy Interventions in Pediatrics: Scoping Review. J Med Internet Res. 2021 Dec 24;23(12):e26684. PMID: 34951592.

  • Pearson SA, Pratt N, de Oliveira Costa J, Zoega H, Laba TL, Etherton-Beer C, Sanfilippo FM, Morgan A, Kalisch Ellett L, Bruno C, Kelty E, IJzerman M, Preen DB, Vajdic CM, Henry D. Generating Real-World Evidence on the Quality Use, Benefits and Safety of Medicines in Australia: History, Challenges and a Roadmap for the Future. Int J Environ Res Public Health. 2021 Dec 18;18(24):13345. PMID: 34948955.

  • Yuen T, Carter MT, Szatmari P, Ungar WJ. Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder. Appl Health Econ Health Policy. 2018 Aug;16(4):481-493. PMID: 29651777.

  • Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, Hartley T, Acker M, Gillespie M, Ungar WJ, Mendoza-Londona R, Bernier FP, Boycott KM, Marshall DA. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence. Genet Med. 2021 Dec 3. Epub ahead of print.

  • Weymann D, Laskin J, Jones SJM, Roscoe R, Lim HJ, Renouf DJ, Schrader KA, Sun S, Yip S, Marra MA, Regier DA. Early-stage economic analysis of research-based comprehensive genomic sequencing for advanced cancer care. J Community Genet. 2021 Nov 29:1–16. Epub ahead of print. PMID: 34843087.

  • Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Do research participants share genomic screening results with family members? J Genet Couns. 2021 Oct 19. Epub ahead of print. PMID: 34665896.

  • Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC. Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization. Am J Hum Genet. 2021 Nov 3:S0002-9297(21)00382-7. Epub ahead of print. PMID: 34752750.

  • Schroeder BE, Gonzaludo N, Everson K, Than KS, Sullivan J, Taft RJ, Belmont JW. The diagnostic trajectory of infants and children with clinical features of genetic disease. NPJ Genom Med. 2021 Nov 22;6(1):98. PMID: 34811359; PMCID: PMC8609026.

  • Douglas MP, Lin GA, Trosman JR, Phillips KA. Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants. J Community Genet. 2021 Nov 6. Epub ahead of print. PMID: 34743282.

  • Jayasinghe K., Wu Y., Stark Z., Kerr P.G., Mallett A.J., Gaff C., Martyn M., Goranitis I., Quinlan C. Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases. Kidney Intl. Rep. 2021 6:11 (2850-2861).

  • 100,000 Genomes Project Pilot Investigators (including Wordsworth S and Buchanan J). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. PMID: 34758253.

  • Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. Patient. 2021 Oct 18. doi: 10.1007/s40271-021-00558-4. Epub ahead of print. PMID: 34658003.

  • Meng Y, Clarke PM, Goranitis I. The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions. Pharmacoeconomics. 2021 Oct 21. doi: 10.1007/s40273-021-01103-9. Epub ahead of print. PMID: 34671943.

  • O'Brien G, Christensen KD, Sullivan HK, Stout NK, Diller L, Yeh JM, Wu AC. Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants. JAMA Netw Open. 2021 Oct 1;4(10):e2129742. doi: 10.1001/jamanetworkopen.2021.29742. PMID: 34661666.

  • Witteman HO, Ndjaboue R, Vaisson G, Dansokho SC, Arnold B, Bridges JFP, Comeau S, Fagerlin A, Gavaruzzi T, Marcoux M, Pieterse A, Pignone M, Provencher T, Racine C, Regier D, Rochefort-Brihay C, Thokala P, Weernink M, White DB, Wills CE, Jansen J. Clarifying Values: An Updated and Expanded Systematic Review and Meta-Analysis. Med Decis Making. 2021 Oct;41(7):801-820. doi: 10.1177/0272989X211037946. PMID: 34565196; PMCID: PMC8482297.

  • Chan KKW, Cheung MC, Regier DA, Hay A, Louie AV, Cheung WY, Tarride JE, Udayakumar S, Mittmann N. The Past, Present, and Future of Economic Evaluations of Precision Medicine at the Committee for Economic Analyses of the Canadian Cancer Trials Group. Curr Oncol. 2021 Sep 21;28(5):3649-3658. doi: 10.3390/curroncol28050311. PMID: 34590616; PMCID: PMC8482104.

  • Mighton C, Clausen M, Sebastian A, Muir SM, Shickh S, Baxter NN, Scheer A, Glogowski E, Schrader KA, Thorpe KE, Kim THM, Lerner-Ellis J, Kim RH, Regier DA, Bayoumi AM, Bombard Y. Patient and public preferences for being recontacted with updated genomic results: a mixed methods study. Hum Genet. 2021 Sep 18. doi: 10.1007/s00439-021-02366-0. Epub ahead of print. PMID: 34537903.

  • Weymann D, Laskin J, Jones SJM, Lim H, Renouf DJ, Roscoe R, Schrader KA, Sun S, Yip S, Marra MA, Regier DA. Matching methods in precision oncology: An introduction and illustrative example. Mol Genet Genomic Med. 2021 Jan;9(1):e1554. doi: 10.1002/mgg3.1554. Epub 2020 Nov 25. PMID: 33237632; PMCID: PMC7963415.

  • Morrell L, Buchanan J, Rees S, Barker RW, Wordsworth S. What Aspects of Illness Influence Public Preferences for Healthcare Priority Setting? A Discrete Choice Experiment in the UK. Pharmacoeconomics. 2021 Aug 19. doi: 10.1007/s40273-021-01067-w. Epub ahead of print. PMID: 34409564.

  • IJzerman MJ. Cost of colorectal cancer care: sufficient to inform cancer policy? Lancet Gastroenterol Hepatol. 2021 Sep;6(9):679-680. doi: 10.1016/S2468-1253(21)00177-1. Epub 2021 Jul 28. PMID: 34329625.

  • Christensen KD, Schonman EF, Robinson JO, Roberts JS, Diamond PM, Lee KB, Green RC, McGuire AL. Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients. NPJ Genom Med. 2021 Aug 24;6(1):72. doi: 10.1038/s41525-021-00236-2. PMID: 34429410.

  • Cernat A, Hayeems RZ, Ungar WJ. Cascade health service use in family members following genetic testing in children: a scoping literature review. Eur J Hum Genet. 2021 Aug 26. doi: 10.1038/s41431-021-00952-4. Epub ahead of print. PMID: 34446836.

  • Gonzalez Sepulveda JM, Johnson FR, Marshall DA. Incomplete information and irrelevant attributes in stated-preference values for health interventions. Health Econ. 2021 Jul 30. doi: 10.1002/hec.4406. Epub ahead of print. PMID: 34331384.

  • Degeling K., Pereira-Salgado A., Corcoran N.M., Boutros P.C., Kuhn P., IJzerman M.J. Health Economic Evidence for Liquid- and Tissue-based Molecular Tests that Inform Decisions on Prostate Biopsies and Treatment of Localised Prostate Cancer: A Systematic Review. European Urology Open Science. 2021;27:77-87.

  • IJzerman MJ, de Boer J, Azad A, Degeling K, Geoghegan J, Hewitt C, Hollande F, Lee B, To YH, Tothill RW, Wright G, Tie J, Dawson SJ. Towards Routine Implementation of Liquid Biopsies in Cancer Management: It Is Always Too Early, until Suddenly It Is Too Late. Diagnostics (Basel). 2021 Jan 11;11(1):103. PMID: 33440749.

  • Wu Y, Balasubramaniam S, Rius R, Thorburn DR, Christodoulou J, Goranitis I. Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation. Eur J Hum Genet. 2021 Jun 8. PMID: 34099885.

  • To YH, Degeling K, Kosmider S, Wong R, Lee M, Dunn C, Gard G, Jalali A, Wong V, IJzerman M, Gibbs P, Tie J. Circulating Tumour DNA as a Potential Cost-Effective Biomarker to Reduce Adjuvant Chemotherapy Overtreatment in Stage II Colorectal Cancer. Pharmacoeconomics. 2021 Jun 5. PMID: 34089503.

  • Weymann D, Pollard S, Chan B, Titmuss E, Bohm A, Laskin J, Jones SJM, Pleasance E, Nelson J, Fok A, Lim H, Karsan A, Renouf DJ, Schrader KA, Sun S, Yip S, Schaeffer DF, Marra MA, Regier DA. Clinical and cost outcomes following genomics-informed treatment for advanced cancers. Cancer Med. 2021 Jun 21. PMID: 34152087.

  • Downie L, Amor DJ, Halliday J, Lewis S, Martyn M, Goranitis I. Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis. Laryngoscope. 2020 Dec 31. doi: 10.1002/lary.29356. Epub ahead of print. PMID: 33382469.

  • Vellekoop H, Huygens S, Versteegh M, Szilberhorn L, Zelei T, Nagy B, Koleva-Kolarova R, Tsiachristas A, Wordsworth S, Rutten-van Mölken M; HEcoPerMed Consortium. Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine. Pharmacoeconomics. 2021 Apr 16. doi: 10.1007/s40273-021-01010-z. Epub ahead of print. PMID: 33860928.

  • Smith HS, McGuire AL, Wittenberg E, Lavelle TA. Family-level impact of genetic testing: integrating health economics and ethical, legal, and social implications. Per Med. 2021 May;18(3):209-212. doi: 10.2217/pme-2021-0016. Epub 2021 Mar 17. PMID: 33728981.

  • Pasmans CTB, Tops BBJ, Steeghs EMP, Coupé VMH, Grünberg K, de Jong EK, Schuuring EMD, Willems SM, Ligtenberg MJL, Retèl VP, van Snellenberg H, de Bruijn E, Cuppen E, Frederix GWJ. Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing. Expert Rev Pharmacoecon Outcomes Res. 2021 May 6:1-11. doi: 10.1080/14737167.2021.1917385. Epub ahead of print. PMID: 33852815.

  • van de Ven M, Simons MJHG, Koffijberg H, Joore MA, IJzerman MJ, Retèl VP, van Harten WH. Whole genome sequencing in oncology: using scenario drafting to explore future developments. BMC Cancer. 2021 May 1;21(1):488. doi: 10.1186/s12885-021-08214-8. PMID: 33933021; PMCID: PMC8088550.

  • Simons M, van de Ven M, Coupé V, Joore M, IJzerman M, Koffijberg E, Frederix G, Uyl-De Groot C, Cuppen E, van Harten W, Retèl V. Early technology assessment of using whole genome sequencing in personalised oncology. Expert Rev Pharmacoecon Outcomes Res. 2021 Apr 29. doi: 10.1080/14737167.2021.1917386. Epub ahead of print. PMID: 33910430.