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The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence

Robin Z. Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, Taila Hartley, Meryl Acker, Meredith Gillespie, Wendy J. Ungar, Roberto Mendoza-Londona, François P. Bernier, Kym M. Boycott,

Genetics in Medicine · 2021 · 12 citations · 12 references

DOIFull text

Open access

Abstract

Real-world diagnostic testing data can be ascertained and organized to reflect the complexity of the journey of the patients with rare diseases. SOLVE Framework will improve the accuracy and certainty associated with value-based assessments of genomic sequencing.

References

12

Delphi methodology in health research: how to do it?

Esmé Trevelyan, Nicola Robinson · European Journal of Integrative Medicine · 2015 · 672 citations

, , +4

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

Multidimensional Evidence Generation and FDA Regulatory Decision Making

Jonathan P. Jarow, Lisa M. LaVange, Janet Woodcock · JAMA · 2017 · 183 citations

, , +14

Being Precise About Precision Medicine: What Should Value Frameworks Incorporate to Address Precision Medicine? A Report of the Personalized Precision Medicine Special Interest Group

E.C. Faulkner, Anke‐Peggy Holtorf, Surrey M. Walton et al. · Value in Health · 2020 · 108 citations · Full text

, , +9

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia

Clara DM van Karnebeek, Sylvia Stöckler‐Ipsiroglu · Paediatrics & Child Health · 2014 · 58 citations · Full text

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