Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus

Priya S. Kishnani, Walla Al-Hertani, Manisha Balwani, Özlem Göker-Alpan, Heather A. Lau, Melissa Wasserstein, Neal J. Weinreb, Gregory Grabowski

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Several guidelines are available for identification and management of patients with Gaucher disease, but the most recent guideline was published in 2013. Since then, there have been significant advances in newborn screening, phenotypic characterization, identification of biomarkers and their integration into clinical practice, and the development and approval of new treatment options. Accordingly, the goal of this Delphi consensus exercise was to extend prior initiatives of this type by addressing issues related to newborn screening, diagnostic evaluations, and treatment (both disease directed and adjunctive). The iterative Delphi process involved creation of an initial slate of statements, review by a steering committee, and three rounds of consensus development by an independent panel. A preliminary set of statements was developed by the supporting agency based on literature searches covering the period from 1965 to 2020. The Delphi process reduced an initial set of 185 statements to 65 for which there was unanimous support from the panel. The statements supported may ultimately provide a framework for more detailed treatment guidelines. In addition, the statements for which unanimous support could not be achieved help to identify evidence gaps that are targets for future research.

Original languageEnglish (US)
Pages (from-to)154-162
Number of pages9
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Feb 2022


  • Genotype
  • Newborn screening
  • Phenotype
  • Recommendations

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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