Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists

Abstract

Introduction: The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors. Given the wide range of NF symptoms and medical specialties involved in NF care, we sought to evaluate the level of awareness of, and agreement with, published NF clinical guidelines among NF specialists in the United States.

Methods: An anonymous, cross-sectional, online survey was distributed to U.S.-based NF clinicians. Respondents self-reported demographics, practice characteristics, awareness of seven NF guideline publications, and level of agreement with up to 40 individual recommendations using a 5-point Likert scale. We calculated the proportion of recommendations that each clinician rated "strongly agree", and assessed for differences in guideline awareness and agreement by respondent characteristics.

Results: Sixty-three clinicians (49% female; 80% academic practice) across > 8 medical specialties completed the survey. Awareness of each guideline publication ranged from 53%-79% of respondents; specialists had higher awareness of publications endorsed by their medical professional organization (p < 0.05). The proportion of respondents who "strongly agree" with individual recommendations ranged from 17%-83%; for 16 guidelines, less than 50% of respondents "strongly agree". There were no significant differences in overall agreement with recommendations based on clinicians' gender, race, specialty, years in practice, practice type (academic/private practice/other), practice location (urban/suburban/rural), or involvement in NF research (p > 0.05 for all).

Conclusions: We identified wide variability in both awareness of, and agreement with, published NF care guidelines among NF experts. Future quality improvement efforts should focus on evidence-based, consensus-driven methods to update and disseminate guidelines across this multi-specialty group of providers. Patients and caregivers should also be consulted to proactively anticipate barriers to accessing and implementing guideline-driven care. These recommendations for improving guideline knowledge and adoption may also be useful for other rare diseases requiring multi-specialty care coordination.

Keywords: Implementation science; Neurofibromatosis 1; Neurofibromatosis 2; Practice guidelines; Rare diseases; Schwannomatosis.

Conflict of interest statement

The authors report no conflicts of interest pertinent to this manuscript. Financial disclosures for authors include the following: Dr. Merker reports consulting income from the Neurofibromatosis Network. Ms. Knight and Ms. Radtke are employees of the Children’s Tumor Foundation. Dr. Yohay reports consulting income from AstraZeneca and receives royalties from Wolters Kluwer. Dr. Ullrich reports patents held with University of Alabama Research Foundation; royalties from UpToDate; honoraria for speaking with AstraZeneca, and research support from the Children’s Tumor Foundation, Department of Defense and National Institutes of Health. Dr. Plotkin is co-founder of NFlection Therapeutics, Inc. and of NF2 Therapeutics, Inc and a consultant for AstraZeneca and for SonalaSense. Dr. Jordan receives royalties from Elsevier and reports consulting income from Navio Theragnostics, Health2047, and from CereXis.

© 2022. The Author(s).

Figures

Fig. 1

NF Clinician Agreement with Neurofibromatosis 1 Recommendations. Stacked bar charts displaying the percentage of clinicians who “strongly agreed” (dark blue), “agreed” (orange), were “neutral” (gray), “disagreed” (yellow), or “strongly disagreed” (light blue) with each recommendation. Overlaid boxes display the percentage of clinicians who “strongly agreed” (dark blue) and “agreed” (orange) with each recommendation, rounded to the nearest percentage point. Recommendations are presented with short descriptions for reference; for full text and citations please refer to Table 1, where all recommendations are presented in the same rank order. CT = computerized tomography; HTN = hypertension; NF = neurofibromatosis; MPNST = malignant peripheral nerve sheath tumor; MRA = magnetic resonance angiography; MRI = magnetic resonance imaging; WBMRI = whole body magnetic resonance imaging

Fig. 2

NF Clinician Agreement with Neurofibromatosis 2 and Schwannomatosis Recommendations. Stacked bar charts displaying the percentage of clinicians who “strongly agreed” (dark blue), “agreed” (orange), were “neutral” (gray), “disagreed” (yellow), or “strongly disagreed” (light blue) with each recommendation. Overlaid boxes display the percentage of clinicians who “strongly agreed” (dark blue) and “agreed” (orange) with each recommendation, rounded to the nearest percentage point. Recommendations are presented with short descriptions for reference; for fulltext and citations please refer to Table 1, where all recommendations are presented in the same rank order. NF = neurofibromatosis; MRI = magnetic resonance imaging; PTA = pure tone average; WRS = word recognition score. SMARCB1 and LZTR1 refer to gene variants known to cause schwannomatosis