Abstract
We conducted a survey of physician opinions in relation to enzyme replacement therapy (ERT) and extended newborn screening (ENBS) for mucopolysaccharidoses (MPS). A questionnaire consisting of hypothetical clinical scenarios about ERT and ENBS for MPS was posted on metab-L, a list server for the metabolic community. The questionnaire included similar questions to those used in previous studies that sought the views of individuals and families affected by MPS. Our aim was to compare medical professionals’ opinions with that of the individuals and families affected by MPS that they serve. The questionnaire was completed by 35 physicians, most of whom were metabolic physicians. Responses differed significantly between the physician and parent groups when the clinical scenario involved intellectual impairment. In this setting, physicians were significantly less inclined to advocate the use of ERT. Comparison of the responses to the ENBS scenarios revealed that compared to physicians, family of individuals with MPS were more inclined to desire diagnosis at birth, even if no treatment could alter the outcome of the condition. Compared to the family of individuals with MPS, physicians are more likely to advocate the use of ERT and ENBS where there is proven medical benefit to the affected individual.
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Acknowledgments
We thank the MPS societies of Australia and the USA for distributing the questionnaires and those who took the time to complete the surveys. We thank Drs. Heidi Peters and Joy Lee for their helpful comments in relation to the manuscript. We also thank the Information Technology Department at Murdoch Childrens Research Institute for their assistance in developing the web-based questionnaire. MBD is an NHMRC Practitioner Fellow. All authors have contributed to the planning, data interpretation, and manuscript production, and have reviewed the material, agreed to its content, and declared no conflict of interests. Ethics approval and funding were not required for this survey-based study. Prof. Martin B Delatycki is the guarantor for the manuscript.
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Compared to the family of individuals with MPS, physicians are more likely to advocate the use of enzyme replacement therapy and extended newborn screening where there is proven medical benefit to the affected individual.
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Coman, D.J., Hayes, I.M., Collins, V., Sahhar, M., Wraith, J.E., Delatycki, M.B. (2011). Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians. In: JIMD Reports - Case and Research Reports, 2011/1. JIMD Reports, vol 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_9
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DOI: https://doi.org/10.1007/8904_2011_9
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