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Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2024-02-29 , DOI: 10.1016/j.ymgme.2024.108361 Allysa M. Kuypers , Kimber Evers-van Vliet , Anita MacDonald , Kirsten Ahring , David Abeln , Suzanne Ford , Sanne Hildebrandt-Karlsen , Francjan J. van Spronsen , M. Rebecca Heiner-Fokkema
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2024-02-29 , DOI: 10.1016/j.ymgme.2024.108361 Allysa M. Kuypers , Kimber Evers-van Vliet , Anita MacDonald , Kirsten Ahring , David Abeln , Suzanne Ford , Sanne Hildebrandt-Karlsen , Francjan J. van Spronsen , M. Rebecca Heiner-Fokkema
Phenylketonuria (PKU) requires regular phenylalanine monitoring to ensure optimal outcome. However, home sampling methods used for monitoring suffer high pre-analytical variability, inter-laboratory variability and turn-around-times, highlighting the need for alternative methods of home sampling or monitoring. A survey was distributed through email and social media to (parents of) PKU patients and professionals working in inherited metabolic diseases in Denmark, The Netherlands, and United Kingdom regarding satisfaction with current home sampling methods and expectations for future point-of-care testing (POCT). 210 parents, 156 patients and 95 professionals completed the survey. Countries, and parents and patients were analysed together, in absence of significant group differences for most questions. The PKU community is (somewhat) dissatisfied with current home sampling methods, highlighting the need for alternatives of Phe monitoring. POCT might be such an alternative and the community is eager for its arrival.
更新日期：2024-02-29
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