Merencilla Roxanne Janica E, Maceda Ebner Bon G, Basas Jeanne Ruth U, Adducul Rufus Thomas Y, Francisco Ma Lourdes, Licudo Justin Von, de Castro-Hamoy Leniza G
Center for Human Genetics Services, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Department of Pediatrics, Philippine General Hospital, Manila, Philippines.
J Community Genet. 2024 Dec;15(6):699-710. doi: 10.1007/s12687-024-00743-6. Epub 2024 Oct 16.
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is expensive and not widely available in local laboratories. The newborn screening program in the Philippines uses dried blood spot (DBS) analysis as an alternative where only trained healthcare providers are allowed to perform the collection at selected facilities. With the increasing number of patients, DBS monitoring has been noted to be delayed due to multiple factors. This issue became even more evident during the COVID-19 pandemic where high-risk patients need to travel outside for blood collection. The study used a cross-sectional study design to determine the primary caregivers' perspective on DBS self-sampling for patients with MSUD and PKU and the acceptability of the samples collected. This was done through a series of collection training, pre-/post- surveys, and 10-item questionnaire, and an in-depth 1-on-1 interview for thematic analysis. The acceptability of samples was processed and evaluated by the newborn screening laboratory. At-home DBS collection by primary caregivers was found to be acceptable. The provision of knowledge and routine collection training by the medical team aids in the increase of sample acceptability as well as a source of empowerment in being equipped to take care of their child. It is highly recommended that DBS samples collected by caregivers be considered acceptable for more time and cost-saving monitoring of the patients' metabolites. This practice also promotes timely and appropriate management which can lead to better patient health outcomes.
枫糖尿症（MSUD）和苯丙酮尿症（PKU）需要终身管理，因此，需要定期监测氨基酸水平以实现良好的代谢控制。理想情况下，血浆氨基酸分析（PLAA）用于监测浓度，但成本高昂且当地实验室无法广泛提供。菲律宾的新生儿筛查项目采用干血斑（DBS）分析作为替代方法，只有经过培训的医疗保健提供者才被允许在选定的机构进行采集。随着患者数量的增加，由于多种因素，DBS监测被发现存在延迟。在新冠疫情期间，这个问题变得更加明显，因为高危患者需要前往外地进行采血。该研究采用横断面研究设计，以确定主要照顾者对MSUD和PKU患者DBS自我采样的看法以及所采集样本的可接受性。这是通过一系列采集培训、调查前/后以及一份10项问卷，并进行深入的一对一访谈以进行主题分析来完成的。样本的可接受性由新生儿筛查实验室进行处理和评估。主要照顾者在家中进行DBS采集被认为是可以接受的。医疗团队提供知识和常规采集培训有助于提高样本可接受性，同时也是照顾孩子的一种能力提升来源。强烈建议照顾者采集的DBS样本在监测患者代谢物时可被接受更长时间，且更节省时间和成本。这种做法还能促进及时和适当的管理，从而带来更好的患者健康结果。
