Krieg Elizabeth, Calderwood Laurel, Campion MaryAnn, Krepkovich Katherine E
Boston University School of Medicine, Genetic Counseling Program, Boston, USA.
Boston University School of Medicine, Genetic Counseling Program, Boston, USA.
Mitochondrion. 2016 May;28:60-6. doi: 10.1016/j.mito.2016.03.008. Epub 2016 Mar 25.
This study assessed attitudes and beliefs regarding the importance of a genetic versus non-genetic diagnosis within the mitochondrial disease community. Survey respondents were categorized into two groups - those with a genetic diagnosis, and those with a non-genetic diagnosis of mitochondrial disease. We found that while both groups perceive problems with the support available to adult mitochondrial disease patients, the non-genetic group experiences less medical and social support due to lack of a definitive diagnosis. Understanding the efficacy of existing resources for mitochondrial disease sub-groups will allow for the development or improvement of resources designed to meet patient needs.
本研究评估了线粒体疾病群体中关于基因诊断与非基因诊断重要性的态度和信念。调查对象被分为两组——基因诊断组和线粒体疾病非基因诊断组。我们发现，虽然两组都认为成年线粒体疾病患者可获得的支持存在问题，但非基因诊断组由于缺乏明确诊断而获得的医疗和社会支持较少。了解现有资源对线粒体疾病亚组的有效性，将有助于开发或改进旨在满足患者需求的资源。
