Crotched Mountain Foundation, Greenfield, New Hampshire, USA.
Genet Med. 2013 Mar;15(3):174-7. doi: 10.1038/gim.2012.122. Epub 2013 Jan 31.
The care of individuals with rare heritable conditions, such as those detectable through newborn screening, is an important target for quality improvement. Not only is there great opportunity to improve long-term outcomes, but there are lessons that can be generalized to the care of all children with special health-care needs. To identify an approach to quality improvement for individuals with conditions identified through newborn screening, the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives convened an expert workgroup to develop strategies based on a family-centered, community-based system of care. These recommendations centered on involving families, the primary care medical home, and specialty care providers as equal partners. Key activities to improve care include explicit care coordination, identification of the location of management, and planned co-management. To implement this model of care, the Regional Collaboratives will develop a clearinghouse of tools, engage in activities to evaluate the effectiveness of interventions to improve co-management, and identify strategies to align incentives for health-care providers and families to work together.
对个体罕见遗传疾病（如通过新生儿筛查可检测到的疾病）的护理是质量改进的一个重要目标。不仅有很大的机会改善长期结果，而且还有可以推广到所有有特殊医疗需求的儿童护理的经验教训。为了确定通过新生儿筛查发现的疾病的质量改进方法，国家协调中心召集了一个专家工作组，根据以家庭为中心、以社区为基础的护理系统制定了战略。这些建议的重点是让家庭、初级保健医疗之家和专科保健提供者作为平等的合作伙伴参与进来。改善护理的关键活动包括明确的护理协调、确定管理地点和计划共同管理。为了实施这种护理模式，区域合作组织将开发一个工具中心，开展活动评估改善共同管理的干预措施的有效性，并确定使医疗保健提供者和家庭共同努力的激励策略。
