在NYCKidSeq程序中披露诊断测序结果后的医生服务和费用
Asem Berkalieva1, Nicole R Kelly2, Ashley Fisher3
1Institute for Healthcare Delivery Science, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY.
概括
返回诊断测序结果并没有显著增加下游医生服务或儿科患者的成本. 需要进一步的大规模研究来证实这些遗传测试结果的发现.
科学领域:
- 遗传学 是一个遗传学.
- 儿科医学 儿科医学
- 卫生经济学 卫生经济学
背景情况:
- 儿童遗传性疾病往往需要广泛的诊断工作.
- 诊断测序为识别遗传病因提供了一个强大的工具.
- 了解返回这些结果的临床和经济影响至关重要.
研究的目的:
- 评估返回诊断测序结果对临床行动和经济结果的影响.
- 评估对疑似遗传疾病的儿科患者的影响.
主要方法:
- 利用了0-21岁的疑似遗传疾病患者的纵向医生索赔数据.
- 评估了专家咨询率和18个月的医生服务和后续测序后的成本.
- 包括患有神经,心脏和免疫疾病的患者.
主要成果:
- 积极的发现 (72%) 更有可能促使专家咨询建议,而不是不确定的 (23%) 或负面的 (21%) 发现.
- 只有30%的推咨询发生了.
- 在对积极或不确定的发现进行多变量调整后,没有观察到下游医生服务或成本的显著增加.
结论:
- 返回诊断测序结果并没有导致下游医疗保健利用率或成本的显著增加.
- 研究结果表明,基因测序在这种儿科患者群体中可能具有成本效益.
- 需要进一步的大规模纵向研究来验证这些经济和临床结果的发现.
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