Olson Marianne, Anderson Jeffrey, Knapke Sara, Kushner Adam, Martin Lisa, Statile Christopher, Shikany Amy, Miller Erin M
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
J Genet Couns. 2025 Apr;34(2):e1984. doi: 10.1002/jgc4.1984. Epub 2024 Oct 14.
Genetic counseling is an important component of pediatric cardiac care. The financial costs and benefits of this care have yet to be defined in the literature. Downstream revenue (DSR) analysis can be used to assess the economic impact of genetic counselors (GCs) at their institution beyond the initial patient contact. Previous literature has reported DSR generated by oncology GCs, but there is no published DSR data from a cardiac GC setting. This study measured the DSR generated at a private hospital following a cardiac GC appointment. A chart review identified patients seen by a cardiac GC between 2018 and 2022. The study population included patients and their pediatric relatives who had not previously seen a cardiologist. Patients were included if they were affected with or at-risk for long QT syndrome, hypertrophic cardiomyopathy, dilated cardiomyopathy, or familial thoracic aortic aneurysm at the time of the GC visit. We recorded the frequency of common cardiac services and calculated the reimbursement for all cardiology services for 1 year following the initial GC appointment. The cohort included 121 participants from 61 families. Most individuals were at-risk for (n = 114, 94.3%) rather than affected by an inherited cardiac condition and presented for screening. The total DSR was $247,592.27, with an annual median of $1819.50 per patient (IQR $0, $3761.33). Revenue was similar among individuals who had undergone genetic testing and those who had not. Among participants, 72 (59.5%) had subsequent cardiology services. Most frequently, a patient who presented for subsequent care had an EKG, an echocardiogram, and a cardiology appointment. While the economic contributions of GC services do not speak to the broader value of GC involvement in patient care, they are important metrics for sustainability. This study outlines an approach to evaluating DSR and establishes a baseline understanding of DSR related to cardiac GC services.
遗传咨询是儿科心脏护理的重要组成部分。这种护理的经济成本和效益在文献中尚未明确。下游收入（DSR）分析可用于评估遗传咨询师（GCs）在其机构中，超出初次患者接触之外的经济影响。以往文献报道了肿瘤学GCs产生的DSR，但尚无来自心脏GCs环境的已发表DSR数据。本研究测量了在一家私立医院进行心脏GC预约后产生的DSR。一项图表回顾确定了2018年至2022年间由心脏GC诊治的患者。研究人群包括患者及其以前未看过心脏病专家的儿科亲属。如果患者在GC就诊时患有长QT综合征、肥厚型心肌病、扩张型心肌病或家族性胸主动脉瘤，或有患这些疾病的风险，则将其纳入研究。我们记录了常见心脏服务的频率，并计算了初次GC预约后1年所有心脏病学服务的报销费用。该队列包括来自61个家庭的121名参与者。大多数个体有患遗传性心脏病的风险（n = 114，94.3%），而非受遗传性心脏病影响，前来进行筛查。DSR总额为247,592.27美元，每位患者的年度中位数为1819.50美元（四分位距0美元，3761.33美元）。接受基因检测和未接受基因检测的个体之间收入相似。在参与者中，72人（59.5%）随后接受了心脏病学服务。最常见的情况是，前来接受后续治疗的患者进行了心电图、超声心动图检查和心脏病学预约。虽然GC服务的经济贡献并不能说明GC参与患者护理的更广泛价值，但它们是可持续性的重要指标。本研究概述了一种评估DSR的方法，并建立了对与心脏GC服务相关的DSR的基线理解。
