Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
JAMA Netw Open. 2023 May 1;6(5):e2314829. doi: 10.1001/jamanetworkopen.2023.14829.
Vascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistical barriers to obtaining genetic testing in patients with VM may constrain treatment options.
To examine the institutional mechanisms for and obstacles to obtaining genetic testing for VM.
DESIGN, SETTING, AND PARTICIPANTS: This survey study invited members of the Pediatric Hematology-Oncology Vascular Anomalies Interest Group, representing 81 vascular anomaly centers (VACs) serving individuals up to 18 years of age, to complete an electronic survey. Respondents were mostly pediatric hematologists-oncologists (PHOs) but included geneticists, genetic counselors, clinic administrators, and nurse practitioners. Responses that were received between March 1 and September 30, 2022, were analyzed with descriptive methods. Requirements for genetic testing by several genetics laboratories were also reviewed. Results were stratified by size of the VAC.
Vascular anomaly center and associated clinician characteristics and practice patterns for ordering and obtaining insurance approval for genetic testing for VMs were collected.
Responses were received from 55 of 81 clinicians, for a response rate of 67.9%. Most respondents were PHOs (50 [90.9%]). Most respondents (32 of 55 respondents [58.2%]) replied that they order genetic testing on 5 to 50 patients per year and reported a genetic testing volume increase of 2- to 10-fold over the past 3 years (38 of 53 respondents [71.7%]). Most testing was ordered by PHOs (35 of 53 respondents [66.0%]), followed by geneticists (28 [52.8%]) and genetic counselors (24 [45.3%]). In-house clinical testing was more common at large and medium-sized VACs. Small VACs were more likely to use oncology-based platforms, which potentially miss low-frequency allelic variants in VM. Logistics and barriers varied by size of the VAC. Obtaining prior authorization was the duty shared among PHOs, nurses, and administrative staff, but the burden of insurance denials and appeals were on PHOs (35 of 53 respondents [66.0%]). Lack of administrative support; unclear institutional, insurance, and laboratory requirements; and lack of clinician education were barriers to genetic testing at VACs of all sizes. The effort to obtain genetic testing for patients with VM, compared with patients with cancer, was perceived as excessive, despite genetic testing being considered standard of care for this population.
Results of this survey study showed the barriers to genetic testing for VM across VACs, described differences between VACs based on size, and proposed multiple interventions to support clinicians ordering genetic testing for VM. The results and recommendations should have broader application to clinicians caring for patients for whom molecular diagnosis is important to medical management.
血管畸形（VM）是一种罕见的血管发生发育障碍性疾病，与大量发病率相关。对其遗传基础的深入了解越来越有助于指导治疗，但在 VM 患者中获得基因检测的后勤障碍可能会限制治疗选择。
检查获得 VM 基因检测的机构机制和障碍。
设计、地点和参与者：这项调查研究邀请了儿科血液肿瘤血管异常兴趣小组的成员，代表了 81 个血管异常中心（VAC），为 18 岁以下的个体提供服务，完成了一项电子调查。受访者主要是儿科血液肿瘤学家（PHO），但也包括遗传学家、遗传咨询师、诊所管理人员和执业护士。2022 年 3 月 1 日至 9 月 30 日期间收到的回复采用描述性方法进行了分析。还审查了几家基因实验室的基因检测要求。结果按 VAC 的大小进行分层。
收集了 VAC 及其相关临床医生的特征以及用于订购和获得 VM 基因检测保险批准的实践模式。
从 81 名临床医生中收到了 55 名的回复，回复率为 67.9%。大多数受访者是 PHO（50[90.9%]）。大多数受访者（55 名受访者中的 32 名[58.2%]）表示他们每年为 5 至 50 名患者开具基因检测，并且在过去 3 年中检测量增加了 2 到 10 倍（53 名受访者中的 38 名[71.7%]）。大多数检测是由 PHO（53 名受访者中的 35 名[66.0%]）开具的，其次是遗传学家（28 名[52.8%]）和遗传咨询师（24 名[45.3%]）。在大型和中型 VAC 中，内部临床检测更为常见。小型 VAC 更有可能使用基于肿瘤学的平台，这可能会错过 VM 中的低频等位基因变异。物流和障碍因 VAC 的大小而异。获得事先授权是 PHO、护士和行政人员共同承担的职责，但保险拒付和上诉的负担却落在 PHO 身上（53 名受访者中的 35 名[66.0%]）。缺乏行政支持；机构、保险和实验室要求不明确；以及缺乏临床医生教育，这些都是所有规模 VAC 进行基因检测的障碍。尽管基因检测被认为是该人群的标准治疗方法，但与癌症患者相比，为 VM 患者进行基因检测的努力被认为是过度的。
这项调查研究的结果显示了 VAC 中 VM 基因检测的障碍，描述了基于大小的 VAC 之间的差异，并提出了多项干预措施来支持临床医生为 VM 患者开具基因检测。结果和建议应该更广泛地适用于为需要分子诊断来进行医疗管理的患者提供护理的临床医生。
