Williams Elise G, Kessler Elena, Cooper Kristine L, Durst Andrea, Meade Julia
Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
J Genet Couns. 2025 Aug;34(4):e70075. doi: 10.1002/jgc4.70075.
The multi-gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated. We conducted a retrospective chart review of the UPMC Children's Hospital of Pittsburgh Cancer Predisposition Program's genetic testing results to evaluate how multigene panels for pediatric and young adult patients with cancer have changed in size and scope from 2018 to 2022. We find that multigene panels show a trend of growing larger in number of genes included over time and explore the utility of additional genetic testing after the initial round of multi-gene panel testing. We demonstrate heterogeneity between commercial genetic testing laboratories and their panels over time, signifying a need for equity among genetic testing panels and vigilance among physicians and genetic counselors ordering panel-based testing.
多基因检测组合是评估种系癌症易感性综合征时使用最广泛的基因检测方法。然而，商业多基因检测组合的变化率尚未得到很好的理解，其作为独立检测方法的价值也未得到研究。我们对匹兹堡大学医学中心儿童医院癌症易感性项目的基因检测结果进行了回顾性图表审查，以评估2018年至2022年期间针对患有癌症的儿科和年轻成年患者的多基因检测组合在规模和范围上发生了怎样的变化。我们发现，多基因检测组合呈现出随时间推移所包含基因数量不断增加的趋势，并探讨了在首轮多基因检测组合检测后进行额外基因检测的效用。我们证明了商业基因检测实验室及其检测组合随时间的异质性，这表明基因检测组合之间需要公平性，同时医生和订购基于检测组合的检测的遗传咨询师也需要保持警惕。
