Howard Sharp Katianne M, Jurbergs Niki, Ouma Annastasia, Harrison Lynn, Gerhardt Elsie, Taylor Leslie, Hamilton Kayla, McGee Rose B, Nuccio Regina, Quinn Emily, Hines-Dowell Stacy, Kesserwan Chimene, Sunkara Anusha, Gattuso Jami S, Pritchard Michelle, Mandrell Belinda, Relling Mary V, Haidar Cyrine E, Kang Guolian, Johnson Liza M, Nichols Kim E
Department of Psychology, St. Jude Children's Research Hospital, Memphis TN, 38105.
Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis TN, 38105.
JCO Precis Oncol. 2020;4:202-211. doi: 10.1200/PO.19.00213. Epub 2020 Mar 24.
For the advances of pediatric oncology next generation sequencing (NGS) research to equitably benefit all children, a diverse and representative sample of participants is needed. However, little is known about demographic and clinical characteristics that differentiate families who decline enrollment in pediatric oncology NGS research.
Demographic and clinical data were retrospectively extracted for 363 pediatric oncology patients (0-21 years) approached for enrollment on Genomes for Kids (G4K), a study examining the feasibility of comprehensive clinical genomic analysis of tumors and paired normal samples. Demographic and clinical factors that significantly differentiated which families declined were subsequently compared to enrollment in Clinical Implementation of Pharmacogenetics (PG4KDS) for 348 families, a pharmacogenomics study with more explicit therapeutic benefit examining genes affecting drug responses and metabolism.
Fifty-three (14.6%) families declined enrollment in G4K. Race/ethnicity was the only variable that significantly differentiated study refusal using multivariate logistic regression, with families of black children more likely to decline enrollment compared to families of non-Hispanic or Hispanic white children. Reasons for declining G4K were generally consistent with other pediatric genomics research, with feeling overwhelmed and insurance discrimination fears most frequently cited. Families of black children were also more likely to decline enrollment in PG4KDS. Thirteen (3.7%) of the 348 families approached for both studies declined PG4KDS.
Race/ethnicity differentiated study declination across two different pediatric oncology genomics studies, suggesting enrollment disparities in the context of pediatric oncology genomics research. Genomics research participant samples that do not fully represent racial and ethnic minorities risk further exacerbating health disparities. Additional work is needed to understand the nuances of parental decision making in genomic research and facilitate enrollment of diverse patient populations.
为使儿科肿瘤学下一代测序（NGS）研究的进展公平地惠及所有儿童，需要多样化且具有代表性的参与者样本。然而，对于那些拒绝参与儿科肿瘤学NGS研究的家庭，其人口统计学和临床特征知之甚少。
回顾性提取了363名儿科肿瘤患者（0至21岁）的人口统计学和临床数据，这些患者被邀请参与“儿童基因组计划”（G4K），该研究旨在探讨对肿瘤及配对正常样本进行全面临床基因组分析的可行性。随后，将显著区分哪些家庭拒绝参与的人口统计学和临床因素，与348个家庭参与“药物基因组学临床应用研究”（PG4KDS）的情况进行比较，PG4KDS是一项药物基因组学研究，具有更明确的治疗益处，研究影响药物反应和代谢的基因。
53个（14.6%）家庭拒绝参与G4K。种族/族裔是使用多变量逻辑回归显著区分拒绝参与研究的唯一变量，与非西班牙裔或西班牙裔白人儿童的家庭相比，黑人儿童的家庭更有可能拒绝参与。拒绝参与G4K的原因通常与其他儿科基因组学研究一致，最常提及的是感到不知所措和担心保险歧视。黑人儿童的家庭也更有可能拒绝参与PG4KDS。在两项研究都被邀请参与的348个家庭中，有13个（3.7%）家庭拒绝参与PG4KDS。
种族/族裔在两项不同的儿科肿瘤学基因组学研究中区分了拒绝参与的情况，这表明在儿科肿瘤学基因组学研究中存在参与差异。不能充分代表种族和族裔少数群体的基因组学研究参与者样本，有可能进一步加剧健康差距。需要开展更多工作来了解父母在基因组研究中决策的细微差别，并促进不同患者群体的参与。
