Underhill Meghan L, Blonquist Traci M, Habin Karleen, Lundquist Debra, Shannon Kristen, Robinson Kathryn, Woodford Mary-Lou, Boucher Jean
Dana-Farber Cancer Institute, 450 Brookline Ave LW522, Boston, Massachusetts, 02115.
Massachusetts General Hospital, Boston, MA, USA.
Cancer Med. 2017 Jul;6(7):1837-1844. doi: 10.1002/cam4.1100. Epub 2017 May 29.
Genetic testing for cancer susceptibility has been widely studied and utilized clinically. Access to genetic services in research and practice is largely limited to well-insured, Caucasian individuals. In 2009, the Cancer Resource Foundation (CRF) implemented the Genetic Information for Treatment Surveillance and Support (GIFTSS) program to cover the out-of-pocket expenses associated with cancer genetic testing, targeting high-risk individuals with limited financial means and limited health insurance coverage. Here, we (i) describe the characteristics of participants in the Massachusetts (MA) GIFTSS program and (ii) evaluate mutations found in this diverse sample. A secondary retrospective data analysis was performed using de-identified demographic data obtained from laboratory requisition forms and cancer genetic testing result information from the laboratory source. Eligible participants were those who utilized the MA GIFFTS program from 2009 through December of 2014. Data were summarized using descriptive measures of central tendency. Participants were residents of Massachusetts who had health insurance and had a reported income within 250-400% of the federal poverty level. Genetic testing results were categorized following clinical guidelines. Overall, 123 (13%) of participants tested positive for a mutation in a cancer susceptibility gene. For those with a cancer diagnosis, 65 (12%) were found to have a positive result and 20 (7%) had a variant of uncertain significance (VUS). For those unaffected patients, 58 (15%) had a positive result and 10 (3%) were found to have a VUS. The results from this study are useful in describing genetic testing outcomes in this high-risk underserved community. Repeatedly, the literature reports that individuals from diverse or limited resource settings are less likely to access genetic testing. Continued research efforts should be devoted to promoting the access of genetic testing in the high-risk, underserved community.
癌症易感性的基因检测已得到广泛研究并在临床中得到应用。在研究和实践中，获得基因检测服务的人群主要局限于拥有良好保险的白种人。2009年，癌症资源基金会（CRF）实施了治疗监测与支持基因信息（GIFTSS）项目，以支付与癌症基因检测相关的自付费用，目标人群是经济能力有限且医疗保险覆盖范围有限的高危个体。在此，我们（i）描述了马萨诸塞州（MA）GIFTSS项目参与者的特征，（ii）评估了在这个多样化样本中发现的突变。使用从实验室申请表中获取的去识别化人口统计学数据和来自实验室的癌症基因检测结果信息进行了二次回顾性数据分析。符合条件的参与者是那些在2009年至2014年12月期间使用MA GIFFTS项目的人。数据使用集中趋势的描述性指标进行汇总。参与者是马萨诸塞州的居民，他们拥有医疗保险，报告收入在联邦贫困线的250 - 400%之间。基因检测结果按照临床指南进行分类。总体而言，123名（13%）参与者的癌症易感基因检测呈阳性。对于那些被诊断患有癌症的人，65名（12%）检测结果为阳性，20名（7%）有意义未明的变异（VUS）。对于那些未受影响的患者，58名（15%）检测结果为阳性，10名（3%）有VUS。这项研究的结果有助于描述这个高危且服务不足社区的基因检测结果。文献反复报道，来自不同或资源有限环境的个体获得基因检测的可能性较小。应持续投入研究努力，以促进高危且服务不足社区获得基因检测。
