Oster Emily, Dorsey E Ray, Bausch Jan, Shinaman Aileen, Kayson Elise, Oakes David, Shoulson Ira, Quaid Kimberly
Department of Economics, The University of Chicago, Chicago, Illinois, USA.
Am J Med Genet A. 2008 Aug 15;146A(16):2070-7. doi: 10.1002/ajmg.a.32422.
Genetic testing in Huntington disease, an inherited ultimately fatal neurodegenerative disorder, is infrequent despite wide availability. Factors influencing the decision to pursue testing are largely unknown. We conducted a prospective longitudinal observational study of 1,001 individuals in North America who were at risk for Huntington disease who had not pursued genetic testing prior to enrollment. We evaluated the rationale for remaining untested at baseline, determined the concerns of those who eventually pursued testing, and assessed the population's psychological attributes. We contrasted responses between those who did and did not pursue testing, and between United States and Canadian residents. The principal reasons for remaining untested were comfort with risk and uncertainty and the inability to "undo" knowledge gained. After enrollment, 83 individuals [8.3%] pursued genetic testing. Their greatest concern was losing health insurance, and 41.6% of them [vs. 6.7% of those who did not pursue testing; P < 0.001] reported paying out of pocket for testing or other medical services to conceal their genetic risk from their insurer/employer. Among individuals who were tested, more United States residents [46.1%] than Canadian residents [0.0%; P = 0.02] paid out of pocket for health services or genetic testing. Psychological attributes were similar among individuals who did and did not pursue testing. Individuals at risk for Huntington disease who pursued genetic testing feared losing medical insurance, and many paid out of pocket for medical services. Alleviating the fear of health insurance loss may help those who want to pursue genetic testing for many other conditions. [ClinicalTrials.gov number, NCT0052143].
亨廷顿病是一种遗传性的最终会致命的神经退行性疾病，尽管基因检测广泛可用，但实际进行检测的情况并不常见。影响人们决定是否进行检测的因素在很大程度上尚不清楚。我们对北美1001名有患亨廷顿病风险且在入组前未进行基因检测的个体进行了一项前瞻性纵向观察研究。我们评估了在基线时仍未进行检测的理由，确定了最终进行检测者的担忧，并评估了该人群的心理特征。我们对比了进行检测和未进行检测者之间的反应，以及美国和加拿大居民之间的反应。未进行检测的主要原因是对风险和不确定性感到安心，以及无法“消除”已获得的知识。入组后，83名个体（8.3%）进行了基因检测。他们最担心的是失去医疗保险，其中41.6%的人（未进行检测者为6.7%；P<0.001）报告为检测或其他医疗服务自掏腰包，以向保险公司/雇主隐瞒其遗传风险。在进行检测的个体中，自掏腰包支付医疗服务或基因检测费用的美国居民（46.1%）多于加拿大居民（0.0%；P = 0.02）。进行检测和未进行检测的个体在心理特征方面相似。有患亨廷顿病风险且进行基因检测的个体担心失去医疗保险，许多人自掏腰包支付医疗服务费用。减轻对失去医疗保险的恐惧可能有助于那些想针对许多其他疾病进行基因检测的人。[ClinicalTrials.gov编号，NCT0052143]
