Vos Joël, Menko Fred H, Oosterwijk Jan C, van Asperen Christi J, Stiggelbout Anne M, Tibben Aad
Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Psychooncology. 2013 May;22(5):1167-76. doi: 10.1002/pon.3125. Epub 2012 Jul 9.
Many cancer-patients undergo DNA testing in the BRCA1/2 genes to receive information about the likelihood that cancer is heritable. Previous nonsystematic studies suggested that DNA testing often does not fulfill the counselees' needs for certainty. We explored the balance between the counselees' need for certainty and perceived certainty (NfC-PC, i.e., level of fulfillment of NfC) regarding the specific domains of DNA test result, heredity and cancer. We also examined relationships of NfC-PC with coping styles and distress.
Before disclosure of BRCA1/2 test results for hereditary breast/ovarian cancer (T1), questionnaires were filled in by 467 cancer-patients. Another questionnaire (T2) was filled in after disclosure of pathogenic mutation results (n = 30), uninformative results (n = 202) or unclassified-variants (n = 16).
Before and after DNA test result disclosure, overall 58-94% of all counselees experienced unfulfilled NfC regarding the DNA test result, heredity and cancer. Compared with T1, the communication of pathogenic mutations (T2) caused more fulfillment of the NfC about the DNA test result, but less about cancer and heredity (p < .01). Compared with T1, unclassified variants (T2) did not significantly change the extent of fulfillment of all counselees' needs for certainty (NfC > PC). Compared with T1, uninformative results (T2) caused more fulfillments of all needs than before disclosure (p < 0.01). Counselees differentiated NfC and PC between the domains of DNA-test result, heredity and cancer (p < 0.01). The unfulfilled needs for certainty (NfC-PC) were uncorrelated with cognitive understanding of the DNA test result.
The counselees' NfC needs more attention in research and practice, for example, when the potential uncertainties of testing are discussed. The counselees' NfC may be assessed and used in tailored, mutual communication of DNA test results.
许多癌症患者会进行BRCA1/2基因的DNA检测，以获取癌症是否具有遗传性的相关信息。以往的非系统性研究表明，DNA检测往往无法满足咨询者对确定性的需求。我们探讨了咨询者对确定性的需求与对DNA检测结果、遗传和癌症等特定领域的感知确定性（NfC - PC，即NfC的满足程度）之间的平衡。我们还研究了NfC - PC与应对方式和痛苦程度之间的关系。
在披露遗传性乳腺癌/卵巢癌的BRCA1/2检测结果（T1）之前，467名癌症患者填写了问卷。在披露致病突变结果（n = 30）、无信息结果（n = 202）或未分类变异结果（n = 16）之后，他们又填写了另一份问卷（T2）。
在DNA检测结果披露前后，总体上58% - 94%的咨询者在DNA检测结果、遗传和癌症方面的NfC未得到满足。与T1相比，致病突变结果的告知（T2）使咨询者对DNA检测结果的NfC满足程度更高，但对癌症和遗传的满足程度更低（p <.01）。与T1相比，未分类变异结果（T2）并未显著改变所有咨询者对确定性需求的满足程度（NfC > PC）。与T1相比，无信息结果（T2）使所有需求的满足程度比披露前更高（p < 0.01）。咨询者在DNA检测结果、遗传和癌症领域对NfC和PC进行了区分（p < 0.01）。对确定性的未满足需求（NfC - PC）与对DNA检测结果的认知理解无关。
咨询者的NfC在研究和实践中需要更多关注，例如在讨论检测潜在不确定性时。咨询者的NfC可用于评估并在DNA检测结果的个性化、相互沟通中加以利用。
