Attitudes of Patients With Cancer About Personalized Medicine and Somatic Genetic Testing
Attitudes of Patients With Cancer About Personalized Medicine and Somatic Genetic Testing
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DOI：
10.1200/jop.2012.000626
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发表时间：
2012-11-01
影响因子：
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通讯作者：
Weeks, Jane C.
中科院分区：
文献类型：
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作者：
Gray, Stacy W.;Hicks-Courant, Katherine;Weeks, Jane C.
目的：基因组技术的巨大进步将彻底改变癌症治疗;然而，人们对患者对个性化医疗和广泛的基因检测（GT）的理解和接受程度知之甚少。我们进行了一项形成性、半结构化的访谈研究，随机抽取了肺、结肠直肠、和乳腺癌患者对个体化医疗和GT的认知以及对体细胞GT的态度。71%为女性; 42%是黑人;中位年龄为59岁; 42%的受教育程度>=大学。我们发现，大多数患者要么不知道“个性化医疗”一词，要么以意想不到的方式定义它。尽管许多患者确定了体细胞检测的相关益处（例如，告知治疗），但许多患者也表达了重大担忧（即，心理伤害和歧视）。大多数患者表示愿意接受体细胞（预测性，96%，预后性，93%）和种系（无偶然信息的癌症风险，87%;有偶然信息的癌症风险，81%;药物遗传学，91%）测试;然而，很少有患者表示愿意接受全基因组测序（62%）。不情愿被归因于关注偶然的发现，信息过载，缺乏明确的benefit.Conclusion：许多患者转述误解体细胞检测和不愿意接受完整的测序;肿瘤学家必须仔细考虑他们如何提出测试的患者，使歧视和心理伤害的担忧不妨碍测试摄取。需要更多的工作来确定有效的方法，将复杂的基因组概念传达给患者和研究参与者。
Purpose: Dramatic advances in genomic technology stand to revolutionize cancer care; however, little is known about patients' understanding and acceptance of personalized medicine and widespread genetic testing (GT).Patients and Methods: We conducted a formative, semi-structured interview study with a random sample of patients with lung, colorectal, and breast cancers to assess awareness of personalized medicine and GT and attitudes about somatic GT. Willingness to undergo GT was elicited through hypothetic scenarios.Results: Sixty-nine patients participated; 71% were women; 42% were black; median age was 59 years; and 42% had an education level >= college. We found that a majority of patients either were not aware of the term "personalized medicine" or defined it in unexpected ways. Although many patients identified relevant benefits of somatic testing (eg, informs treatment), many patients also expressed significant concerns (ie, psychological harm and discrimination). A majority of patients expressed a willingness to undergo somatic (predictive, 96%, prognostic, 93%) and germline (cancer risk without incidental information, 87%; cancer risk with incidental information, 81%; pharmacogenetic, 91%) testing; however, far fewer patients expressed a willingness to undergo full genome sequencing (62%). Reluctance was attributed to concerns over incidental findings, information overload, and the lack of a clear benefit.Conclusion: Many patients relayed misunderstandings about somatic testing and a reluctance to undergo full sequencing; oncologists must carefully consider how they present testing to patients so that concerns over discrimination and psychological harm do not hinder test uptake. More work is needed to identify effective ways to communicate complex genomic concepts to patients and research participants.