Leventhal Kara-Grace, Tuong William, Peshkin Beth N, Salehizadeh Yasmin, Fishman Mary B, Eggly Susan, FitzGerald Kevin, Schwartz Marc D, Graves Kristi D
Fisher Center for Familial Cancer Research, Lombardi Comprehensive Cancer Center, Georgetown University, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC 20007, USA.
J Genet Couns. 2013 Feb;22(1):138-51. doi: 10.1007/s10897-012-9530-x. Epub 2012 Aug 22.
Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients' ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants' interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined "SNP", and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75 %) were "very" or "somewhat interested" in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85 %) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.
尽管在过去十年中基因组学研究取得了重大进展，但我们距离将基因组学整合到常规临床护理中仍有好几年的时间。作为实施基于基因组的医学的第一步，我们探讨了初级保健患者对于常见复杂疾病进行基因组检测的想法，以帮助开发未来的患者教育材料和干预措施，用于传达基因组风险信息。我们对来自一家大型初级保健诊所的参与者进行了一项混合方法研究。在四个焦点小组中，我们使用了半结构化讨论指南，并在讨论前后进行了简短的定量调查，以评估参与者对检测及接收检测结果的兴趣、态度和偏好。在讨论之前，主持人用通俗易懂的语言解释了DNA和遗传学，定义了“SNP”，并强调了与结直肠癌风险相关的SNP检测风险方面已知和未知的情况。我们使用NVIVO 8软件包分析焦点小组讨论的文字记录。即使在了解并讨论了SNP所带来的风险虽小但临床上仍不确定的变化之后，大多数参与者（75%）对从结肠癌SNP检测中获取信息“非常”或“有些”感兴趣。报告的检测兴趣与所赋予的风险程度、个人风险因素、家族病史、对管理健康/疾病预防的可能影响以及对基因结果的好奇心有关。大多数人（85%）更喜欢由医疗保健或遗传学专业人员亲自提供遗传信息，而不是通过印刷材料或计算机。这些发现表明，患者可能会将遗传咨询师、医生或其他医疗保健专业人员视为预测性基因组风险信息的把关人。
