Katsanis Sara Huston, Minear Mollie A, Vorderstrasse Allison, Yang Nancy, Reeves Jason W, Rakhra-Burris Tejinder, Cook-Deegan Robert, Ginsburg Geoffrey S, Simmons Leigh Ann
Center for Applied Genomics and Precision Medicine, Duke University School of Medicine and Health System, Durham, NC 27708, USA.
Duke Science and Society, Duke University, Durham, NC 27708, USA.
J Pers Med. 2015 Apr 3;5(2):67-82. doi: 10.3390/jpm5020067.
In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice.
We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers' use of genetic and genomic testing options and indications in clinical practice, providers' awareness of pharmacogenetic applications, and providers' opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.
在这个个性化医疗的时代，基因和基因组检测有望在医疗保健服务中发挥重要作用，但对于其在临床实践中的实际应用情况却知之甚少。
我们对杜克大学的教职员工和医疗服务提供者进行了调查，以考察基因和基因组检测的采用程度。我们评估了医疗服务提供者在临床实践中对基因和基因组检测选项及指征的使用情况、对药物遗传学应用的认知程度，以及他们对将研究产生的基因检测结果反馈给参与者的看法。大多数临床医生受访者目前在临床实践中常规使用家族病史，但只有18%的临床医生使用药物遗传学。只有两名受访者正确识别出带有药物遗传学指征的药品说明书数量。我们还发现，大家强烈支持将基因研究结果反馈给参与者。我们的结果表明，虽然杜克大学的医疗服务提供者对基因组技术充满热情，但研究之外的基因组工具使用有限。受访者赞成将基于研究的基因结果反馈给参与者，但临床医生缺乏对药物遗传学应用的了解。我们确定了该机构在将基因和基因组检测应用于患者护理时面临的挑战，这些挑战应为改善医疗服务提供者支持和临床医生与研究人员合作关系的政策及教育议程提供参考。
