Grove Megan E, Wolpert Maya N, Cho Mildred K, Lee Sandra Soo-Jin, Ormond Kelly E
Department of Genetics, Stanford University, Stanford, CA, USA.
J Genet Couns. 2014 Aug;23(4):531-8. doi: 10.1007/s10897-013-9611-5. Epub 2013 Jun 2.
As exome and whole genome sequencing become clinically available, the potential to receive a large number of clinically relevant but incidental results is a significant challenge in the provision of genomic counseling. We conducted three focus groups of a total of 35 individuals who were members of ASHG and/or NSGC, assessing views towards the return of genomic results. Participants stressed that patient autonomy was primary. There was consensus that a mechanism to return results to the healthcare provider, rather than patient, and to streamline integration into the electronic health record would ensure these results had the maximal impact on patient management. All three focus groups agreed that pharmacogenomic results were reasonable to return and that they were not felt to be stigmatizing. With regard to the return of medically relevant results, there was much debate. Participants had difficulty in consistently assigning specific diseases to 'bins' that were considered obligatory versus optional for disclosure. Consensus was reached regarding the importance of informed consent and pretest counseling visits to clarify what the return of results process would entail. Evidence based professional guidelines should continue to be developed and regularly revised to assist in consistently and appropriately providing genomic results to patients.
随着外显子组测序和全基因组测序在临床上的应用，在提供基因组咨询时，面临着收到大量具有临床相关性但属于偶然发现结果的可能性这一重大挑战。我们对总共35名美国人类遗传学会（ASHG）和/或美国国家遗传咨询协会（NSGC）成员进行了三个焦点小组访谈，评估他们对返回基因组结果的看法。参与者强调患者自主权至关重要。大家达成共识，建立一种将结果返回给医疗服务提供者而非患者，并简化其整合到电子健康记录中的机制，将确保这些结果对患者管理产生最大影响。所有三个焦点小组都一致认为返回药物基因组学结果是合理的，且不认为这会带来污名化。关于返回医学相关结果，存在很多争议。参与者难以始终如一地将特定疾病归类到那些被认为是必须披露还是可选择披露的“类别”中。就知情同意和检测前咨询访视的重要性达成了共识，以阐明结果返回过程将涉及哪些内容。应继续制定并定期修订基于证据的专业指南，以协助持续、适当地向患者提供基因组结果。
