Harvard Medical School, Boston, MA, USA.
Mayo Clinic, Rochester, MN, USA.
J Prim Care Community Health. 2021 Jan-Dec;12:21501327211000242. doi: 10.1177/21501327211000242.
Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic screening to Latino patients receiving care at a community-based health center. We examined primary care provider (PCP) experiences reporting genomic screening results and integrating those results into patient care.
We conducted open-ended, semi-structured interviews with PCPs and other members of the health care team charged with supporting patients who received positive genomic screening results. Interviews were recorded, transcribed, and analyzed thematically.
Of the 500 patients who pursued genomic screening, 10 received results indicating a genetic variant that warranted clinical management. PCPs felt genomic screening was valuable to patients and their families, and that genomic research should strive to include underrepresented minorities. Providers identified multiple challenges integrating genomic sequencing into patient care, including difficulties maintaining patient contact over time; arranging follow-up medical care; and managing results in an environment with limited genetics expertise. Providers also reflected on the ethics of offering genomic sequencing to patients who may not be able to pursue diagnostic testing or follow-up care due to financial constraints.
Our results highlight the potential benefits and challenges of bringing advances in precision medicine to community-based health centers serving under-resourced populations. By proactively considering patient support needs, and identifying financial assistance programs and patient-referral mechanisms to support patients who may need specialized medical care, PCPs and other health care providers can help to ensure that precision medicine lives up to its full potential as a tool for improving patient care.
少数民族社区在获得基因组医学方面的进展方面受到限制。梅奥诊所和 Mountain Park 健康中心是亚利桑那州凤凰城的一家符合联邦资格的健康中心，它们合作评估向在社区健康中心接受治疗的拉丁裔患者提供基因组筛查的可行性。我们研究了初级保健提供者（PCP）报告基因组筛查结果并将这些结果整合到患者护理中的经验。
我们对 PCP 以及负责支持接受阳性基因组筛查结果的患者的医疗团队的其他成员进行了开放式、半结构化访谈。采访进行了录音、转录，并进行了主题分析。
在接受基因组筛查的 500 名患者中，有 10 名患者的结果表明存在需要临床管理的遗传变异。PCP 认为基因组筛查对患者及其家人有价值，并且基因组研究应该努力包括代表性不足的少数群体。提供者确定了将基因组测序整合到患者护理中的多个挑战，包括随着时间的推移难以保持与患者的联系；安排后续医疗护理；以及在遗传专业知识有限的环境中管理结果。提供者还反思了向可能由于财务限制而无法进行诊断测试或后续护理的患者提供基因组测序的伦理问题。
我们的结果强调了将精准医学的进展带给为资源不足的人群服务的社区健康中心的潜在益处和挑战。通过主动考虑患者的支持需求，并确定经济援助计划和患者转介机制，以支持可能需要专门医疗护理的患者，PCP 和其他医疗保健提供者可以帮助确保精准医学作为改善患者护理的工具充分发挥其潜力。
