Rigter Tessel, Jansen Marleen E, de Groot Jordy M, Janssen Susan W J, Rodenburg Wendy, Cornel Martina C
Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, Netherlands.
Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, Netherlands.
Front Genet. 2020 Jan 31;11:10. doi: 10.3389/fgene.2020.00010. eCollection 2020.
Aberrant pharmacogenetic variants occur in a high proportion of people and might be relevant for the prescription of over 26 drugs in primary care. Early identification of patients who metabolize these drugs more rapidly or slowly than average could predict therapeutic effectivity and safety. Yet implementation of pharmacogenetics is progressing slowly. A high public health impact can potentially be achieved by increasing the proportion of people tested, when and where eligible according to clinical validity and utility.
In this study we defined actions, roles, and responsibilities for implementation of pharmacogenetics in primary care in consultation with stakeholder groups, by using a three-step mixed-methods approach. First, to define barriers and facilitators, public pharmacists (n = 24), primary care physicians (n = 8), and patients (n = 21) participated in focus groups and face-to-face interviews. Second, a multidisciplinary expert meeting (n = 16) was organized to define desired actions, roles, and responsibilities. Third, an online Delphi Study (n = 18) was conducted to prioritize the designated actions.
For the integration of pharmacogenetics in primary care guidelines and practice, lack of evidence for clinical utility was mentioned as a main barrier. Furthermore, reimbursement, and facilitation of data registration and sharing were considered as key elements for future routine application of pharmacogenetic testing. Moreover, the division of roles and responsibilities, especially between general practitioners and pharmacists, is currently perceived as unclear. Sixteen actions in these four areas (clinical utility, reimbursement, data registration and sharing, and roles and responsibilities) were formulated and assigned to specific actors during the expert meeting. After ranking these 16 actions in the Delphi Study, nine actions remained pertinent, covering the four areas with at least one action. However, participants showed low agreement on the prioritization of the different actions, illustrating their different perspectives and the need to attune between them.
Stakeholders together were able to formulate required actions to achieve true integration of pharmacogenetics in primary care, but no consensus could be achieved on the prioritization of the actions. Coordination of the current independent initiatives by the different stakeholders could facilitate effective and efficient implementation of useful pharmacogenetics in primary care.
异常的药物遗传学变异在很大一部分人群中出现，可能与基层医疗中超过26种药物的处方有关。尽早识别出那些代谢这些药物比平均水平快或慢的患者，能够预测治疗的有效性和安全性。然而，药物遗传学的实施进展缓慢。根据临床有效性和实用性，在合适的时间和地点增加接受检测的人群比例，有可能对公共卫生产生重大影响。
在本研究中，我们采用三步混合方法，与利益相关者群体协商，确定在基层医疗中实施药物遗传学的行动、角色和责任。首先，为了确定障碍和促进因素，公共药剂师（n = 24）、基层医疗医生（n = 8）和患者（n = 21）参与了焦点小组和面对面访谈。其次，组织了一次多学科专家会议（n = 16），以确定期望的行动、角色和责任。第三，开展了一项在线德尔菲研究（n = 18），对指定的行动进行优先级排序。
对于将药物遗传学纳入基层医疗指南和实践，缺乏临床实用性证据被提及为主要障碍。此外，报销以及数据登记和共享的便利化被视为药物遗传学检测未来常规应用的关键要素。此外，目前角色和责任的划分，尤其是全科医生和药剂师之间的划分，被认为不明确。在专家会议期间，针对这四个领域（临床实用性、报销、数据登记和共享以及角色和责任）制定了16项行动，并分配给了特定的行为主体。在德尔菲研究中对这16项行动进行排序后，9项行动仍然相关，涵盖这四个领域且每个领域至少有一项行动。然而，参与者对不同行动的优先级排序意见分歧较大，这表明了他们不同的观点以及相互协调的必要性。
利益相关者共同能够制定出实现药物遗传学在基层医疗真正整合所需的行动，但在行动的优先级排序上未能达成共识。不同利益相关者协调当前各自独立的举措，有助于在基层医疗中有效且高效地实施有用的药物遗传学。
