Delikurt Türem, Williamson Graham R, Anastasiadou Violetta, Skirton Heather
1] Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK [2] Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
Eur J Hum Genet. 2015 Jun;23(6):739-45. doi: 10.1038/ejhg.2014.180. Epub 2014 Sep 10.
Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted a systematic review of empirical evidence on this topic. Nine studies were included in the review. Barriers related to non-genetic healthcare professionals were: lack of awareness of patient risk factors, failure to obtain adequate family history, lack of knowledge of genetics and genetic conditions, lack of awareness of genetic services, inadequate coordination of referral and lack of genetics workforce. Those related to individuals affected by or at risk of a genetic condition were: lack of awareness of personal risk, lack of knowledge and/or awareness of medical history of family members and lack of knowledge of genetic services. Research on access to genetic services is heterogeneous; stronger empirical evidence is needed on factors that are barriers, and further research is needed to develop 'targeted interventions' for equitable access to genetic services in a range of populations.
可能从基因服务中受益的患者可能会因未被转诊而无法获得相关服务。为了调查转诊至基因服务的障碍方面的证据,我们对该主题的实证证据进行了系统综述。该综述纳入了9项研究。与非基因医疗专业人员相关的障碍包括:对患者风险因素缺乏认识、未获取充分的家族病史、缺乏遗传学和基因疾病知识、对基因服务缺乏认识、转诊协调不足以及基因专业人员短缺。与受基因疾病影响或有基因疾病风险的个体相关的障碍包括:对个人风险缺乏认识、对家庭成员病史缺乏知识和/或认识以及对基因服务缺乏了解。关于获得基因服务的研究具有异质性;需要更有力的实证证据来证明哪些因素是障碍,还需要进一步研究以制定“有针对性的干预措施”,以便在一系列人群中公平获得基因服务。