Saukko Paula M, Ellard Sian, Richards Suzanne H, Shepherd Maggie H, Campbell John L
ESRC-Centre for Genomics in Society, University of Exeter, UK.
BMC Health Serv Res. 2007 Jun 12;7:82. doi: 10.1186/1472-6963-7-82.
UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and understanding of the process of testing for common genetic susceptibilities in mainstream medicine.
Qualitative interviews with 42 individuals who had undergone testing for a genetic susceptibility for deep vein thrombosis in primary and secondary care in the UK.
Some participants, often from higher social classes, had a good understanding of the test and its implications. They had often sought additional information on thrombophilia from relatives and from the Internet. Others, often from less privileged backgrounds, had a poorer understanding of the test--seven individuals were unaware of having had the genetic test. Features of genetic information led to misunderstandings: (i) at referral, (ii) when communicating results, and (iii) when making sense of the implications of testing. Participants' accounts indicated that non-specialist doctors may feel obliged to refer a patient for a genetic test they know little about, because a patient requests it after a relative had tested positive. Sometimes a referral for a genetic test was lost under information overload when multiple tests and issues were considered. The inconsistent and informal ways of communicating test results--for example by phone--in mainstream medicine also led to confusion. Participants did not generally overestimate their risk, but some were uncertain about whether they were taking the right preventive actions and/or whether their children were at risk. Information about genetic susceptibilities was difficult to make sense of, as it related to ambiguous risks for participants and family members, complicated and unfamiliar terminology and multiple genes and preventive strategies.
Policy visions of clinicians and patients in mainstream medicine seeking and using genetic information at their own initiative may not be realistic. Patients need more direct support in making sense of genetic information, if this information is to bring the anticipated health benefits, and not fuel health inequalities or create ethical problems. Clinicians in secondary and primary care need guidance to help them introduce genetic tests, communicate their results and explain their implications.
英国和美国的政策倡议表明，未来主流医学中的患者和临床医生可以利用基因信息预防常见疾病。目前尚无关于患者在主流医学中对常见基因易感性检测过程的体验和理解的研究。
对42名在英国初级和二级医疗保健机构接受过深静脉血栓形成基因易感性检测的个体进行定性访谈。
一些参与者，通常来自较高社会阶层，对检测及其影响有很好的理解。他们经常从亲属和互联网上寻求关于血栓形成倾向的更多信息。其他参与者，通常来自较弱势背景，对检测的理解较差——7人不知道自己做过基因检测。基因信息的特点导致了误解：（i）在转诊时，（ii）在传达结果时，以及（iii）在理解检测的影响时。参与者的叙述表明，非专科医生可能会觉得有义务将患者转介进行他们知之甚少的基因检测，因为患者在亲属检测呈阳性后提出了要求。有时，当考虑多项检测和问题时，由于信息过载，基因检测的转诊会丢失。主流医学中通过电话等不一致和非正式的方式传达检测结果也导致了混乱。参与者一般没有高估自己的风险，但有些人不确定自己是否采取了正确的预防措施和/或他们的孩子是否有风险。关于基因易感性的信息很难理解，因为它与参与者和家庭成员的模糊风险、复杂和不熟悉的术语以及多个基因和预防策略有关。
主流医学中的临床医生和患者主动寻求和使用基因信息的政策愿景可能不现实。如果这些信息要带来预期的健康益处，而不是加剧健康不平等或引发伦理问题，患者在理解基因信息方面需要更多直接支持。初级和二级医疗保健机构的临床医生需要指导，以帮助他们引入基因检测、传达结果并解释其影响。
