Middlemass Jo B, Yazdani Momina F, Kai Joe, Standen Penelope J, Qureshi Nadeem
School of Health and Social Care, University of Lincoln, Lincoln.
Br J Gen Pract. 2014 May;64(622):e282-9. doi: 10.3399/bjgp14X679714.
While primary care systematically offers conventional cardiovascular risk assessment, genetic tests for coronary heart disease (CHD) are increasingly commercially available to patients. It is unclear how individuals may respond to these new sources of risk information.
To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD.
Qualitative interview study in 12 practices in Nottinghamshire from both urban and rural settings.
Interviews were conducted with 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment.
Individuals' principal motivation for genetic testing was their family history of CHD and a desire to convey the results to their children. After testing, however, there was limited recall of genetic test results and scepticism about the value of informing their children. Participants dealt with conflicting findings from the genetic test, family history, and conventional assessment by either focusing on genetic risk or environmental lifestyle factors. In some participants, genetic test results appeared to reinforce healthy behaviour but others were falsely reassured, despite having an 'above-average' conventional cardiovascular risk score.
Although genetic testing was acceptable, participants were unclear how to interpret genetic risk results. To facilitate healthy behaviour, health professionals should explore patients' understanding of genetic test results in light of their family history and conventional risk assessment.
虽然初级保健系统地提供传统的心血管风险评估,但冠心病(CHD)基因检测在商业上越来越多地提供给患者。目前尚不清楚个人对这些新的风险信息来源会作何反应。
探讨近期接受过传统心血管风险评估的患者如何看待冠心病基因检测提供的额外信息。
在诺丁汉郡城乡的12家医疗机构开展的定性访谈研究。
对29名成年人进行访谈,这些人在接受传统心血管风险评估后同意进行基因检测。
个人进行基因检测的主要动机是其冠心病家族史以及希望将检测结果告知子女。然而,检测后,对基因检测结果的记忆有限,并且对告知子女检测结果的价值持怀疑态度。参与者通过关注基因风险或环境生活方式因素来处理基因检测、家族史和传统评估结果之间的矛盾。在一些参与者中,基因检测结果似乎强化了健康行为,但另一些人尽管传统心血管风险评分“高于平均水平”,却得到了错误的安心。
虽然基因检测是可以接受的,但参与者不清楚如何解读基因风险结果。为促进健康行为,卫生专业人员应根据患者的家族史和传统风险评估,探讨患者对基因检测结果的理解。