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BJGP:开发出评估个体心脏病风险的新型遗传检测手段

来源:生物谷 2014-05-04 09:01

2014年5月4日 讯 /生物谷BIOON/ --近日,刊登在国际杂志British Journal of General Practice上的一篇研究论文中,来自诺丁汉大学的研究人员通过研究揭示了病人对冠心病(CHD)遗传风险检测产生反应的机制。

冠心病是引发全球人类死亡的主要原因,而且其也是长期导致病人死亡的单一因素;当前医生们主要利用常规的心血管风险评估工具来对病人进行冠心病的风险评估,比如说对患者的一些风险因子,如血压、胆固醇水平、吸烟以及家族史等进行调查来评估患者患冠心病的风险。

文章中,研究人员引入了一种新型的冠心病遗传检测技术,研究者Qureshi教授说道,对冠心病风险进行相应遗传检测的主要原因是患者的家族史,而且通常对患者进行的检测结果也会反馈到其儿女那里;目前在柜台就有可进行遗传检测的工具,但是很多人并不明白检测结果所代表的意义。

这种新型的遗传检测手段可以帮助患者保持一种健康的生活方式,研究者表示,随着这种类型检测技术的不断推广,未来医生们也需要不断学习来理解检测结果的复杂性及其相关意义;针对心血管疾病的新型遗传检测方法对于有效评估个体患心血管疾病的风险以及为开发新型有效的干预手段提供了新的思路和希望。(生物谷Bioon.com)

Introducing genetic testing for cardiovascular disease in primary care: a qualitative study

Jo B Middlemass research fellow, MA, MPhil, PhD, Research assistant School of Health and Social Care, University of Lincoln, Lincoln. Momina F Yazdani, BMedSci, Medical student Division of Primary Care; University of Nottingham, Nottingham. Joe Kai, MD, FRCGP, Clinical professor of primary care Division of Primary Care; University of Nottingham, Nottingham. Penelope J Standen, BSc, PhD, Professor in health psychology and learning disabilities Division of Ageing and Rehabilitation, University of Nottingham, Nottingham. Nadeem Qureshi, DM, MRCGP, Clinical professor of primary care

Background 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. Aim To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD. Design and setting Qualitative interview study in 12 practices in Nottinghamshire from both urban and rural settings. Method Interviews were conducted with 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment. Results 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. Conclusion 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.

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