Genetic and environmental risk assessment for cancer

这项试点研究的目的是建立方法，调查纳入基因检测到初级保健设置。虽然迄今为止的研究已经提供了关于为经典孟德尔遗传病提供基因检测的数据以及遗传咨询的相关问题，但它并没有解决基因检测利用的预期变化。更多的测试可能会在没有遗传咨询师支持的情况下在初级保健环境中进行。此外，这些测试可能会扩展到包括影响常见疾病风险的多态性，就像胆固醇影响心脏病风险一样。这项初步研究的数据将有助于设计一项在初级保健环境中采用基因检测进行风险评估的临床试验。需要进行此类临床试验，以评估在临床整合之前在初级保健环境中常规使用基因检测的安全性和有效性。 我们选择的模型是增加结直肠癌（CRC）风险的基因检测。已证实的筛查干预措施对平均风险人群中CRC的发展有影响。然而，对筛查建议的依从性通常很低。研究人群将包括50岁以上的成年患者，CRC筛查是标准的临床护理建议。患者将根据其MTHFR等位基因状态，血清叶酸水平和饮食史的信息进行遗传和环境风险评估（GERA），以提供更详细的CRC风险评估。建议所有患者进行CRC筛查，无论他们是否决定接受GERA或其GERA结果。 在试点研究中，60名成年人将在与杰斐逊医疗保健系统附属的初级保健医生的访问期间提供GERA。所有患者都将接受美国癌症协会推荐的CRC筛查策略的随访。通过态度和知识调查（一周，一个月和一年）和最后的图表审查，我们将确定是否将这种基因检测提高对CRC筛查临床建议的依从性。主要的结局指标是患者参与CRC筛查试验。

The objective of this pilot study is to establish methods to investigate the incorporation of genetic tests into the primary care setting. While research to date has provided data on the provision of genetic testing for classical Mendelian disorders and the associated issues for genetic counseling, it does not address the anticipated changes in the utilization of genetic tests. More testing likely will be done in the primary care setting without the support of genetic counselors. In addition, the tests are likely to be extended to include polymorphisms that influence risks of common diseases, just as cholesterol influences the risk for heart disease. The data from this pilot study will aid in the design of a clinical trial employing genetic tests for risk assessment in a primary care setting. Such clinical trials are needed to assess the safety and efficacy of the routine use of genetic testing in the primary care setting prior to their clinical integration. The model we have selected is genetic testing for increased risk of colorectal cancer (CRC). Established screening interventions are demonstrated to have an impact on the development of CRC in the average risk population. However, adherence to screening recommendations is generally low. The population to be studied will include adult patients over the age of 50, for whom CRC screening is a standard clinical care recommendation. Patients will be offered a genetic and environmental risk assessment(GERA) based on information about their MTHFR allele status, serum folate levels, and dietary history to provide a more detailed risk assessment for CRC. CRC screening will be recommended for all patients, regardless of whether they decide to have the GERA or their GERA results. In the pilot study, 60 adults will be offered the GERA during a visit with a primary care physician who is affiliated with the Jefferson Health Care System. All patients will be counseled to follow up with an American Cancer Society recommended CRC screening strategy. Through attitude and knowledge surveys (at one week, one month and one year) and a final chart review, we will determine whether incorporating such genetic testing improves adherence to clinical recommendations for CRC screening. The main outcome measure will be patient participation in a CRC screening test.