Genetic and environmental risk assessment for cancer

这项初步研究的目的是建立方法，以调查将基因测试纳入初级保健环境的情况。虽然到目前为止的研究已经提供了关于为经典孟德尔病症提供基因检测以及遗传咨询的相关问题的数据，但它没有解决基因检测利用方面的预期变化。在没有遗传咨询师支持的情况下，可能会在初级保健环境中进行更多的测试。此外，这些测试可能会扩大到包括影响常见疾病风险的基因多态，就像胆固醇影响心脏病风险一样。这项先导性研究的数据将有助于设计一项临床试验，在初级保健环境中使用基因测试进行风险评估。在临床整合之前，需要这样的临床试验来评估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)风险的基因测试。已建立的筛查干预措施被证明对平均风险人群中结直肠癌的发展有影响。然而，对筛查建议的遵守程度普遍较低。被研究的人群将包括50岁以上的成年患者，对他们来说，结直肠癌筛查是一种标准的临床护理建议。患者将接受基于他们的MTHFR等位基因状态、血清叶酸水平和饮食历史的遗传和环境风险评估(GERA)，以提供更详细的结直肠癌风险评估。将建议对所有患者进行CRC筛查，无论他们决定是GERA还是他们的GERA结果。 在这项试点研究中，60名成年人将在拜访隶属于杰斐逊医疗保健系统的初级保健医生时获得GERA。所有患者都将接受咨询，按照美国癌症协会推荐的CRC筛查策略进行后续治疗。通过态度和知识调查(一周、一个月和一年)和最终图表审查，我们将确定纳入此类基因测试是否有助于提高对结直肠癌筛查临床建议的遵守程度。主要的结果衡量标准将是患者参加CRC筛查测试的情况。

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.