Genetic and environmental risk assessment for cancer

这项初步研究的目的是建立方法来调查将基因检测纳入初级保健机构。虽然迄今为止的研究已经提供了关于经典孟德尔疾病的基因检测和遗传咨询相关问题的数据，但它并没有解决基因检测利用的预期变化。在没有遗传咨询师支持的情况下，更多的检测可能会在初级保健机构进行。此外，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。在临床整合之前，需要进行此类临床试验，以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。

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.