A randomized trial of genetic and environmental risk assessment (GERA) for colorectal cancer risk in primary care: Trial design and baseline findings

Division of Population Science, Department of Medical Oncology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Contemporary clinical trials (Impact Factor: 1.94). 01/2011; 32(1):25-31. DOI: 10.1016/j.cct.2010.08.013
Source: PubMed


This paper describes an ongoing randomized controlled trial designed to assess the impact of genetic and environmental risk assessment (GERA) on colorectal cancer (CRC) screening.
The trial includes asymptomatic patients who are 50-79years and are not up-to-date with CRC screening guidelines. Patients who responded to a baseline telephone survey are randomized to a GERA or Control group. GERA group participants meet with a nurse, decide whether to have a GERA blood test (a combination of genetic polymorphism and folate), and, if tested, receive GERA feedback. Follow-up telephone surveys are conducted at 1 and 6months. A chart audit is performed at 6months.
Of 2,223 eligible patients, 562 (25%) have enrolled. Patients who enrolled in the study were significantly younger than those who did not (p<0.001). Participants tended to be 50-59years (64%), female (58%), white (52%), married (51%), and have more than a high school education (67%). At baseline, most participants had some knowledge of CRC screening and GERA, viewed CRC screening favorably, and reported that they had decided to do screening. Almost half had worries and concerns about CRC.
One in four eligible primary care patients enrolled in the study. Age was negatively associated with enrollment. Prospective analyses using data for all participants will provide more definitive information on GERA uptake and the impact of GERA feedback.

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    ABSTRACT: Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients' ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants' interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined "SNP", and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75 %) were "very" or "somewhat interested" in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85 %) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.
    Journal of Genetic Counseling 08/2012; 22(1). DOI:10.1007/s10897-012-9530-x · 2.24 Impact Factor
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    ABSTRACT: Background In an ongoing clinical trial, the genetic and environmental risk assessment (GERA) blood test offers subjects information about personal colorectal cancer risk through measurement of two novel low-to-moderate risk factors. We sought to examine predictors of uptake of the GERA blood test among participants randomized to the Intervention arm. Methods Primary care patients aged 50 to 74 years eligible for colorectal cancer screening are randomized to receive a mailed stool blood test kit to complete at home (Control) or to the control condition plus an in-office blood test called GERA that includes assessment of red blood cell folate and DNA-testing for two MTHFR (methylenetetrahydrofolate reductase) single nucleotide polymorphisms (SNPs) (Intervention). For the present study, baseline survey data are examined in participants randomized to the Intervention. Results The first 351 intervention participants (161 African American/190 white) were identified. Overall, 249 (70.9%) completed GERA testing. Predictors of GERA uptake included race (African American race, odds ratio (OR) 0.51 (0.29 to 0.87)), and being more knowledgeable about GERA and colorectal cancer screening (OR 1.09 (1.01 to 1.18)). Being married (OR 1.81 (1.09 to 3.00)) was also significant in the multivariable model. Conclusions Participant uptake of GERA testing was high. GERA uptake varied, however, according to socio-demographic background and knowledge.
    Genome Medicine 11/2012; 4(11):92. DOI:10.1186/gm393 · 5.34 Impact Factor
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    ABSTRACT: Results: Overall screening rates for CRC did not statistically significantly differ between the usual care (35.7%) and GERA (33.1%) groups. After adjustment for baseline participant factors, the odds ratio for screening completion for GERA versus usual care was 0.88 (95% CI, 0.64 to 1.22). Within the GERA group, screening rates did not significantly differ between average-risk (38.1%) and elevated-risk (26.9%) participants. Odds ratios for elevated- versus average-risk participants remained nonsignificant after adjustment for covariates (odds ratio, 0.75 [CI, 0.39 to 1.42]). Limitation: Only 1 personalized genetic and environmental interaction and 1 health behavior (CRC screening) were assessed.
    Annals of internal medicine 10/2014; 161(8):537-545. DOI:10.7326/M14-0765 · 17.81 Impact Factor
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