Dataset Information

"Is it really worth it to get tested?": primary care patients' impressions of predictive SNP testing for colon cancer.

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.

SUBMITTER: Leventhal KG

PROVIDER: S-EPMC3567438 | biostudies-other | 2013 Feb

REPOSITORIES: biostudies-other

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"Is it really worth it to get tested?": primary care patients' impressions of predictive SNP testing for colon cancer.

Leventhal Kara-Grace KG Tuong William W Peshkin Beth N BN Salehizadeh Yasmin Y Fishman Mary B MB Eggly Susan S FitzGerald Kevin K Schwartz Marc D MD Graves Kristi D KD

Journal of genetic counseling 20120822 1

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 ...[more]

PMID: 22911325

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Project description:Interventions: The SCRIPT intervention is a ‘complex intervention’, that is, it contains several components. The main component is a polygenic risk score, with a post-test consultation (delivered face-to-face or via video call) to discuss the participant s personal risk with an associated risk reports for the participant and their GP. The reports are designed to alter screening and referral behaviours. Participants (recruited from general practice) will attend a consultation (face-to-face or via telephone/post), delivered by a trained researcher, during which their family history of colorectal cancer will be obtained, and brief pre-test counselling about the colorectal cancer polygenic risk score. This will include information about the test and its potential implications, including recommendations about colorectal cancer screening. A DNA sample will be obtained using the cheek swab at the first consultation. A polygenic risk score will be generated from the presence or absence of each of the 45 SNPs, using the relative risk of colorectal cancer for each DNA variant and also the individual’s family history of colorectal cancer. Applying Australian age-sex incidence data, a 10-year absolute risk of colorectal cancer will be calculated. Screening recommendations (faecal occult blood test (FOBT) or colonoscopy) will be generated in accordance with the 2017 NHMRC-endorsed national guidelines which are based on 10-year absolute risks of colorectal cancer. For those with a 10-year risk <1%, the would not require screening; for those with a 10-year risk >1% & <4%, they will be recommended FOBT screening; for those with a 10-year risk >4%, they will be recommended colonoscopic screening; however, no participant will be recommended less screening than the current NHMRC-endorsed n Primary outcome(s): To measure the effect of offering a polygenic risk score for colorectal cancer risk and tailored advice (i.e. the SCRIPT intervention) on risk-appropriate colorectal cancer screening (i.e. the right screening test, FOBT or colonoscopy, based on a person’s 10-year absolute risk of colorectal cancer) compared with generic cancer prevention information.[ 12 months post-recruitment. ] Study Design: Purpose: Prevention; Allocation: Randomised controlled trial; Masking: Blinded (masking used);Assignment: Parallel

Dataset Information

"Is it really worth it to get tested?": primary care patients' impressions of predictive SNP testing for colon cancer.

Publications

"Is it really worth it to get tested?": primary care patients' impressions of predictive SNP testing for colon cancer.

Similar Datasets

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