Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.

Polygenic risk scores (PRS) are designed to serve as single summary measures that are easy to construct, condensing information from a large number of genetic variants associated with a disease. They have been used for stratification and prediction of disease risk. The primary focus of this paper is to demonstrate how we can combine PRS and electronic health records data to better understand the shared and unique genetic architecture and etiology of disease subtypes that may be both related and heterogeneous. PRS construction strategies often depend on the purpose of the study, the available data/summary estimates, and the underlying genetic architecture of a disease. We consider several choices for constructing a PRS using data obtained from various publicly-available sources including the UK Biobank and evaluate their abilities to predict not just the primary phenotype but also secondary phenotypes derived from electronic health records (EHR). This study was conducted using data from 30,702 unrelated, genotyped patients of recent European descent from the Michigan Genomics Initiative (MGI), a longitudinal biorepository effort within Michigan Medicine. We examine the three most common skin cancer subtypes in the USA: basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma. Using these PRS for various skin cancer subtypes, we conduct a phenome-wide association study (PheWAS) within the MGI data to evaluate PRS associations with secondary traits. PheWAS results are then replicated using population-based UK Biobank data and compared across various PRS construction methods. We develop an accompanying visual catalog called PRSweb that provides detailed PheWAS results and allows users to directly compare different PRS construction methods.

Colorectal cancer screening at community health centers: A survey of clinicians' attitudes, practices, and perceived barriers.

OBJECTIVE: Colorectal cancer (CRC) screening rates remain lower among some racial/ethnic groups and individuals with low income or educational attainment who are often cared for within community health centers (CHCs). We surveyed clinicians in a network of CHCs to understand their attitudes, practice patterns, and perceived barriers to CRC screening. METHODS: A clinician survey was conducted in 2013 within the Community Health Applied Research Network (CHARN). RESULTS: 180 clinicians completed the survey (47.9% response rate). Participants had an average of 11.5 (SD: 9.8) years in practice, 62% were female, and 57% were physicians. The majority of respondents somewhat agreed (30.2%) or strongly agreed (57.5%) that colonoscopy was the best screening test. However, only 15.8% of respondents strongly agreed and 32.2% somewhat agreed that colonoscopy was readily available for their patients. Fecal immunochemical testing (FIT), a type of fecal occult blood test (FOBT), was viewed less favorably; 24.6% rated FIT as very effective. CONCLUSIONS: Although there are no data showing that screening colonoscopy is superior to FIT, CHC clinicians believe colonoscopy is the best CRC screening test for their patients, despite the high prevalence of financial barriers to colonoscopy. These attitudes could be due to lack of knowledge about the evidence supporting long-term benefits of fecal occult blood testing (FOBT), lack of awareness about the improved test characteristics of FIT compared to older guaiac-based FOBT, or the absence of systems to ensure adherence to regular FOBT screening. Interventions to improve CRC screening at CHCs must address clinicians' negative attitudes towards FIT.

Program to improve colorectal cancer screening in a low-income, racially diverse population: a randomized controlled trial.

PURPOSE More effective strategies are needed to improve rates of colorectal cancer screening, particularly among the poor, racial and ethnic minorities, and individuals with limited English proficiency. We examined whether the direct mailing of fecal occult blood testing (FOBT) kits to patients overdue for such screening is an effective way to improve screening in this population. METHODS All adults aged 50 to 80 years who did not have documentation of being up to date with colorectal cancer screening as of December 31, 2009, and who had had at least 2 visits to the community health center in the prior 18 months were randomized to the outreach intervention or usual care. Patients in the outreach group were mailed a colorectal cancer fact sheet and FOBT kit. Patients in the usual care group could be referred for screening during usual clinician visits. The primary outcome was completion of colorectal cancer screening (by FOBT, sigmoidoscopy, or colonoscopy) 4 months after initiation of the outreach protocol. Outcome measures were compared using the Fisher exact test. RESULTS Analyses were based on 104 patients assigned to the outreach intervention and 98 patients assigned to usual care. In all, 30% of patients in the outreach group completed colorectal cancer screening during the study period, compared with 5% of patients in the usual care group (P <.001). Nearly all of the screenings were by FOBT. The groups did not differ significantly with respect to the percentage of patients making a clinician visit or the percentage for whom a clinician placed an order for a screening test. CONCLUSIONS The mailing of FOBT kits directly to patients was efficacious for promoting colorectal cancer screening among a population with high levels of poverty, limited English proficiency, and racial and ethnic diversity. Non-visit-based outreach to patients may be an important strategy to address suboptimal rates of colorectal cancer screening among populations most at risk for not being screened.

Developing ambulatory care physician performance measures.

Major US corporations and consumer groups are demanding more accountability for their health care expenditures. In response, the federal government, specialty boards, and state medical boards are evaluating ways to implement objective measures of quality. Many dermatologists already choose to participate in quality measurement and improvement activities. More will need to, as recertification and relicensure requirements change. Dermatologists need measures that are specialty-specific, as measures developed for primary care physicians are generally not appropriate for a dermatologic practice.