Are physicians prepared for whole genome sequencing? a qualitative analysis.

Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Data from 11 PCPs and 9 cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results.

A genotype risk score predicts type 2 diabetes from young adulthood: the CARDIA study.

AIMS/HYPOTHESIS: Genotype does not change over the life course and may thus facilitate earlier identification of individuals at high risk for type 2 diabetes. We hypothesised that a genotype score predicts incident type 2 diabetes from young adulthood and improves diabetes prediction models based on clinical risk factors alone. METHODS: The Coronary Artery Risk Development in Young Adults (CARDIA) study followed young adults (aged 18-30 years, mean age 25) serially into middle adulthood. We used Cox regression to build nested prediction models for incident type 2 diabetes based on clinical risk factors assessed in young adulthood (age, sex, race, parental history of diabetes, BMI, mean arterial pressure, fasting glucose, HDL-cholesterol and triacylglyercol), without and with a 38-variant genotype score. Models were compared with C statistics and continuous net reclassification improvement indices (NRI). RESULTS: Of 2,439 participants, 830 (34%) were black and 249 (10%) had a BMI ≥ 30 kg/m(2) at baseline. Over a mean 23.9 years of follow-up, 215 (8.8%) participants developed type 2 diabetes. The genotype score significantly predicted incident diabetes in all models, with an HR of 1.08 per risk allele (95% CI 1.04, 1.13) in the full model. The addition of the score to the full model modestly improved reclassification (continuous NRI 0.285; 95% CI 0.126, 0.433) but not discrimination (C statistics 0.824 and 0.829 in full models with and without score). Race-stratified analyses were similar. CONCLUSIONS/INTERPRETATION: Knowledge of genotype predicts type 2 diabetes over 25 years in white and black young adults but may not improve prediction over routine clinical measurements.

The Indian type 2 diabetes risk score also helps identify those at risk of macrovasvular disease and neuropathy (CURES-77).

AIMS: To see whether the diabetic individuals identified by the Indian Diabetes Risk Score (IDRS) also have a higher prevalence of diabetes related complications. METHODS: Type 2 diabetic subjects were selected from the Chennai Urban Rural Epidemiology Study in south India. Four field stereo retinal colour photography was done and diabetic retinopathy [DR] was classified according to Early Treatment Diabetic Retinopathy Study grading system. Coronary artery disease was diagnosed using Minnesota coding of 12-lead electrocardiograms. Diabetic peripheral neuropathy (DPN) was diagnosed if vibratory perception threshold [VPT] of the right great toe measured by biothesiometry was > or =20. The criterion for diagnosis of peripheral vascular disease (PVD) was an ankle-brachial index < 0.9. Macroalbuminuria was diagnosed if urinary albumin excretion was > or =300 microg/mg creatinine. A total of 1476 individuals who had information on all test parameters were included for analysis. RESULTS: Subjects with IDRS score > or =60 had significantly higher prevalence of coronary artery disease (CAD) [9.2% vs. 5.4%, p = 0.043], DPN [29.2% vs. 8.8%, p < 0.001] and PVD [4.8% vs. 1.9%, p = 0.038] compared to subjects with IDRS score <60. However, the prevalence of DR and macroalbuminuria did not differ between the two IDRS subgroups. Age explained much of the observed differences in prevalence of CAD, PVD and DPN between the two IDRS subgroups. CONCLUSIONS: This study further extends the clinical usefulness of IDRS to predicting diabetic complications like CAD, PVD and DPN as well.