Expanding data and resources for forensic use of SNPs in individual identification.

The potential value of SNPs for individual identification has been recognized by many researchers and different panels have been proposed. Here we present a new interface in the ALFRED database to access compendia of allele frequencies for several published panels of markers for forensic uses. One of those is our panel of individual identification SNPs (IISNPs) based on samples of 44 populations originating from many parts of the world. Here we also present additional data and additional statistical analyses that continue to support the value of our panel of IISNPs as a universal panel. We also describe initial developments of multiplex methods and various robustness analyses for our 45 marker IISNP panel.

Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel.

Using a 52 SNP marker set previously developed for forensic analysis, a novel 49plex assay has been developed based on the Genplex typing system, a modification of SNPlex chemistry (both Applied Biosystems) using oligo-ligation of pre-amplified DNA and dye-labeled, mobility modified detection probes. This gives highly predictable electrophoretic mobility of the allelic products generated from the assay to allow detection with standard capillary electrophoresis analyzers. The loci chosen comprise the 48 most informative autosomal SNPs from the SNPforID core discrimination set supplemented with the amelogenin gender marker. These SNPs are evenly distributed across all 22 autosomes, exhibit balanced polymorphisms in three major population groups and have been previously shown to be effective markers for forensic analysis. We tested the accuracy and reproducibility of the Genplex system in three SNPforID laboratories, each using a different Applied Biosystems Genetic Analyzer. Genotyping concordance was measured using replicates of 44 standardized DNA controls and by comparing genotypes for the same samples generated by the TaqMan, SNaPshot and Sequenom iPLEX SNP typing systems. The degree of informativeness of the 48 SNPs for forensic analysis was measured using previously estimated allele frequencies to derive the cumulative match probability and in paternity analysis using 24 trios previously typed with 18 STRs together with three CEPH families with extensive sibships typed with the 15 STRs in the Identifiler kit.

Experiences and expectations of the new genetics in relation to familial risk of breast cancer: a comparison of the views of GPs and practice nurses.

BACKGROUND: Advances in genetics may change the practice of medicine in many ways. Ascertaining practitioners' perceptions about managing the risk of familial breast cancer can give an insight into the current and expected impact on general practice to inform relevant education. Little is known about the practice nurses' (PNs) views of the new genetics in comparison with those of the GP. OBJECTIVES: Our aim was to describe and compare the views of GPs and PNs on their experiences and expectations of the new genetics in relation to managing familial risk of breast cancer. METHOD: A questionnaire, assessing views on the current and future impact of genetic advances in general and on the management of women with a familial risk of breast cancer, was sent to all GPs and PNs in the 66 practices of the Cambridge and Huntingdon Health Authority. RESULTS: There was a 69% response rate. The words 'cautious', 'mixed feelings', 'hopeful' and 'optimistic' were used most frequently in response to views on genetic advances, but PNs chose more positive words than GPs (P < 0.001). PNs were also more optimistic than GPs in relation to the future positive impact of genetics on practice (P < 0.0001). Sixty-one per cent of GPs and 45% of PNs agreed that genetic advances in relation to breast cancer were already affecting their work. A minority of practitioners had attended recent educational events in risk assessment for breast cancer, and only 8% of GPs reported a practice policy on familial breast cancer risk management. CONCLUSIONS: GPs and PNs show a cautious optimism in relation to advances in genetics, with PNs most optimistic. Many perceive that genetic advances in relation to breast cancer are already affecting their workloads, yet educational attendance and practice policies are lacking. Given PN involvement, multi-professional education may be appropriate. Education about risk management, including family history and genetics, might be better integrated into more general teaching on the prevention and management of breast cancer, than taught alone.

Perceived stress and coronary heart disease risk factors: the contribution of socio-economic position.

OBJECTIVES: The aim of this study was to explore the relationship between risk factors for coronary heart disease (CHD) and perceived stress, adjusted for socio-economic position. DESIGN: Cross-sectional analysis of CHD risk factors, perceived stress and socio-economic position. METHOD: A cohort of employed Scottish men (N = 5848) and women (N = 984) completed a questionnaire and attended a physical examination. RESULTS: Higher socio-economic groups registered higher perceived stress scores. Perceived stress was associated with the following CHD risk factors in the expected direction: high plasma cholesterol, little recreational exercise, cigarette smoking, and high alcohol consumption. Contrary to expectations, stress was related negatively to high diastolic blood pressure, body mass index (BMI) and low forced expiratory volume. Correction for socio-economic position tended to abolish the associations between stress and physiological risk factors; the associations between stress and behavioural risk factors withstood such correction. The residual patterns of associations between perceived stress and CHD risk were broadly similar for men and women. A lower BMI, a greater number of cigarettes smoked, and greater alcohol consumption were associated with higher levels of perceived stress for both sexes. Lower levels of recreational exercise were associated with higher levels of stress for men only. CONCLUSIONS: Self-reported stress is related to health-related behaviours and to physiological CHD risk factors. The direction of the association with physiological risk was often contrary to expectation and appeared to be largely due to confounding by socio-economic position. In contrast, the association with health-related behaviours was in the expected direction and was largely independent of such confounding.