Secondary uses of clinical data in primary care

This paper, presented as a panel at the American Medical Informatics Association (AMIA) Fall Symposium 2006, explores a number of secondary uses of primary care clinical data derived from point-of-care systems, and the issues arising from those uses. The authors (from the USA and the UK) describe, compare and contrast some secondary uses: pay-for-performance, public disclosure, clinical audit, health resource planning, and clinical system usage; in various environments: national health system, network of small family practice offices, and university teaching centres. In the UK, such data are now being used in pay-for-performance for GPs, and approximately 35% of their salary has been put at risk, which has resulted in close scrutiny. In the USA, pay-for-performance is at an earlier stage but is increasingly prevalent and continues to be hotly debated. Some of the issues that arise from these uses of clinical data - data quality including accuracy, comparability, perverse incentives, effect of secondary uses on care provision, and security and confidentiality among others - were discussed. Finally, options and opportunities for improving secondary uses of data in the light of the issues covered earlier were considered.     

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

High numbers of melanocytic naevi (moles), and mutations in the p16 gene (CDKN2A), are two strong risk factors for cutaneous malignant melanoma. We have previously reported linkage of mole count to the CDKN2A locus. Here, we report genome-wide scans for mole counts (differentiated into flat, raised and atypical subtypes) with a total of 796 microsatellite markers for 424 families with 1024 twins and siblings, plus genotypes for 690 parents. Inclusion of 221 pairs of MZ twins enabled separation of shared environmental and polygenic influences, so placing an upper limit to estimates of QTL variance. Maximum likelihood multipoint variance component methods were used to assess linkage of naevus count. Sex, age, body surface area, skin colour, hair colour, sunburn and facial freckles were included as covariates. Peak linkage of flat mole count was to regions on chromosomes 2, 9, 8 and 17 with lod scores 2.95, 2.95, 2.50 and 2.15, respectively. The support for linkage to the CDKN2A gene region (9p21) increased to 3.42 when additional fine mapping markers were added. For raised mole count, there was suggestive evidence of linkage in our sample to chromosome 16 (lod=1.87), and for atypical mole count on chromosomes 1, 6 and X with lod scores of 2.20, 2.00 and 2.00, respectively. The multivariate linkage peaks generally match those from individual trait analyses, with the exception of a new peak on chromosome 4 (point-wise empirical P-value=0.001). We replicate our earlier finding of linkage to CDKN2A and discovering linkage to several novel regions that may also influence risk of the development of malignant melanoma.     

Genetics of clinical expression in SLE

Systemic lupus erythematosus (SLE) is the prototype of complex autoimmune diseases and is characterized by extreme breakdown of self-tolerance which results in a wide range of immunologic abnormalities and immune complex formation. Genetic, hormonal and environmental factors are known to contribute to the expression of the disease. SLE is very heterogeneous in clinical manifestations and different autoantibodies may predict different set of clinical outcome, however, despite considerable accumulated knowledge, the detailed pathogenesis of SLE still remains unknown. In genetic studies, recent findings in gene expression analyses strongly support the direct role of cytokines and interferons in various immune dysregulations described in SLE. By recent advances in high-throughput SNP genotyping, the association studies of this complex disease have become more practical and for the first time new genetic association results can be confirmed in different population.     

Effects of a multi-nutrient supplement on exercise performance and hormonal responses to resistance exercise

The purpose of this study was to determine the influence of a comprehensive multi-component nutritional supplement on performance, hormonal, and metabolic responses to an acute bout of resistance exercise. Nine healthy subjects ingested either Muscle Fuel™ (MF) or a matched placebo (PL) for 7 days. Subjects then reported to the laboratory, ingested the corresponding supplement, and performed two consecutive days of heavy resistance exercise testing with associated blood draws. MF supplementation improved vertical jump (VJ) power output and the number of repetitions performed at 80% of one repetition maximum (1RM). Additionally, MF supplementation potentiated growth hormone (GH), testosterone, and insulin-like growth factor-1 responses to exercise. Concentrations of circulating myoglobin and creatine kinase (CK) were attenuated immediately following resistance exercise during the MF trial, indicating that MF partially mediated some form of exercise-induced muscle tissue damage. In summary MF enhanced performance and hormonal responses associated with an acute bout of resistance exercise. These responses indicate that MF supplementation augments the quality of an acute bout of resistance exercise thereby increasing the endocrine signaling and recovery following heavy resistance exercise.     

Consumerism: forcing medical practices toward patient-centered care

Consumerism has been apart of many industries over the years; now consumerism may change the way many medical practices deliver healthcare. With the advent of consumer-driven healthcare, employers are shifting the decision-making power to their employees. Benefits strategies like health savings accounts and high-deductible insurance plans now allow the patients to control how and where they spend their money on medical care. Practices that seek to attract the more affluent and informed consumers are beginning to institute patient-centered systems designs that invite patients to actively participate in their healthcare. This article will outline the changes in the healthcare delivery system facing medical practices, the importance of patient-centered care, and six strategies to implement to change toward more patient-centered care.