A detailed family health history is currently the most potentially useful tool for diagnosis and risk assessment in clinical genetics. We developed and evaluated the usability and analytic validity of a patient-driven web-based family health history collection and analysis tool. Health Heritage^© guides users through the collection of their family health history by relative, generates a pedigree, completes risk assessment, stratification, and recommendations for 89 conditions. We compared the performance of Health Heritage to that of Usual Care using a nonrandomized cohort trial of 109 volunteers. We contrasted the completeness and sensitivity of family health history collection and risk assessments derived from Health Heritage and Usual Care to those obtained by genetic counselors and genetic assessment teams. Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care. Health Heritage also had greater sensitivity than Usual Care when comparing the identification of risks. These results suggest a strong role for automated family health history collection and risk assessment and underscore the potential of these data to serve as the foundation for comprehensive, cost-effective personalized genomic medicine.

The objective of this paper was to systematically review published studies to determine if disability limits access to health care and to attempt to identify what body functions, structures and activities and participation, as well as contextual factors (environmental and personal factors), interact with the health condition to limit this access. The AMED, CINAHL, EMBASE, Medline and psychINFO databases were searched for original study articles in English, dating from 1974 to 2008. Review articles and expert opinion were excluded. Each study had two independent reviews by either a general practitioner or specialist in rehabilitation medicine. Each study was critically appraised according to the National Service Framework for Long-term Conditions (Department of Health, 2005a) methodology and recorded on standardised data extraction sheets. Studies of poor quality were excluded. Sixty studies were included. No randomised controlled trials were identified. Studies broadly fell into the following three main groups: database studies (n=27), quantitative surveys (n=20) and qualitative interviews (n=13). Disabled people are restricted in accessing health care and report less satisfaction with their medical care. Many of the identified studies were from the United States (US) and based on subjective reporting. More objective evidence is needed, especially in the UK, to clarify the true level of access to health care in people with disabilities. The complex, interdependent factors in providing health care to disabled people require complex solutions.

People who are disabled with multiple sclerosis (MS) may be at increased risk of osteoporosis. This review discusses issues relevant to bone health in MS and makes practical recommendations regarding prevention and screening for osteoporosis and fracture risk in MS. A search of the literature up until 5 April 2011 was performed using key search terms, and articles pertinent to bone health in MS were analysed. Bone mineral density (BMD) is reduced at the lumbar spine, hip and total body in MS, with the degree of reduction being greatest at the hip. A strong relationship exists between the disability level, measured by the Expanded Disability Status Score, and BMD at the lumbar spine and femoral neck, particularly the latter. The rate of loss of BMD also correlates with the level of disability. Pulsed corticosteroids for acute episodes of MS, even with a high cumulative steroid dose, do not significantly affect BMD, but an effect on fracture risk is yet to be elucidated. There appears to be no correlation between vitamin D levels and BMD, and the relationship between disability and vitamin D levels remains unclear. Falls and fractures are more common than in healthy controls, and the risk rises with increasing levels of disability. The principal factor resulting in low BMD and increased fracture risk in MS is immobility. Antiresorptive therapy with bisphosphonates and optimising vitamin D levels are likely to be effective interventions although there are no randomised studies of this therapy.

Visual analogue scales and pain drawings may be useful in assessing pain experienced by EPIOC users, which may be severe and appears to increase in severity and distribution during the day.

The lack of consistent undergraduate curriculum, knowledge of rehabilitation medicine and academic opportunities contribute to the inadequate perception of the speciality to the undergraduates. The attitude of medical students towards rehabilitation medicine is important for its future development as a specialty. Further standardisation of teaching rehabilitation medicine at a national level, promoting research activity in this area and increasing the profile of rehabilitation medicine are warranted.