Investigating genetic discrimination in Australia: Opportunities and challenges in the early stages

Genetic discrimination, defined as the differential treatment of individuals or their relatives on the basis of actual or presumed genetic differences, is an emerging issue of interest in academic, clinical, social and legal contexts. While its potential significance has been discussed widely, verified empirical data are scarce. Genetic discrimination is a complex phenomenon to describe and investigate, as evidenced by the recent Australian Law Reform Commission inquiry in Australia. The authors research project, which commenced in 2002, aims to document the multiple perspectives and experiences regarding genetic discrimination in Australia and inform future policy development and law reform. Data are being collected from consumers, employers, insurers and the legal system. Attempted verification of alleged accounts of genetic discrimination will be a novel feature of the research. This paper overviews the early stages of the research, including conceptual challenges and their methodological implications.

Methodological Considerations in the Study of Genetic Discrimination

The potential significance and dimensions of genetic discrimination have been described extensively in published literature, but epidemiological and verified case data are limited. Obtaining unbiased data from individuals about discrimination which has been based on erroneous or unjustifiable assumptions about their genetic predispositions poses unique challenges. Through review and discussion of research literature, we identify methodological considerations for collecting valid epidemiological data on genetic discrimination from individuals in the community; in particular, we consider issues which relate to sampling, selection and response. We identify issues to promote sound study design, with particular attention to verification of genetic discrimination, and highlight the importance of clinical and genetic knowledge of complex genotype-phenotype relationships.

Evaluation of an accident and emergency teleconsultation service for north-east Scotland

We evaluated an accident and emergency teleconsultation service provided to 14 community hospitals in north-east Scotland. Each community hospital was equipped with a videoconferencing system and a document camera to allow transmission of radiographs. The network used 384 kbit/s ISDN connections. A total of 1392 teleconsultations were recorded during a 12-month study period. Seventy-seven per cent of patients (n=1072) were managed locally and 23% (n=320) were transferred to Aberdeen. The majority (95%) of teleconsultations were conducted on weekdays, and 90% of these occurred between the hours of 09:00 and 16:00. The mean delay in contacting a doctor was 9 min and the mean consultation time was 10 min. The majority of patients were suffering from fractures or suspected fractures of the limbs. Radiograph transmission was used in 75% of all teleconsultations. A high degree of satisfaction was recorded by all users of the service.

Paediatric telecardiology services in Queensland: a review of three years' experience

Videoconferencing at 384 kbit/s for the transmission of echocardiograms has proved useful for the assessment of children with suspected cardiac disease, in regional areas of Queensland. A retrospective review of patient and management outcomes was conducted on cardiac teleconsultations performed at two regional hospitals during the period November 2000 to February 2004, inclusive. There were 106 echo studies. A subset of 72 cardiac teleconsultations performed between May 2001 and February 2004 was reviewed in detail. The median age of patients at the time of consultation was 3 months (range 1 day-17 years). Sixteen per cent of teleconsultations were classified as urgent and were conducted on the same day as referral. Following the videoconference, 90% of patients could be managed locally and reviewed by the paediatrician or visiting paediatric cardiologist during an outreach clinic. Six children (8%) had significant cardiac lesions that were initially managed locally, with subsequent elective transfer at the appropriate time for treatment. Only one child (1%) required urgent transfer to the tertiary centre for specialist care and surgery. Telecardiology was effective in accurately identifying congenital heart disease. Paediatric telecardiology is an evolving modality of assessment and communication, and is likely to result in continued improvements in patient care, patient outcomes and parental satisfaction, in provincial centres removed from the tertiary cardiac centre.

Paediatric outreach services

Paediatric outreach services are provided in Australia and overseas to regional and rural communities. More recently telehealth services have been established to support the delivery of paediatric services and clinical management at distant sites. It is suggested that with the large distances separating centres in Australia that a combination of telehealth clinics and outreach visits may provide the most efficient means of delivering paediatric specialty and subspecialty care to these centres.

A review of three years experience using email and videoconferencing for the delivery of post-acute burns care to children in Queensland

A virtual outpatient service has been established in Queensland for the delivery of post-acute burns care to children living in rural and remote areas of the state. The integration of telepaediatrics as a routine service has reduced the need for patient travel to the specialist burns unit situated in Brisbane. We have conducted 293 patient consultations over a period of 3 years. A retrospective review of our experience has shown that post-acute burns care can be delivered using videoconferencing, email and the telephone. Telepaediatric bums services have been valuable in two key areas. The first area involves a programme of routine specialist clinics via videoconference. The second area relates to ad-hoc patient consultations for collaborative management during acute presentations and at times of urgent clinical need. The families of patients have expressed a high degree of satisfaction with the service. Telepaediatric services have helped improve access to specialist services for people living in rural and remote communities throughout Queensland. (C) 2003 Elsevier Ltd and ISBI. All rights reserved.

Diagnostic accuracy of and patient satisfaction with telemedicine for the follow-up of paediatric burns patients

Videoconferencing has become a routine technique for the post-acute burns care of children in Queensland. We compared the agreement between clinical assessments conducted via videoconference and assessments conducted in the conventional, face-to-face manner (FTF). A total of 35 children with a previous burn injury were studied. Twenty-five children received three consecutive assessments: first FTF by a consultant in the outpatient department, then by a second consultant who reviewed the patient via videoconference, and then by the second consultant in person. The second consultant also reviewed another 10 children twice. At each review, the following variables were measured: scar colour, scar thickening, contractures, range of motion, the patient's level of general activity, any breakdown of the graft site, and adequacy of the consultation. Agreement between the two consultants when seeing patients FTF was moderately high, with an overall concordance of 85%. When videoconferencing was used, the level of agreement was almost the same, at 84%. If one consultant reviewed patients FTF first and then via videoconference, the overall concordance was 98%; if the process was reversed, the overall concordance was 97%. This study confirms that the quality of information collected during a videoconference appointment is comparable to that collected during a traditional, FTF appointment for a follow-up burns consultation.

A composite DOP approach to excluding bottom reflectance in mapping water parameters of shallow coastal zones from TM imagery

In this paper we proposed a composite depth of penetration (DOP) approach to excluding bottom reflectance in mapping water quality parameters from Landsat thematic mapper (TM) data in the shallow coastal zone of Moreton Bay, Queensland, Australia. Three DOPs were calculated from TM1, TM2 and TM3, in conjunction with bathymetric data, at an accuracy ranging from +/-5% to +/-23%. These depths were used to segment the image into four DOP zones. Sixteen in situ water samples were collected concurrently with the recording of the satellite image. These samples were used to establish regression models for total suspended sediment (TSS) concentration and Secchi depth with respect to a particular DOP zone. Containing identical bands and their transformations for both parameters, the models are linear for TSS concentration, logarithmic for Secchi depth. Based on these models, TSS concentration and Secchi depth were mapped from the satellite image in respective DOP zones. Their mapped patterns are consistent with the in situ observed ones. Spatially, overestimation and underestimation of the parameters are restricted to localised areas but related to the absolute value of the parameters. The mapping was accomplished more accurately using multiple DOP zones than using a single zone in shallower areas. The composite DOP approach enables the mapping to be extended to areas as shallow as <3 m. (C) 2004 Elsevier Inc. All rights reserved.

Effect of granule morphology on breakage behaviour during compression

In the area of dry particle breakage, Discrete Element Method (DEM) simulations have been widely used to analyse the sensitivity of various physical parameters to the behaviour of agglomerates during breakage. This paper looks at the effect of agglomerate shape and structure on the mechanisms and extent of breakage of dry agglomerates under compressive load using DEM simulations. In the simulations, a spherical-shaped agglomerate produced within the DEM code is compared with an irregularly shaped agglomerate, whose structure is that of an actual granule that was characterised with X-ray microtomography (muCT). Both agglomerates have identical particle size distribution, coordination number and surface energy values, with only the agglomerate shape and structure differing between the two. The work here details the breakage behaviour with a number of traditional DEM output parameters (i.e., contact/cluster distributions) with showing vastly different behaviour between the two agglomerates. (C) 2004 Elsevier B.V. All rights reserved.