Personalised medicine: a critique on the future of health care

In recent years we have seen the emergence of “personalised medicine.” This development can be seen as the logical product of reductionism in medical science in which disease is increasingly understood in molecular terms. Personalised medicine has flourished as a consequence of the application of neoliberal principles to health care, whereby a commercial and social need for personalised medicine has been created. More specifically, personalised medicine benefits from the ongoing commercialisation of the body and of genetic knowledge, the idea that health is defined by genetics, and the emphasis the state places on individual citizens as being “responsible for” their own health. In this paper I critique the emergence of personalised medicine by examining the ways in which it has already impacted upon health and health care delivery. Keywords Personalised medicine; Health care; Neoliberalism; Ontology; Epistemology; Ethic

Epidemiology, quality control and consumer access in the medical marketplace: the changing landscape of human genetic technology regulation in Australia

Advances in genetics, genetic therapeutics and the application of genetic technologies to many aspects of human life have challenged the capacity of regulatory authorities and legislative processes the world over. In Australia, developments in the “new genetics” prompted the government to initiate a major inquiry into the protection of human genetic information, resulting in the production and publication of Report 96, titled “Essentially Yours: The Protection of Human Genetic Information in Australia” in 2003. This article examines the recommendations set out in this report and how they have provided Australia with a framework to deal with the advances in human genetic technologies, using the examples of direct-to-consumer personal genome testing and whole-genome sequencing

How genetic testing is swelling the ranks of the ‘worried well’

Genetic testing and screening is increasingly becoming a presence in our lives. Daily news reports discuss new associations between genes and common conditions. And these associations are used to calculate risks for individuals who have the genes for the conditions, but don’t display any symptoms. In essence, these people become the “worried well”, a group of people not yet ill, but at risk of developing diseases. Genetic tests and over-diagnosis Once restricted to the domain of the clinic, genetic testing is now available to most people, either through their doctor or via the internet. There are a variety of tests in the market, some of which can provide risk estimates associated with complex common diseases such as diabetes, obesity, Alzheimer’s disease and cancer. A major concern with such tests is that they’re the beginning of a path toward over-diagnosis, where the potential to develop a disease or being at risk for the disease is strong enough to constitute a label of sickness

The Ethics of Online Genomics Tests

There is a significant difference between the expectation and reality of direct-to-consumer personal genome testing, creating a gap where interesting tensions and ethical dilemmas sit. "They can test for that?” This is often the response when I explain that I study the ethics of genomic tests that consumers can buy online. For the past 7 years I have been studying the field of direct-to-consumer personal genome testing in Australia. This includes following the regulatory changes that have occurred and how they have impacted upon certain companies and the field as a whole. This has been amusing to a degree, as some companies would disappear from the internet only to re-appear with new branding and names a few months later. There has also been a shifting tide of reactions to the field from the media, researchers, clinicians and the academic world. This ranged from scepticism and distrust that this new approach to genomic testing could offer anything of value, and has evolved to the stage where teams of researchers, companies and disease-specific research institutes are now partnering with testing companies to carry out research projects. My work has examined what Australians know, think or expect from this technology. To do this I talked with consumers of the technology and found out what it was like for them to become “genetically aware”

Insomnia and its associations in patients with recurrent glial neoplasms

BACKGROUND: Patient with neurological disorders and cancer can develop sleep disturbance, in particular insomnia. Etiology of insomnia is multi-factorial in primary brain tumour patients with possible causes including corticosteroids, psychoactive medications, co-morbid psychiatric/medical conditions, and damage to neuronal tissue. FINDINGS: To understand better insomnia in recurrent glioma patients, a single-center retrospective analysis was performed looking at recurrent glioma patients from January 2004 to May 2009. Data was extracted and included demographics, clinical factors, psychoactive medications, and co-morbid symptoms. Presence and absence of insomnia complaints was evaluated with other co-morbidities using Chi square and Wilcoxon analyses. Records from 340 recurrent glioma patients were evaluated and 46.8 % (n = 159) indicated presence of insomnia with 20 % (n = 66) actively using medications for sleep. Use of corticosteroids were significantly associated with insomnia (p = 0.0003). Age, gender, tumour location, use of stimulants, antipsychotics, and antidepressants were not significantly associated with insomnia in recurrent glioma patients. There was a trend towards a possible significant association with insomnia to fatigue complaints and use of anti-epileptics, p-values of 0.0501 and 0.0725 respectively. CONCLUSIONS: In conclusion, insomnia is commonly encountered in patients with recurrent glial tumors. Corticosteroid use is associated with insomnia in this population. In light of the frequency of insomnia and its associations, future analysis is warranted into sleep complaints in recurrent glioma patients and its impact on quality of life

Genome-wide acceleration of protein evolution in flies (Diptera)

BACKGROUND: The rate of molecular evolution varies widely between proteins, both within and among lineages. To what extent is this variation influenced by genome-wide, lineage-specific effects? To answer this question, we assess the rate variation between insect lineages for a large number of orthologous genes. RESULTS: When compared to the beetle Tribolium castaneum, we find that the stem lineage of flies and mosquitoes (Diptera) has experienced on average a 3-fold increase in the rate of evolution. Pairwise gene comparisons between Drosophila and Tribolium show a high correlation between evolutionary rates of orthologous proteins. CONCLUSION: Gene specific divergence rates remain roughly constant over long evolutionary times, modulated by genome-wide, lineage-specific effects. Among the insects analysed so far, it appears that the Tribolium genes show the lowest rates of divergence. This has the practical consequence that homology searches for human genes yield significantly better matches in Tribolium than in Drosophila. We therefore suggest that Tribolium is better suited for comparisons between phyla than the widely employed dipterans