Posts tagged: Genome Medicine

Patient preferences – does offering choice improve treatment outcomes?

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consultation

If you had a condition that could be treated with a single operation that carries risks, or with a series of physiotherapy sessions, which has fewer risks but will take longer, which would you choose?

A post last week on our blogs looked at participatory medicine and what the meaning of ‘participation’ in this context is. Clearly, an element of patient participation is their ability to express a choice in the type of treatment they’re offered.

The choice is down to individual preference, personal needs, circumstances and motivation. These perspectives are becoming increasingly recognised by clinical and policy decision makers and should pave the way for improved patient satisfaction, in addition to outcome and cost-effectiveness of medical care.

The …

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The face of medicine is changing – are we ready for the new era?

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doctor and patient

The news last month that genetic testing company 23andMe has suspended its marketing activities after intervention by the US Food and Drug administration (FDA) has again raised a related issue that’s been under debate now for several years. Should non-medically trained members of the public be offered the power to peer into their own genome?

Participatory medicine, where the patient is actively involved in their healthcare, is fast becoming a reality. The ideal of this new concept is that the clinician and patient are part of the same team, with patients feeling empowered by more available information, and taking a more active and responsible role.

In reality of course, things get a bit more complicated. For example, say I ordered …

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The H3Africa Consortium: leading the genomics revolution in Africa for Africans

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Within the past three years, there has been increasing interest in understanding the wealth of human genetic diversity that exists across the planet. I spent much of my research career studying intra-African genetic variation, and since joining the Genome Medicine team in 2013 I have retained a key interest in this area of research.

The importance of including African populations within evolutionary and clinical research should not be underestimated; Africa is the most diverse continent on Earth, from a human genetics perspective, and with respect to its disease burden. A key aim of the genomics revolution is to translate biomedical research findings into clinical practice; personalised medicine, in particular, is a strategic goal of translational genomics research. …

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Tailoring therapeutic interventions for breast cancer patients

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Posted on behalf of Ru Bains, assistant editor for Genome Medicine

Breast cancer is the most common cancer in women worldwide, and it is the second most common in both sexes combined, affecting over 1.3 million women and over 200,000 men every year. Survival rates vary across the globe and range from 40% in low-income countries to 60% and 85% in middle- and high-income countries, respectively. Differences in survival rates between high- and low-income countries is in part due to nationwide screening programmes in high-income nations, which have been very effective at detecting the disease at early stages.

Treatment guidelines for breast cancers vary across countries, but will involve one, or a combination of surgery, chemo-, …

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Call for papers: Genome Medicine announces a series on Cancer Epigenomics

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Genome Medicine

In 2014, Genome Medicine will publish a series focusing on Cancer Epigenomics, guest edited by Stephan Beck (University College London).   

Large-scale sequencing and high-throughput ‘omic  studies of a wide variety of cancers have revealed epigenomic variations, including DNA methylation, histone modification and mutations in genes involved in epigenetic regulation. These have provided mechanistic insights into cancer initiation and progression, and are revealing novel approaches and targets for therapeutic intervention.

This series aims to bring together translational findings in cancer epigenomics that have the potential to inform new approaches for screening, diagnosis, prevention and treatment of cancer.

The editors are accepting submissions of Research, Method, Database and Software manuscripts. The publication of these articles will be coordinated with specially …

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Call for papers: Genome Medicine announces a new series on Participatory Medicine

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Later this year, Genome Medicine will publish a new thematic series focusing on Participatory Medicine. This article collection will highlight how the implementation of high-throughput technologies such as genomics, transcriptomics, proteomics, and metabolomics is promoting a paradigm shift in healthcare. In this new concept of healthcare, clinician and patient are part of the same team. Patients are empowered by more available information, and take a more active and responsible role, while clinicians welcome them as knowledgeable partners in clinical practice.

The series will be launched in late 2013 and will be guest edited by Charles Auffray (European Institute for Systems Biology and Medicine, Lyon, France) and Leroy Hood (Institute for Systems Biology, Seattle, USA).

The editors are now

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Anti-TNF-alpha therapeutics in chronic inflammatory diseases – seeing in the dark

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Multiple diseases are covered by the umbrella of poorly understood etiology coupled to an exaggerated or misguided inflammatory response. At first sight, it might seem odd that conditions as different as rheumatoid arthritis and Crohn’s disease are grouped together, but a closer look reveals that although the affected tissue is different, there are actually many common pathogenic processes. A good example is the involvement of the pro-inflammatory cytokine TNF-alpha.

Monoclonal antibodies that target TNF-alpha, such as infliximab, are used in the treatment of both diseases. However, the efficacy of the treatment can vary, and some patients can undergo long periods of therapy with no observable benefit. What if it were possible to predict beforehand which patients will respond …

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Looking again at the Lupski-ome

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Genome Medicine

Back in 2009, as a fresh-faced young editor, I attended the second Cold Spring Harbor Personal Genomes meeting. Nowadays medical and individual genomes are 10-a-penny (well, not quite), but four years is a long time in genomic technologies and the atmosphere at that meeting was one of excitement and anticipation. I shared a room with Elizabeth Worthey, who was to publish the clinical genome that saved the life of a child later named as Nicholas Volker, while others spoke about genomic analyses of patients with Miller syndrome and melanoma that have also become classics of the medical genomics literature.

 

Many speakers at that meeting reported patient genome sequencing, but James Lupski’s talk in …

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Presentation of the Microbiology, Immunology, Infection and Inflammation Research Award

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Each year, BioMed Central presents awards in recognition of top quality research published in its journals. The winners of the Microbiology, Immunology, Infection and Inflammation category award are Julia Oh (pictured) and her colleagues for their article ‘Shifts in human skin and nares microbiota in health children and adults’ published in Genome Medicine.

The judges agreed it was an outstanding article that makes an important contribution to the scientific field as well as being of interest to the general public.

The award was presented to Julia Oh at the American Society for Microbiology general meeting in May 2013. Julia and her co-authors were pleasantly surprised and honored when they were informed that their article …

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In this issue of Genome Medicine: disease in the microbial jungle, a technology for target enrichment, genomics of osteoporosis and chronic lymphocytic leukemia, and more…

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The May issue of Genome Medicine features two articles that highlight the role of microbes in human health and disease as part of a recently launched thematic series on this exact topic. Charis Eng muses on the importance of maintaining a healthy microbiome to prevent disease and discusses how microbiome profiles could be used as a diagnostic tool for cancer. On a related topic, a study by Chris Boshoff and colleagues reveals that specific genetic alterations are associated with human papillomavirus (HPV) status in head and neck squamous cell carcinoma. Notably, HPV-positive tumors have more copy number alterations in the PI3 kinase pathway, which might be important for the interpretation of current …

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