Posts tagged: Genome Medicine

A new test to predict breast cancer risk

Image credit: Danvasilis/Wikimedia Commons

A simple blood test is currently in development that could help predict the likelihood of a woman developing breast cancer, even in the absence of a high-risk BRCA1 gene mutation, according to research published today in Genome Medicine. So what was found, and what could this mean for future cancer prevention and treatment?

Breast cancer is the most common cancer in the UK, and it’s highly likely you’ll know someone close to you who’s been affected by it.

My partner’s mother, soon to be my mother-in-law, was diagnosed with breast cancer nearly three years ago. What was particularly scary for all of us when we found out about her diagnosis, was that her sister had died of the same disease around …

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Cancer epigenomics and the new holy grail – turning cancer into chronic disease

DNA methylation


Genome Medicine introduces a new series on Cancer epigenomics - the first articles include an editorial from Guest Editor Stephan Beck, a comment from Christoph Bock and a Q&A from Andrew Feinberg, as well as research from Christoph Plass and colleagues.

Recently, Cancer Research UK reported that 50% of people currently diagnosed with cancer will survive for at least 10 years. This compares to just 25% in the early 1970s, when the then US President Richard Nixon signed the National Cancer Act, initiating a ‘war on cancer’ and paving the way for major national and international funding. A cure for the different types of cancer is still elusive, but the achievements of the Human Genome Project and subsequent large-scale cancer-focused …

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Personalizing care in coronary heart disease


A new paper published in Genome Medicine today describes research with the potential to ‘personalize’ treatment for patients with heart disease.


Determining whether or not certain treatments or interventions are right for a particular patient is a tricky business. Much of the time it is about weighing up the benefits versus potential side effects which may be unpleasant for the person being treated. It can ultimately be a matter of life and death.

Personalizing treatment for patients is now talked about for many different conditions, from cancer to arthritis, from heart disease to dental cavities. In essence, and as I’m sure most readers can glean from the name, it entails making treatments more tailored to the …

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Less talking and more doing: the return of secondary genomic findings to patients

woman concentrating (Flickr, RelaxingMusic, CC)

A study published today in Genome Medicine describes a framework for returning ‘secondary’ or ‘incidental’ genomic findings to patients. We take a look at what the implications of this could be, both for patients and clinical researchers.

Close your eyes and imagine for a moment you’re a patient trying to decide whether to enroll in a genome sequencing project at the hospital where you’ re receiving treatment.

As part of the enrolment process it will be explained to you that information in your genome, unrelated to your disease, that might reveal you are at risk of developing another condition could be found. The so-called ‘incidental’ or ‘secondary’ genomic findings. The following questions might cross your mind: would I like to …

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Patient preferences – does offering choice improve treatment outcomes?


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?

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


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


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

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

GM logo

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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