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Personalized medicine: genes, biomarkers and tailored treatment

Personalized medicine is gaining recognition due to limitations with standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored treatment for individual patients based on their genetic signatures and clinical characteristics. Advances in whole genome sequencing have allowed the identification of genes involved in a large number of diseases, and biomarkers that indicate disease severity or susceptibility to treatment are increasingly being characterized. The continued identification of new genes and biomarkers specific to disease subtypes and individual patients is essential for translation into personalized medicine, in terms of estimating both disease risk and response to therapy. This article collection covers recent advances in personalized medicine across all areas of medical science and clinical practice, demonstrating that patient-tailored treatment is being employed for some diseases, whereas more work is required to translate scientific advances into the clinic for others. We are seeking submissions of original research, reviews and debates offering insights into new advances in this exciting area of medicine.

  1. Content type: Research article

    Prostate cancer screening depends on a careful balance of benefits, in terms of reduced prostate cancer mortality, and harms, in terms of overdiagnosis and overtreatment. We aimed to estimate the effect on ove...

    Authors: Andrew J Vickers, Daniel D Sjoberg, David Ulmert, Emily Vertosick, Monique J Roobol, Ian Thompson, Eveline AM Heijnsdijk, Harry De Koning, Coral Atoria-Swartz, Peter T Scardino and Hans Lilja

    Citation: BMC Medicine 2014 12:26

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  2. Content type: Minireview

    Clinical pathologies draw us to envisage disease as either an independent entity or a diverse set of traits governed by common physiopathological mechanisms, prompted by environmental assaults throughout life....

    Authors: John Castiblanco, Mauricio Arcos-Burgos and Juan-Manuel Anaya

    Citation: BMC Medicine 2013 11:197

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  3. Content type: Review

    Considerable variety in how patients respond to treatments, driven by differences in their geno- and/ or phenotypes, calls for a more tailored approach. This is already happening, and will accelerate with deve...

    Authors: Brian Godman, Alexander E Finlayson, Parneet K Cheema, Eva Zebedin-Brandl, Inaki Gutiérrez-Ibarluzea, Jan Jones, Rickard E Malmström, Elina Asola, Christoph Baumgärtel, Marion Bennie, Iain Bishop, Anna Bucsics, Stephen Campbell, Eduardo Diogene, Alessandra Ferrario, Jurij Fürst…

    Citation: BMC Medicine 2013 11:179

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  4. Content type: Review

    Lung cancer is the leading cause of cancer death worldwide in part due to our inability to identify which smokers are at highest risk and the lack of effective tools to detect the disease at its earliest and p...

    Authors: John F Brothers, Kahkeshan Hijazi, Celine Mascaux, Randa A El-Zein, Margaret R Spitz and Avrum Spira

    Citation: BMC Medicine 2013 11:168

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  5. Content type: Question and Answer

    In this video Q&A, we talk to Professor Carlos Caldas about the identification of breast cancer subtypes through molecular profiling, and the clinical implications for diagnosis and treatment.

    Authors: Carlos Caldas

    Citation: BMC Medicine 2013 11:150

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  6. Content type: Review

    Methotrexate (MTX) is the central drug in the management of rheumatoid arthritis (RA) and other immune mediated inflammatory diseases. It is widely used either in monotherapy or in association with other synth...

    Authors: Vasco Crispim Romão, Helena Canhão and João Eurico Fonseca

    Citation: BMC Medicine 2013 11:17

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  7. Content type: Minireview

    Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma) in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robust...

    Authors: Shervin Assassi, Timothy RDJ Radstake, Maureen D Mayes and Javier Martin

    Citation: BMC Medicine 2013 11:9

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  8. Content type: Research article

    Risk-stratified treatment recommendations facilitate treatment decision-making that balances patient-specific risks and preferences. It is unclear if and how such recommendations are developed in clinical prac...

    Authors: Tsung Yu, Daniela Vollenweider, Ravi Varadhan, Tianjing Li, Cynthia Boyd and Milo A Puhan

    Citation: BMC Medicine 2013 11:7

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  9. Content type: Research article

    Since 2009, several studies have identified single-nucleotide polymorphisms (SNPs) near the gene encoding for interleukin (IL)-28 (IL28B) that are strongly associated with spontaneous and treatment-induced hepati...

    Authors: María A Jiménez-Sousa, Amanda Fernández-Rodríguez, María Guzmán-Fulgencio, Mónica García-Álvarez and Salvador Resino

    Citation: BMC Medicine 2013 11:6

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  10. Content type: Review

    Significant advances in our understanding of the biology of renal cell carcinoma (RCC) have been achieved in recent years. These insights have led to the introduction of novel targeted therapies, revolutionisi...

    Authors: Naveen S Vasudev, Peter J Selby and Rosamonde E Banks

    Citation: BMC Medicine 2012 10:112

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  11. Content type: Review

    Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactori...

    Authors: Hugh S Markus

    Citation: BMC Medicine 2012 10:113

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  12. Content type: Commentary

    Individual differences in response to pharmacologic treatment limits the usefulness of mean data obtained from randomized controlled trials. These individual differences exist even in genetically uniform inbre...

    Authors: RH Belmaker, Yuly Bersudsky and Galila Agam

    Citation: BMC Medicine 2012 10:110

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  13. Content type: Commentary

    While diagnosis has traditionally been viewed as an essential concept in medicine, particularly when selecting treatments, we suggest that the use of diagnosis alone may be limited, particularly within mental ...

    Authors: Craig A Macneil, Melissa K Hasty, Philippe Conus and Michael Berk

    Citation: BMC Medicine 2012 10:111

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