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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. Research article

    Empirical estimates of prostate cancer overdiagnosis by age and prostate-specific antigen

    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...

    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

    BMC Medicine 2014 12:26

    Published on: 11 February 2014

  2. Minireview

    What is next after the genes for autoimmunity?

    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....

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

    BMC Medicine 2013 11:197

    Published on: 4 September 2013

  3. Review

    Personalizing health care: feasibility and future implications

    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...

    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…

    BMC Medicine 2013 11:179

    Published on: 13 August 2013

  4. Review

    Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era

    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...

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

    BMC Medicine 2013 11:168

    Published on: 19 July 2013

  5. Question and Answer

    Video Q&A: molecular profiling of breast cancer

    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.

    Carlos Caldas

    BMC Medicine 2013 11:150

    Published on: 18 June 2013

  6. Minireview

    Genetics of scleroderma: implications for personalized medicine?

    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...

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

    BMC Medicine 2013 11:9

    Published on: 11 January 2013

  7. Research article

    Support of personalized medicine through risk-stratified treatment recommendations - an environmental scan of clinical practice guidelines

    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...

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

    BMC Medicine 2013 11:7

    Published on: 9 January 2013

  8. Research article

    Meta-analysis: implications of interleukin-28B polymorphisms in spontaneous and treatment-related clearance for patients with hepatitis C

    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...

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

    BMC Medicine 2013 11:6

    Published on: 8 January 2013

  9. Minireview

    Personalized medicine and atrial fibrillation: will it ever happen?

    Atrial fibrillation (AF) is a common arrhythmia of substantial public health importance. Recent evidence demonstrates a heritable component underlying AF, and genetic discoveries have identified common variant...

    Steven A Lubitz and Patrick T Ellinor

    BMC Medicine 2012 10:155

    Published on: 4 December 2012

  10. Minireview

    Personalized medicine in multiple sclerosis: hope or reality?

    Personalized treatment is highly desirable in multiple sclerosis because it is an immensely heterogeneous disease. This heterogeneity is seen in both the disease course and the treatment responses. Currently, ...

    Tobias Derfuss

    BMC Medicine 2012 10:116

    Published on: 4 October 2012

  11. Review

    Renal cancer biomarkers: the promise of personalized care

    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...

    Naveen S Vasudev, Peter J Selby and Rosamonde E Banks

    BMC Medicine 2012 10:112

    Published on: 27 September 2012

  12. Review

    Stroke genetics: prospects for personalized medicine

    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...

    Hugh S Markus

    BMC Medicine 2012 10:113

    Published on: 27 September 2012

  13. Commentary

    Individual differences and evidence-based psychopharmacology

    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...

    RH Belmaker, Yuly Bersudsky and Galila Agam

    BMC Medicine 2012 10:110

    Published on: 27 September 2012