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Personalized medicine: genes, biomarkers and tailored treatment

Collection published: 27 September 2012

Last updated: 4 September 2013

Personalized Medicine Logo 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. These articles will be published in BMC Medicine as part of this ongoing article collection, and if you would like your work to be considered you can send a pre-submission query to bmcmedicineeditorial@biomedcentral.com.

		Minireview What is next after the genes for autoimmunity? John Castiblanco, Mauricio Arcos-Burgos, Juan-Manuel Anaya BMC Medicine 2013, 11:197 (4 September 2013) Abstract \| Full text \| PDF \| Editor’s summary Autoimmune diseases have complex etiology and are known to aggregate in families; Juan-Manuel Anaya and colleagues review the genetic components of autoimmunity and discuss the challenges associated with genetic analysis and disease prediction.
		Review Personalizing health care: feasibility and future implications 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, Kristina Garuoliene, Miguel Gomes, Katharine Harris, Alan Haycox, Harald Herholz, Krystyna Hviding, Saira Jan, Marija Kalaba, Christina Kvalheim, Ott Laius, Sven-Ake Lööv, Kamila Malinowska, Andrew Martin, Laura McCullagh et al. BMC Medicine 2013, 11:179 (13 August 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Brian Godman and colleagues review the challenges and concerns associated with personalized medicine, emphasizing that it has the potential to revolutionize care, but knowledge from a payer’s perspective must be integrated to move forwards.
		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 John F Brothers, Kahkeshan Hijazi, Celine Mascaux, Randa A El-Zein, Margaret R Spitz, Avrum Spira BMC Medicine 2013, 11:168 (19 July 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Early detection of lung cancer is important so patients can be treated as soon as possible; Avrum Spira and colleagues review genetic and genomic biomarkers in development for early diagnosis, and discuss how they could reduce lung cancer deaths.
		Opinion Personalizing guidelines for diabetes management: twilight or dawn of the expert? Stavroula A Paschou, Richard David Leslie BMC Medicine 2013, 11:161 (10 July 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Stavroula Paschou and David Leslie discuss the limitations of guidelines for managing type 2 diabetes and recommend that a more personalized approach is required, taking multiple targets and therapies into account.
		Minireview Genetic heterogeneity in breast cancer: the road to personalized medicine? Richard D Baird, Carlos Caldas BMC Medicine 2013, 11:151 (21 June 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Richard Baird and Carlos Caldas review recent progress in the molecular profiling of breast cancer, and discuss how genomics studies have shown variability in different patients, leading to the identification of new prognostic biomarkers.
		Question and Answer Video Q&A: molecular profiling of breast cancer Carlos Caldas BMC Medicine 2013, 11:150 (21 June 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary We talk to Carlos Caldas about the identification of distinct breast cancer subtypes through molecular profiling, and discuss the clinical implications for diagnosis and treatment.
		Review Old drugs, old problems: where do we stand in prediction of rheumatoid arthritis responsiveness to methotrexate and other synthetic DMARDs? Vasco Romão, Helena Canhão, João Fonseca BMC Medicine 2013, 11:17 (23 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary João Fonseca and colleagues review genetic and non-genetic predictors of response to therapy in patients with rheumatoid arthritis, and discuss how predictive markers could be used to select individual patients for the most appropriate treatment.
		Minireview Genetics of scleroderma: implications for personalized medicine? Shervin Assassi, Timothy RDJ Radstake, Maureen D Mayes, Javier Martin BMC Medicine 2013, 11:9 (11 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Javier Martin and colleagues review recent advances in understanding the genetic basis of scleroderma, and discuss how genetic information can be included in clinical trial design to develop a personalized approach to monitoring and treatment.
		Minireview Bariatric surgery: the challenges with candidate selection, individualizing treatment and clinical outcomes KJ Neff, T Olbers, CW le Roux BMC Medicine 2013, 11:8 (10 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Carel le Roux and colleagues discuss the associated health benefits of bariatric surgery which can effectively reduce the burden of obesity, and review options for candidate selection for best outcome and the challenges of individualizing treatment.
		Research article Support of personalized medicine through risk-stratified treatment recommendations - an environmental scan of clinical practice guidelines Tsung Yu, Daniela Vollenweider, Ravi Varadhan, Tianjing Li, Cynthia Boyd, Milo A Puhan BMC Medicine 2013, 11:7 (9 January 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary An analysis of clinical practice guidelines (CPGs) for chronic diseases shows that only a small proportion of CPGs make risk-stratified recommendations, and it is uncertain if they take benefit and harm into account for individual patients.
		Research article Meta-analysis: implications of interleukin-28B polymorphisms in spontaneous and treatment-related clearance for patients with hepatitis C María A Jiménez-Sousa, Amanda Fernández-Rodríguez, María Guzmán-Fulgencio, Mónica García-Álvarez, Salvador Resino BMC Medicine 2013, 11:6 (8 January 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Evidence from a meta-analysis suggests that IL28B polymorphisms affect hepatitis C treatment outcome and that the most appropriate genetic marker depends on ethnicity, suggesting that these factors should be considered when making treatment decisions.
		Minireview Personalized medicine and atrial fibrillation: will it ever happen? Steven A Lubitz, Patrick T Ellinor BMC Medicine 2012, 10:155 (4 December 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Steven Lubitz and Patrick Ellinor describe recent progress in understanding the genetics of atrial fibrillation, and discuss how genetic information can be applied in the clinic in a personalized approach to risk prediction and treatment.
		Minireview Personalized medicine in multiple sclerosis: hope or reality? Tobias Derfuss BMC Medicine 2012, 10:116 (4 October 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Tobias Derfuss reviews the progress made in biomarker discovery for multiple sclerosis and discusses how this can help develop a more personalized approach towards treatment of this highly heterogeneous disease.
		Review Stroke genetics: prospects for personalized medicine Hugh S Markus BMC Medicine 2012, 10:113 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Hugh Markus reviews the latest developments in stroke genetics, highlighting how the variants identified confer only a small risk of disease, and describes how pharmacogenomic approaches can be applied for patient-tailored therapy.
		Review Renal cancer biomarkers: the promise of personalized care Naveen S Vasudev, Peter J Selby, Rosamonde E Banks BMC Medicine 2012, 10:112 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Rosamonde Banks and colleagues review recent advances in the genetics and epigenetics of renal cell carcinoma, and discuss how personalized care is being developed through the characterization of biomarkers in the clinic.
		Commentary Is diagnosis enough to guide interventions in mental health? Using case formulation in clinical practice Craig A Macneil, Melissa K Hasty, Philippe Conus, Michael Berk BMC Medicine 2012, 10:111 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Craig Macneil and colleagues comment on the need for clinicians to take a personalized approach when treating patients with mental health disorders, so that the most appropriate intervention can be selected for patients by taking their individual factors into account.
		Commentary Individual differences and evidence-based psychopharmacology RH Belmaker, Yuly Bersudsky, Galila Agam BMC Medicine 2012, 10:110 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Robert Belmaker and colleagues comment on the importance of understanding individual differences for effective drug treatment of psychiatric disorders, and emphasize that patient heterogeneity should be reported in randomised clinical trials.

		Minireview What is next after the genes for autoimmunity? John Castiblanco, Mauricio Arcos-Burgos, Juan-Manuel Anaya BMC Medicine 2013, 11:197 (4 September 2013) Abstract \| Full text \| PDF \| Editor’s summary Autoimmune diseases have complex etiology and are known to aggregate in families; Juan-Manuel Anaya and colleagues review the genetic components of autoimmunity and discuss the challenges associated with genetic analysis and disease prediction.
		Review Personalizing health care: feasibility and future implications 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, Kristina Garuoliene, Miguel Gomes, Katharine Harris, Alan Haycox, Harald Herholz, Krystyna Hviding, Saira Jan, Marija Kalaba, Christina Kvalheim, Ott Laius, Sven-Ake Lööv, Kamila Malinowska, Andrew Martin, Laura McCullagh et al. BMC Medicine 2013, 11:179 (13 August 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Brian Godman and colleagues review the challenges and concerns associated with personalized medicine, emphasizing that it has the potential to revolutionize care, but knowledge from a payer’s perspective must be integrated to move forwards.
		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 John F Brothers, Kahkeshan Hijazi, Celine Mascaux, Randa A El-Zein, Margaret R Spitz, Avrum Spira BMC Medicine 2013, 11:168 (19 July 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Early detection of lung cancer is important so patients can be treated as soon as possible; Avrum Spira and colleagues review genetic and genomic biomarkers in development for early diagnosis, and discuss how they could reduce lung cancer deaths.
		Opinion Personalizing guidelines for diabetes management: twilight or dawn of the expert? Stavroula A Paschou, Richard David Leslie BMC Medicine 2013, 11:161 (10 July 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Stavroula Paschou and David Leslie discuss the limitations of guidelines for managing type 2 diabetes and recommend that a more personalized approach is required, taking multiple targets and therapies into account.
		Minireview Genetic heterogeneity in breast cancer: the road to personalized medicine? Richard D Baird, Carlos Caldas BMC Medicine 2013, 11:151 (21 June 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Richard Baird and Carlos Caldas review recent progress in the molecular profiling of breast cancer, and discuss how genomics studies have shown variability in different patients, leading to the identification of new prognostic biomarkers.
		Question and Answer Video Q&A: molecular profiling of breast cancer Carlos Caldas BMC Medicine 2013, 11:150 (21 June 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary We talk to Carlos Caldas about the identification of distinct breast cancer subtypes through molecular profiling, and discuss the clinical implications for diagnosis and treatment.
		Review Old drugs, old problems: where do we stand in prediction of rheumatoid arthritis responsiveness to methotrexate and other synthetic DMARDs? Vasco Romão, Helena Canhão, João Fonseca BMC Medicine 2013, 11:17 (23 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary João Fonseca and colleagues review genetic and non-genetic predictors of response to therapy in patients with rheumatoid arthritis, and discuss how predictive markers could be used to select individual patients for the most appropriate treatment.
		Minireview Genetics of scleroderma: implications for personalized medicine? Shervin Assassi, Timothy RDJ Radstake, Maureen D Mayes, Javier Martin BMC Medicine 2013, 11:9 (11 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Javier Martin and colleagues review recent advances in understanding the genetic basis of scleroderma, and discuss how genetic information can be included in clinical trial design to develop a personalized approach to monitoring and treatment.
		Minireview Bariatric surgery: the challenges with candidate selection, individualizing treatment and clinical outcomes KJ Neff, T Olbers, CW le Roux BMC Medicine 2013, 11:8 (10 January 2013) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Carel le Roux and colleagues discuss the associated health benefits of bariatric surgery which can effectively reduce the burden of obesity, and review options for candidate selection for best outcome and the challenges of individualizing treatment.
		Research article Support of personalized medicine through risk-stratified treatment recommendations - an environmental scan of clinical practice guidelines Tsung Yu, Daniela Vollenweider, Ravi Varadhan, Tianjing Li, Cynthia Boyd, Milo A Puhan BMC Medicine 2013, 11:7 (9 January 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary An analysis of clinical practice guidelines (CPGs) for chronic diseases shows that only a small proportion of CPGs make risk-stratified recommendations, and it is uncertain if they take benefit and harm into account for individual patients.
		Research article Meta-analysis: implications of interleukin-28B polymorphisms in spontaneous and treatment-related clearance for patients with hepatitis C María A Jiménez-Sousa, Amanda Fernández-Rodríguez, María Guzmán-Fulgencio, Mónica García-Álvarez, Salvador Resino BMC Medicine 2013, 11:6 (8 January 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Evidence from a meta-analysis suggests that IL28B polymorphisms affect hepatitis C treatment outcome and that the most appropriate genetic marker depends on ethnicity, suggesting that these factors should be considered when making treatment decisions.
		Minireview Personalized medicine and atrial fibrillation: will it ever happen? Steven A Lubitz, Patrick T Ellinor BMC Medicine 2012, 10:155 (4 December 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Steven Lubitz and Patrick Ellinor describe recent progress in understanding the genetics of atrial fibrillation, and discuss how genetic information can be applied in the clinic in a personalized approach to risk prediction and treatment.
		Minireview Personalized medicine in multiple sclerosis: hope or reality? Tobias Derfuss BMC Medicine 2012, 10:116 (4 October 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Tobias Derfuss reviews the progress made in biomarker discovery for multiple sclerosis and discusses how this can help develop a more personalized approach towards treatment of this highly heterogeneous disease.
		Review Stroke genetics: prospects for personalized medicine Hugh S Markus BMC Medicine 2012, 10:113 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Hugh Markus reviews the latest developments in stroke genetics, highlighting how the variants identified confer only a small risk of disease, and describes how pharmacogenomic approaches can be applied for patient-tailored therapy.
		Review Renal cancer biomarkers: the promise of personalized care Naveen S Vasudev, Peter J Selby, Rosamonde E Banks BMC Medicine 2012, 10:112 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Rosamonde Banks and colleagues review recent advances in the genetics and epigenetics of renal cell carcinoma, and discuss how personalized care is being developed through the characterization of biomarkers in the clinic.
		Commentary Is diagnosis enough to guide interventions in mental health? Using case formulation in clinical practice Craig A Macneil, Melissa K Hasty, Philippe Conus, Michael Berk BMC Medicine 2012, 10:111 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary Craig Macneil and colleagues comment on the need for clinicians to take a personalized approach when treating patients with mental health disorders, so that the most appropriate intervention can be selected for patients by taking their individual factors into account.
		Commentary Individual differences and evidence-based psychopharmacology RH Belmaker, Yuly Bersudsky, Galila Agam BMC Medicine 2012, 10:110 (27 September 2012) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary Robert Belmaker and colleagues comment on the importance of understanding individual differences for effective drug treatment of psychiatric disorders, and emphasize that patient heterogeneity should be reported in randomised clinical trials.