Precision Medicine — Personalized, Problematic, and Promising

Jameson, J. Larry; Longo, Dan L.

doi:10.1056/nejmsb1503104

Cited by 869 publications

(500 citation statements)

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“…A second way to exploit GWAS findings is to develop individualized treatment strategies. The development of so‐called precision medicine is a major goal of current funding concepts (Jameson & Longo, 2015). Unfortunately, there is currently only limited evidence to suggest that genetic testing of individual common risk variants allows for stratification into different treatment modalities.…”

Section: Precision Medicinementioning

confidence: 99%

The impact of genome‐wide association studies on the pathophysiology and therapy of cardiovascular disease

2016

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Cardiovascular diseases are leading causes for death worldwide. Genetic disposition jointly with traditional risk factors precipitates their manifestation. Whereas the implications of a positive family history for individual risk have been known for a long time, only in the past few years have genome‐wide association studies (GWAS) shed light on the underlying genetic variations. Here, we review these studies designed to increase our understanding of the pathophysiology of cardiovascular diseases, particularly coronary artery disease and myocardial infarction. We focus on the newly established pathways to exemplify the translation from the identification of risk‐related genetic variants to new preventive and therapeutic strategies for cardiovascular disease.

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Section: Precision Medicinementioning

confidence: 99%

The impact of genome‐wide association studies on the pathophysiology and therapy of cardiovascular disease

2016

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“…However, patients are still largely stratified on a single molecular marker [19], such as the mutation status of a single gene. Single prognostic gene biomarkers that are used clinically include BRAF(V600E) in melanoma [20], MYCN in neuroblastoma [21,22] and the BRCA genes in breast and ovarian cancer [23][24][25].…”

Section: Precision Medicine Approachesmentioning

confidence: 99%

“…Although many clinicians contend that they have always practiced individualised and personalised medicine [19,56], and that precision medicine may just represent biomedical researchers and pharmaceutical companies catching up, many clinicians aren't aware of the existence of precision medicine. Precision medicine is primarily being driven by biomedical research and industry as opposed to being a movement arising from the clinical coal face.…”

Section: Incorporation Into the Clinicmentioning

confidence: 99%

“…Targeted therapies such as the use of BRAF(V600) inhibitors in malignant melanoma can often achieve dramatic clinical improvements but these are often short lived as tumours quickly adapt, evolving resistance to the drug [20]. Thus far the majority of successes have been in single gene disorders [19], and, just as with earlier attempts, multi-gene and indeed multifactorial diseases are not being overcome as easily by precision medicine approaches.…”

Section: Precision Medicine Revolution or Rebranding?mentioning

confidence: 99%

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Problems, challenges and promises: perspectives on precision medicine

Duffy¹

2015

Brief Bioinform

107

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Conflicts of interest:The author discloses no potential conflicts of interest. Summary key points•Introduction of precision medicine/systems medicine concepts and approaches• Review of some of the challenges to the clinical implementation of precision medicine• Outline of methodologies being employed to overcome these challenges• Examination of the claims that precision medicine has overpromised Author biographyDavid J. Duffy is primarily an experimentalist, based at Systems Biology Ireland in University College Dublin. His research interests include cancer biology and evolutionary developmental biology and the application of omic technologies and systems medicine approaches to address questions in these fields. AbstractThe precision medicine (systems medicine) concept promises to achieve a shift to future

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“…4 PM is typically presented as striving toward making health care more "personalized, predictive, preventive, and participatory." 2 It has been portrayed as a means to optimize care [5][6][7] and to empower both patients and the general public to participate more in treatment decisions as well as to take greater preventive measures. 7 It has also been argued that PM will improve health-care efficiency and reduce system costs.…”

Section: Introductionmentioning

confidence: 99%