Personalised care and the genome

BMJ 2012; 344 doi: http://dx.doi.org/10.1136/bmj.e3174 (Published 3 May 2012)
Cite this as: BMJ 2012;344:e3174

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  1. Megan Doerr, genetic specialist,
  2. Charis Eng, Hardis chair
  1. 1Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
  1. engc{at}ccf.org

Using family history to target genomic investigation may be the way forward

One of the universal goals of medicine is to give each patient the most appropriate care. To this end we constantly seek new ways to tailor care. Nothing is more personal than a person’s genetic make-up. Recently, Roberts and colleagues sought to determine the predictive capacity of whole genome sequencing for 24 common diseases using mathematical modelling based on twin studies, and they concluded that this technique does not provide a useful risk assessment for the most common diseases.1 As many have pointed out, neither twin studies nor mathematical modelling are new approaches to assessing heritability, but this study’s findings struck a chord with both the popular and the scientific press, with real time comment from CNN Health (http://thechart.blogs.cnn.com/), Time (www.time.com/time/), Nature NewsBlog (http://blogs.nature.com/news/), and the BMJ.2

Whole genome sequencing—the complete reading of the roughly 3.2 billion base pairs of DNA that makes each individual unique—captures the imagination of scientists and the public alike. Today, little more than a decade since the human genome was first sequenced, the cost of whole genome sequencing is a fraction of what it was, and the richness of the data has increased 100-fold. With this decrease in cost comes increasing excitement that this technology will be the crystal ball we seek, identifying predisposition and …

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