Analysis

Commentary: Patients will need knowledgeable guidance

BMJ 2013; 347 doi: https://doi.org/10.1136/bmj.f6991 (Published 26 November 2013) Cite this as: BMJ 2013;347:f6991
  1. Alastair Kent, director
  1. 1Genetic Alliance UK, London N1 3QP, UK
  1. alastair{at}geneticalliance.org.uk

Recent progress in our ability to sequence our genome has been astonishing. Increasing speed and ever greater accuracy, coupled with costs falling precipitously, mean that whole genome sequencing is fast approaching the point where it might become a routine tool in the clinical management of patients with rare diseases, cancer, and infectious diseases such as malaria.

Many patients, especially those with rare inherited diseases, experience long delays, often extending over years, before their condition is diagnosed. The advent of genome sequencing holds out the prospect of speedy, accurate diagnosis for all. Developments in stratified medicines, linked to genome analysis, …

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