Precision medicine

Precision medicine is an approach that integrates clinical and molecular information to understand the biological basis of disease. This information can be obtained by converting DNA into data through a process called genome sequencing.

One of the most innovative and fast moving fields in healthcare is genomics, which encompasses the sequencing and analysis of the human genome (our complete set of DNA). Genomics is enabling pharmaceutical companies to take a more personalised approach to drug development and will lead to safer and more effective drugs. Here’s how genome sequencing is aiding drug research and development.

Although we all share around 99.5% of our DNA, there are still millions of differences between the genomes of two people. These differences can affect our susceptibility to certain diseases and the way that we respond to medicines.

Genome sequencing/testing can identify disease risk, ancestry, traits and response to medicines and is aiding in the development of new targeted therapies, sometimes called precision medicines. Through understanding of genomic information, pharmaceutical companies are now able to produce targeted therapies that affect pathogens or cancer cells but which do not damage healthy body cells.

Before targeted therapies are administered, they usually require genetic screening to ensure that patients are not at risk, with use of biomarkers to identify people who have these unusual results. Abacavir/Ziagen is one such drug. Hypersensitivity to the HIV/AIDS therapy from ViiV Healthcare (a joint venture company of GSK, Pfizer and Shionogi) has been shown to be associated with a specific allele, so even though it is effective in over 90% of patients genetic testing must be done before it can be prescribed. In cases in which the treatment would not be suitable, alternative therapies are sought.

Researchers can use this data to identify specific gene abnormalities, or biomarkers, to understand which types of patients a drug will be most effective for, and who is likely to experience severe side-effects. This can aid in the development of new targeted therapies and the repurposing of existing drugs.

Thanks in part to President Obama’s $215 million Precision Medicine Initiative and a plethora of genomics research companies, genome projects are beginning to gather momentum. The FDA has expedited programmes for targeted therapies which can reduce the time that it takes to bring these therapies to market.

In the UK, GlaxoSmithKline, Roche, AstraZeneca, Biogen, AbbVie and others are reportedly working with Genomics England on their project to sequence 100,000 genomes from 70,000 NHS patients with rare diseases and cancer, and both Roche and Pfizer have also agreed deals with 23andMe to access their community of patients with Parkinson’s and Crohn’s disease respectively, to look for genetic clues to their causes.

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