It’s been over a decade since the human genome was first sequenced. In that time, we have seen a great deal of progress take place as we head toward genomic medicine. But what does it actually look like, and what still needs to happen to get us there? Paldeep Atwal, Medical Director at the Mayo Clinic Center for Individualized Medicine takes a look.
By Liz Harley | Front Line Genomics
After the first human genome was sequenced in 2003 there was a great deal of anticipation and excitement. The vision was of a new era of ‘Genomic Medicine’ where the complexities of a patient’s DNA would be used seamlessly and integrated with current medical treatment. However there were no immediate or tangible benefits apparent, and while the media storm died down, genetic research increased exponentially. Fast forward to today and there is lots of talk of genomic medicine and the new field of precision/ individualized/personalized/stratified medicine has emerged promising better clinical decisions through improved individualized approaches. Some of the benefits include better targeted therapies such as molecular targets in cancer, reduced side-effects of drugs with the help of pharmacogenomics testing, increased prevention of prediction of disease using a molecular approach, reduce healthcare costs and improve overall patient care outcomes. Indeed genetics and genomics is reaching an inflection point in terms of cost, volumes and knowledge. The numbers are impressive, cost of sequencing is now below $1000, number of sequences performed to date reaches into seven figures and validated singlebase variants in the human genome continues to increase with ever expanding genetic knowledge. Genetics and genomics is firmly within the public spotlight, from direct-to-consumer testing …
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