Your genome is a unique set of biological data that contains lots of information about your chances of getting certain diseases and how you respond to different types of drugs, and in many ways we are just at the beginnings of a revolution in our understanding and use of that genomic data. But what sorts of technologies are powering this revolution? And what does this mean for us as patients and healthcare consumers?
The technology powering our genomic advances is referred to as Next Generation Sequencing (NGS for short). Any genome is just a sequence of the four basic building blocks of DNA – the As, Ts, Gs and Cs - and the human genome has 6bn of these. When the original human genome was sequenced (a term for decoding the order of the DNA building blocks) it took scientists around 10 years and $3bn working across 3 continents. The work was painstakingly done by decoding small segments of the genome and then using complex algorithms to stitch it all together.
The newer NGS technology can be thought of as a “massively parallel” version of this older method, decoding millions of the fragments simultaneously. The latest techniques are able to sequence a whole genome for $1000 in one day (a speed of technological improvement more rapid that computing power’s Moore’s law). Hundreds of thousands of people have had their genomes sequenced using NGS technology and many more projects are underway such as the Genomics England 100,000 genomes endeavour.
This explosion in genomic information is predicted to help patients in a few different ways. Previously, genetic testing (for rare diseases, disease risk and increasingly for cancer treatment) was limited to testing only a tiny relevant portion of the genome, leaving lots of important information uncovered. NGS technologies mean that doctors and researchers can gather a lot more knowledge about a patient and can better diagnose illnesses and choose the most appropriate treatment. Additionally some of the “population scale” experiments using genome sequencing are expected to uncover previously unknown connections between genes, diseases and drugs.
Many important challenges are facing the widespread adoption of genomic information in clinical practice. Doctor and patient education will be crucial to ensure that clinicians help patients make the most informed decisions. And difficult ethical and regulatory considerations regarding storage, privacy and consent need community buy-in and public debate. However, the pace of technological change and advancement of medical knowledge are inspiring. Here at Geneix we believe we are just at the beginning of a revolution using genomic information in medicine.
by Jonathon Marks-Bluth