The human genome has been heralded as the key to personalised medicine, but for the longest time complete sequencing of human genomes has been too expensive for everyday clinical use.This led researchers on a search for cheaper ways to sequence DNA — with the goal of finding a way to sequence an entire human genome for under $1,000. Multiple companies have been striving toward this goal.
Some of these groups think the way to the $1,000 genome is through nanopores. These structures are tiny protein-based holes — built into a membrane — that the DNA strand is threaded through. Moving one letter of the genome at a time, the electrical conductivity of the DNA is read. Because each base of the DNA has a different size and shape, which changes the conductivity of the pore, this enables a sensor on the other side of the membrane to read the changes and identify the DNA sequence.
A company called Oxford Nanopore Technologies is about to release a set of technologies based on this idea. They are called the GridION and MinION systems, and could herald in a next generation of DNA sequencing on the cheap. [SEE HOW OXFORD NANOPORE’S DNA SEQUENCER WORKS]
“The GridION platform is an electronic analysis system that can be tailored for the analysis of DNA, RNA, protein and other analytes. This novel technology has applications across personalised healthcare,” the Oxford Nanopore website says.
Being able to quickly and cheaply determine someone’s genetic code could be incredibly useful in not just research settings, but in hospital settings as well.
A person’s genome sequences could be used to identify the causes of rare diseases, especially those which haven’t been identified before. However, this will only be useful in a limited number of patients, and even if the genetic culprit of a disease is identified, there’s no promise that this information will help find a cure or a treatment for the disease.
Another way that doctors can use this information is to determine one’s likelihood of contracting one disease or another. Some companies, for example 23andMe, are currently doing this by scanning a person’s genome for telltale markers of disease, but these have to be identified first. A full genome scan could potentially shed a lot more light onto a person’s genetic risk for certain diseases. It could also encourage someone to make lifestyle changes if they are found to carry genes that could cause an increased risk for disease when linked to environmental factors.
The genetic information from a full genome could also be useful if you learn that you are a carrier for a genetic disease. If your partner is a carrier too, this could mean you should watch out for the disease in your children, screen embryos for the defect, or get your children tested and treated for the disease early.
Knowledge of certain genetic characteristics will also help doctors tailor medicine to individual patients. We know there are certain liver proteins that act differently in different people. For example, one person with the more traditional liver proteins may have no side effects to a drug, but someone who has a less prevalent liver protein profile may react badly to it.
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