Ramesh looked into the mirror, turned his head left, right and took a deep sigh! “I wish at seventeen, someone told me that I would turn bald, I could have been a little more careful”. A simple gene test could do that for him now. Research suggests that variations in a gene called AR increase the risk for the most common form of hair loss in both men and women. He could not get gene testing then, but his children may get it in 2017.
Something similar to this had happened in 2015, it was news when Angelina Jolie underwent double mastectomy. She chose surgery to remove her breasts. This was after a test for mutated BRCA1 and BRCA2 genes that revealed that she was at a high risk for breast cancer. She could avoid that risk because she could sneak peak into her future. Men were also worried; of course she was the most admired woman at that time, they were worried more because breast cancer is not exclusive to women.
It will soon be a reality for anyone to get DNA sequenced, for pleasure or for purpose. It was no less than a sci-fi thriller to read the human DNA sequence until the early 2000s when it cost ~ $3 billion and fifteen years. It seemed to be still on the cloud with ~$14 million in 2006. By mid 2015 when newer technologies caught it at ~$4000, researchers aimed to stoop it to ~$1000 in three days. Until recently, the cost of sequencing crashed but scientists had to shed a hefty few million dollars to buy the bulky machines.
Rejoice! It would soon become a reality to know your DNA sequence in a single affordable test. A game changer technology, Oxford Nanopore MinION (ONM) aims to do it in much less penny and time. It doesn’t serve all that it promises at present, when the test costs ~$500, it is still less burdening because the machine costs less than $1000. It can be carried in a shirt pocket, as it is the size of a USB stick weighing 87 grams that has to be plugged into a laptop with an ordinary configuration to read DNA sequence. It is possible for an ordinary lab technician without rigorous training to give you a snippet of your genes in less than six hours.
This technology is alarmingly simple. Applied voltage is used to pass DNA through a minute hole called Nanopore that rests on a non-conducting membrane. The changes in current flowing through the pore are used as readouts of DNA sequence. This approach encompasses time consuming and tedious processes of DNA labeling and amplification, hence, can be scaled up for high-throughput sequencing.
This technique gives a tough competition to other technology giants like lllumina who has filed a patent lawsuit against Oxford Nanopore. They have withdrawn the lawsuit by settling on some monetary and regulatory terms.
To give you a flavor of what this machine can do, Joe Parker and his team from Jordell Laboratory, UK have shared a breath taking video of sequencing a fungal genome amidst a dense forest in a camp. He jumps to joy when he says “you work but not in the lab anymore”. He is thrilled that now he can go in the wild to sequence wild species. He doesn’t have to limit the DNA sequencing research to lab organisms anymore. In another setting, researchers at Stanley Royd Hospital, UK could identify a serotype variant of Salmonella enterica during a gastroenteritis outbreak by sequencing its genome using ONM in less than 50 minutes, a process that would otherwise have taken a few weeks or months.
It is a DNA sequencing machine that could be used where the resources are critical, electricity availability is a problem, lab space and computational capacities are limiting. It provides the option to “Read till” a sequence in real time where the user can choose to read the DNA of interest and skip regions that aren’t required. Hence we can read many genes in one go in less time.
Apart from being portable, user friendly and cheaper: it can be used to wand another wonder. Alas! Direct RNA sequencing. You can now sequence viruses from patient samples, soil or plants and name what not. We know that viruses like HIV and influenza mutate at incredible speeds, by the time we have one set of sequences, they have already changed. Now we could sequence them on a hospital site within no time. If genome wide RNA sequencing can be done at minimal cost in the coming years, it could change the medical field completely. During the recent Ebola outbreak, scientists at New Guinea traced the spread of the virus in less than 40 minutes. A separate group of researchers at University of California, San Francisco detected Ebola, Chikungunya and Hepatitis C virus in human samples within four to forty minutes of the sequencing run. This technology is giving many researchers serious shopping goals.
It is the first DNA sequencer to fly off to space in July 2016. It would be the first of its kind to be out of the world, literally!
In May 2016, Oxford Nanopore announced that it is developing a techno variant SmidgION that would read DNA to your smartphone. It would cut costs considerably and read long sequences in few hours.
This technology is banging the doors of future. When sequencing becomes a $20 reality, we could screen newborn infants for several inheritable diseases such as pancreatic, ovarian, prostrate, breast cancer and some brain developmental disorders soon after delivery. We could screen bacteria and viruses from patient samples, sequence the antibiotic resistance genes and know which drugs will be ineffective. Without randomly dosing all patients with antibiotics, we could prescribe them with perfect pills. Ladies and gentlemen, fasten your seatbelts and get ready to go, the era of personalized medicines is here!
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