Personal computing transported the technology out of large machines to the comfort of a room in the form of desktop, laptop and palmtop computers. A similar revolution is now underway with human genome analysers where the concept of expensive DNA decoding is gradually moving out of large medical facilities and onto researchers’ tables and, ultimately, to common people.

One such example is the Personal Genome Machine (PGM) which is presently being used for research purposes only and is a size of a desktop printer. The idea is to input a sample of DNA and receive the results within hours. Since it’s a research-based device, the genetic sequencing revealed cannot be used for medical diagnostic or therapeutic purposes as yet, but it has still achieved what other machines could not do: use a technology similar to computers, which is parallel semiconductor-based sensors measuring hydrogen ions generated by DNA replication.

This real-time processing is the key to speed, using which genetic information is transformed into digital information for the end-user’s consumption. This machine, which weighs around 30kgs, comes with iPod and iPhone dock and sports a touchscreen interface.

One may wonder whether there is a real need to invest time and money in creating smaller and faster DNA and genome sequencing machines and then making it public. The answer is simple: the research in DNA sequencing is the key to understanding basic physical features of human beings and is instrumental in preventing and providing cure for diseases linked to genetic composition.

Additionally, a personal gene sequence can help determine mutations that can predict which drugs will work best in a given condition. Earlier, complete human gene sequencing had been a daunting task, but the Human Genome Project undertook it successfully and it helped determine the exact order of the three billion chemical building blocks making up the DNA of 24 chromosomes found in the human DNA.

Based on these rapid advancements, companies like HolGenTech.com have taken the genome application to the next level by introducing a smartphone Personal Genome Assistant (PGA). This is a unique handset application that reads bar code off a product wrapping to identify ingredients and matches the data with data generated by service providers like 23andMe and Navigenics.

The former is a retail DNA testing service (DTS) that allows interested users to purchase a kit from its online store, provide saliva sample in a test tube present in the kit and ship it to the lab. After a few weeks, results are available online. According to the service, it provides users with details on personal traits from baldness to muscle performance, risk factors for 94 diseases, predicted response to drugs and even ancestral origins. Navigenics also work in a similar way using saliva sample.

The smartphone application also takes into account users' personal health data stored in database services like Google health and Microsoft health vault. This integrated, matched view provides a recommendation score to allow the consumers to make a choice when purchasing a particular product. The idea is to make consumers aware of any risks associated with the use of product with a known genetic or medical condition.

Upcoming devices

Scientists at Imperial College, London, are researching on workable and quick ways of sequencing the entire genetic makeup. Since each human genome consists of around three billion bases, this at present takes about 3.5 days to sequence them.

Compared to this, the new device will sequence an entire human genome in about five minutes. The methods available at present can sequence genes at a rate of 10 bases/second approximately. However, it’s expected that with the success of the researches, the genome devices will be able to read around 10 million bases/second.

The latest genome device functions on the fact that each base protein has its unique electrical signal. Each strand of DNA is passed through a 50 nanopore openings in a silicon chip. As it goes through the tiny gap, a tunnelling electrode junction on the other side reads each base's distinct electrical signal. And even though using electrical signatures to read DNA is not a new idea, the problem was that no one was able create a small enough electrode junction until now.

However, the team at Imperial College have successfully constructed a prototype with a small enough gap to read DNA bases. After this they will work on calibrating the device to identify the individual bases. The scientists working on this project are optimistic that their method will be in wide use within the next 10 years.

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