5 min readDecoding Humans – Where Are We Now?

Gone are the days where people could be just reactive on their diseases. Now they can be proactive too. Advancements in genetic technologies offer a new ray of hope for people to understand what their genome has got to offer in their lifetime. Easier said than done, current progresses in this field look positive in spite of inherent challenges like cost, privacy and other associated regulatory and application hurdles. The success of the Human Genome Project (HGP) has transformed the lifesciences research sector wherein understanding genetic correlation of diseases has taken a centre stage. Much credit should go to the development of automated DNA sequencers, dyes and reagents without which sequencing the entire genome would have been a distant dream. Today, we see various aspects and areas emerging in this sector which includes progression in sequencing techniques, provision of personal genetic services and complete gene sequencing services, changing opinions on privacy issues and hurdles associated with effective implementation.

This article aims at highlighting recent happenings and advancements associated with the sequencing market from the technology to the services associated with it.

DNA sequencing: Search for the next generation system

DNA sequencing plays a key and an essential role in understanding the genetic connections associated with the disease. It has therefore been the area of intense research in the past decade. Though interpretation of these genetic sequences is still in early stages, the need for developing next generation cost effective genetic sequencing machines also looks equally important considering the future potential attached to it.

Estimates suggest that the DNA sequencer market was worth around $400 million in 2008 growing more than 5 per cent every year. Currently there are close to 30 companies active in this sequencer market with Applied Biosystems leading from the front. Other notable companies in the market include GE Healthcare, 454 Life Sciences and Beckman Coulter to mention a few.

Cost, simplicity and speed seems to be the key defining factors for the next generation sequencer. Many researchers have agreed on the fact that single-molecule sequencing will emerge as a dominant technology of the future to sequence DNA. Unlike the traditional methods, this technology is devoid of amplification processes thereby reducing the errors associated with it. Together, this new technology is capable of identifying rare genetic mutations which might escape unnoticed alongside traditional methods.

The sequencing race

The race to reach the market is getting closer. Oxford Nanopore Technologies, Helicos Biosciences, Complete Genomics, Pacific Biosciences and Knome are some of the notable companies that are very active in this space, though at different stages. Offering complete genome sequencing at a cheaper price to pharmaceutical and biotechnological firms seems to be the major objective, though expansion into personal genome sequencing is also at the forefront for companies like Knome. Infact, Knome has launched its comprehensive gene sequencing service in May 2009 at a cost of $24,500 for individuals. The first of its kind in the industry, the public response for this service is still to be expected.

Translation of genetic data into meaningful information will be the key to the success of these sequencing services. Investment of so many thousands should yield more straight forward and direct answers to the public for its early adoption. Though genetic sequencing appears to be a highly potential market, consumers might be a little reluctant for faster adoption, as the emerging competition could potentially bring down the price in future. For example, last year Complete Genomics announced its plans to offer its services to sequence complete genomes at a price of $5000 to companies involved in genetic research. Announcements like this in the market are likely to create great expectations in the minds of customers and even the investment community, thus creating enormous pressure in the industry.

Most of these companies in the race are start-ups and are dependent on investor funds. Research shows that, unless the hype created by genome sequencing gets translated into tangible results, it will hurt the industry. Investors look at the potential sequencing costs for funding the companies or research studies based on sequencing. Though the emerging companies sound optimistic about affordable and cheaper sequencing prices, such bold statements should be accompanied by realistic outcomes, otherwise it will lead to negative outcomes for the industry.

Personal genome tests

Though whole genome sequencing appears to be the final destination, unleashing its complete potential will definitely take ages. However, the industry has already started capitalizing on growing consumerism with the wealth of genetic information obtained through genome-wide analysis. Many companies have sprung up in recent years to provide genomic profiling services which would look into single nucleotide polymorphisms (SNPs) associated with the risk of developing specific diseases. Some of these companies include Navigenics, 23andMe, DeCode Genetics, SeqWright and LifeCode.

These genetic service providers make use of microarray platforms to provide cost effective SNP-based genotyping. Such chip based services are likely to continue as the cost involved for such services are close to $1,000, excluding counseling charges. With the ability to identify the risk for more than 15 genetic diseases, the growing popularity is encouraging many companies to enter this market. Though such services try to capture the genetic variants with a sample which is equivalent to just less than 0.05 per cent of the genome, the industry has only this better and cost effective choice to offer in the current scenario.

The market for these genomic services is in nascent stages. Some of the buzz words that we commonly encounter in today’s media driven world in connection with health are genes, mutations, genetic diseases and DNA sequencing. People tend to correlate a variety of factors from traits to diseases to our genetic make-up which make things easier to popularize these services. But as a matter of fact, our scientific knowledge in this area still remains inconclusive and such genomic services are not going to be comprehensive in years to come. Growing popularity and awareness levels should be carefully handled by these service providers and should not try to be unrealistic in terms of benefits of such tests.

We have dealt in brief with the kind of services that are emerging in the personal genomics space; right from the whole genome sequencing to SNP based genotyping. These services essentially generate data which should be handled carefully to make informed health decisions. But unlike the existing treatment model, wherein disease diagnosis and treatment falls mostly with physicians, genetic tests are likely to involve counselors who can educate and guide the patients about their genetic status which will empower patients to take informed health decisions. Availability of such data in the hands of patients guides them to make their own decisions; the effects of such democratization should be carefully followed in order to regulate this market. The increase in patients say on their health matters, involvement of new professionals like geneticists and bioinformaticians in providing knowledge and educating patients and decreasing physician roles in treatment decisions has to be carefully handled. The emergence of this new model calls for effective guidance and regulation in order to be successful in the market place which is a unique challenge that the industry is facing today.

Besides developing a viable model to regulate the usage of genome tests, patient concerns over the privacy of their genomic data should be handled carefully. Today we see companies like Microsoft and Google actively looking to expand into the space of online electronic health records which help patients to store and share their health information. Such free records will have to ensure the access to patient’s medical records only under their consent to reduce privacy issues. In turn patients could divulge only sharable information which will bring down their privacy issues.

The above chart depicts the market challenges associated with personal genome testing, 2009.
Source: Frost & Sullivan

Projects like the Personal Genome Project (PGP) headed by George Church of Harvard University are intended to help geneticists looking for genomic sequences for their research. This particular project is aimed at providing genomic sequences along with the medical records of people to accelerate research in this field. According to reports, around 13,000 people are confirmed to enroll in this project which seems to bring a perception of change in the minds of public. Such a big turn out will dramatically improve public opinions about genetic testing, data handling and sharing and the future outlook towards the success of these tests.


DNA sequencing and analysis has come a long way in the past two decades. As the industry is progressing leaps and bounds in providing affordable services to life science researchers/ industry and public, challenges emerge in utilization of such information in a more meaningful and ethical manner. Unlike other markets, the genetic services market needs to be shaped with active involvement from government, patients, service providers; insurance and regulatory bodies as it poses a different model in contrast to the existing one. Though initial hiccups are expected, the market is expected to evolve slowly but strongly with great benefits to mankind.

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