Mass Market 1000 Genome Business Essay


Last time this market had a major wave of innovation was over a decade ago which started with big technological advances due to new funding for new ventures, but resulted in the rise of a sole technologies provider who dominated the market and stunted technological advancement. Now, the emergence of a new wave, the Next Generation Systems wave, has seen major investment and hyper technological growth, and this technological growth has left everything wide open. Now with the price of sequencing a genome falling rapidly and with mass commercialisation in the near future brings the question, will history end up repeating itself; will this current wave of start-ups be picked off and will a sole key player emerge who will dominate the market? And furthermore, what sort of affect will this have on commercialisation off sequencing technologies? These questions are complex in a way that it infers the ability to effectively envisage how companies will react to rapidly changing market settings when they only have a very short, but fast evolving history to count on. Being able to predict how industries will react to rapidly evolving technology is hard enough, but it becomes even more difficult if they are relatively new industries as well.

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This dissertation has been inspired by a desire to conduct a novel assessment on this market.

What is Genome Sequencing?

The Genome Sequencing Industry: Boom or Bust?

An expositary look at the current state and future potential of the genome sequencing industry and an analysis of potential barriers.

What is the genome and what is the technology behind the industry?

What is the current state of the industry?(industry lifecycle)

Where is the industry going?(industry lifecycle stages)

What are the potential barriers to industry sucess?

How important are theese potential barriers?

The Vision

A Brief History of Genome Sequencing

The Human Genome Project

The Technology

The Differentiators

The Rate of Advancement

The XPrize

Background Market Data

Key Players

Key Markets

Key Issues


What is Genome Sequencing?

The genome is the complete set of genes or genetic material present in a cell or organism (Cambridge, 2008). This genetic material is contained within Deoxyribonucleic acid (DNA) and holds all of the biological information this is needed to build and maintain a living example of that organism (National Center for Biotechnology Information, 2004).

The genome is built up of over 3.4 Billion base pairs with each base pair consisting of a nucleobase of either Adenine(A), Guanine(G), Cytosine(C) and Thymine(T) (J.D Watson, 1953) (, 2011) By working out the sequence in which these nucleobase's are arranged it is possible to gather information relating to the organism. This information currently has its main uses in Molecular Medicine where it can be used for;

Improved diagnosis of disease

Earlier detection of genetic predispositions to disease

Rational drug design

Gene therapy and control systems for drugs

Pharmacogenomics "custom drugs"

It also has other uses in the fields of DNA Forensics, agriculture, energy, risk assessment and evolution. (Oak Ridge National Laboratory, 2009) (National Human Genome Research Institute, 2011).

The Vision

The current ultimate goal of genome sequencing is Personalised Medicine. This is where a consumer would be able to directly walk into his physicians and review information relating to his genetics. This information could then be used by his physician to advise him on particular preventable medicines for conditions that they are not even showing symptoms for yet, but has shown susceptibility towards in there genome results. This could potentially revolutionise healthcare by providing a new level of diagnosis (XPrize, 2011).

To achieve this goal; firstly the cost of sequencing must be reduced enough for it to be attainable by the mass market, once this has happened direct to consumer sequencing will take off. From this point it is dependent on the advancement of bioinformatics to process the genome and deliver an accurate diagnosis (Trust Sanger Institute, 2011).

A Brief History of Genome Sequencing

The first ever method to fully sequence an organism's genome was discovered by Frederick Sanger in 1977 which earned him a Nobel Prize. Sanger managed to sequence a bacteriophage that had 5386 base's (single stranded) using biochemical methods which are still widely used today (Sanger, 1977) (454 Life Sciences, 2009). After this discovery there were various new breakthroughs with new methods and improvements made from scientists all across the globe, most notably;

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Maxam and Gilbert's 1977 paper called "A new method for sequencing DNA"

Mullis's 1983 discovery of Polymerase Chain Reactions.

Hood's 1986 announcement of the first semi-automated DNA sequencing Machine.

Applied Biosystems in 1987 markets the first automated sequencing machine.

It would take a further 20 years from Sanger's original discovery until sequencing technology had advanced enough in quality and speed before the scientific community where able to confront their biggest challenge.

(AM Maxam, 1977) (454 Life Sciences, 2009) (Bartlett, 2003)

The Human Genome Project

The human genome project began in 1989 as an ambitious multinational $3 Billion dollar research program funded by the US Department of Energy and the US National Institute for Health to completely sequence the first whole human genome. The project successfully released a first draft in 2000 and completed the final draft in 2003 (Internation Human Genome Sequencing Consortium, 2004). Before the completion of the first draft of the human genome in 2000 an announcement made jointly by then President Bill Clinton and then Prime Minister Tony Blair stating that the genome sequence would not be allowed to be patented and would be made freely available to all researchers (National Human Genome Research Institute, 2000). This announcement is estimated to have cut over $50 billion in market capitalization from the biotechnology industry in less than 2 days (Marshall, 2000) (Berenson, 2000) (Bastin, 2002). It is notable that the first 10 percent of the genome took over half of the project to complete and that the last 90% was done after, this is due to the rapid improvement of technology driven by competition. (Internation Human Genome Sequencing Consortium, 2004).

The Technology

Since the completion of the human genome project and the respective research that has been made available to researchers globally, there has been an expanding market for machines that can sequence a genome within the confines of a laboratory (Metzker, 2010). The systems themselves can be generalised to First Generation Sequencing (FGS), Second Generation Sequencing (SGS) and Third/Next Generation Sequencing (NGS) (Morozovaa, 2008) (Mardis, 2008) (Metzker, 2010).

First Generation Systems, also called Sanger Sequencing machines were first made available in the 1987 originally with the launch of Applied Biosystems ABI 370 sequencer, this machine was able to sequence a up to a thousand base pairs per day (National Human Genome Research Institute, 2011). The advent of second generation sequencing machines in 2000 saw a price/performance growth of approximately 6 magnitudes (Mardis, 2008). The first NGS was made available by Illumina systems in 2008 and is called the HiSeq 2000 and is capable of sequencing two genomes for less than $10,000. This is a further magnitude increase of approximately 5 (Illumina, 2008). (do actual bases growth instead)

Jonathan Rothberg (how ref?) who runs two of the industry's key players and has been instrumental in the development of sequencing technologies has drawn parallels to the current development of genome sequencing and the semiconductor industry of the 1970's, He suggests that genome sequencing systems of today can be compared to the systems of the 1970s with FGS as mainframes, SGS as mini computers and NGS as Personal Computers (PCs) (Rothberg, 2009). He even goes on to state that "sequencing is evolving in parallel with computing more than I ever imagined".

What Differentiates?


The quality of a DNA sequence is in respect to the amount of errant bases that are reported in the sequence. Quality is usually measured in the form of a percentage of accurate reads and generally the lower the quality, the more times the genome must be sequenced (run) to gather an accurate read. The more amounts of "runs" that have to be done the more costly the process becomes. (National Human Genome Research Institute, 2011) (Jeremy Schmutz, 2004)

Complexity of Sample Preparation

Prior to Sequencing, a sample must be prepared in a manner that is dependent on the method of sequencing used. This preparation is usually to generate multiple copies of the sample and has various error rates associated with different methods. The more complex the sample preparation is, the less cost effective it becomes. (Mardis, 2008)


The readlength of a Genome sequencing platform is a representative of how many bases can be read in once. The higher the readlength the more accurate the results, this is because with shorter readlength's it is allot harder to pinpoint where the read has taken place along a genome sequence, therefore requiring more runs to produce an accurate result. For example, if there is 3 billion bases to be read and there is a readlength of only 10 then due to the amount of duplicates in a genome, it would be increasingly hard to pinpoint the location of the read because of the sheer amount of duplicates. With larger readlength's this becomes less of a problem because there are less duplicates. (Oak Ridge National Laboratory, 2009)

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The throughput is respective to how many parallel reads can be done at once. For example, a throughput of 10 would be able to produce 10 reads instead of the usual 1 in the same time. High-throughput sequencing is a main factor in the development of next generation sequencing technologies and is seen as the best way to bring down costs (Hall, 2007) (Church, 2006).

The Rate of Advancement (trends)

Numerous researchers have made parallels between the price/performance improvements in genome sequencing platforms and Moore's law (Rothberg, 2009) (Mardis, 2008) (Shendure, 2004) (Pettersson, 2009). Moore's law was developed by Gordon Moore and states that the number of transistors in a chip will double about every two years (Intel, 2011).

While Moore's law is applicable to nearly all integrated electronic devices (Moore, 2006) recent figures released by the National Human Genome Research Institute(need ref) show a price performance increase much greater than Moore's law (National Human Genome Research Institute, 2011).

This price performance improvement has seen companies like Applied Bioscience achieve a 6 fold increase in price performance in the last 12 months; this increase has also been shown by Complete Genomics who sequenced 1000 genomes in 2009 and over 10 times that in 2010. (Applied Bioscience, 2010) (Complete Genomics, 2010)

The Archon XPrize

The Archon X Prize for Genomics was started in 2006 and offers a $10 million dollar reward for the first team to successfully "build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome" (XPrize, 2011).

While the monetary benefit for winning the XPrize is negligible compared to the cost of developing an improved system (Rothberg, 2009) , The XPrize requirements are seen by key researchers as the best direction for advancement in sequencing technology, the benchmark for mass commercialization and the most likely successor to NGS (Venter, 2010).

There are currently 9 teams entered into the XPrize (XPrize, 2011), and while the prize has not been claimed yet, it is believed by some researchers that the breakthrough will be within the next 2 years (Kedes, 2010) (Venter, 2010).

Background Market Data

The worldwide market for sequencing products will grow from an estimated $1.3 billion in 2010 to more than $3.3 billion by 2015, a compound annual growth rate (CAGR) of 20.5% over the next 5 years.

Life-science research and drug discovery and development applications represent the two largest markets for DNA sequencing revenues, accounting for an estimated $920.1 million in 2010.  These markets are forecast to grow at a compound annual growth rate (CAGR) of 13% to reach nearly $1.7 billion in 2015.

Emerging applications, including personal genomics and clinical diagnostics, are forecast to account for $541.4 million by the year 2015, an increase from $15.5 million in 2010 representing a 103.5% compound annual growth rate (CAGR).

(BCC Research, 2010)














Life Technologies




Complete Genomics








Key Players














Life Technologies




Complete Genomics









Illumina was founded in 1998 and started out by offering genotyping services until 2002 when it released the Illumina BeadLab, the company's first genome sequencing system (Illumina, 2006). It took illumina over 8 years to make it first profit but that hasn't stopped it from becoming one of the industry's biggest players after the acquisition of Solexa in 2006 (NYTimes, 2006).

Illumina's currently the supplier of some of the world's biggest institute's (Beijing Genomics Institute, 2011) (National Human Genome Research Institute, 2011) (Investors Business Daily, 2011) and holds the record for the most cost effective full genome sequence, it is also the market leader in next generation sequencing systems that are paving the way for future commercialisation (Forbes, 2010).

Illumina believes the future of the market is in smaller devices that can operate in a physician's office and has recently tied an exclusive licencing agreement with Oxford Nanopore Technologies, an industry start-up with allot of potential (Illumina, 2009). Illumina has also been called the "the apple of the biotech industry" by an analyst because of its constant upgrade of its product line before its old product line is out-dated (Investors Business Daily, 2011).

Life Technologies

Life technologies was once the biggest and almost the sole provider of genome sequencing systems until the release of next generation systems that has seen its market share slide to a mere 17% (Herper, 2010). Its inability to compete with the newer providers from a technological standpoint has seen most of its institutional buyers switch to newer machines (Metzker, 2010).

This hasn't stopped Life Technologies though; they have recently acquired Ion Torrent, one of the industry's most promising start-ups for $375 million, with an increase to $725 million on the achievement of certain technical and time-based milestones through 2012 (Life Technologies, 2010).

This acquisition will see Life Technologies take a different approach from its usual mainframe style systems to small inexpensive systems for smaller organisations (Genomeweb, 2010) (Life Technologies, 2010). This market while showing huge potential for the future (BCC Research, 2010), is a very small share compared to the institutions that it used to serve and is seen as a very risky venture that could potentially put it on a collision course with its biggest rival illumina (Genomeweb, 2010).

Complete Genomics

Complete Genomics was founded in 2006 and like many biotech start-ups is yet to make a profit. Complete genomics has taken a different approach to DNA Sequencing and has used its platform to provide an outsourcing service where organisations mail in there samples to its huge mega complex in Mountain View, California (Complete Genomics, 2011).

Complete Genomics has gone from producing only 1 genome a year in 2006 to being able to produce over 1000 a month by the end of 2011 (bio-itworld, 2011). It sees the future of the industry with organisation's outsourcing there sequencing needs to company's like Complete Genomics and has managed to pick up customers such as Genentech, Pfizer and Lilly along the way (Complete Genomics, 2011). It is also claimed in an interview with a leading Biotech magazine that will drop its prices for a full genome to sub $10,000 in 2011 (bio-itworld, 2011).

Helicos Biosciences

Helicos Biosciences came into the market with the first single-molecule, next generation sequencing platform (Helicos Biosciences, 2011). Unfortunately, it has been unable to capitalize on its first mover's advantage as it is rapidly burning through its cash reserves as it struggles to boost sales.

Helicos issue's range from its technology producing too high of an error rate to its market selection, where it has attempted to target the high end of the research market, a segment where its technology does not offer good value for money at a 100% premium to its competitors (Gerson Lehrman Group, 2010).

Helicos has had to do some serious restructuring to stay alive (Helicos Biosciences, 2011) and is now deviating its strategy away from the high-end market and refocusing on smaller markets such as the clinical diagnostics market (Genomeweb, 2010).

Even with the change it strategy, the arrival of more competitors to the market will only make it harder for Helicos to achieve any form of competitive advantage. Helicos has announced that it needs to raise a substantial amount of capital in 2011 to continue to operate and could well be one of the first major start-up failures of genome sequencing (Gerson Lehrman Group, 2010).

Key Markets

Life Sciences Research

The Life Sciences research market consists of laboratories usually associated with universities, medical research centres, government institutions and pharmaceutical companies that are involved in the scientific study of living organisms (Illumina, 2011). These laboratories are currently the largest set of buyers for next generation sequencing technologies and also make up the largest of the markets available (BCC Research, 2010).

Clinical Diagnostics Markets

The Clinical Diagnostics markets represent institutions that are involved in the research of the genome for benefit of medical diagnosis. This market is heavily legislated and represents enormous social and ethical challenges for the future (Illumina, 2011). The key segment in this market is molecular diagnostics which aims to pave the way for future personal medicines (Trust Sanger Institute, 2011).

Consumer Genomics

A relatively new market, Consumer Genomics is the market for smaller more efficient products for use in physicians or hospitals or even direct to consumer sequencing. Consumer Genomics is a nascent market, but one that is believed to have extremely high growth potential as the cost per genome continues to fall (Illumina, 2011).

The consumer genomics market is also another market that is slowly becoming very heavily regulated due once again to serious ethical and social concerns from governments (Genomeweb, 2010).

Current potential? From article? About 60 billion

Applied Markets

Applied markets consist of markets that are not directly related to genomics, these markets see applications in industries such as DNA Forensics, energy, risk assessment and evolution (National Human Genome Research Institute, 2011). While this is the smallest market it is notable that its biggest segment is "agbio" markets which relates to the enhancement of agricultural research (Illumina, 2011).

The Issues

Ethical and Social

Genetic Discrimination is where an individual is treated differently due to the outcome of their genetic results. For example, an individual may be refused life insurance if the outcomes of his test results showed he was likely to die soon, or, if an employer would refuse to employ someone because there was an indicator in their genetic results that they might have to take allot of sick leave (National Institute of Health, 2011). While there have been numerous pieces of legislation put in place to prevent this from happening (National Human Genome Research Institute, 2011), there are clearly legislative gaps that will be blown open as more people have their genomes sequenced and more organisations look for novel ways to use this genomic information (National Institute of Health, 2011). There is no doubt that legislators will try and fill these gaps, but to what extent is unknown.

Another key issue is that of the psychological impact and stigmatization resulting from people with genetic differences (Oak Ridge National Laboratory, 2011). These issues arise from how a person's genetic results would affect the individual and also how society's perceptions of that individual might change. For example, if an individual found out that they were very likely to obtain a life threatening disease when they were older this might significantly change them as a person; this may also change the attitudes of people towards this person. While some abuses of this would fall under the genetic discrimination legislation, it will be nearly impossible for society to prevent the psychological impact the results could have on individuals and people around them. This could lead to a large number of people refusing to have their genome sequenced by taking the attitude of "ignorance is bliss".

Another major issue is that of data privacy (Oak Ridge National Laboratory, 2011). With genetic information potentially being the ultimate form of identification a key problem arises with how organisations will handle this information and how individuals want their information shared. A number of research institutes are pleading with individuals to make their genomic information anonymous, but public, for the betterment of analysis and for the study of population genomics. The main issue arises because even if a genome sequence is made anonymous, advents in forensic technologies can identify a genomic sequence with their respective individual (Homer N, 2008). , which in turn has now left some researchers to proclaim the limitations, if not the death of privacy in genomics. (Lunshof JE, 2008). This loophole is a serious issue for future researchers and the public. If the public know that there anonymity is not completely anonymous this could severely reduce the amount of data available to researchers and subsequently slow down research, it could also provide serious legal issues for companies who have made available a person's data on the agreement of anonymity to find that they have been identified. (Knoppers, 2010).

Finally the accuracy of data and how it is presented to consumers is another major issue. All genomic results relating to disease susceptibility are probabilistic in nature (National Human Genome Research Institute, 2011), this coupled with a high number of false-positives caused by some sequencing technologies has caused legislators to heavily regulate how the first wave of direct to consumer genomic sequencing companies are attracting consumers and representing there genomics information (Shannon, 2009) (U.S Food and Drug Administration, 2010). Such regulation includes the requirement for only a physician to interpret the information to the consumer and for all services to require pre-market approval. This regulation has proved unsavoury for some companies such as Pathway Genomics, Navigenics and Counsyl who due to the new regulations have chosen to pull out of the market entirely (NewScientist, 2010) (Genomes Unzipped, 2010). This regulation is brought on by the increasing number of scam websites who claim the ability to do things that are currently not possible with current genome sequencing and informatics technologies. Unfortunately, a recent congressional hearing on direct to consumer genomics left congress to state that they were "unable to distinguish from the scammers and the legitimate companies" (Committee on Energy and Commerce, 2010), this mistrust will only fuel more legislation in an industry that is already under heavy scrutiny.mygeneprofile.jpg

Technology Push vs Market Pull

There have been numerous pieces of research into what is more influential to the evolution of an industry; either the technology push or the market pull. The concept of technology push is that innovation begins when an employee (usually a scientist or an engineer) sees an opportunity for a technical possibility and tries to capitalize on it, in the hope that it will be desirable to consumers (Morris, 2008), while the market pull approach says that innovation should be motivated by the unmet needs of consumers (Martin, 2003). It is notable that the sheer amount of support for both sides is a good indicator that neither of these are exclusively the best methods to drive innovation in an industry, and that the best method is a combination of both. To what extent of the combination is reliant on a number of internal and external factors such as the intensity of competition, the stage the industry is at in its lifecycle and how much demand there is for the innovation. By finding out what is the primary force driving innovation in an industry it becomes easier to measure how influential certain issues will be to the development of the industry.

Industry Lifecycle

An industry lifecycle is a useful tool for analysing the effects of industry evolution on competitive forces and for assessing the different stages of growth industries go through (Hill, 2009). The industry lifecycle concept splits an industry into four different stages; Emergence, Growth, Maturity and Decline (Kotler, 2009). The concept is that every industry will follow these for stages from start to end over any period of time. An adaption by Hine and Kapeleris to the industry lifecycle model will also be useful; this adaption is an expansion of the emergence phase specific to the biotechnology industry (Damian Hine, 2006). This modification of the industry life cycle model shows that in the biotechnology industry each "product/business lifecycle impinges on the other and can't be considered constant" and that "change is dynamic and constant, as the external influences are potent". Hine and Kapeleris(2006) states that the key industry influences to this change are political/legal, social/cultural, technological, economical, intellectual property and competition while the key firm influences are collaboration, intellectual property, funding and there exit strategy. By working out the extent of these influences combined with the ability of organisations to combat this change will be a key indicator to assess whether the industry will be able to prosper in the future.


STEEPLE, which is an acronym for Social, Technological, Environmental, Economical, Political, Legal and Ethical, is a framework of environmental factors to help in strategic planning to scan for specific environmental issues. Aguilar(1967*) was the first to discuss environmental scanning and defined it as the process that seeks "information about events and relationships in a company's outside environment, the knowledge of which would assist top management in its task for charting the company's future course of action". The external environment can be split into the macro environment and the micro environment. The micro environment deals with suppliers, buyers and any other interest group that the firm operates with, while the macro environment focuses on the demographic, economic, physical, technological, political-legal, and social-cultural forces (Kotler, 2006). The STEEPLE framework will be addressing the macro environmental factors; this will help to provide an understanding of the wider issues impacting the industry by assigning each issue the specific sections of the framework to make them easier for analysis.

Porters Five Forces


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Porters Five Forces is a framework to conduct a micro environmental industry analysis. Porter's five forces analysis can be used to identify the forces that affect the intensity of competition in an industry (Johnson and Scholes, 1999*). Porter (2004*) states the following five forces; the competitive rivalry, the threat of substitutes, the power of suppliers, the power of buyers and the threats of entry, is the basis for competition and also the main factors businesses need to take into account to gain a competitive advantage. It is also possible to combine all these factors by to make an adequate overall judgement on industries attractiveness. This tool will be useful as once each of the forces has been investigated, they can be cross examined against any macro environmental influences to assess the impact they will have upon the micro environment and the general attractiveness of the industry.

Intellectual Property

In every technology based industry intellectual property plays a key role in a company's success. It is necessary for an organisation to protect is innovations with a solid foundation of intellectual property otherwise it could lose any competitive advantage created by innovation. It is also just as important that companies are aware of any existing intellectual property within its technology space as not to infringe upon any other companies rights and therefore not to waste time and money in research and development and hefty court cases.