Illumina: Unlocking the Power of the Human Genome

The human body is an incredibly complex and amazing entity. No two people are exactly alike because no one two people have identical DNA. The human genome is the complete set of genetic information encoded as DNA sequences in 23 chromosome pairs. These chromosome pairs found in the nucleus of a cell are microscopic, yet vital to our existence. DNA is the building block for humans, and something as simple as a double helix has the ability to control all of our genetic programing. Because DNA is so crucial in determining characteristics of people, from something as simple as height and eye color, to something much more complicated like a predisposition to cancer, science has made a focused effort to learn as much as possible about the human genome, with hope information gained will allow people to live longer, healthier and better lives.

This field of genomics has only been around for about thirty years, with massive strides made over the past twenty. The industry leader in developing and manufacturing life science tools and systems is Illumina. Based in San Diego, California, and founded in April of 1998, they have grown dramatically over the past five years, with a compound annual growth rate for revenue of over 23%. (Bloomberg) This ability to increase top line revenue has cultivated excellent returns for shareholders, as the stock has returned 389.33% since March 31, 2010, an annualized return of 37.64%. To put this number in context, the S&P 500 index has only returned 298.39%, or 32.09% when annualized, and this has been one of the greatest bull markets in history. (Bloomberg) A $10,000 dollar investment in Illumina on March 31, 2010 would give you a little under $50,000 today at today’s current share price. Economists like Milton Friedman would praise this dedication to creating value for a firm’s shareholders, as he argues “There is one and only one social responsibility of a business – to use its resources and engage in activities designed to increase its profits.” (Friedman, 227). However, social scientists like Ed Freeman would argue a company has a responsibility to all stakeholders, not just shareowners. Can a company somehow reward both groups, generating returns greater than the market average for shareowners, while also making the world a better place? This is the case with Illumina, as their stock price has performed fantastically, but they are also providing potential life-saving technology and information to the world.

To begin to understand Illumina and their commitment to transforming health care, a basic understanding is needed for what unlocking the human genome means. All living organisms have a blueprint for their lives encoded into their cells called deoxyribonucleic acid, or DNA. A complete set of DNA for an organism is called a genome. DNA has many small regions called genes, which appear in a double helix of nucleotide bases. There are four of these bases, called adenine, cytosine, guanine and thymine, or A, C, G and T. Together, different combinations of these bases control every genetic factor of a living creature, including humans. Differing DNA sequences cause variations between organisms. “Changes can result from insertions, deletions, inversions, translocations or duplications of nucleotide bases.” (Illumina 2014 10-K, 5) (See exhibit 1 at end of paper for a picture of DNA.)

These genetic variations have many effects on humans, from simple physical appearance traits, such as height and eye color; to much more sophisticated medical consequences, like predisposition to cancer, diabetes, heart disease and Alzheimer’s. “They can also affect individual response to certain drug treatments, causing patients to experience adverse side effects, or to respond well or not at all.” (Illumina 2014 10-K, 5) Illumina uses their scientific capabilities to facilitate the studies of these issues in universities, pharmaceutical and biotechnology labs, and governments around the world. Operating in five principal markets, Life Sciences, Reproductive and Genetic Health, Oncology, Enterprise Informatics and New and Emerging Opportunities, Illumina is committed to unlocking the human genome to transform healthcare and beyond. “By empowering genetic analysis and facilitating a deeper understanding of genetic variation and function, our tools advance disease research, drug development, and the creation of molecular diagnostic tests. We believe that this will trigger a fundamental shift in the practice of medicine and health care. The increased emphasis on preventative and predictive molecular medicine will usher in the era of precision health care.” (Illumina 2014 10-K, 5) Essentially, Illumina is studying the human genome with the hope of being able to identify what genetic traits offer a predisposition to certain diseases, and using this information derived from the human genome to tailor health care solutions built for the individual with the goal of improving lives. The video below provides a more technical breakdown of Illumina’s process of sequencing technology. 

Illumina’s Life Sciences business focuses on providing laboratories at universities, biotechnology companies, governments from around the world and pharmaceutical firms of all sizes with products across a wide spectrum designed for analysis and research of the human genome. Some examples are genetic variation analysis, gene expression analysis and targeted screening. Illumina’s second business segment, Reproductive and Genetic Health, serves a slightly different market. Here, preimplementation genetic screenings can be used to test in-vitro fertilization embryos for an abnormal number of chromosomes. The Oncology principal market focuses on discovering the genomic roots of cancer, and why a normal cell becomes a cancerous one. This area hopes to improve diagnosis and treatment for cancer, and is an area Illumina is making large strides. Enterprise Informatics allow for greater use of genome data generated by customers by aggregating, analyzing and sharing information discovered. Finally, New and Emerging Opportunities focuses on several next-generation genomic applications, like transplant diagnostics to assess compatibility for transfer patients, forensic genomics used in solving crimes and consumer genomics, which reveals ancestral information. These five segments combine to give Illumina incredible growth potential and the capability to transform lives. Their ability to develop, manufacture and sell integrated systems for the analysis of genetic variation and biological function will change the way health care operates.

Illumina is well regarded from an investment standpoint and from an innovation standpoint. S&P Capital IQ speaks favorably in their research report on the firm, saying about Illumina, “Analyzing and understanding genetic variation and function are critical to the development of personalized medicine, a key goal of genomics. … Illumina’s tools assist researchers in processing the billions of tests necessary to convert raw genetic data into medically valuable information to improve drugs and therapies, customize diagnoses and treatment, and potentially cure diseases.” (S&P Capital Research Report) Of the 28 analysts who cover Illumina on Bloomberg, 19 analysts rate shares of Illumina a buy right now, and have a 12-month return potential of 20% for shares. (See Exhibit 2) However, Illumina is also well regarded by publications like Forbes, who rank Illumina as the 36th most innovative company in the world in their most recent rankings based on August 2014 data. With customers ranging from genomic research centers, academic institutions, government laboratories and clinical research organizations, Illumina is a rare company capable of rewarding shareholders and stakeholders.

An example of Illumina helping people is their DNA test for identifying fetal chromosome abnormalities. This test, noninvasive prenatal testing using cell free DNA, “significantly reduced the rate of false positive results and had significantly higher positive predictive values for the detection of fetal trisomies 21 and 18” (Women’s Health Weekly) when compared to standard screening methods. The team of scientists, led by Dr. Diana Bianchi, found Illumina’s cell free DNA test “had a ten-fold improvement in the positive predictive value for trisomy 21, commonly known as Down syndrome, compared to standard prenatal aneuploidy screening methods.” (Women’s Health Weekly)  Another practical application of Illumina’s technology is from a 2013 study conducted at Duke University, where information was gained about the specific genes contributing to ovarian cancer. Though this is a little technical, “The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.” (Study Data from Duke University), it provides medical professionals a greater knowledge of what causes ovarian cancer, and where they should look for mutations to DNA. This information is something researchers can take and use to design better treatments for ovarian cancer, and hopefully prevent it.

Overall, Illumina, as they say on their website, is at the intersection of biology and technology. They simply sum up what they do as “At the most fundamental level, we enable our customers to read and understand genetic variations. We strive to make our solutions increasingly simple, more accessible, and always reliable.” (Illumina Company Website) Only 25 years after the human genome project began and ten years after all three billion base pairs in human DNA were read, people now have accessibility to reading their entire DNA. This will “be cheap enough to be used regularly for pinpointing medical problems and identifying treatments. This will be an enormous business, and one company dominates it: Illumina.” (Zimmerman)  However, there are serious ethical implications that must be considered with such a powerful tool as analyzing a person’s entire DNA.

People never know how exactly how long they have to live. This is both a blessing and a curse. People can always say they would do something different, something they had always dreamed of if they know exactly how much longer they have to live. On the flip side, it would be incredibly stressful waking up knowing exactly how long the clock ticking on your life has before it hits zero. Illumina’s technology hasn’t reached this capability yet, but it has life-changing implications that can identify someone’s predisposition to cancer, cardiovascular disease, or see if an embryo has Down syndrome.  Based on the immense power this technology wields, serious ethical thinking is needed to determine how to apply it.

My opinion is a consequentialism view of ethics should be applied. As defined on the Internet Encyclopedia of Philosophy, “Consequentialism is the view that morality is all about producing the right kinds of overall consequences.” (Internet Encyclopedia of Philosophy) To boil this point down further, “if you think the whole point of morality is (a) to spread happiness and relieve suffering, or (b) to create as much freedom as possible in the world, or (c) to promote the survival of our species, then you accept consequentialism.” (Internet Encyclopedia of Philosophy). I believe Illumina’s goals as a company fit perfectly with points a and c above. Their objective is to provide people with information on their genetics, and offer solutions, providing personalized medical solutions. I think people are happier with a greater knowledge of their health, and can better tailor their lives to mitigate genetic risk. For example, if someone finds out they have a genetic predisposition to cardiovascular disease later in life, they can make preventative changes now to help keep their heart as fit as possible. They can make a more conscientious effort to exercise for an hour a day, not use tobacco products and eat a balanced, healthy diet. Illumina clearly is also working to promote the survival of the human species, as unlocking the human genome will enable better customized medical treatments for people in the near term, and eventually strives to eradicate diseases like cancer.

Another area Illumina has applied consequentialism to their work is improving the number of false positive tests. These can be immensely stressful and hurt people’s overall quality of life. If a person falsely believes they have a genetic predisposition to ovarian cancer, it may cause them to do something dramatic like have surgery to remove their ovaries, like Angelina Jolie. Another example where a false positive test may present an even broader problem is beginning to genetically engineer children. As mentioned earlier, Illumina provides a test to tell if a child is likely to have Down syndrome prior to in-vitro fertilization. This establishes a dangerous precedent of allowing parents to pick and choose the qualities their child has. However, this test also provides parents the benefit of knowing their child likely will have Down syndrome and gives them nine months to prepare themselves to have a wonderful child who may be slightly different than what they had expected. In this sense, Illumina is providing parents a great service. Their tests also dramatically decrease the rate of false positives, so parents are dealing with more accurate information, enabling them to have greater confidence and plan accordingly.

Overall, I believe Illumina’s tests and preventative medicine with customized solutions for people will revolutionize the world. I think they will provide people with better information on their genetic predisposition, allowing them to make decisions accordingly. Though I don’t think anyone should be required to submit to genetic testing, it should be a choice made by an individual, not something mandated by an employer or health care company, people can better understand their genetic risks if they chose. The information Illumina provides undoubtedly spreads happiness and relieves suffering on a macro scale, as it can save lives. These risks outweigh the downsides of false positives and genetic engineering, in my opinion, hence the consequentialist attitude towards Illumina. Perhaps even more important, Illumina is working to promote the survival of the human species and has the power to transform medicine as is becomes more preventative and precise. Humans will become healthier and live longer thanks to Illumina, making them a rare company providing society as a whole a large benefit, while also creating substantial value for shareholders. This is a company I admire and am excited to see what the future holds.

Works Cited:

Study Data from Duke University Update Knowledge of Ovarian Cancer.” Women’s Health Weekly 16 May 2013: 118. Global Issues In Context. Web. 30 Mar. 2015.

DNA test better than standard screens in identifying fetal chromosome abnormalities.” Women’s Health Weekly 13 Mar. 2014: 64. Global Issues In Context. Web. 31 Mar. 2015.

Illumina Corporation. (2014). Annual Report 2014. Retrieved from

“Corporate Fact Sheet.” Illumina. N.p., n.d. Web. 31 Mar. 2015.

Loo, Jeffrey. “S&P Capital IQ NetAdvantage.” S&P Capital IQ NetAdvantage. McGraw Hill Financial, 14 Oct. 2014. Web. 31 Mar. 2015.

“Illumina.” Forbes. Forbes Magazine, n.d. Web. 31 Mar. 2015.

Zimmerman, Eilene. “Why Illumina Is No. 1.” Technology Review. N.p., 14 Feb. 2014. Web. 31 Mar. 2015.

“Internet Encyclopedia of Philosophy.” Internet Encyclopedia of Philosophy. N.p., n.d. Web. 31 Mar. 2015.

Friedman, Milton. “The Social Responsibility of Business is to Increase Its Profits,”      New York Times Magazine 32 (September 13, 1970).


2 thoughts on “Illumina: Unlocking the Power of the Human Genome”

  1. I would like to see a more thorough analysis of the costs and benefits of individualized genetic-based treatments. For example, the basics of health insurance rely on a certain amount of IGNORANCE. Risk pooling works because each person pays into insurance LESS than what they would pay if they paid market value for services needed.

    If insurers could perfectly, or very close-to-perfectly price discriminate, then the whole business model of insurance collapses.

    I am not saying that is negative overall. But, it may force us to rethink the provision and economics of health care.


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