Please wait while the search results are loading...

Patients’ Genetic Profiles Plummet in Price as DNA Sequencing Technologies Advance, Business and Industry Trends Analysis

Scientists now believe that nearly all diseases have at least some genetic component.  For example, some people have a genetic predisposition for breast cancer or heart disease.  The understanding of human genetics is hoped to lead to breakthroughs in therapies for many illnesses.  Organizations worldwide are experimenting with personalized drugs that are designed to provide appropriate therapies based on a patient’s personal genetic makeup or their lack of specific genes.
The DNA sequencing (genetic testing) of the genes within a patient is the process of determining the order of DNA nucleotides, or bases, in the genome—that is, the entire DNA makeup of the patient.  The nucleotides are described on the order of A, C, G and T.  The human genome consists of about 3 billion of these genetic letters.  Once the genome has been sequenced, much work remains to be done for fully understanding human genetics.  Scientists must analyze and translate the strings of A, C, G and T into usable knowledge, which requires sophisticated analytical software.
DNA sequencing was first achieved in 2001 at a cost of about $100 million per genome (one patient’s entire genetic makeup).  Prices have fallen to extremely low levels today, in the $100 to $200 range for a  nearly complete genome, as the speed and power of the equipment that does this work has advanced significantly.  The genome sequencing market is led by Illumina, Inc., a San Diego, California-based company.  Competitors include Ultima, PierianDX, Thermo Fisher Scientific, Complete Genomics and BGI, formerly the Beijing Genomics Institute.
The scientific community’s improving knowledge of genes and the role they play in disease is leading to several different tracks for improved treatment results.  One track is to profile a patient’s genetic makeup for a better understanding of a) which drugs a patient may respond to effectively, and b) whether certain defective genes reside in a patient and are causing a patient’s disease or illness.  
For example, the immunotherapy Keytruda is extremely effective for certain cancer patients who match the required genetic profile.  Yet another application of genetic profiling is to study how a patient is able to metabolize medication, which could help significantly when deciding upon proper dosage.  The use of specific medications based on a patient’s genetic profile could greatly boost treatment results while cutting costs.  Each year, by one count, 2.2 million Americans suffer side effects from prescription drugs.  Of those, more than 100,000 die, making adverse drug reaction a leading cause of death in the U.S.  A Journal of the American Medical Association study states that the annual cost of treating these drug reactions totals $4 billion each year.
Drugs that target the genetic origins of tumors may offer more effective, longer lasting and far less toxic alternatives to conventional chemotherapy and radiation.  In other cases, biotech drugs, used in combination with surgery or chemotherapy, can reduce the chance of a cancer recurrence.  One of the most noted drugs that target specific genetic action is Herceptin, a monoclonal antibody that was developed by Genentech.  Approved by the FDA in 1998, Herceptin, when used in conjunction with chemotherapy, significantly reduces breast cancer for certain patients who are known to “overexpress” the HER2 protein (that is, there is an excess of HER2-related protein on tumor cell surfaces, or there is an excess of the HER2 gene itself).  A simple test is used to determine if this gene is present in the patient.  Herceptin, which works by blocking genetic signals, thus preventing the growth of cancerous cells, may show potential in treating other types of cancer, such as ovarian, pancreatic or prostate cancer.
Another genetic test is marketed by Exact Sciences, formerly Genomic Health, ( ).  Its Oncotype DX test provides breast cancer patients with an assessment of the likelihood of the recurrence of their cancer based on the expression of 21 different genes in a tumor.  The test enables patients to evaluate the results they may expect from post-operative therapies such as Tamoxifen or chemotherapy.  As of mid-2020, more than 1 million patients had been tested worldwide.  The firm also offers Cologuard test for colon cancer.
The industry has moved onto what is commonly referred to as “Next Generation” sequencing of DNA.  That is, highly advanced hardware and software that can determine the DNA of a human sample with extremely rapid output and low cost.  This means that scientists worldwide will be able to conduct massive studies of human or other animal genetics at relatively affordable cost.
Another entry to the field of biotechnology is epigenetics, a branch of biology focused on gene “silencers,” which is used in a technique called “antisense.”  Scientists involved in epigenetics are studying the function within a gene that regulates whether that gene is operating at full capacity or is toned down to a lower level.  The level of operation of a given gene may lead to a higher risk of disease, such as certain types of cancer.  Epigenetics may be very effective in combatting abnormal gene expressions that cause cancer.  In early 2013, the FDA approved a drug called Kynamro, created by Isis Pharmaceuticals and marketed by Sanofi’s Genzyme.  Kynamro uses antisense to shut off genes that cause abnormally high blood pressure and heart attacks in young people less than 30 years of age.  Today, there are a number of epigenetic drugs on the market including Azacitidine, Decitabine, Vorinostat, Romidepsin and Ruxolitnub.
Meanwhile, the American Society of Clinical Oncology (ASCO) was running a Stage II clinical trial in mid-2022 called TAPUR that offers cancer patients a genetic test and then selects drugs that appear to be a good match, even if that drug was developed to treat a different kind of malignancy.  In a similar vein, the U.S. National Cancer Institute has a trial named MATCH which sends tumor biopsies to gene-testing laboratories to scan for more than 4,000 possible variants of 143 pertinent genes.

A Representative List of Organizations that Have Used our Research and Products:


I’m amazed at how much information is available and the various ways to access it. This will be a major resource for our serious job seekers.

Career Services, Penn State University

Plunkett Research Online provides a great ‘one stop shop’ for us to quickly come up to speed on major industries. It provides us with an overall analysis of the market, key statistics, and overviews of the major players in the industry in an online service that is fast, easy to navigate, and reliable.

Wendy Stotts, Manager, Carlson Companies

I really appreciate the depth you were able to get to so quickly (for our project). The team has looked through the material and are very happy with the data you pulled together.

Hilton Worldwide, Marketing Manager

We are especially trying to push Plunkett since all of our students have to do so much industry research and your interface is so easy to use.

Library Services, St. John’s College

We are especially trying to push Plunkett’s since all of our students have to do so much industry research and your interface is so easy to use.

Gary White, Business Materials Selector, Penn State University

Your tool is very comprehensive and immensely useful. The vertical marketing tool is very helpful, for it assists us in that venue, as well as targeting customers’ competition for new sales…The comprehensive material is absolutely fabulous. I am very impressed, I have to say!

Tammy Dalton, National Account Manager, MCI

The more I get into the database, the happier I am that we’ll have it–REALLY happy!!! Between the quality and affordability of your product, its appeal to and value for our users, and the inestimably ethical and loyalty-guaranteeing conduct of your business, I will always have more than sufficient praises to sing for Plunkett Research.

Michael Oppenheim, Collections & Reference Services, UCLA

Plunkett Research Online is an excellent resource…the database contains a wealth of useful data on sectors and companies, which is easy to search and well presented. Help and advice on how to conduct, export and save searches is available at all stages.

Penny Crossland, Editor, VIP Magazine
Real Time Web Analytics