Personal DNA Sequencing “More Affordable” at $48,000

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Illumina Corporation, a San Diego biotech firm, on June 16, 2009, announced the advent of relatively low-cost personal full DNA sequencing. For the low price of $48,000, you can have your entire DNA sequenced for use in detecting genetic diseases. Someday, that data may be useful for creating gene therapies and custom drugs to improve your health. $48,000 might sound like a lot of money, but it is really a bargain. Until this month, Illumina charged $96,000 for the same service.

Just several years ago, it cost billions of dollars and many years of work to get the same information. Consider the Human Genome Project to see how it took 13+ years and $3+ billion to sequence 92% of the human genome for the first time. Celera Genomics, founded by Craig Venter, developed shotgun DNA sequencing technology that brought down full DNA genome sequencing to $300 million and a few years, and companies like Illumina have improved and cost-reduced the technologies even further.

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Personal Full Genome Sequencing Price Expected to Fall Rapidly

This is by no means the end of the price erosion in DNA sequencing. Illumina’s CEO speculates that in several years, full genome DNA sequencing services may fall to even $1000 per person.

(from Illumina DNA sequencing available, if not affordable, to the consumer)

“Obviously it’s not a big market at $48,000,” said chief executive Jay Flatley, who announced the service yesterday at a Consumer Genetics show in Boston. “But it’s a price at which at least a few people will do this.”

The company hopes consumer genetics will help it build on the quick success it has achieved with research tools. Last year Illumina reported $50.5 million in net income as sales grew 56 percent to $573.2 million, making it one of San Diego’s largest biotech companies.

One other company, Massachusetts-based Knome, already offers a sequencing service but charges $99,000. Several companies also offer services, some for a few hundred dollars and in some cases using Illumina technology, that test for specific genetic markers that are linked to disease.

The advantage of a full genome sequence is that a patient need not undergo repeated tests for specific gene markers as more becomes understood about them, because the patient’s genetic information has already been captured.

Flatley doesn’t think the price will necessarily stay in five figures for long. “The $1,000 genome is not that many years away,” he said.

To demonstrate the potential, Flatley showed off a demo of an iPhone application a patient could use to display information on gene traits, disease risk and ancestry.

The company aims to have a fully functioning version of the application next year. That would make it easy for patients who’d had their genes sequenced to share information with medical providers.

DNA Sequencing Likely Will Become Routine

Given how widely used full-body CAT scans and MRI scans are being sold for similar prices, it would not surprise us if full DNA sequencing becomes a mainstay of medical care about a decade or two from now. While there’s no need to repeat the test yearly as with so many other tests, it may someday become a standard part of the birthing and neonatal care services provided by hospitals and doctors. By the time a baby born in 2020 has his or her first post-hospital newborn checkup, the parents may have a copy of his or her genome and information on related high-risk healthcare conditions.

Health Insurance Implications

Obviously, if it is fast and relatively inexpensive to sequence a person’s DNA and their genetic flaws can be uncovered, there are going to be serious considerations for how this impacts health insurance. The technology is moving so fast that it is important the laws ensure that it is used primarily for improving health care and not for making it impossible for people with genetic mutations or flaws to get health insurance coverage. Pre-existing condition exclusions and refusal to provide health coverage on the basis of health conditions must be banned by law. This technology should over time help make a profit by helping to make healthcare more effective for individual patients, and there should be a way for this savings to enable covering even people who have genetic health conditions.

Some legislation has already been passed to address these problems. The Genetic Information Nondiscrimination Act (GINA) is U.S. federal legislation that bans discrimination in health insurance and employment decisions using genetic information. GINA become law on May 21, 2008.

Many Companies In Personal DNA Testing Business

Illumina is not the only company in the personal DNA testing,and sequencing business. The company has several partners and competitors offering everything from common genetic disease tests to full DNA sequencing like Illumina’s service. One company in particular, 23andMe, is trying to make DNA testing for common genetic conditions inexpensive by offering $399 test kits. The customer’s whole DNA genome is not sequenced. Instead, snippets of DNA are examined for genetic traits that are understood and can be tested much more inexpensively than full sequencing. As 23andMe explains:

(from What is the difference between genotyping and sequencing?

Though you may hear both terms in reference to obtaining information about DNA, genotyping and sequencing refer to slightly different things.

Genotyping is the process of determining which genetic variants an individual possesses. Genotyping can be performed through a variety of different methods, depending on the variants of interest and resources available. At 23andMe, we look at SNPs, and a good way of looking at many SNPs in a single individual is a recently developed technology called a “DNA chip.”

Sequencing is a method used to determine the exact sequence of a certain length of DNA. Depending on the location, a given stretch may include some DNA that varies between individuals, like SNPs, in addition to regions that are constant. So sequencing is one way to genotype someone, but not the only way.

You might wonder, then, why we don’t just sequence everyone’s entire genome, and find every single genetic variant they possess. Unfortunately, sequencing technology has not yet progressed to the point where it is feasible to sequence an entire genome quickly and cheaply. It took the Human Genome Project over 10 years’ work by multiple labs to sequence the three billion base pair genomes of just a few individuals. For now, genotyping technologies such as those used by 23andMe provide an efficient and cost-effective way of obtaining more than enough genetic information for scientists—and you—to study.

Current Limitations

The DNA genotyping test results cannot yet be used to reliably diagnose very many medical conditions. Instead, they give clues to suggest further testing that would be warranted to look for the presence or likely development of certain diseases. Even full DNA sequencing cannot really diagnose much on its own yet. That’s because scientists still don’t know how many and which genes are involved in every biological process in the body. So while today they think there are 22 genes related to type 2 diabetes risk, in five years it may be they know of 70 such genes.

While your full DNA genome sequence may be useful for decades to come, it may be that right now it is simply not cost-effective to do such sequencing. That’s because the knowledge to make full use of the data isn’t available. But as fast as biotech is moving today, this is definitely an area to watch for developments that could impact the health of you and your family.

Some Companies in the DNA Testing, Genotyping, and Sequencing Industry

Illumina: Every Genome Tells a Story. What’s yours?

23andMe: genetics just got personal.

Knome: The first personal genomics company to offer complete genome sequencing and analysis services for private individuals.

deCODE Genetics: Empowering Prevention

deCODE Genetics: deCODEme Complete Scan


Further Reading

Illumina DNA sequencing available, if not affordable, to the consumer

Illumina Launches Personal Genome-Sequencing Service Using Genome Analyzer II

Knome Adds Exome Sequencing, Starts Offering Services to Researchers

Navigenics: The Experience

Navigenics: What my genome tells me to do

Wikipedia: Craig Venter’s Genome

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