The $1,000 human genome took a giant leap closer to reality when Illumina (ILMN -1.35%) launched the HiSeq X Ten Sequencing System in early 2014. Sequencing your genome costs over five times that amount using any other system, and had cost nearly 10 times that amount as recently as 2007. In other words, the company is easily setting the pace for the next-generation sequencing market -- and causing prices to drop precipitously every few years.
The cost of sequencing a full human genome as estimated by the National Human Genome Research Institute. Costs do not account for Illumina's latest system. Image source: Ben Moore/Wikimedia Commons.
While Illumina specializes in data quantity for full-length genomes, the PacBio RS II from Pacific Biosciences (PACB 4.29%) allows researchers to zoom into specific regions of a sequence with exceptional accuracy. The two systems are often used together to provide a full range of capabilities. That bodes well for genomics researchers and pharmaceutical companies, but the appetite for larger volumes of high quality data will trickle down to consumers in the form of even lower-cost gene sequencing.
If sequencing costs fall to several hundred dollars (or less) by the end of the decade, everyday life will look a little different than it does today. Let's take a look at five habits you may adopt, from the time you're born to the day you retire, when low-cost genome sequencing becomes commonplace.
1. The habit of screening the full genomes of newborns
Today, all babies born in a hospital in the United States are screened for various diseases before they're sent home. Although the conditions tested vary slightly from state to state, current tests send blood samples drawn from a baby's heel to the hospital's lab for testing. While considered one of the most successful public health programs on the planet, today's newborn genetic screening tests only look for several dozen health conditions. Full-genome sequencing could alleviate diagnostic bottlenecks inherent to current blood tests and greatly expand the usefulness of newborn sequencing.
By allowing parents to peer into the full genome of their newborn, doctors could monitor individuals genetically shown to be at increased risk of disease or even begin preventative or early treatment. Most parents would welcome the insights, according to a study recently published in Genetics in Medicine. Doctors approached 514 parents each within 48 hours of their child's birth, explained the genome's impact on human health, and asked if they'd be interested in newborn genomic screening. Nearly 83% expressed some level of interest in the tests if they were available, which could become routine in the next decade.
2. The habit of routine sequencing "checkups"
Sequencing wouldn't stop once you left the hospital after being born. While you may be born with a unique genetic code, your environment plays a critical role in determining which genes are expressed and silenced. Factors such as nutrient intake, stress levels, exposure to specific chemicals, altitude, physical activity, and many more can turn genes on and off throughout your lifetime.
If sequencing costs become low enough, then you might undergo routine genetic screenings every few years, at your annual physical, or even every time you become ill to track changes in your genome over time. Similar to newborn genomic screening, routine genomic checkups could detect diseases at the earliest stages of development, which, if used across a sizable population, would have a profound effect on our approach to healthcare by allowing more preventative treatments.
3. The habit of buying products optimized for your genes
You shouldn't have to fight back anxiety every time you peer into your genome for fear of being at an elevated risk for disease. Luckily, some of your results will have nothing to do with health at all. Not convinced that reading your genome sequence could ever be fun? Well, specific results could affect the way you shop.
Image source: P&G.
Although likely unknown to most consumers and investors, personal care behemoth Procter & Gamble (PG 0.86%) has established itself as a genomics leader. The company sequenced the fungus responsible for most human dandruff to develop more effective shampoos under its Head & Shoulders brand -- and patented the microbe's genes in the process. Genomics research has also allowed the company to develop premium diaper lines that are less likely to cause skin rashes and study how specific cosmetic agents affect skin cells of all ages and profiles.
While having a treasure trove of genomics data is useful for internal development, Procter & Gamble is actively preparing for the day that consumers have easy access to cheap genome sequencing, too. Why? The company could develop personalized personal care products marketed to individuals with specific genetic traits.
Here's a fictional example: Let's say you always get dry skin after washing your face with certain products. Your latest sequencing results tell you that you have one of two possible genes that determine how your skin retains moisture. Procter & Gamble could market two face wash products -- one tailored for each genetic outcome -- you could buy the one that matches your gene, and enjoy more moisturized skin. Shopping, product labeling, and advertising would never be the same.
4. The habit of seeking personalized cancer medicine
If you can have personalized face wash, then why not medicine, too? While the media often talks about personalized medicine, the ability to quickly and cheaply sequence a patient's genome could make it a reality. There are many hurdles to overcome, but viable stepping stones are already within reach.
Take cancer for instance. Doctors could sequence a cancerous tissue sample, which contains a genome that varies from that of the patient, to determine where the cancer originated and if specific mutations have occurred. The information could then be used to develop a personalized treatment plan to maximize drug response and potentially reduce side effects. Sequencing could even be repeated after each therapy session to track mutations and adjust the treatment plan.
Good news: cancer genome sequencing is actually being used today. In fact, two drugs (Xalkori from Pfizer and Zykadia from Novartis) have already been approved by the U.S. Food and Drug Administration to treat a specific mutation observed in lung cancer. But the potential is much greater. Since cancer is a disease of an individual's cells, approaching drug development with one-size-fits-all clinical trials may never produce cures. There's a very long way to go in understanding which mutations respond to which types of drugs, but cancer genome sequencing offers one promising avenue.
5. The habit of sequencing... everything
Advances in sequencing the 6 billion base pairs in the human genome will trickle down (and up) to technologies aimed at sequencing other organisms and living things. We could find new drug candidates by sequencing rare plants and discover genes with industrial importance to create the ultimate microbial factories for manufacturing biobased chemicals. We could even equip the next Mars or asteroid rover with a tiny sequencer, beam extraterrestrial genomes back to Earth, and reconstruct them piece by piece by synthesizing DNA (sequencing is "reading" DNA, synthesis is "writing" DNA).
Sound crazy? Don't tell that to J. Craig Venter and Synthetic Genomics, which, with the help of DARPA, are working on just such a machine. That may not affect you directly, but your household may one day own a similar device. Although years into the future, a Digital Biological Converter could allow you to upload swabs of a sick family member's infection, receive recommended treatment options from the Centers for Disease Control over a secure connection, download them, and "print" a therapeutic. No trip to the doctor or pharmacy required.
What does it mean for investors?
Low-cost genome sequencing could extend many benefits to society ranging from discovering, monitoring, and treating disease to making shopping personalized. While investments have historically been confined to a limited number of players who have acted as gatekeepers for related technologies (Illumina has returned 4,620% in the last decade), cheaper sequencing will broaden access and allow multiple companies, some of which you may never have considered (i.e. Procter & Gamble), to share in the benefits.
