In 2001, the first copy of the human genome was published. Since that time, scientists and health professionals have been working to put our knowledge of the Human Genome Project into practice to positively impact human health. Genetic counselors understood that this unprecedented level of insight into the 3.1 billion-letter code that builds and powers our bodies would improve the ability to diagnose, prevent, manage, treat – even cure – diseases. But, back then, sequencing a single human genome came with a $100 million price tag, making the cost of genome sequencing one of the biggest barriers to incorporate it into routine medical care. Geneticists, researchers and other specialists all seemed to agree that $1,000 was the magic number. When labs could sequence a whole human genome for $1,000, it would be affordable enough to be a part of routine health care.
The Evolving Cost of a Genome
I was finishing my genetic counseling training program back in 2001 and, at that time, the $1,000 genome seemed out of reach. By 2006, the cost had dropped to about $10 million, but appeared to be plateauing. Shortly thereafter, a new technology was introduced that we now call next generation sequencing (NGS). NGS allowed labs to sequence huge amounts of genetic material simultaneously, shortening genome sequencing time from years to months and lowering the cost. Suddenly, the cost of genome sequencing dropped dramatically and by 2011 – just ten years after the first human genome was sequenced – it was available in research labs for $10,000.
At this time, a patient cannot simply visit their physician and ask for the $1,000 genome
In January of this year, the arrival of the $1,000 genome was announced. The announcement was met with enthusiasm and excitement, but there also were many questions. Some of the most important questions I heard came from patients with undiagnosed diseases, who believed that genome sequencing could help and who had been waiting for this incredible testing to reach a price they could afford. I’m a genetic counselor with the lab that made the announcement and afterward my email inbox flooded with patients asking “How do I get my $1,000 genome?”
What’s in a $1,000 Genome?
At this time, a patient cannot simply visit their physician and ask for the $1,000 genome. This is for a few reasons, including:
- In order to reach that magic price point of $1,000, the genomes have to be run on a system of custom-built sequencing machines available only in major genome centers and institutions.
- Additionally, these centers must conduct large-scale sequencing projects along the order of tens of thousands of samples per year.
- The output is only the genetic code sequence, without information about how it relates to the individual’s health.
When a human whole genome is sequenced, additional resources and investment are needed for labs, genetic counselors and/or other health care professionals to analyze, interpret and report on the results. Without this translation, it’s essentially a hard drive full of data instead of a report that a physician can use to care for patients.
With these caveats and exceptions, why do genetic counselors find this so exciting? Because this technology will soon allow whole nations to start sequencing programs for their citizens like Genomics England, which recently announced that the United Kingdom would sequence 100,000 genomes by 2017. By sequencing whole genomes at this unprecedented scale, researchers will be able to further explore the genetic underpinnings of cancer, better understand complex diseases like high blood pressure and stroke, and identify many new genes that cause rare diseases. These are issues which genetic counselors manage every day with their patients and this type of large-scale sequencing will provide better information about our genes than we’ve ever had before.
Learn About Your Genes
The $1,000 genome may not be in the clinic yet, but it is here, and a new age in genomically-guided medicine will not be far behind. If you’re interested in discussing genetic testing and your genetic health, you can find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.
Erica Ramos, MS, CGC is a personalized medicine expert for the National Society of Genetic Counselors and is a Senior Genetic Counselor at Illumina, Inc. in San Diego.