For this week’s “TechKnow,” our contributors were given the option to test their genetics through a mail-order DNA kit from personal genetics company 23andme. The company aims to make genetic information accessible and affordable to consumers, but unlocking and understanding all of the information in the humane genome requires more complex and expensive testing.
The “$1,000 genome” has been a buzzword within the medical and genetics communities for over a decade—a time in the future when patients and individuals can have their entire genome sequenced for just $1,000. It took 14 years and over $3 billion to read the first complete human genome in 2000. Since then, several options have been provided to the public with varying costs and results.
Some tests simply read the “exome,” about 1 percent of the complete DNA genome that codes for proteins. While the exome provides plenty of valuable information, the goal for genetic researchers and biotech companies alike is sequencing the complete genome quickly, efficiently, and as cheaply as possible.
Here are some of the options that are available today:
What it tells you: The cheapest and most consumer-friendly test, 23andMe uses a direct-to-consumer delivery system to analyze an individual’s genome from a saliva sample. 23andMe does not sequence the entire genome; rather, the test analyzes about 1 million locations on an individual’s genome and generates a report on over 200 health conditions and biological traits. Note: Pending FDA review, the company is no longer providing health-related results, only ancestry.
What it tells you: An offshoot of the popular ancestral research site, AncestryDNA also uses a personal saliva sample to analyze over 700,000 locations on an individual's genome. Results provide information on ethnicity, genetic ethnicity predictors, as well as DNA matches to other individuals who have taken the test.
Cost: $500-$1,000 for exome sequencing
What it tells you: The front runner until early 2014, Life Technologies came close to the $1,000 genome with their innovative Ion Proton system. However, their $1,000 test is still only able to sequence the exome, not the entire genome.
Cost: $1,000 (potentially)
What it tells you: The preliminary “winner” of the $1,000 genome challenge, San Diego-based Illumina was already sequencing full genomes back in 2009 at the much higher cost of $48,000 per patient. In early 2014, the company announced that their new Hi Seq X Ten sequencing machine is able to process 16 complete human genomes in three days, all at the coveted $1,000 price point.
Illumina’s victory is not definitive. Critics point out that the company does not factor labor costs into their price point for health care providers, and additional storage costs for the massive amount of data that the test compiles could also add to the expense. However, response to the test has been largely positive and if the machine is widely purchased, the era of the $1,000 genome may finally begin this year.
Watch "TechKnow," Sunday 7:30ET/4:30PT to learn more about 23andme and the future of genome sequencing.