Affordable CSI-Style DNA Test

Are you are inclined to have a serious disease?

By Kevin RR Williams

RESEARCH On the CSI television show, viewers don't see the bill for cutting-edge lab tests. At the end of 2007, the biotech company Knome debuted the first direct-to-consumer genome sequencing service at an initial price of $350,000. It was a laborious process. Today, Laurence Fishburne can order DNA results in the morning and have a search warrant by lunchtime.

The popular television serial has spawned numerous prepackaged kits for anything from forensic facial reconstruction to chemical analysis in prices that range from $10 to over $100. These kits can give you all the tools you need to (unsuccessfully) investigate which coworker swiped your yogurt from the communal refrigerator.

But what if you want to apply DNA analysis to something more useful — learn about heritage or determine cancer risk. The "$1,000 genome" was coined in December 2001 with the goal of bringing the cost of DNA sequencing down to consumer-afordable levels. This could lead to customized medications and preventative health care. [1]

For under $100, companies like 23andMe now make it possible for individuals to have their saliva genotyped for health risks. Just create an account, wait for the saliva kit and follow the return instructions. After notification within a few weeks, login for a rich Web-based presentation of over 240 health conditions and traits in addition to lineage. Though the exome data only represents about 1% of the complete genome, mutations in the exome are thought to harbor 85% of disease-causing mutations. [2] Paternity tests, with far more limited reports, cost nearly as much as this genotyping. Before you hang your Doogie Howser, M.D. shingle, there are some disclaimers:

    23andMe Services are for research, informational, and educational use only. We do not provide medical advice and the service has not been approved by the FDA for diagnostic testing. If you have concerns or questions about what you learn through 23andMe, you should contact your physician or other health care provider.

Now that I have you salivating over the possibilities, be certain to read all the privacy disclaimers and FAQ. For example, U.S. legislation prohibits results from being used by healthcare providers to limit coverage. However, the prohibition does not apply to life insurance companies. Your real name must be associated with the original order for you or an authorized relative (child). This can be changed to a pseudonym that appears on reports you generate and for display during interaction with other members.

In January 2012, Life Technologies introduced a sequencer to decode a human genome in one day for $1000. Complete genome sequencing services generally do not include requisite analysis — only the potential for such. In addition to predicting disease risk in childhood, genetic testing may have other benefits but may also have potential downsides (genetic discrimination, loss of anonymity, and psychological impacts). [3-5]

Considering the volume of saliva required (about a teaspoon) for exome data analysis at 23andMe, you don't yet have to worry about someone unlawfully lifting your DNA from a drinking glass or toothbrush. DNA analysis places you in control of your own destiny. An image search on the Web reveals many users who proudly reveal screenshots of their newly discovered heritage. Some write about an acquired openness toward different races. These are exciting times. Technology now makes it possible for us to discover who we are and what may become of us for about the price of a single-day adult ticket to Disney's Tomorrowland. What would you do with historical past and future health revelations?

Tags: ancestry, microbiology, hereditary family tree, propensity for disease

  1. $1,000 genome. ^
  2. ^
  3. Whole genome sequencing. ^
  4. DNA Double Take. ^
  5. Press Release: Life Technologies Introduces the Benchtop Ion Proton™ Sequencer; Designed to Decode a Human Genome in One Day for $1,000. ^