There’s been a big push to gather together a vast genomic library of human DNA. The purpose for the dataset ranges for everything from personal genomic analysis to research into the genetic causes of diseases. Will any of these datasets be available for the public? The answer is nope.

Back in 2006, the National Human Genome Research Institute began collecting human DNA and posting it online for researchers to freely download. The datasets were downloaded 491 times before access was restricted. The reason? Fears about protecting patient privacy.

The basic reasoning goes something like this: say you donated your DNA to be analyzed and an unscrupulous person downloaded your data. This person could then synthesize your data and plant it at a crime scene. Investigators taking evidence would find your synthesized DNA and compare it with the online database from the National Human Genome Research Institute. If there was a match, they could then legally compel the Institute to turn over your identity for prosecution.

Does this seem a bit far-fetched? Over 99.9% of the human genome is identical from one human to the next. So forensic detectives just analyze the unique sections of the human genome to identify a person. Only these sections need to be synthesized. There is a well-known technique that allows a researcher to take a section of DNA and substitute a specific genomic pattern. Scientists such as Craig Venter are using this approach to try to create “artificial” life.

Of course, there’s the much more mundane threat that an insurance company could data mine the online DNA profiles to screen applicants. Or perhaps an employer could look up your genetic risk for alcoholism.

You might argue that the National Human Genome Research Institute should only provide averaged data. However in August 2008, a group of extremely clever researchers published a paper describing how to extract individual genomes in highly averaged data. So even averaged data does not protect the individual.

For the time-being, in order to access the human genome datasets at the National Human Genome Research Institute you have to be approved.

The number of for-profit personal DNA analysis companies is also growing.  A quick session with Google easily found five (for the list of retailers I found, see the bottom of this post). These companies charge anywhere from $399 to $99,500 for access to your personal genome. The results of their analyses can be very entertaining, informing you of your genetic lineage as well as a range of genetic diseases for which you may carry a susceptible gene or two. 23andMe.com even won the honor of Time’s Best Invention of 2008.

However, some question what safeguards are in place regarding their customers’ DNA. Do the retail genomic companies offer the same protection that financial companies use to protect customer records? Of course, we all know how well those protections have worked. If someone were to hack 23andMe.com, you don’t have the luxury of changing your DNA the way you can change your credit card number.

There have been a number of interesting articles written about the subject. Probably the best one was recently published in the American Scientist.

Retail genomic companies

• 23andMe.com - $399. Genotype information for about 600,000 SNPs. They claim to estimate the genetic risk of the patient for over 80 diseases as well as ancestry analyses.
• deCODEme.com - $985 – very similar to 23andMe but performs an analysis of 1 million SNPs and estimates the risk of 38 diseases.
• RetailGenomics.com - $1000. Lists 72 conditions for which it tests. A relative new-comer and can’t seem to find much information on it.
• Navigenics - $2500. Uses Affymetrix Genome-Wide Human SNP Array 6.0 , which tests some 900,000 SNPs and provides results on 20 diseases.
• Knome - $99,500. Provides whole genome (98% genome) sequencing services. After analysis, the customer must travel to company headquarters where the scientists who developed their results discuss the analysis with them.
• After having used any of these services, there is a free program called Promethease that will further analyze your personal genome for you. The service is FREE! 

Non-retail genomic organizations

• PersonalGenomes.org – A charitable health & disease research project. Volunteers must permit their DNA to be made freely available to the public, however, the volunteers receive personal analysis as well as access to their own genome.
• Research Program on Genes, Environment and Health – Kaiser Permanente’s project  to sequence the genes of its members in Northern California. Volunteers are supposedly anonymized and do not receive any genetic results. Limited access for approved researchers.
• National Human Genome Research Institute – a government funded genomics project. Don’t see a link for volunteers. The volunteer DNA is made available for approved researchers.

-Lyndie Chiou