Consumer Genome Tests

With the U.S. Senate passing the Genetic Information Nondiscrimination Act (GINA) last week the bill now moves on to President Bush for signature into law. One more impediment to the genomics age will be removed. Does this pave the way for personal genomics companies such as 23andme and Navigenics?

The Wall Street Journal took up the issue of accuracy with these consumer products last week. As with many new (although I can't really call it disruptive) technologies, this one is somewhat of an expensive novelty. The main criticism seems to be a lack of accuracy in identifying just what genetic diseases an individual may be susceptible to. Although there are numerous tests for susceptibility to heart disease, the current genetic tests don't provide much more accuracy than can be provided by measuring blood pressure.

Some fairly rare genetic diseases do show up clearly on the tests, e.g. a condition associated with a higher instance of blood clotting: factor V Leiden. There is a gray area where the tests will indicate a higher susceptibility to a disease but don't go so far as to say you will contract it. This would be valuable to an individual by allowing them to increase their level of monitoring and taking preventative measures.

So far the insurance companies have yet to buy in on the whole genome tests although they have been covering disease specific tests such as those for breast cancer prognosis.

What the personal genomics companies are selling now is information, information in a quantity and form with which scientists and clinicians, let alone consumers, can barely get their arms around. As Howard McLeod, professor of pharmacology at the University of North Carolina, is quoted as saying "You get a lot of information but very little knowledge." The real challenge, and true value, will be to extract knowledge from these tests.

Genetic Sleuthing

No sooner did the U.S. Senate pass a bill barring genetic discrimination than the state of California announces that they will track down suspected criminals through the use of their relatives' genetic information. Certainly using genetic information to restrict access to healthcare and employment could create ambivalence towards the collection and recording of this information and the Genetic Information Nondiscrimination Act of 2007 (GINA) has gone a long way to reduce that. But now knowing that your genetic information can be used to find and convict a family member of a crime, with or without your cooperation, introduces yet another impediment to the collection of this information.

California is the first state to aggressively employ the new familial, or "partial match" search technology although several other states use it to a limited degree. So far California is only using DNA profiles within its own offender database; DNA taken only from convicted offenders, but plans are in place to extend the database to include arrestees.

The technology of genetic genealogy has progressed rapidly providing insight into human migration and ancestry. Apparently now the technology has progressed to the point where its use can be vital in a criminal investigation.

Although currently used to make exact matches between a DNA sample and a DNA profile in the database, the new policy allows the crime lab to tell investigators who might be related to the person who left the DNA sample. It's not enough for a conviction, but enough to identify, contact and sample the DNA of relatives of the suspect with the eventual goal of finding the suspect.

Familial searches have been common in the UK for the past few years due in part because of the over 4 million profiles of charged criminals and suspects. The practice is not without controversy and even Alec Jeffreys, the discoverer of DNA profiling, believes that using DNA from people who have never been involved with the law raises "potentially rather thorny" civil liberties issues.