Genetic testing is emerging as a new trend in personal healthcare, where people can order the test online, know about their propensity for various diseases, and prepare for disease prevention. Then, again, maybe you don't want to know!

In mid-September, Google founder 35-year-old Sergey Brin launched a personal blog, Too. The first post in that blog was a stunner and received huge media attention! The blog post unveiled that Brin--who underwent a gene test by 23andMe, a California-based gene testing company co-founded by his wife, Anne Wojcicki--is carrying a mutant gene linked to Parkinson’s disease.¹

According to the results of 23andMe’s gene test, Brin’s genetic profile includes mutation of a gene, called LRRK2. Research has shown that this particular mutation of LRRK2—known as G2019S--may increase a person’s risk for a type of Parkinson’s disease that runs in families. Brin’s mother suffers from Parkinson’s disease, and the 23andMe gene test showed that she also has G2019S mutation in her genetic make-up.

“When my wife asked me to look up G2019S in my raw data (23andMe scientists had had the forethought to include it on their chip), I viewed it mostly as entertainment,” writes Brin in his blog. “But, of course, I learned something very important to me--I carry the G2019S mutation and when my mother checked her account, she saw she carries it too.”

Brin points out in the blog that he has “a markedly higher chance of developing Parkinson's in my lifetime than the average person.” “In fact, it is somewhere between 20% to 80% depending on the study and how you measure,” he writes.

Like Brin, people are now interested in checking their disease risk through gene or DNA tests. And thus, genetic testing is emerging as a new trend in personal healthcare, where people prefer to order the test online, know about their propensity for various diseases, and prepare for disease prevention.

Regarding his test, Brin writes, in his blog: “This leaves me in a rather unique position. I know early in my life something I am substantially predisposed to. I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson's). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.”

For a gene test, an individual has to register and make a payment online. Then a test kit is sent to him for collection of the sample (that is the saliva of the customer). The kit includes a test tube, where the customer has to spit, and then mail the tube to the company. The results are obtained in about a month through a web account. The information unveils a genetic make-up of the customer, propensities for certain diseases, and some other genetic features including how one would  respond to a group of drugs.However, the results unveiled by a gene test are only considered informational and not diagnostic.

In 2008 the California public health department granted 23andMe and Navigenics a license to offer gene services to their customers, with the condition that physicians have to be involved in ordering the genetic tests. According to Navigenics, the company scans its customers’ DNA for “genetic risk markers associated with both common and uncommon health conditions.” “We use rigorous standards for deciding which conditions to include in your report”.^2,3

The test done by Navigenics unveils risks for several conditions, such as obesity, psoriasis, prostate cancer, glaucoma, Crohn’s disease, colon cancer, stomach cancer, breast cancer, lung cancer, celiac disease, lupus, heart attack, atrial fibrillation, Grave’s disease, type-2 diabetes, osteoarthritis, rheumatoid arthritis, to name a few.  However, the test doesn’t cover certain conditions, Navigenics points out, and these include brain cancer, schizophrenia, height and eye color, amyotrophic lateral sclerosis and HIV susceptibility or resistance.

The cost for a gene test varies and it usually ranges from $1000 to $2500. However, on September 9, 2008, 23andMe came up with a substantial price cut for its gene testing service. According to the company, the price was reduced to democratize personal genetics and expand people’s opportunity to benefit from the genetic revolution. “Effective immediately, 23andMe is offering its service for $399,” declared a press release by the company. “ 23andMe is able to offer the reduced price thanks to technological advancements made by the company that provides its DNA scanning technology, Illumina, Inc,” the release says. As of June 2012 the price has dropped to $299.

23andMe’s co-founder Wojcicki comments, in the release, “By taking advantage of continuing innovation we are able to introduce a new chip that will give people more relevant data at a lower price.” “We are excited that we are opening doors for more people to learn about their health and ancestry and for more people to be able to participate in advancing research. It is important to democratize personal genetics and make it more accessible.”

Despite this enthusiasm for online genetic testing, there are issues that have evoked strong negative vibes against the trend.

Critics say, a DNA test speaks only of the preponderance of an individual for a disease or more than one disease--it can’t say anything conclusive. For example, a large number of people with G2019S mutation (the mutation that Brin has) never contract Parkinson’s disease.

Moreover, stamping an individual predisposed to certain conditions--on the basis of genetic testing--may cause substantial psychological trauma to him or her. That apart, there is also the possibility that insurance companies or employers would discriminate against a person on the basis of a gene test, which is why in May 2008, President George Bush signed the Genetic Information Nondiscrimination Act (GINA) of 2008 that bars insurance companies and employers from discriminating against anyone on the basis of genetic information.⁴

The Bottom Line

It's obvious that gentic testing will play a role in the emerging specialty of personalized medicine. Some people will welcome this new capability that can prepare one for future diseases, but on the other hand a lot of us will rather not know what lies in store for us, especially since most chronic diseases do not have a cure, as yet.

However, Brin considers himself “fortunate” for the genetic test he underwent. “Until the fountain of youth is discovered, all of us will have some conditions in our old age, only we don't know what they will be,” he writes in his blog. “I have a better guess than almost anyone else for what ills may be mine -- and I have decades to prepare for it.”

Published October 16, 2008, updated June 11, 2012

References

1. Too
2. 23andMe
3. Navigenics
4. The Genetic Information Nondiscrimination Act (GINA) of 2008, National Human Genome Research Institute, genome.gov