Personal Genomic Testing for the Consumer
TweetLast June I read a provocative book by cardiologist Eric Topol, MD, titled The Creative Destruction of Medicine
Helpful or hurtful?
In particular, one "destructive" topic addressed in the book is personal genomic testing. Direct-to-consumer genomic testing is controversial; however, after reading Dr. Topol's thought-provoking book as well as further research from him and his colleagues,2 I believe that the ethical dilemmas, including potential psychological responses, do not outweigh patient awareness, the potential for healthy lifestyle changes, and patient empowerment. I can also envisage how DNA testing could be used as a novel approach to a person's own genealogy research.
Meanwhile, some authors suspect that direct-to-consumer genomic testing will have very little—if any—impact on patients with cancer,3 and, admittedly, the clinical use and validity of these tests for complex disorders may be problematic at best.4 But when questioned, some patients said they saw testing as a call to action and were relieved after undergoing genomic testing, with some even adopting healthy changes to their lifestyle.5
Cost of genomic testing
The cost of direct-to-consumer genomic testing has drastically decreased, averaging between ~$100 and $2,000.6 In the book, Dr. Topol shares the results from his personal genomic test, and he's not alone. Others have done the same, including UC Davis Associate Professor of Medicine Paul Knoepfler who wrote about his experience in the Huffington Post.7-9
Many have chosen to purchase a personal genomic kit from 23andMe, which is the first advertisement that comes up after a "personal genome testing" search on Google. Of course, that should come as no surprise because 23andMe was co-founded by Anne Wojcicki, wife of Google co-founder Sergey Brin. (What struck me, though, was the third advertised result on the first page of my search, which was a plug for a National Geographic personal genomic testing kit. How bizarre!) There are other kits available, and there's even the Personal Genome Project that will sequence your genome for free (provided that you don't mind your data being public and understand the risks involved). After reviewing my options, I decided on 23andMe. (Note: I do not have any interests, financial or otherwise, in 23andMe.) You can donate your 23andMe results to the Personal Genome Project later if you so choose—and I just might. We'll see. Not sure yet.
Oh, what the heck—let's try it!
I ordered two personal genomic testing kits from 23andMe, which uses a lab that abides by standards set forth in the Clinical Laboratory Improvement Amendments. I bought one for my husband and one for myself. (The second kit is 20% off if you buy two at one time. Turns out that the cost is below $99 if you purchase more than one!) The box came just a few days later and I was cautiously optimistic, but still elated.
I started off by going through the company's registration process on its website, which was immediately followed by a series of questions about my medical history (had I ever had an adverse event serious enough to stop me from taking a medication, did I have a history of smoking). I wasn't required to answer those questions, but I did anyway. Instructions for gathering my DNA were included, and the sample was fairly straightforward to provide. I waited 30 minutes after eating, and then I spit into the test tube until I hit the "fill" line. Admittedly, that was the most difficult part because it felt a little awkward to repeatedly spit into a plastic tube. (However, I discovered after the fact that the instructions should have included a note about not wearing lipstick or gloss! It's likely that the residue of my lip gloss may have found its way into my saliva sample.)
The genomic kit included a prepaid shipping label already affixed to box; after I sealed the "biohazard" plastic baggie and dropped it into the box, I walked to the post office to drop off my DNA sample. (On the way to the post office I was already envisioning how my results were likely to reveal a strong association with heart disease, hence the decision to walk rather than drive. Huzzah!)
To be continued...
The company's website instructs consumers that their results won't be ready for 4-6 weeks after its lab receives the sample.10 We live in a ludicrously fast-paced world these days, so the results of the testing aren't quite as fast as most consumers probably expect. So, with that in mind, check back for an update some time in late September...
Update, September 23: Want to read about my results? Click here for the continuation of the story.
References
1. Topol E. The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care. New York: Basic Books, 2012.
2. Bloss CS, Wineinger NE, Darst BF, Schork NJ, Topol EJ. Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet. 2013;50(6):393-400.
3. Bellcross CA, Page PZ, Meaney-Delman D. Direct-to-consumer personal genome testing and cancer risk prediction. Cancer J. 2012;18(4):293-302.
4. Dandara C, Greenberg J, Lambie L, et al. Direct-to-consumer genetic testing: to test or not to test, that is the question. S Afr Med J. 2013;103(8):510-512.
5. Wasson K, Sanders TN, Hogan NS, Cherny S, Helzlsouer KJ. Primary care patients' views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study. J Community Genet. 2013. [In press].
6. U.S. National Library of Medicine. Genetic testing. http://ghr.nlm.nih.gov/handbook/testing?show=all. Accessed August 11, 2013.
7. Knoepfler P. 23andMe and me: personal genomics coming of age, part 1. http://www.huffingtonpost.com/paul-knoepfler/personal-genomics_b_1943532.html. Accessed August 10, 2013.
8. Knoepfler P. 23andMe and me: personal genomics coming of age, part 2. http://www.huffingtonpost.com/paul-knoepfler/personal-genomics_b_1963776.html. Accessed August 11, 2013.
9. Knoepfler P. 23andMe and me: personal genomics coming of age, part 3. http://www.huffingtonpost.com/paul-knoepfler/personal-genomics_b_2563773.html. Accessed August 11, 2013.
10. 23andme. When will my results be ready? https://customercare.23andme.com/entries/21251953-When-will-my-results-be-ready-. Accessed August 11, 2013.