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Take A Look At Your Genes

As I’m doing my PhD in clinical genomics, I’m really interested in the connection between the Internet and medicine. I was happy when Pathway Genomics, one of the newest direct-to-consumer genetic companies, offered me a free genetic test.

After an interview I did with them, I sent my saliva sample back and 3-4 weeks later, I received an email that my results were ready. This is my experience and the things I found interesting. As I got a free test from Navigenics a year ago, I plan to compare these services. I was very interested in the service of Pathway Genomics because of what they analyze:

1) Sampling: It was quite an easy process with only a few papers to fill (though it’s always hard to solve FedEX issues from Europe) and clear instructions. A video about a patient showing the whole process in 1-2 minutes, including saliva collection and filling out the paperwork, would be useful. 

2) Preparations: I liked that I had to complete a questionnaire focusing on my lifestyle and patient history (Your Environment and Lifestyle, The Shape You’re In, and You and Your Family). As family history is the best genetic test out there, so it’s important to use that data while analyzing genetic results. Though, I couldn’t calculate my BMI (couldn’t use kg and centimeter) and the family history application wasn’t working for me.

3) Results: I still think that predicting risk of diseases based on a few SNPs cannot be accurate enough and we cannot base a medical decision on that. But drug responses and carrier status are totally different. For example, now I know I’m not a carrier for any of the disease they analyze, and I’m a slow metabolizer of caffeine (I never drink coffee as it has quite a negative effect on my work maybe due to this slow rate of metabolization).

4) Health conditions: Based on your genetic profile, it creates different groups for conditions such as Immediate Action, Take action, Be proactive, Learn More and Live a healthy lifestyle. It’s also shown whether the risk is based on validated or preliminary study results. It seems to me it creates a score for diseases based on SNPs and elevates the score by the number of questionnaire answers that proved to be risk factors. That’s where a genetic counselor is very important. For example, just because I’m 25 years old and Caucasian, I’m in the risk group for ulcerative colitis. I would love to see the combined risk (genetic + lifestyle) and would love to download the raw data in order to analyze it again with Prometheus and SNPedia.

Also I’m not sure whether an SNP with 1.07 odds ratio can really elevate my risk for anything.

Anyway,  it’s easy to navigate among the results and I like that there is no percentage of risk which makes it easier to understand for laypeople. I plan to contact one of their genetic counselors next week.

5) Ancestry: I’m in the same maternal haplogroup as Benjamin Franklin or Marie Antoinette (see migration map below on which we can adjust the migration pattern with the timline). The descriptions are detailed and full of references information. I particularly liked the numerous Pubmed links. My paternal haplogroups is quite interesting and is the same as Thomas Jefferson’s.

My friend, Blaine Bettinger also commented on this test.

6) To sum it up: I liked the service mostly because of the carrier status and drug responses features. It helped me analyze the results, find more information in peer-reviewed journals and maybe make lifestyle decisions.

Pros:

  • The 100% Moneyback Guarantee is still fantastic.
  • It analyzes not only disease risks but carrier status and drug responses.
  • No percentage of health risks, but a clear score system.

Cons:

Charging for the genetic counseling is not a good idea ($40 for a call up to twenty minutes, or a full hour for $99). It costs almost as much as the service itself (Update: It turns out it was an old page and genetic counseling actually is for free):

  • The blog and Twitter accounts are not too active. There is no significant social media activity which would be crucial.
  • Obviously USA-focused.
  • Raw data is not available for download.

In the next entry, I will compare my experiences with Navigenics and Pathway Genomics.


*This blog post was originally published at ScienceRoll*


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