Pathway Genomics: Let’s see my genes ... Guest Blog from Bertalan Meskó, Author ScienceRoll

[CC-Conrad Clyburn-MedForeSight]

Colleagues,

Bertalan "Berci" Mesko, is not only a member of MedTech-IQ.  He is author of one the top rated english language medical blogs in the world, ScienceRoll; a medical doctor pursuing a PhD in the field of personalized genomics; and founder of Webicina.com, the world's first medical web 2.0 guidance service...

... In this post from yesterday's ScienceRoll ... "Pathway Genomics: Let’s see my genes", ... Berci describes his experience in using the new Pathway Genomics direct to consumer genetics system ... See below excerpts, or read the full ScienceRoll post at: http://scienceroll.com/2010/03/19/pathway-genomics-lets-see-my-genes/

ENJOY!

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As I’m doing PhD in clinical genomics and I’m really interested in the connection between internet and medicine, so I was very 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 e-mail that my results were
ready. This is just an entry about 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 in a future entry.

The reason why I was very interested in the service of Pathway Genomics is what they analyze:

• Risk markers for 70+ diseases
• Maternal and paternal ancestry
• Drug responses
• Carrier status

1) Sampling: It was quite an easy process ... 

2) Preparations: I liked that I had to fill a questionnaire focusing on my lifestyle and patient history ...

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...

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’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.

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 account 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.

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[Gerry Higgins]

Bertalan-

The disease-associated SNPs seem to convey so little actual risk, based on odds ratio, that it seems that having a 1.5-fold greater chance than another individual of acquiring a common, complex disease seems almost useless information. Is that why the drug response and ancestry information was more useful? That has been the experience of my wife and myself.

Also, Don Charlon of GlaxoSmithKline has reviewed work showing that Adverse Drug Responses convey risks that are intermediate between SNP-based associations for common diseases and Mendelien traits (see attachment), Was that your experience?

Thanks - Gerry Higgins

[Dr. Bertalan Mesko]

Thank you, Gerry, for the reply!

Yes, that was my experience regarding the drug response information. That is definitive compared to the health reports which are only calculated risks/odds ratios, no more.

Berci

[Gerry Higgins]

Bertalan-

Although rare in humans, there is paternal inheritance of mtDNA - unlike what was stated in the Pathway Genomics kit information (see http://www-biology.ucsd.edu/classes/old.web.classes/bimm100.FA04/lecture/Paternal_mtDNA.pdf).

Kind regards - Gerry