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Suzy CA USA

My posts are presented as opinion and commentary and do not represent the views of LabSpaces Productions, LLC, my employer, or my educational institution.

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Awesome Stuff
Tuesday, December 21, 2010

For those of you who follow the tweets of @DivaBiotech, you are already familiar with the varied interests and activities of outgoing world traveler and international marketing guru in the area of genomics, Ruby Gadelrab. Ruby is one of my favorite tweeps, keeping me up to date on the personal genomics scene and the latest biotech science news. I asked Ruby to guest post on LabSpaces so we can hear more from this former molecular biologist turned marketing executive supertalent. Her background and experiences in biotech and her love for cutting edge science make her an excellent source of information and inspiration for up-and-coming biotech scientists.

Thank you Ruby for sharing this article with us. I hope we can print Part 2, when you report the results of your genetic profile. Depending on what comes back, I may do the same.

 *********************************

During the summer of 2009, I came across a fascinating Genetic Study that I decided to participate in. Part 1 of this blog will describe the study and some of its features I particularly liked.  In Part 2, I will share some of my personal experiences in participating in the study.

The Coriell Personalized Medicine Collaborative (CPMC) is a research study with a goal of understanding if personalized genetic information can be used to improve health outcomes.

Participants are asked to contribute a Saliva Sample (by spitting a lot in a plastic tube) which is then screened for genetic variants, which can be attributable to common diseases and predict responses to certain medications.

The participants are also asked to complete an online profile of themselves in which they are asked a series of questions on their lifestyle, family history, current health and medications used.  This information in combination with the test is used to generate a personalized genetic report which is viewable by the participant online, once the results are available.  That’s it – it’s free and it’s really simple.

I wanted to highlight a few of the features of the study that I particularly liked

  • The complex diseases/that are reported on are certain types of cancers, diabetes, heart disease and other multi-factorial conditions.  The key thing that they have in common is that the risk of developing them can all be reduced by changes in behavior , lifestyle or medical management– only conditions which are potentially “actionable’ are reported.
  • Apart from multi-factorial conditions, samples are also screened for genetic variants which can influence how individuals metabolize certain prescription drugs, something that’s definitely useful to know when making treatment decisions.
  • One of my favorite things about the CPMC is the lengths they go to ensure that each participant has the opportunity for a great education in genetics, with up to date easily digestible information. The website gives the user a crash course in Genetics 101, the principles of heredity and a discussion on how genomics knowledge may be useful in making medical decisions.  The sections of the website dedicated to genetic education are excellent at dispelling a number of myths that the public believe about genetics and genomics.  One example is the distinctions made between sporadic cancers, familial cancers and hereditary ones.  When we say “cancer is genetic” many equate that only with hereditary genetics and may have fatalistic misconceptions when learning that they have inherited a ‘cancer gene.’ The explanations are simple, using accessible language and diagrams.
  • Once the results are made available on the website (approx 6 weeks after sample submission) participants are notified by email and then they have several choices.
    • To learn about the condition and what the risks actually mean.
    • To view  the results with a very easy to understand interpretation of what they mean
    • The choice NOT to view each or any of the individual results
    • To get genetic counseling, in person or over the phone before or after viewing the results.  This is a very key part of the study that I believe, differentiates it from some of the commercial ‘Direct to consumer’(DTC) genetic testing companies. It’s particularly important when you consider the ‘fear factor’ that the public currently have with respect to genetic information, particularly when we are talking about complex conditions and disease..
  • The study is ongoing over many years.  Genetic research is constant and every day new genes, are discovered and associated with different diseases.  As this happens this information will be made available to the participants provided they are ‘actionable’ and the participants continue to annually update their online medical and lifestyle profile.   I believe that this continuous engagement of the participants will also play a major role in improving the scientific literacy of the individuals with regards to personalized genomics.
  • Participants have the option to release their anonymous data to non profit or not for profit organizations to use as part of their studies into genetic disease.  Another  great feature of the study,  not only can participants gain more knowledge of their own genomes, but they can also make an active contribution to genetic and disease research which will ultimately benefit future generations.
  • The collaborative nature of this study is again a key differentiator from other commercial DTC entities.  This study brings together thought leading scientific researchers, genetic counselors, IT specialists, hospitals, clinicians, members of the public and many more groups who will all play a key role in advancing personalized genomics initiatives.
  • The ‘online ‘nature of the whole process is a view to the future of what Medicine 2.0 could look like.  A web based interface that enables patients to learn about medical conditions in general, get test results back electronically, learn specifics about their conditions and how to manage them, create and follow treatment plans, interact with their medical practitioners and schedule appointments for treatments without ever leaving their homes.

Once I heard about the CPMC and researched it a little, it didn’t take me long to decide that I wanted to participate. In Future posts I will share with you my 23andme experience as well as some of my results.

I would love to hear from others who decided to take a Personalized Genomics/Medicine test.

For further details on the study please visit

http://cpmc.coriell.org

 

 

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Blog Comments

Genomic Repairman
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Cool, this sounds sort of like what Misha Angrist did in the Personal Genome Project that George Church's lab runs except that participants genomes were placed online.


Brian Krueger, PhD
Columbia University Medical Center
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Is the data output comparable to 23andMe?  How are they offsetting the cost of a free test?  Are non-profits going to have to pay for access to the database?

It sounds like an interesting model and it will be really nice to see your follow up post including your analyzed results.

Ruby Gadelrab

Guest Comment

Hi All,

 

Happy New Year! Sorry about the delay in getting back to you - I have been little tied up over the holidays.

 

@genomicrepairman - I believe that Misha Angrist actually had his whole genome sequenced and placed it online.  I have just had genome wide genotyping.  I am also willing to share my genome with anyone who wants to data crunch :)

 

@Brian - yes its comparable to the way 23andme does genome scanning, most of the results are concordant there are a few that differ slightly - ill write a separate post to compare and contrast.  Because this is a research study, I believe they are funded from NIH grants.

 

Divabiotech (Ruby Gadelrab)

 

 

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