Ruby Gadelrab’s answer to Has anybody shared their 23andme results with their physician?

I have tried to this several times and got the following reactions

• Completely blank stare as if i suddenly started speaking to them in Arabic
• Disapproving head shake as if i was crazy to have even taken such a test.
• Denial that the test holds any value whatsoever.

On the occasions that I tried to share with the physicians, i tried to show them the most clinically useful information which is pharmacogenomics data.  None of them even knew that there was a test that could help predict Warfarin (Coumadin) dosing…..

Lack of physician education on genomics will hold us back significantly from utilizing the genomic information with clinical utility as standard of care.

Has anybody shared their 23andme results with their physician?

My Review of Kevin Davies’ The $1000 Genome

I just finished reading the 1000 dollar genome and I loved every page of it.  It documents the last ten years of genomics and the major accomplishments in genomic discovery and molecular technologies which will culminate in our ability to sequence an individual’s complete genomic sequence in a few hours and for less than $1000.  This is the holy grail of genomics.   While reading it I actually had palpitations of excitement at the thought that we are very nearly there and that this momentous achievement will happen in my lifetime.   The implications for science and medicine are huge.

You can’t really talk about genomics and molecular technologies without talking about personalized medicine and Direct to Consumer (DTC) genomics and Davies covers both eloquently.  He describes the innovations that will make the coveted $1000 genome a reality as well as the major characters in the field who have contributed to the genomics revolution and the companies that are emerging to commercialize these technologies and those that are bringing genomics to the consumer. You do need to have some scientific background to understand the technologies outlined, but even the non scientist will love the stories of the characters and more importantly the implications that knowing your genome can have for you.

Direct to consumer genomics is a very hot topic, from a regulatory perspective, from a privacy perspective, from a genetic ownership perspective and from a clinical utility perspective and Davies addresses all of these issues objectively.

Some of things I particularly liked about the book.

• The book is very current; events that occurred just 8 weeks ago are described in detail here.  While the steps towards the $1000 genome have been a culmination of discoveries over many years, Davis focuses on the events of the last two years where the biggest technology leaps have occurred while cleverly jumping back to events in history to create context.

• The unbiased coverage of the rise (and in some cases fall) of all the major DTC players, 23&me, Navigenics, Decode, Pathway genomics.  He even includes an overview of the often overlooked, Coriell  Personalised Medicine Collaborative.

• The story of 23&me is particularly inspirational to me; the author has obviously spent a good amount of time with the co founders Linda Avey and Anne Wojcicki and has captured their history, their vision and their passion superbly.   Anne Wojcicki is quoted as saying ‘we are at the beginning of a revolution that combines genomics and the Internet’.  A number of statements like that attributed to the 23&me co-founders are scattered throughout the book, reminding the reader that this truly is a revolutionary time in genomics.

• The story of 23&me in the $1000 dollar genome, highlights my own personal opinion that 23&me is an excellent combination of
  • Enabling the public to benefit from genomic technology
  • An educational resource for making knowledge on genomics accessible to  the public
  • A marketing machine, using some of the most novel and innovative marketing methods in the biotech industry, from spit parties to a very engaging integrated social media campaign.

• The humanization of many of the people he describes in the industry.  Often, these are just faceless characters we read about, and given the subject matter it would be quite easy to portray these visionaries as just crazy scientists with extreme ideas that belong in science fiction movies.  Many of these people, I have been lucky enough to meet and work with.  Davies captures their essence well, highlighting the human side of their vision and describing their personalities, their challenges, the diseases that have afflicted them and their families and even their own fears when coming face to face with their genomes.

• Leroy Hood‘s perspective that the $1000 genome will bring about a wave of personalized medicine that he calls P4 medicine, personalized, predictive, preventative and participatory with a focus on health and wellness not just disease.

Throughout the $1000 dollar genome, Kevin Davies describes a plethora of examples of personalized medicine success stories, the impact that a genomic scan has already had on individuals knowing their genome has in some cases saved their lives.

The exploration of personalized medicine may seem like a vision of the future but the $1000 genome corroborates my view is that it is here now, it has saved lives, changed lives and it can only get better from here.

Disclaimer: All opinions expressed in this blog are my own and not reflective of my employer’s views.

Related Articles

• Know Thy Genome, Know Thyself – Coriell Personalized Medicine Collaborative (divabiotech.wordpress.com)
• Personal Genome Sequencing Technology is Now Faster and Cheaper – And Fits on a Tabletop (bigthink.com)
• A Decade of Genomics (technologyreview.in)
• Printer-sized Personal Genome Machine launched (gizmag.com)