23andme and Me

I have finally bitten the bullet and sent in my sample to 23andme. I have also sponsored the uBiome Indiegogo project this year. It looks like 2013 is the year I get to know myself to a degree that was impossible a few years ago. The Quantified Self movement is gaining momentum which is a very positive trend.

With my background you might expect that I would have jumped aboard much sooner. Particularly since I was seriously examining personal genomics as a business opportunity in 2005 and I had identified an Oragene kit like the one that is currently used by 23andme as the best way to obtain customer samples. My business partner was using Google Adwords to promote the business. The pieces did not come together at that time but I still retain the business name DNA Digital and I remain a firm believer in the power of this information in the hands of health conscious individuals.

I have hesitated to do 23andme because if I was going to go down this road I wanted to be ready to do it right. It will take a significant time commitment to look at the data and do my own due diligence as to significance. It also does not hurt that at $99 it is ridiculous the value you are getting for the cost.

I wonder how many people receive their reports from 23andme and drown in the data. Often a plethora of information can cause analysis paralysis. My interest and approach will be focused mainly on genes related to health and longevity. Of primary interest will be alleles related to Alzheimer’s disease and metabolic disease risk. My grandfather had Alzheimer’s and it is a very cruel fate. I will chronicle my analysis in this blog. My sample was delivered yesterday (April 3rd) so I am looking forward to data overload in the next few weeks.

A Minor Roadblock

Since I live in Ontario close to the border with New York it would have been convenient for me to send my samples some point when I was crossing the border to save some postage and expedite their arrival. However, it seems that New York prohibits taking samples or mailing them to 23andme from within New York state. They have taken the position that the consumer should not be allowed to access this information without the oversight of an M.D. I strongly disagree with this position and it begs the question of whom this law is meant to serve.

The Bigger Picture

I realize that 23andme is becoming a big data play and they are looking to monetize the information that they are accumulating. If they continue to support and extend the efforts of Curetogether.com and continue to expand their offerings then they are welcome to try to make some coin from my data.

The power of combining such data is tremendous especially if it is open. One of the most powerful databases of the last twenty years has been GENBANK where sequencing information has been compiled annotated and stored in an open database. For those unfamiliar with GENBANK it is a repository where researchers submit DNA sequences from any organism or virus where they can be cross referenced with other sequences. It has an accompanying set of tools that allow you not only to look for identical matches but also find nonidentical matches with statistics to indicate how likely the match is to be random rather than a direct relationship. This is much more powerful than only being able to find exact matches because you can find related genes and even attribute functions to genes that have not been previously characterized.

I am unable to count the times that I have used the GENBANK, Pubmed and related tools at NCBI to create value. These tools have had an incalculable impact on advancing biology and are basically taken for granted by researchers. The NCBI site is free and open so I encourage you to play with it, you might discover something interesting.

The benefits

It is impossible a priori to predict the myriad ways that collecting this data together could benefit us all. I urge you to participate in these citizen science efforts because PhDs do not have a monopoly on thinking and MDs do not have a monopoly on health.

Let us explore together what it means to be human and how we can become proactive stewards of our health rather than reactive when we are ill. It is very true that an ounce of prevention is worth a pound of cure because many chronic diseases once entrenched are very difficult to overcome. However, there are often simple lifestyle steps that could have been taken beforehand to reduce risks.

 In Conclusion

I decided to embark upon a career in biology with the aim to extend lifespan because I wanted to experience as many of the wonders of the future as I am able. Having worked in research and drug development for half my life now I am humbled by the difficulty of the task facing us. However, unlike many I view our main obstacles not as difficulties requiring more scientific research and discovery. The major roadblocks are in the area of translating discoveries that are already here into practice to overcome entrenched practices and institutions that thwart progress in this field.

23andme and curetogether.com are lighting the way to a better-informed population in matters of health and well-being. I applaud their efforts and urge you to participate as well.

Cancer as a primeval survival program.

In my encounters with cancer biology as a researcher I have always had a nagging feeling that our focus has been somewhat off target. Cancer cells are evolution in action, which is why it is such a difficult disease to treat. There is a great degree of variation within and between tumors. Cancer cells are replication machines that rapidly adapt to their environment. Cancer is on my mind even more than usual because over the past few years friends and relatives have been battling this disease.

A recent paper (See reference below) probes the deep evolutionary origins of the survival program employed by cancer cells. It is a compelling idea and this paper surveys the prior work and extends it. This view characterizes cancer as not only a new species but as a separate kingdom than the ancestor/host organism since it has moved from being part of a multicellular organism to being a parasite that operates at a single cell level.

This characterization rings true in the description of cancer cells as a single celled organism adapted to Pre-Cambrian conditions and pursuing a replication strategy of “any-cost cellular survivalism.”  This perspective is consistent with the capacity of cancer cells to survive and even thrive in conditions of hypoxia (low oxygen). This has many implications for the treatment of cancer because the primary therapeutic strategies like radiation and chemotherapy resemble the harsh environmental threats faced by our ancient ancestors when this survival program arose.  So it is no wonder that many cancers remain viable after treatment and the surviving lineages often become even more robust after such challenges.

In the original context this survival program could provide an escape hatch or lifeboat for a single cell from the constraints of being part of a multicellular organism. Basically the cell adopts an “every cell for itself” mentality when the going gets tough as a strategy to insure cellular survival. As multicellular organisms further evolved the control mechanisms to inhibit the defection of cells became stronger but not insurmountable.  In the ancient aquatic environment it was possible for the survivalist cell to make a go of it on its own. However the current endgame of cancer is the death of the host it is overrun by unchecked proliferation of the cancer cells. With some notable exceptions being the rare cases of cancers becoming a transmissible disease as is the case for a facial cancer in Tasmanian devils or being selected as a standard laboratory strain like HeLa cells (http://en.wikipedia.org/wiki/Henrietta_Lacks).

In order to implement this strategy as a heuristic replicator the cancer cell jettisons regulatory programs required for good citizenship in a multicellular organism. Rapid mutation rates and genomic instability allow the cancer cell lineage to quickly explore configurations for optimal survival and replication as a parasite.

The Implications

This view of the cancer cell as an artefact of evolutionary history is both encouraging and discouraging. This perspective is consistent with the limited success that we have achieved in decades long “War on Cancer”. Our current paradigm to challenge cancer cells with harsh regimens also wreaks havoc with the rest of our body. However it is heartening that there are aspects of this survival program that may expose vulnerabilities of cancer which could be exploited to derail the survival program. For example, low oxygen levels appear to drive more aggressive tumor behaviors including metastasis. A focus on increasing oxygen levels in the core of tumors is a promising avenue for further research.

Reference

Bioessays 34:72-82 (Mark Vincent, 2011).