User:PersonalGenotypingExperiment

I am about to undergo genotyping through 23andme, screening for some 500,000 SNPs. I intend to publish the entirety of the data online under Creative Commons license (possibly CC-0). My hope in doing so is that my genetic information may, in a tiny way, contribute to scientific understanding the human genome.

In aggregate, a large number of human genomes will help the general understanding of science. That dataset needs to be generated, so I'm happy to make my genome available.

In addition to releasing my raw data, there is supplemental information I can provide to potentially increase the usefulness of my genetic data. First and foremost, I will provide detailed information about my medical history and my individual traits. Additionally, since I have a background in biological research, I will document my own insights and conjectures about theoretical relationships between my traits and my genome.

One important observation is that any supplemental I provide should be released prior to undergoing genetic testing. At this moment, I am 'blind' to my genotypes. Once I learn receive the results of genetic test, those insights might affect my subsequent assessments and predictions, leading to potential confirmatory bias. Thus, to maximize the future usefulness of my genome results, I should document, insofar as possible, my state and trait insights prior to learning the results of genetic testing.

Wikiversity can, in this case, act as a trusted third party to document the drafting process and timeline. --PersonalGenotypingExperiment 02:13, 15 September 2010 (UTC)

The infinite complexity relationship genotype, environment, and disease
In approximately 8 weeks, I will receive a massive amount of data. Along with that data, 23andme will provide some very basic feedback in terms of what insight existing research to say about my genome. This information can be used in ways similar to a family history-- to potentially provide people with insights into what diseases they might develop in the future, allowing people to take appropriate steps to prevent those diseases.

That's a valid purpose, but it's not my purpose here. Rather, I hope my genetic results (combined with medical history and personal insights) can help us, as a species, gain a better understanding of the human being.

The personal genomic era is only just dawning now, and Epigenetics is an incredibly young science. Except in a handful of simple diseases, we are still a long, long way from true understandings, on a causal level, how genes and environment interact to cause disease.

So, upon learning my genotype, it will not be a simple matter to see the relationships between my gene results and my traits and diseases. Far, far from it. New discoveries about this relationship will continue to be made for my entire lifetime. We do not have a "perfect understanding" of this relationship, and Science will take decades or even centuries before arriving at such a complete understanding.

The need for a basic strategy
A human genotype constitutes a massive amount of data. The total genome is . Finding the genes that have contributed to my traits and my diseases is harder than finding needle in a haystack-- it's like trying to find specific set of haystalks hidden in a giant piles of bales of hay.

In order to help "narrow the search", I'll summarize my a priori knowledge and expectations. Specifically:
 * My notable traits, conditions, and diseases
 * Family history
 * Which traits or disease I suspect of having a genetic component
 * Which classes of systems are suspected of implication
 * Which classes of proteins might be implicated
 * Which families of genes might be implicated

In short, I'll try to help narrow the focus of where in my genotype a result should be considered "potentially significant".

Why guess?
In practice though, science is done in aggregate, not at an individual level. I sincerely may be of some small help to the progress of science by making my genome and my verifiable medical conditions available to the world.

Adding my own rough guesses of which systems and which genes might be implicated, however, probably won't be of any actual usefulness. In that way, they are the "human interest" side of the story. It's firstly and foremostly interesting to the human involved.

Every disease is a mystery, and the human brain loves mysteries. I look forward to watching science unravel the mysteries of our universe. Thus, it inspires me to participate-- to write down what my 'best guesses' about my genes and traits are. But even as I document such guesses, I know that this is only the opening pages of the mystery novel. With time, science will progress and reveal, piece by piece, how genes and traits are related. In the interim, I find it meaningful and enjoyable to speculate, even as I realize my guesses are only guesses, not evidence or answers. In a mystery novel, the reader starts trying to unwravel the mystery, beginning on page one. Fans of "Lost" began to speculate even after the first episode.

In a similar manner, I will engage in some guesses and speculation-- even though I know I do not yet have access to enough information to actually "solve the mystery". The era of personal genomics has only just begun to dawn.

Continued on User:PersonalGenotypingExperiment/Very Rough Draft