AJT+23andMe

Overview
23andMe offers a personal genomics service. Your DNA is analyzed and some 1,000,000 single nucleotide polymorphisms (SNPs) are recorded. Some 2000 are taken from mitochondrial DNA also to allow for maternal haplotyping. These are then compared to the swath of research on each of these SNPs to identify disease risk, carrier status, haplotype and more. The site was set up by two entrepreneurial ladies, Linda Avey and Anne Wojcicki in 2006. Their mission was to create a service to “empower individuals and develop new ways of accelerating research”. Since more than 1000 DNA variants have been associated with diseases and phenotypical traits, the possibility for attaining significant quantities of data is large. Many genetics departments from all over the USA are now interested in the data attained by the site. Since the individual markers match 99.7% against full genome analysis, the cost benefits are substantial.

Collection Procedure
When the package arrived, it was with some trepidation that I opened the box. Luckily the kit was very simple to use and did not require vast quantities of blood or cheek cells. I just had to spit in a tube, a lot of spit I grant you! The lid of the tube included DNA stabilizers and the sample was quickly repackaged and returned to 23andMe.

Results
The results came through and showed I have a significant health risk for Type II diabetes and Venous thromboembolism. I decided to address the thrombosis as it was significantly raised risk above normal.



The report contimued to then identify the SNPs involved in this diagnosis. With the ability to also compare my data with my aunts and Nancy, I was able to identify the key protien involved. The 23andMe site also in great detail presents the research and the links to the articles that the reults are based. The three different reports are shown below :- My Results Jan's results Nancy's Results

My aunt and I share the same polymorphism on the F2 gene. We are heterozygous for the mutation. Nancy has the wild type genotype.This disease has a high genetic component also. Around 50% is said to be attributable to genetics. Venous thromboembolism is caused by many different factors. The two most common genetic factors are the Factor V polymorphism and the Factor II polymorphism.The results identified that I am normal for FV but have the F2 mutation. A full genome comparison shows I am very much related to my aunt ( a comforting thourght !) This does bring up the question of ethics within Personal Genomics. Paternity, carrier status and lethal information could well be determined without the benefit of a doctor or genetic councelling. As with anything, information can be very powerful in the right hands or the wrong hands.

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