Where to Get a DNA Test Kit for $99; Top 10 Most Interesting DNA Findings of 2012

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By Vittorio Hernandez | January 9, 2013 9:53 AM EST

In 2012, 23andMe, the world's largest private genomics company, conducted DNA tests on 180,000 people to assess over 200 genetic traits and health risks. Since 23andMe brought down the price of a DNA testing kit to $99, the company expects to be deluged by requests for DNA testing in 2013.

Anne Wojcicki, co-founder of 23andMe and wife of Google entrepreneur Sergey Brin, said the company aims to serve one million clients by the end of this year. The company got its name from the 23 chromosomes in a normal human cell.

23andMe is based in Mountain View, California. Its personal genome test kit was named by Time Magazine in 2008 as the Invention of the Year. The kit was originally priced at $999, which the company substantially cut to $299 and further reduced to $99 in December 2012.

People can order the kit online through the company's Web site https://www.23andme.com/

The company started to offer DNA testing services in November 2007 and posts results online. Clients provided 23andMe a 2.5-millilitre spit sample and a swab taken from the inside of their cheek, which is analysed on a DNA microarray of illumina for 960,000 specific single-nucleotide polymorphisms.

Here is a video of how DNA sampling is done.

Despite the lower cost of DNA testing, critics such as doctors, bioethicists and geneticists expressed concern that people could be overloaded with information difficult for them to interpret and it could raise unnecessary health fears or false reassurances.

Ms Wojcicki, however, pointed out that through affordable DNA testing, people could have the opportunity to learn how their genetics could influence their individual health traits, risk for developing some diseases and conditions, reactions to different medications, inheritable conditions and ancestry.

In 2012, the top 10 DNA findings of 23andMe are as follows:

1.     A673T Variant - A very rare genetic variant protective against Alzheimer's disease is found in one in 10,000 people of European descent.

2.     ENCODE Project - Enlisted over 400 scientists in attempt to map the rest of the human genome by creating the foundation for a sort of encyclopaedia of the functions of the many of these uncharted areas of the genome.

3.     Noninvasive Prenatal Sequencing - Successful sequencing of a human fetus through noninvasive means using amniocentesis or chorionic villous sampling which do not carry the risk of potentially harming the developing fetus.

4.     New Insights into Myeloproliferative Neoplams - A group of rare blood disorders.

5.     New Insights into Human Origins and Evolution - Goes beyond the known tale of human early ancestry, journey out of Africa and intermixing with Neanderthals and Denisovans.

6.     Family Medical History and Genetics Combined to Predict Ailments - Through the development of a model combing the two in predicting disease risks.

7.     Biological Clocks of Older Fathers - Found that as men grow older, the number of de novo mutations they could pass to their children increases which could lead to higher risks of the infant developing autism and schizophrenia.

8.     Breast Size - Is influenced by genetic factors which are linked to the genetics of breast cancer.

9.     Cystic Fibrosis Treatment - Discovery that the FDA-approved ivacaftor (Kalydeco) targets not the symptoms but one of the underlying causes of cystic fibrosis, which is a specific genetic mutation.

10. No Genetic Associations of Autism - While twin studies suggest autism is at least moderately heritable, genetic variations play a smaller role than rare mutations or copy number variation in the risk of a person developing autism.

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