05 October 2010

Genes & Teens: Family DNA analysis

Everyone - even teenagers - are interested in DNA these days.

The Wall Street Journal carried a great "teens and genes" story.

Ann West, 17, of Cupertino, California can be called somewhat obsessive about analyzing her family's DNA.

The self-taught teen has been decoding her family's genome and has spoken at major conferences

Her father was diagnosed with a pulmonary embolism in 2003, which encouraged him to get the family's genes sequenced using advanced technology at Illumina, Inc. The cost: $160,000 for the four people in the family. He wanted to know if anyone else in the family might be at risk for the same condition.

In 2007, they tested with 23&Me and received a break as Anne's father worked at Illumina, which offered a testing discount for employees. But he wanted to know more, and went for the full-genome testing for everyone.

Anne is the one analyzing the reams of data that is not interpreted by most testing companies. According to the story, it doesn't usually matter as most clients are academic scientists who have a cadre of assistants and the newest computers to do the work.

The teen - without those resources - decided to do it the "old-fashioned" way, by hand, on the family computer, using a Microsoft Excel spreadsheet to sort the information.

She's presented at major genetics conferences in Boston and New York, where scientists gave her their business cards, and her research led to a summer job at the lab of a prominent Harvard and MIT scientist.
She then created a series of formulas, using Excel's help function when she got stuck. One formula separated which portions of genetic data came from Mr. West's side of the family and which came from Mrs. West's side. That information helped her to plot graphs to see how genetically close she and her brother are to each other, and to each of their parents.

The next step was to look more closely at one of the 20,000 genes we all have. Anne focused on the Factor V gene. She inherited the same mutation that her father has, putting her at increased risk for embolisms.

She decided to see if she had any other additional mutations on the same gene from her mother's side of the family—something that might increase her risk even more. She discovered that she does have other mutations, but that researchers don't believe they will cause any health issues.
What's next on her agenda? Well, she says she hasn't yet taken driver's ed.

Read the complete story at the link above and read Anne's comment following the story.

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