Genetic Testing

Studying the function of the BRCA2 gene

Thousands, perhaps hundreds of thousands, women have had a genetic test for the BRCA1 and BRCA2 mutations association with higher risk for breast cancer. So far, it's been difficult to determine exactly what the genes do in humans, other than interfere with the function of two suppressors apparently needed to properly manage DNA replication and repair.

A recent article in PLOS Genetics, an open-access, peer-reviewed online journal, describes some experiments that have been conducted with the common fruit fly, Drosophila melanogaster, which also has a BRCA2 gene. The article is titled "Drosophila brca2 is Required for Mitotic and Meiotic DNA Repair and Efficient Activation of the Meiotic Recombination Checkpoint" and the abstract reads as follows:

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The genetics of autism

I was lucky enough to attend several scientific meetings this year, thanks to the Advocate Partnership program of the Genetic Alliance, and attended the session where one of the scientists involved presented the information being discussed in many media outlets yesterday and today about the genetics of autism. As you read, listen to, or watch the news presentations, note that the "large, non-inherited chromosomal deletion" being discussed is extremely rare and in no way accounts for all cases of autism. Also, the parents of affected children were themselves unaffected.

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Is genomics improving YOUR life?

The human genome has been sequenced. Genetic testing--according to media and advertisements—is available to help you determine how to live the rest of your life. The price for this information had dropped below $1000. Are we any closer to the promises of cures for debilitating diseases?

Douglas Kamerow, former US assistant surgeon general and associate editor of the British Medical Journal, in an article dated 5 January 2008, asks what have we gotten for our money?

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Genetic tests available online are a waste of time and money

At least three articles today indicate that experts around the world are finding genetic tests available through the Internet are a waste of time and money. Here are the three I sampled:

1. From Australia: Genetic testing over the net a waste of money says experts

. . .people who buy genetic tests from private companies are usually wasting their money. The specialists say the genome-wide scans on offer will provide little meaningful information because the science is still too preliminary.

They also believe the scans can mislead people into becoming either over-anxious about being labelled "high risk", or over-confident that they are at low risk of a particular disease.

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Cheap genome maps--under $1000?

The big hype this week in genetic testing comes from the addition of yet another company to those hoping that we are so interested in learning about ourselves that we will fork over $1000 (or $999 or $985 at a discount) for a map of our own genome.

Here are some things about this subject you might want to know:

1. How do you take a sample? You won't know the details until your kit arrives, but you will most likely learn that the sample will be saliva or a rubbing from the inside of your cheek. You don't have to provide a blood sample. If the company info doesn't provide clear enough instructions, be sure you rinse your mouth well before taking a sample; you'd probably hate to pay $1000 for the genome of that beef or corn you just ate.

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DNA testing and individual people

If you missed it, you should check out the article that appeared in the New York Times written by Amy Harmon. She titled it: My Genome, Myself: Seeking Clues in DNA. Amy writes in a put-it-down-on-as-it-comes-out-of-your-head style not unlike mine, so of course I enjoyed reading it.  

Amy was given the chance--and she accepted it--to be one of the early participants in the $1000 sales of whole genome analysis being offered online by several companies. In my usual policy of not naming specific companies, I'll let you check her article or use a search engine to find one.

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Can the true nature of race be revealed through genetic testing?

The text below comes verbatim from an excellent article I received through my genetic testing Google alerts. You can find the original at Genetic Drift: The True Nature of Race Colorlines, News Report, Ziba Kashef, Posted: Nov 11, 2007 Ever since scientists discovered “the secret of life” embedded in our DNA a half century ago, the study of human genes has sparked debate about the nature of race. The question seemed to be settled in the early 1970s when biologist Richard Lewontin compared variations in genes within and among different population groups.

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James Watson resigns from Cold Spring Harbor post

While attending the American Society for Human Genetics meeting in San Diego, I learned that James Watson has resigned from his post at Cold Spring Harbor. Frances Collins, also a well-known geneticist and Director of the National Human Genome Research Institute, stated in a news release this afternoon:

"I am deeply saddened by the events of the last week, and understand and agree with Dr. Watson's undoubtedly painful decision to retire in the aftermath of a racist statement he made that was profoundly offensive and utterly unsupported by scientific evidence."

I, too, am saddened by Watson's comments that referred to people of African descent as inferior in intelligence. As a geneticist, I am even more upset by his assertion that all genetic tests prove this. What irresponsible comments for a "father" of genetics!

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Genetic testing discussed by NPR

The National Public Radio site has an article posted online by Sarah Handel. The story includes also a link to audio of the broadcast. The story starts:

Our bodies are full of untold secrets about our futures. Turns out, predispositions for various diseases are plain as the nose on your face... If only someone takes a look at your DNA. OK, that's simplifying things, but there are now a variety of tests you can take to see if, say, a family history of breast cancer means you'll get it too. Or if you're going to pass cystic fibrosis on to your kids. Have you gotten tested? Do you want to? How much do you want to know about your medical future? What if one day, there's a test that will tell you how long you'll live (barring accidental death, of course)? Would you want to know? Is there a difference between knowing for yourself, and knowing about what genetic markers you could saddle your kids with?

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Genetic Design

There's an interesting article in this month's While primarily about 23andMe and the future of "Web-surfing your own DNA," the thing that caught my eye was the interactive feature.

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