Genetics and Pop Culture

Perhaps you've been reading in the news lately about genes "for" autism, obesity, cancer, sudden heart attack . . . . . . and on and on.

What are all these reports about? 

Most of the reports you see are based on genome-wide association studies, or GWAS. You pronounce this acronym: gee wahs.

The genome, by the way, is the full set of DNA (the inherited material) in a human, mouse, yeast, or whatever is being studied. In most interpretations, genomics--the science of genomes--includes the study of environmental as well as genetic information. However, GWAS are usually studies of the DNA of large populations of people with disease X compared with 1) people who don't obviously have the disease or with 2) some sort of DNA standard.

Just in time for the holidays:

Users who accessed AAAGTCTGAC also bought:

• BioPet DNA Breed Identification Kit
• The DNA of Relationships
• DNA Nation iPhone Cover Sticker
• DNA by Bijan for Men -- Eau De Toilette

I couldn't resist playing with Amazon's announcement that it's making the Annotated Human Genome Data available via Amazon Web Services.

It all starts with a simple invitation from a friend: "You are invited to join the group Slow Caffeine Metabolizers", date, time, location. You are more likely to receive an invitation if you're one of those who has money and feels as comfortable in evening dress as in jeans and teeshirt. And, if you're "IN".

They call them "spit parties" and the plan is that--sometime in the evening--you will spit into a cotton-filled tube, donating enough of your DNA for a commercial operation to analyze it for single nucleotidepolymorphisms (SNPs). Meanwhile, you are building the sponsoring company's database.

Let's see if I can tell you what's happening without naming the company involved. . . .

Today, one of the companies offering genetic testing dropped its $999 price for a "full genome scan" to $399. Most of the stories I read were taken directly from the Associated Press release and quoted the company's CEO as saying, "The mission of the company has always been to enable anyone to be able to get access to their genetic information."

Hsien-Hsien Lei of the Eye on DNA blog recently asked readers to define genetics in one simple sentence. I tried, with the following:

Genetics is the study of the operating instructions for life.

To this could be added: Scientists look at how the instructions are passed from one generation to the next, how instructions differ from one living thing to another, and how the instructions work.

For a "young" audience, something modern--operating instructions--could be useful. Note that the second sentence distinguishes the various components of genetic study: inheritance, form, function.

Sure, you checked out what sports he likes, and whether he snores, but did you check his genes? Do you know that "men are more likely to be devoted and loyal husbands when they lack a particular variant of a gene that . . . [predicts] his aptitude for monogamy"?

According to a recent article in The Oregonian and other newspapers, this finding

. . . not only links the gene variant, which is present in two of every five men, with the risk of marital discord and divorce, but also appears to predict whether women involved with these men are likely to say their partners are emotionally close and available, or distant and disagreeable. The presence of the gene variant, or allele, also seems predictive of whether men get married or live with women without getting married.

Some time ago, my daughters suggested I write a "dummies" book about Genetics. I really don't like the series, but decided to think about it.

A few days ago, I did just that--think about it, that is--by checking out a link from some page that referred to genetics education sites. I found that there is already a Genetics for Dummies book, published in 2005, and written by a geneticist from the Northwest. 

Scooped again. But that leave more time for other things. 

If you're interested in reading this book, and other books on many, many topics, you can download free online versions. The site's bookmarked on my other machine, so I'll have to add it to this post in an edit. I had to register for and download an access program first, but could then download and read the book I wanted.

Wow, have I been out of touch lately! A few weeks ago, when I returned to Oregon after selling my home in Utah, I logged in and promised to start posting blogs again.

Didn't make it. So, let's try again.

My personal news is that the Godfrey genetic pool has been increased by one beautiful baby boy, born to first-time parents. He doesn't look like any family member in particular, but does have a couple of features we suspect are genetically determined.

Now that I have access more often to a computer, I will be trying to post more regularly.

Here are some subjects I'm finding of personal interest at the moment. Let me know how these fit with your interests.

Fans of late night t.v. are familiar with "the top 10 reasons . . .", which are always given tongue-in-cheek. But, today's entry from Wired has a more serious note to it. Here are their top 10 reasons not to prohibit Californians and New York Staters from purchasing and using genetic testing offered over the Internet:

10. Early adopters are far from naive.

Ask yourself who spends $1,000 for the privilege of spitting in a vial and sending it off to Illumina for analysis by microarray. These people are responsible geeks, technophiles, Wired readers -- not the average Joe. They know darn well what to expect from these tests -- trivia and increased self-awareness.

Just returned from a conference in Cleveland, Ohio, dealing with the many different aspects and potential effects of sequencing the human genome. I'll write in the next couple of days about items that particularly interested me.

But first, what is genomics?

I hate to admit it, but when I first joined a group at the Utah Department of Health to discuss genomics, I had no idea what it was. Surprising to me was the fact that others gave me quick definitions, but they varied considerably. So, here's some of the ones you might consider:

Wikipedia: Genomics is the study of an organism's entire genome. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of single genes, their functions and roles, something very common in today's medical and biological research, and a primary focus of molecular biology, does not fall into the definition of genomics, unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.