The Genetizen

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.

As a citizen of the United States, you are entitled to comment on actions being considered by your government. The issues of genetic privacy and genetic discrimination reached the forefront again this week as the Equal Employment Opportunity Commission (EEOC) released the text of a proposed rule for implementing the Genetic Information Non-discrimination Act (GINA).

Many people think that, because GINA was signed into law, they are now protected from insurance and job discrimination on the basis of their genetic information--not true. the "devil is in the details" applies here as in many other situations. 

The January 2009 issue of the New Scientist features two special investigatory articles on genetic privacy.

"Who's Testing your DNA?" Stealthy paternity and infidelity testing can destroy privacy and tear families apart, but the law is struggling to keep up – New Scientist investigates.

Here's an example of ways in which the UK is doing things you don't hear much about in the US:

EuroGentest extends genetic patients information leaflet series by popular demand.

Professionals and patient groups across Europe welcome continuation of pioneering work by EU-funded project.

Following the major success of its initial 11 patient information leaflets on key topics in genetic disease and genetic testing, EuroGentest, an EU-funded Network of Excellence, has embarked upon a new series. Professionals and patient groups across Europe have identified the need for guidance and information on specific topics such as predictive testing, carrier testing as well as a generic “What Happens in the Genetics Laboratory” guide.

We've started posting presentations from a number of our community talks to SlideShare. Our first one is entitled "The Genomics Policy Process: Forming Partnerships Between Citizens, Experts, and Policy Makers," by Drs. Fowler, Allison, and Garland at Translating ELSI: Ethical, Legal and Social Implications of Genomics, Case Western Reserve University, May 3, 2008.

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.

News sites and genetic blogs have been abuzz over the past few days with the ATLAS Sports Genetics' release of a genetic test to determine kids' athletic ability. ATLAS isn't the first to offer the test, but the company's site trumpets:

Finding any great Olympic champion normally takes years to determine.
What if we knew a part of the answer when we were born?

There are a number of ethical questions raised by that statement and the implications of these tests, which many others have been writing about (e.g., here and here). However, I'd like to raise some concerns about the company's use of genetic information, its privacy policy, and marketing practices.

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.

While many people, especially in the US, have become focused on the genetics of health, many times that number have their health determined almost solely by social factors. You have to have food and water long before you are rich enough to worry about inheritance as a factor in your health.

An article in the Australian News today puts the issue into clearer focus with its title, "Being poor kills":

For instance, a boy living in the Glasgow suburb of Calton is expected to live to 54 - 28 years less than a boy born in affluent Lenzie nearby. 

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.

There has been a plethora of recent articles on the Beijing Olympiad ranging from "Let the Games Be Doped" and "The Amazing Adventures of Gene Doping Man" to "Doping Scandals Cast Shadow on Athletic Success" to "Drugs of Olympic Desperation: A Survey of Banned Substances".