Public Health Genomics

Genetic discrimination vs. equality

Time magazine includes an essay in response to sending GINA (Genetic Information Nondiscrimination Bill) on to the President for his signature.

Sidenote: why hasn't he signed it yet? Perhaps he's setting up a good photo op akin to the carrier picture.

Anyway, Michael Kingsley thinks that discrimination on the basis of genetic information is no different from any other type of actuarial discrimination followed by the insurance companies. After all, they reject customers with other problems (diabetes, cancer, etc.), why not genetic information?

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ELSI: Ethical, legal, and social issues of genomics

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.

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Future uses of whole-genome samples and data

The final issues discussed in the article, Research ethics and the challenge of whole-genome sequencing focus on the fact that researchers, biobanks, companies that may fold tomorrow hold your DNA once you submit it for analysis. In signing an informed consent for your DNA to be sequenced, and maybe even for the information to be published publicly, you are giving up your autonomy. You--in the form of the genetic material that makes you who you are--now is available to others.

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Genome sequencing--obligations to close relatives

This is part 2 of the discussion of the issues raised in the Nature Reviews Genetics article, Research ethics and the challenge of whole-genome sequencing. The article itself is available only to those with library access or a journal subscription. As in earlier entries, quotations and indentations identify text taken directly from the article.

I wonder. . . did James Watson or Craig Venter ask their relatives whether they agreed to them having their whole genome sequence posted for the public to see? What about the 9 volunteers for the next public batch of genome sequencing?

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Genome sequencing--how are results reported?

What kind of data should be provided to those who have their genome sequenced?

This is the first issue raised by McGuire, Caulfield, and Cho in their Nature Reviews Genetics article, Research ethics and the challenge of whole-genome sequencing. In the following, I have taken their text and added some text of my own. The authors' text is in quotes or indented.

 "Should participants simply be given their raw sequence data?"

"James Watson received a miniature hard drive with his entire genome sequence. For most individuals, this form will be meaningless." Most of the rest of us are unlikely to be able to interpret a raw-data presentation. "People who consent to have their genome sequenced," whether for research or personal use, "are likely to want to learn more.""

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Whole-genome sequencing--issues and recommendations

As regular readers of this blog know, I get alerts every day on genetic testing, gentics, etc. and read through those for ideas for this blog. I generally choose ones that are of interest to me and I hope to those reading Genetizen. Unfortunately, some of the alerts relate to professional publications which many of you cannot access. When this happens, I request a reprint from the corresponding author and give you as much as I can about the article..

An article titled, Research ethics and the challenge of whole-genome sequencing, an advanced online publication of Nature Reviews Genetics 18 December 2007 struck my I've-got-to-blog-about-this bone. Timothy Caulfield, one of the authors, was kind enough to send me an electronic copy of the full article. You can obtain the same yourself if you have access to a library that carries Nature Review Genetics, a subscription, or the authors e-mail address, which I will be happy to provide in response to comments on this blog. Because of copyright issues, I cannot simply post the entire article

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How to find specific blog entries

Because our organization is currently operating on no outside fundiing, we've chosen to keep our website simple. One loss, as far as I'm concerned, is the inability to search for specific blog entries using key words. I'm sorry that is the case. A search engine that is not flexible enough to find what you are looking for is worse, we believe, than nothing.

So, here's what you do if you are interested in a particular topic: click on the linkis at the left, by subject. There was only one entry in bioweapons--the blogger quit almost immediately, so that's not on the list. However, the other general topics are. They look really weird, you say. That's true, but for some programming reason I do not understand, such topic lists look weird on a number of sites--including those written by professionals who really know their html, etc.

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Genomics lectures begin Jan 15

On January 15, the National Institutes of Health is beginning a series of lectures on Current Topics in Genome Analysis. If you do not live in striking distance of the location of the lectures (Lipsett Amphitheatre, NIH Clinical Center (Building 10), on the NIH campus in Bethesda, Maryland from 10:00 am to 11:30 am), you can get all the information you need from the website. Lectures will be available online after the live lecture is finished and DVDs will also be available. There should not be any charge for either.

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Genetics education in the genomics age

I was once lucky enough to teach genetics to an advanced placement biology class in high school and was able to teach Mendelian genetics after teaching about DNA, RNA, etc. I also had my students read Huxley's Brave New World. In the Mendel unit, they did fruit fly crosses and were to use their results to respond to Mendel's letter about the seven "inheritable units" he studied. They had to identify and name the mutation they were studying, then follow its inheritance through two generations. What mattered in the final analysis was how they interpreted their data in comparison with Mendel's predictions. Naturally, I chose mutations that didn't seem to fit predictions.

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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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