Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues.
Disclaimer: Opinions expressed in blog postings may or may not reflect the opinions of Geneforum. In addition, the content provided here is purely informational and not a substitute for advice from your personal physician.
I'm so often negative about genetic testing--especially the kind available over the Internet--that I have wanted to give you readers a more positive outlook. So, here's a piece from the Daily Advertiser of Lafayette, Louisiana. I've included almost all of the article here--without permission--because I so appreciate Jan Risher's style. Her atricle is titled, Long Story Short: DNA gives grandmother's tales a little more weight. Here's the story:
. . . Lydia Myrene Henderson Risher Turman was a seamstress extraordinaire. She was also my grandmother. These days, she would be lauded as a shabby chic innovator, but when I was a kid, it was more like an old lady with grand ideas going through junk. But, she couldn't help it. She simply loved transforming cast-off items into something she considered beautiful.
Eighteen years ago, when our scientists pioneered preimplantation genetic diagnosis (PGD), it was widely understood how it could help very desperate couples build their healthy families. Today, we are able to test for essentially any identified genetic mutation. There are a number of genetic mutations specific to various types of cancer. By using PGD, we can dramatically decrease the risk of a couple passing on the defective genes specific to the cancer.
Families who know they are at heightened risk of passing along genetic diseases to their offspring weigh their reproductive choices carefully. PGD is one of several options and allows us to test for hundreds of mutations. With respect to defective cancer genes, we currently test for:
This morning I viewed yet another advertisement for a "new" genetic testing company. I wondered once again, "who benefits from this free advertising?'
The national morning news program touted this as an example of the way to investigate your genetic future. By simply spitting into a plastic cup and sending the sample to Company A, you can learn who and what you are now and what you will be in the future.
For once, the presentation was more factual than hype. Many statements were qualified by providing some idea of their limitations. For example, when asked how accurate these tests were, the company representatives stated the tests were very, very accurate. This is true. As DNA chips for analysis become more refined, false negatives and positives for specific SNPs (the very small portion of DNA being tested in a single "spot" of the test) are more closely known--but did the company representative give a number for accuracy? No; nor was any definition of accuracy given. Nor was there any discussion of whether SNP #18754638836 accurately predicts condition XORIRUEJGKLERUI.
We've all seen stories of people who traveled to a country other then the US to get medical care. We most often read about those who go for major surgery. Have you or anyone you know ever done this? Some readers are interested in hearing details. You can register on this site and give a name you make up. Your e-mail address--needed for registration--will be used only for confirming the message is not spam.
Let's hear from you.
Marie Godfrey, PhD
Are you considering using your rebate from the US government to buy a genetic test? Even if you get only $300, you could purchase a gender test to determine whether that new baby will be a boy or girl.
Or can you?
Karen Kaplan, Los Angeles Times Staff Writer, reported February 24, 2008 on the results found by one family when they had a gender test conducted.
The opera was great last night, Handel's Rodelinda. I continue to thank a friend in Italy for introducing me to the wonders of opera; I always thought it was just fancy singing.
Anyway, back to words. Yesterday, I started with a quote from Elisa Doolittle in My Fair Lady because I had been searching for information on the company offering free genetic testing and got lost in words. The three words I focused on were geneVIEW, wellness360, and flexSCAN. As far as I can tell--I'm waiting for more answers from the company itself--geneVIEW is the program for genetic testing offered by the company flexSCAN as part of its wellness360 program.
"Words, words, words . . . I'm so sick of words . . . is that all you blickers can do?" says the learning lady in My Fair Lady. Biologists, specifically geneticists, are often accused of using too many words to explain things. Much of science appears to be jargon--language specific to a science and understood by those "in the know" and oft-quoted without understanding by those "outside".
So, what does the word free mean to you? Without cost, having no monetary requirement, a gimmick, a come-on, what's the catch?
If you're a word nut, you may have noticed that the title for this entry has unreliable in single quotes, not double--this means the title is in UK English, not American English. So, there's no clampdown in the US, but one may occur in the UK, according to an article today in the Times online.
This is an interesting development to me because of my entries lately on paternity testing and because the company under British fire bills itself as "is the world's largest and most experienced private DNA testing laboratory. . . [performing] . . . 3 out of 4 private DNA paternity tests in the United States and . . . the DNA testing provider for over 900 affiliated partners in 168 countries."
A close friend of mine asked me some time ago what company she should order a confidential paternity test from. I told her I wouldn't dig deep into individual companies until she was able to tell me she knew what she would do with the results. I haven't heard from her lately on this subject, so she either went ahead and did something on her own or gave up the idea for now.
In the past week or two, a couple of people submitting comments to geneforum have asked for the name of a paternity testing company.
Mitochondria, the powerhouses of the human cell, are passed to offspring only from the mother. Dad's mitochondria are used to propel those sperm toward the egg. Mitochondria have their own DNA, and their own system of replication and translation; they reproduce by simple binary fission. Sort of like a bacterium. That's why Lynn Margulis, in 1970, proposed that they--and chloroplasts--were independent organisms that genetically modified existing cells by taking up permanent residence in their hosts.
Click on Read more to see what they look like.
This photo was so beautiful, I couldn't pass it up. I took if from another source, which has not been updated since 2002. Don't know where it came from before that.
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.
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?
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.""
We are often asked about PGD - what is it? who does it help? how does it work? This post will attempt to answer these questions at a high level. Individual questions are welcome and will be answered.
PGD (preimplantation genetic diagnosis) is a laboratory procedure that is used in conjunction with in vitro fertilization (IVF) to help detect certain diseases. Families affected by essentially any inherited disease can reduce the risk their offspring will suffer that genetic disorder by working with an experienced PGD team. Even families in search of a bone marrow donor may be able to use PGD to bring a child into the world that can provide matching stem cells. 20/20 recently ran a story on a family who chose this path (12/21/2006).
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