Talk

Congratulations to Amy Harmon who just received a Pulitzer Prize for her series, The DNA Age. Her series, with articles and videos, “explores the benefits and burdens of genetic information as it filters out of scientific laboratories into everyday life.” It’s fantastic reading for anyone interested in what DNA means to you and me, today, and most likely tomorrow.

I’ve posted on many articles from The DNA Age here at DNA Direct Talk. Here’s a sampling:

• Insurance Fears and DNA Tests
  
• A personal story of Huntington disease
• Ancestry, race and DNA
  

Ethical Issues Surrounding Personal Health Records: Google Health and the Cleveland Clinic’s announced a partnership this week and everyone’s buzzing about privacy, portability, and all things Google. “HIPAA” has officially entered the public vernacular. David Hamilton outlines privacy and other ethical issues at Venture Beat. Steve Lohr adds more at his NYTimes blog, Bits. Betsy Schiffman at Wired’s blog is a bit more blase.

Paternity Testing: A simple test, a sensational tabloid topic, and sometimes a sticky wicket of ethical issues, too. Identigene is now offering a drugstore paternity test, which they claim may be used for legal purposes. But legally admissable test results require chain-of-custody documentation. I wonder how a drugstore kit will swing that? Many of us here at DNA Direct take issue with Identigene’s support (encouragement?) of gathering DNA samples without the tester’s knowledge and consent. On a different note, the Wall Street Journal mentions that 1 in 25 births is a non-paternal event. I’ve heard tell in some medical circles that the rate of non-paternal events is estimated to be as high as 1 in 10 births.

And speaking of paternity testing. And twins… Hsien Lei trumped my posts on twins (as always) with her discussion about a paternity suit involving identical twin brothers. She explains more about how there can be genetic differences between identical twins, who hatch from the same fertilized egg.

…and Frank Sinatra, and Bill Clinton, and (insert your favorite famous blue-eyed person here). The Danish geneticist, Hans Eiberg, who pioneered research into understanding the genetics of eye color, now traces all blue-eyed people back to a common ancestor who lived 6,000 to 10,000 years ago, perhaps around the Black Sea near the Ukraine or Turkey.

About 10 years ago, Eiberg discovered the gene OC2, which helps determine your eye color. Now he’s discovered a mutation that “switches off” this gene, ultimately resulting in blue eyes. Because the mutation is extremely specific, all people with blue eyes have the exact same genetic variation, and anyone with brown or green eyes do not. As a result, says Eiberg said, the mutation must have come from a single ancestor. “It’s not a guess,” he says. “It has to be.”

Read more on how eye color is determined (and check out photos of blue-eyed celebrities) at Spiegal International news: (more…)

Business Week’s Debate Room has just posted a debate on insurance coverage for genetic testing. Frankly, it’s not much of a debate. The pros for insurance coverage are presented by Dr. Philip Reilly, an accomplished geneticist and thought leader. He summarizes the current state and likely future of genetic testing. The cons are presented by Greg Fish, an IT business analyst, who offers the usual fear-mongering.

Of note, industry publication Health Plan Week (formerly Managed Care Weekly) just ran an article on exactly this: “Insurers Are Considering Change to Coverage for Genetic Testing and Related Patient Counseling Services.” At this point, coverage isn’t a matter of pro or con, it’s really a matter of which tests and for whom. Genetic testing is here, payers see the promise, and they’re trying to find the best strategies for coverage.

Genetic tests available in the market today fall into four categories, [says Drew Fromkin, CEO of Clinical Data, Inc.]: (more…)

There’s a new twist (or lack thereof) on the question of how our biological clocks work. New research indicates that our biological clocks influence the activity of a large number of genes by causing the chromosomes to coil tightly during the day and relax during the night.

Read more and see neat illustrations

From Biomedical Beat:

When we go to sleep at night, our bodies have a chance to unwind. Our DNA may be doing the same thing. Vanderbilt University biologist Carl Johnson has discovered that the DNA of tiny blue-green algae—a simple organism with a biological clock—is coiled tightly during the day and more relaxed at night. This pattern allows certain genes to change their activity in light or darkness, essentially helping the organism tell time and suggesting why biological clocks influence so many biochemical processes. Although more research needs to be done, Johnson speculates that human DNA may also wind and unwind according to time of day.

Image: Blue-green algae containing a protein that fluoresces in response to the microbe’s biological clock. Courtesy of the Johnson lab.

Holy stealth mode, Batman! While everyone’s been buzzing about Navigenics and 23andMe — how they will be offering the first genome-wide array tests soon, what will they offer, how will people react to such information — that pioneering Icelanding genetics company, deCODE, just grabbed the spotlight (again).

Today deCODE unveiled deCODEme, the first consumer service for genome-wide testing. And it looks an awful lot like what we’ve been expecting from 23andMe and Navigenics. Here’s a smattering of what people have to say about it:

I think Nicholas Wade’s phrase “sample the whole genome” is misleading, but I’ll pass on this perspective:

The significance of most variation in the human genome is presently unknown. Most of the SNPs studied so far have been identified in the course of searching for the genetic roots of common diseases, such as cancer, diabetes and heart disease. Because the diseases are common, many people possess the underlying SNPs. So any interpretation of a person’s genome is at present heavily skewed toward generating ominous news. …
There are undoubtedly genes that promote longevity and good health but far fewer of these have yet been spotted. And environmental factors, too, can affect whether certain genes are ever activated.

(more…)

You see a UPI release like this one, and you think, “DNA advances fuel racism fears…or is it the media fanning those flames?”

Here’s my take: We’re talking genetic exceptionalism, again. The concept of “race” has always been a social construct, with a visual shorthand and local-history definition. Put simply, who did you look like and who was your family? Through social criticism and liberation theory, we’ve developed the vocabulary to appreciate race as cultural and historical identity. Our growing scientific understanding of biological differences don’t fit neatly into this paradigm.

If we consider the current scientific work in genomics — which is that DNA is just one piece of the -omics puzzle that is each individual person that includes the proteome, the methylome, the epigenome, and so forth — then, how can it be as simple as “You (and your race) are defined by your DNA.” Science has never been that simple, although rogue factions are always trying to make it so. (more…)

Although not directly related to genetics, it’s not surprising that we’ve been talking around the water cooler about the unauthorized preview of Google Health.

Says David Hamilton over at VentureBeat, “Overall, it seems a solid but unremarkable effort, one that probably wouldn’t even merit much attention were it not from Google. Of course, that makes all the difference, since a groundswell of patients who want their doctors to use Google medical records might actually encourage more doctors to adopt electronic systems.” Exactly. Never underestimate the power of the patient in an increasingly consumer-driven health care system.

See NYTimes coverage, an unenthusiastic review at In Vivo Blog, and colorful discussion at the Wall Street Journal’s Health Blog.

Technorati Tags: google health, microsoft, personal health record, preview, review, medical record

Ooh, a veritable grab-bag of reading and coffee break discussion in today’s Science Times! Don’t miss fun graphics, videos and other things high school science teachers might want to substitute for today’s curriculum.

I’m happy to see evo-devo getting the spotlight: From a Few Genes, Life’s Myriad Shapes. Here’s a teaser:

Since its humble beginnings as a single cell, life has evolved into a spectacular array of shapes and sizes, from tiny fleas to towering Tyrannosaurus rex, from slow-soaring vultures to fast-swimming swordfish, and from modest ferns to alluring orchids. But just how such diversity of form could arise out of evolution’s mess of random genetic mutations — how a functional wing could sprout where none had grown before, or how flowers could blossom in what had been a flowerless world — has remained one of the most fascinating and intractable questions in evolutionary biology. (more…)

I can’t help but blog about this, since Dog DNA seems to be such a popular dinner party topic. According to a study to be published tomorrow in Science, the genetic differences between dogs boils down to very little. In fact, just one gene, a “tiny bit of DNA that suppresses the insulin-like growth factor 1 (IGF-1) gene controls dogs’ size. (Try telling my stubborn giant dog that he’s just one gene away from a pug.)

The study’s lead author, Elaine A. Ostrander, is chief of cancer genetics at the National Human Genome Research Institute. Why is this gene exciting to her? Humans have the same gene suppressor, which is suspected of being involved in human dwarfism. Because the IGF-1 controls growth, it will further cancer research.

This isn’t the first time that dog genomic research has helped out humans, and no doubt it won’t be the last. Our trusted companions from hearth and home to laboratory bench….

Read the NY Times article

Technorati Tags: dogs, canine, genome, dna, genes, size, cancer, genetics, research

Stalking Strangers’ DNA to Fill in the Family Tree: How far would you go to find out about distant relatives and common ancestry with strangers? Many of the situations described here seem a little, shall we say, outside the bounds of propriety and into the realm of CSI. Have we all been watching too much crime TV?

ACS Recommends Regular Breast MRIs for Women at High-Risk for Breast Cancer: Listen to Elizabeth Morris from Memorial Sloan Kettering discuss the new guidelines on NPR’s “Science Friday with Ira Flato“. Women should consider annual MRIs if they’ve got a strong family history, if they’re a BRCA mutation carrier, if they’ve had chest radiation treatments for conditions such as Hodgkin’s Disease. As a caller on this program points out, recommendations are inevitably two steps ahead of the medical establishment and insurance coverage. If you’re interested in pursuing MRIs, head to the big cities and major medical centers for radiologists who can perform and accurately read these MRIs. Now, to call my doc for a referral for an MRI…. (Update: Check out Emily DeVoto’s Antidote for counterspin on these recs.)

Chimeras: A New Kind of Twin: For the first time, researchers have identified twins that are identical on their mother’s side (same egg), but share only half of their father’s DNA (different sperm). Dr. Vivienne Souter, lead investigator in the journal article reporting this finding, says that while the term semi-identical provides some idea of how the twinning occurred, it is “an oversimplification.” I’ll bet! But I can’t wait to hear more.

Technorati Tags: ancestry, nonpaternal events, dna testing, family tree, genealogy, medical guidelines, american cancer society, breast cancer, MRIs, screening, high risk, genetic chimera, twins, genetics, intersex, hermaphrodite

This week, we’re talking about science. Or rather, since this is a Week of Science, I’m only reporting on the science gossip over by the water cooler.

The development of a noninvasive test for fetal abnormalities. Here’s Medscape’s coverage, if you’ve got access.

The new screening recommendations for Down syndrome, what causes Down syndrome (trisomy 21), and why the occurence of trisomy 21 increases with maternal age. (My friend who just turned 40 is pregnant with her first child!)

FDA’s approval for over-the-counter sales of Alli (a.k.a. Xenical). Interesting that the OTC brand name sounds like your, you know, best girlfriend.

Technorati Tags: prenatal screening, down syndrome, weight loss drugs, alli, xenical, trisomy 21, nuchal cord screening, ultrasound

Francis Crick. Thanks to Matt Ridley’s recent book, Crick is back as the subject of cocktail party gossip. Recently, I re-read The Double Helix, James Watson’s account of their discovery of DNA. (I have the 1969 edition). The New Scientist has a great podcast interview with Ridley about how Crick was so unlike many great scientists of history: “Gene Genius“, 3 November 2006.

What Would You Do With a $1000 Genome? Nature Genetics asked the question of a five genomic leaders, and a number of bloggers, including RPM over at evolgen. Jason, I think this warrants a public perspective from The Personal Genome….

Waking up Earlier than the Early Bird. A genetic discovery behind familial advanced sleep phase syndrome may shed light on the complicated workings and regulation of the normal body clock. Insomniacs, take note, more hope!

Technorati Tags: francis crick, matt ridley, dna, discovery of dna, the double helix, 00 genome, fasps, genes and sleep, sleep disorders, genetics

Copy Number Variation in Our Genome. Over at Evolgen, RPM explains “recent work indicates that there’s also quite a bit of variation amongst individuals in the actual content of their genomes. Such variation is known as copy number variation (CNV) or copy number polymorphism (CNP). What it means is that some people may have one copy of a genomic region, other may have two, and even others may have none.” What does this actually mean? Read RPM’s commentary and Hsien’s explanation. Or, read Reuters’ boiled-down news. Or, check out Nature’s accessible but detailed article.

Proof is Scant on Psychiatric Drug Mix for Young. Many psychiatrists and parents believe that drug combinations or “cocktails” help for conditions such as ADHD. There’s a lot to be debated about this, and when it comes to children, all our concerns about drug risks are amplified. Studies in children are fewer, children’s bodies and minds are evolving, and children don’t usually get to choose for themselves. What do you think? (more…)

Yes indeed, colorful and humorous gene names are getting new, respectable monikers. I can’t believe we blogged about it before the New York Times covered it. Sure, it was only by a few days, but I’m glad to know we’ve got our finger on the pulse of quirky genetics news, too. I’m also glad to know people are interested in this sort of thing - of course, Sonic the Hedgehog probably had more to do with it than the lunatic fringe….

postscript: Hsien Lei’s got a list of names and some dialogue going about them over at Genetis & Health.

Technorati Tags: gene names, genetics, news

Get Your Genes On! Who’s watching the new TV show, Heroes? According to a local journalist, it reflects a cultural meme that sweeping the nation. From X-Men to ancestry DNA testing, people are getting their genes on.

Old Viruses Resurrected Through DNA. Is it Jurassic Park or Xerox Parc? A team of French scientists has rebuilt a virus that infected our ancestors several million years ago, and get this, they did so from current human DNA. The reconstructed virus is called “Phoenix” — a lovely literary allusion — and will be used to study the role of HERVs in cancer. HERVs, or , or human endogenous retroviruses, are viral DNA that are embedded in our genome. Scientists estimate that 8% of our genome is made up of this viral DNA.

Troublesome Gene Names Get the Boot. Who wants to be told they’re carrying the radical fringe gene?

The Dot-Com Bubble (and Bust) Reconsidered. Some of us at DNA Direct worked for start-ups back in the 90s, myself included. This article is casts a new light on the industry then, and is reassuring for us now.

Technorati Tags: ancestry, genetic testing, dna, virus, hervs, human endogenous retrovirus, human genome, phoenix virus, nomenclature, technology industry

Widespread Study - Adverse Drug Reactions. A study developed by the CDC, FDA and Consumer Product Safety commission shows that harmful reactions to medicines send more than 700,000 Americans to emergency rooms each year. Over 700,000. to the emergency room. The study’s authors and other experts agree that this number is probably low because bad drug reactions are also likely to be misdiagnosed. This is yet another reason why PGx testing can revolutionize medicine.

New Gene May Help Predict and Treat Chronic Pain. People who have a certain gene variant are at lower risk of developing severe chronic pain and are less sensitive to painful stimuli, researchers report. Besides the potential for diagnosing the risk of chronic pain, the discovery offers a starting point for identifying new painkillers.

Portraits of an Artist with Alzheimer’s. A talented artist throughout his life, William Utermohlen provided a window into the experience of Alzheimer’s from the individual’s perspective. While there are some genetic markers associated with Alzheimer’s, their relationship isn’t fully mapped out yet and so testing for risk isn’t ready for prime time. While DNA Direct often receives calls from people wanting “a genetic test for Alzheimer’s”, we don’t offer testing for multiple reasons (see the comments below this post).

In Case of Emergency: ICE Your Cellphone. To aid emergency workers, doctors are encouraging people to add an “ICE” contact into their cellphones. ICE stands for “in case of emergency” and provides emergency workers with a way to find your nearest and dearest, as quickly as possible, should you be unable to communicate with them. Everyone, go program your phones now!

Technorati Tags: adverse drug reactions, side effects, medication, statistics, genes, pgx, pharmacogenetics, painkillers, chronic pain, alzheimer’s disease, ice

New Theory About Inheritance Called Into Question. Researchers at UCLA say they are unable to repeat the results of experiments that were thought to reveal a form of inheritance previously believed impossible. Writes Helen Pearson in Nature this week, “In their 2005 Nature¹ paper, Bob Pruitt and his colleagues at Purdue University in West Lafayette, Indiana, challenged the textbook rule stating that offspring receive a mix-and-match of their parents’ genes. They suggested that some plants can instead convert their genetic sequences back into the code possessed by their grandparents or earlier generations — a discovery that sent ripples through the genetics community and beyond.”

Distaste for Sprouts in the Genes. Many months ago, we conducted a small study in our office on a gene variant that affects taste. Of of 8 employees who tested, one of us is a super-taster, a few are pretty strong tasters, and no one is a non-bitter taster. The test itself is a fun party trick. (Take it, see why.) Here’s yet another example of why I love my work: Where else does the director of business development runs around handing out little tabs of paper, instructing people “Put this on your tongue, then tell me what happens!”

Coffee: A Little Goes a Long Way. An entertaining news piece from NPR on the drug we can’t live with, can’t live without is dominating our coffeepot conversations. Okay, so this piece isn’t primarily about genetics, but as I’ve blogged in the past, coffee is a hot subject in our office, especially since Mr. High-Octane himself has recently de-coffeenated. (Ah, but will it last?) We’re not the only ones musing about coffee this week: RPM’s taking an informal poll.

Technorati Tags: genes, inheritance patterns, bitter taste, tastebuds, genetic test, coffee, caffeine

New, Promising Treatments for Cystic Fibrosis. Forbes has a long article on two drugs, Inspire and Vertex, that are in late stage clinical trials. The article has a great explanation of how cystic fibrosis on a cellular level causes its symptoms - breathing, lung, and digestive problems. (Forbes online is free, but they require registration)

Affymetrix to Launch a 1 Million-SNP Microarray. The new GeneChip will debut early next year, at around $500. Affy is also dropping the price of its 500,000-SNP genotyping to $250. More heralds of the fast-approaching age of affordable genotyping.

Couples Select Embryos to Halt Inherited Cancer. Part of the NY Times’ series, “The DNA Age,” this article explains how preimplantation genetic diagnosis, or PGD, can avoid the tranmission of fatal conditions like Huntington’s Disease as well as significant cancer risk genes, as the family profiled in the article chose to do. This technology and the use of it raises ethical issues and has many talking about what it means that this technology may only be accessed by those with the significant financial means. The Times, as usual, has a balanced discussion.

Update: A Genetic Code for Breast and Colon Cancer. The first draft is in, and The Biotech Weblog has the scoop. This is very exciting! The promise lies in both detection (with tests like PreGen Plus) and with targeted treatment.

Technorati Tags: cystic fibrosis, clinical trials, genotyping, genetic testing, GeneChip, preimplantation genetic diagnosis, huntington’s disease, inherited cancers, breast cancer, colorectal cancer, diagnosis, treatment

There’s a theme to our water cooler/coffee pot discussions this week: genes and women’s health.

Uterine Cancer May Be Clue to Inherited Cancer Syndrome: A new study showed that 1.8 percent (or about one in 50) of newly diagnosed endometrial cancer patients have inherited mutations for Lynch syndrome, a condition also known as hereditary nonpolyposis colon cancer, or HNPCC. Screening, of course, can reduce risk of further cancers.

Estrogen Therapy, Blood Clots & Genes: So we know that blood clots are usually caused by the confluence of a number of factors — things like being overweight, smoking, taking oral contraceptives, having certain genes. Any of these factors individually increase your risk, and multiple factors compound your risk. So if you’re considering estrogen therapy, you should weigh your cumulative risk for blood clots. The one thing most people don’t know about are their genes, but cheek-swab genetic testing is available for inherited blood clotting disorders.

Multivitamins, Pregnancy & Preeclampsia: If you’re planning a pregnancy, start taking that multivitamin pill now (if you don’t already). It’s a simple, easy thing to do and can significantly reduce your risk for preeclampsia, the leading cause of premature birth and maternal/fetal death. Research from the University of Pittsburgh. Hat tip to Gloria Gamat.

(One of these stories is not like the other, one of these stories is not about genes. But the doula in me says it’s something every woman should know.)

Technorati Tags: genes, women’s health, uterine cancer, estrogen therapy, HRT, blood clots, blood clotting disorders, pregnancy risk, preeclampsia, prevention

Genes and Drug Abuse: Most studies have been in Western nations where there is larger access to and use of illicit drugs. Now there’s a study from Norway supporting genetic risk factors.

Genome, Identity and Images: Scientist and photographer Ariel Ruiz i Atalba’s new show, “Evolving Identities in the Genetic Age.”

The Microbiome: We’ve got genomics, epigenomics, proteomics and now…microbiomics! The microbiome is another good argument for why genetics isn’t destiny.

Men’s Biological Time Clock: Research shows that with age, the genetic quality of a man’s sperm decreases, i.e., men who wait until they’re older to have children may have more difficulty conceiving and they may also increase the risk of having children with genetic problems. (Of course, they still have longer than we women do….)

Technorati Tags: genes, drug abuse, microbiome, sperm, fertility, infertility, risk factors, genome, photography, Ariel Ruiz i Atalba