Fetal Gender DNA Tests Answer Common Pregnancy Question…Or Not

by Dr. Hsien-Hsien Lei
Posted February 27, 2008 in DNA Podcasts and Videos, DNA Testing

I am now 26 weeks pregnant with my second baby and the second most popular question people ask me is: “Do you know if it’s a boy or girl?”* And, yes, we do know based on an ultrasound at week 22. Of course, the technician would say nothing more confirmatory except: “It appears to be a girl. I saw the McDonald’s sign. Three lines together looking like a hamburger.” (The following is not my own ultrasound.)

Fetal gender prediction is big business. Some parents, like us, just want to know so as to prepare for the new arrival. While others have strong cultural and personal preferences. Unless parents have availed themselves of sperm sorting or preimplantation genetic diagnosis, people previously relied on the following methods to figure out if their baby is a boy or girl (from Pregnancy & Childbirth at About.com):

• Ultrasound
• Amniocentesis
• Chorionic villus sampling (CVS)
• Old wives tales
• Chinese lunar calendars
• Fetal heart rate
• Belly size and shape

The latest and most controversial way of determining a baby’s sex is by analyzing the mother’s blood for fetal DNA. Two such tests are the Early Baby Gender Mentor and Pink or Blue Early Gender Test. A mother who’s pregnant with a boy is expected to have circulating amounts of Y-chromosome DNA. If no Y-chromosome bits are detected, then the baby is presumed to be a girl. But, of course, it’s not so straightforward.

Last summer, Karen Kaplan of the LA Times began gathering personal stories for a piece on gender DNA tests that was published this past weekend: Accuracy of gender test kits in question. The focus of the article is on sex determination but there’s also mention of quality control issues in the genetic testing market.

Marketing directly to consumers, the new crop of companies has jumped into a realm of dubious science, mining DNA to offer information on ethnic heritage, long-lost relatives, personalized dieting plans — even the sports for which one is best suited.

The tests are loosely based on legitimate scientific research, much of which has been funded by the National Institutes of Health, among others. But often, the companies’ claims of accuracy have not been backed up by independent laboratory analysis.

Thousands of consumers have bought tests — and analysts say the number will only grow as entrepreneurs find more ways to market the mysteries of the human genome.

The Federal Trade Commission, which protects consumers from false and misleading advertising, has warned buyers to be skeptical of at-home genetic tests, which are now unregulated.

In most cases, customers have no way of judging if their test results are accurate. But if a prenatal gender test is wrong, parents will surely find out.

Some consumers of genetic testing services, like Dr. Ann Turner, will test their DNA with more than one company, but most people rely on only one test from a company that may or may not have standards that indicate good business practices. We cannot rely on regulation from government bodies like the FDA even though they have been discussing what to do.

Here are my tips for choosing a reputable genetic testing company (also see my tips for how to prepare yourself for a genetic test):

1. The company should state specifically the genetic markers they are testing and the reasons for selecting those marker for the test.
2. The company should have a clearly stated standards page that demonstrates their commitment to quality.
3. The company should say which labs are processing your DNA sample and indicate certifications, such as CLIA.
4. The company should have clearly stated contact info that includes mailing address, phone number, and emailing address.
5. The company should respond quickly to any queries you may have.
6. The company should have a good reputation which you can check online via search engines, such as Google.

While mistaken results from genetic genealogy testing may not affect life or death decisions, the same can’t be said for medical genetic testing or gender determination DNA testing. As William Saletan said in Slate:

Notice how the new transforms the old. What’s old is sex selection: choosing whether to abort your fetus based on whether it’s a boy or a girl. What’s new is the combination of ease, safety, and privacy with which you can now do this deed.

According to a UK Parliament publication (pdf), here are some of the reasons why a family may want to engage in sex selection.

• There are several hundred known genetic diseases that affect only males – e.g. haemophilia and Duchenne’s muscular dystrophy.
• Family balancing
• Rebuild a family after the death of a child with another of the same sex
• To fulfill a general preference for children of one sex over another because of economic, cultural or social reasons.

Whatever the reason for sex selection/preference, it seems that predictions are often inaccurate and babies are born every day who surprise their parents by being the opposite of what they’re “supposed to be.” I’m lucky enough to be happy with whatever our little one turns out to be. Sadly, that’s not the case for everyone.

Just for fun, here’s a music clip from Headless Hens, a song from Human Future that includes a stanza about genetic engineering babies (HT: Question Technology):

Perfect world, just in time
Perfect babies, by design
Purge the ones that can’t run
Judge the lives won’t be much fun
Labs getting patents, DNA owning
Remaking people, through human cloning

Used to love any kid that breathed
But now we don’t want ‘em unless they’re Ivy League

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*The most popular is: “When are you due?”

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DNA Video: Dr. Kari Stefansson of deCODE genetics

by Dr. Hsien-Hsien Lei
Posted February 23, 2008 in DNA Podcasts and Videos

Kari Stefansson M.D., Ph.D, CEO of deCODE genetics talks about deCODEme.

Tags: kari stefansson, decodeme, decode, genetics, genes, dna, health, personal genomics, genomics

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DNA Video: deCODEme

by Dr. Hsien-Hsien Lei
Posted February 16, 2008 in DNA Podcasts and Videos

deCODE genetics introduces deCODEme, a revolutionary new service that allows individuals to have their own genome scanned.

via ScienceRoll

Tags: decode, genetics, genes, dna, decodeme, genomics, personal genomics

(3 comments)

DNA Podcast: Gene Journalism on BBC Radio 4

by Dr. Hsien-Hsien Lei
Posted February 14, 2008 in DNA Podcasts and Videos

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Gene Journalism 11th Feb 08

Can we rely on reports that link various illnesses and conditions with our genetic make-up? Guests: Michael Blastland, author of ‘The Tiger That Isn’t: Seeing Through a World of Numbers’ John Illman, former chairman of the Medical Journalists Association

HT: Snowy

(>> Start a discussion!)

DNA Videos: Genetic Testing on NBC Nightly News

by Dr. Hsien-Hsien Lei
Posted February 13, 2008 in DNA Podcasts and Videos, DNA Testing

Yesterday, Robert Bazell of NBC Nightly News continued the series, The Truth About DNA, with The downside of DNA testing (video below). I admire their willingness to tackle such a timely topic but with segments of less than three minutes, not much can be explored. The general gist of the genetic testing videos is negative with a focus on Myriad’s BRACAnalysis genetic test for breast and ovarian cancer risk. Of course, it’s safer to recommend we all stay away from the scary unknowns of genetic testing but I firmly believe that educated consumers should be allowed to make their own decisions without the controlling arm of babysitters.

In the above video which was aired, Hank Greely of Stanford Law School says he’s “scared of what’s going on in the genetic testing marketplace.” Bazell follows up with a blog post saying, “There is a frightening lack of government regulations.”

Are they easily scared? Or is there merit to their fear?

I think it’s a bit of both. When it comes to our DNA, any sane person would feel some trepidation especially if they’ve got an overactive imagination like me. It seems we have two choices:

1. Get a glimpse of what might be in store for our future health.
2. Cross that bridge when we get to it.

I’d guess most of us fall into the second category and there’s nothing wrong with that! Life is far from certain especially when it comes to the predictive power of genetic testing. I may test positive for a cancer gene and get run over by a bus tomorrow. Would it matter then?

Yale genetic counselor Ellen Matloff believes it would because of the impact genetic testing results have on extended family. Here’s her golden quote:

The genetic test you have is only as good as the interpretation.

Matloff recommends that people undergoing genetic testing send a letter to their family members inviting them to an open discussion of the results. Here’s a sample letter you could use courtesy of me:

Dear Mom and Dad,

I bought a $1,000 DNA test last month. It wasn’t painful at all. Although when I saw that I might have inherited the gene for short temper, I wanted to put a fist through the wall. So I guess I was right to blame you for everything. Let me know if you want to talk about our DNA some more.

Love,
Johnny

(JUST KIDDING!!)

More videos below the jump.

Continue reading…

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DNA Video: The Truth About DNA on NBC Nightly News

by Dr. Hsien-Hsien Lei
Posted February 12, 2008 in DNA Podcasts and Videos

This week’s NBC Nightly News features a special series from February 11 through February 13 called The Truth About DNA. Stories include Genealogy For Sale (video below), Testing Your Genes, and Criminology.

HT: GENEALOGY-DNA

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DNA Podcast: Futures in Biotech with Dr. George Church Part 2

by Dr. Hsien-Hsien Lei
Posted February 11, 2008 in DNA Podcasts and Videos

More than four months after Marc Pelletier first interviewed Dr. George Church for the Futures in Biotech podcast, he’s back in Part 2: From Human Genome Project to Your Genome Project.

Well, I [Marc Pelletier] wanted to have him back to discuss two technological revolutions that are currently happening in biotech. The first is the personal genome. Why do I call it a revolution, as opposed to an evolutionary technological step? Because it changes how we make medical decisions: from being based on statistics and family histories, to decisions that are based on our true molecular anatomy, our own genome. The second revolution is the new field of synthetic biology: creating tailored organisms, not by simply adding or subtracting a single or a few genes as for GM foods, but redesigning organisms from scratch. Dr. Church has been a key player in both these revolutions and his insights are just about the best out there.

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DNA Video: 23andMe Genetics 101 Part 4

by Dr. Hsien-Hsien Lei
Posted February 9, 2008 in DNA Podcasts and Videos

New personal genomics company, 23andMe, created a series of videos introducing basic genetics concepts. Have a look at part 4 - What is phenotype? (Watch part 1, part 2, and part 3.)

Tags: genetics, genes, dna, personal genomics, genomics, 23andme, science, video

(>> Start a discussion!)

DNA Video: 23andMe Genetics 101 Part 3

by Dr. Hsien-Hsien Lei
Posted February 2, 2008 in DNA Podcasts and Videos

New personal genomics company, 23andMe, created a series of videos introducing basic genetics concepts. Have a look at part 3 - Where do your genes come from? (Watch part 1 and part 2.)

Tags: genetics, genes, dna, science, video, 23andme, genomics

(>> Start a discussion!)

DNA Video: 23andMe Genetics 101 Part 2

by Dr. Hsien-Hsien Lei
Posted January 26, 2008 in DNA Podcasts and Videos

New personal genomics company, 23andMe, created a series of videos introducing basic genetics concepts. Have a look at part 2 - What are SNPs? (Watch part 1.)

Tags: genetics, genes, dna, 23andme, personal genomics, genomics, science, video

(>> Start a discussion!)