[ExI] LA Times: Accuracy of gender test kits in question

[PJ Manney]

I've often wondered about the issues of accuracy around the
popularization of DNA testing.  Even though we can test for so many
different things, there's little responsibility for accuracy -- so
far.  It's still in the novelty phase, a Magic Eight-Ball of medicine.

Magic Eight Ball says... <shake, shake, shake>... "Ask Again Later."

PJ

http://www.calendarlive.com/tv/radio/cl-sci-gender24feb24,0,257468.story

Accuracy of gender test kits in question
The modern-day equivalent of old wives' tales, they can have far
greater consequences than inappropriately colored nurseries.
By Karen Kaplan
Los Angeles Times Staff Writer

February 24, 2008

Amid the tumult of the delivery room, Rohit and Geeta Jain were calm
about one thing: Their new baby was sure to be a boy.

Six months earlier, the Jains had spent more than $300 for a test that
screened a minute quantity of Geeta's blood for traces of male DNA.
The testing company said it was 95% accurate in determining the sex of
a baby, even as early as the eighth week of pregnancy.

After six hours in the delivery room, Rohit gaped as his wife gave
birth to a daughter.

"There's only two choices -- either it's a boy or a girl," said Rohit,
35, a computer scientist in the Vancouver, Canada, suburb of Surrey.
"I couldn't fathom how it could be wrong."

Like scores of other expectant parents, the Jains had stumbled into a
corner of the booming genomics industry and discovered that the claims
of some genetic entrepreneurs have gone beyond what science can
provide.

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.

The tests, scientists say, are the latest incarnation of old wives'
tales about salty food cravings, hairy legs and belly shapes denoting
the sex of the impending baby. This time, the predictions are being
sold with the patina of cutting-edge genetic technology.

A host of companies, such as Acu-Gen Biolab Inc. of Lowell, Mass., and
Consumer Genetics Inc. of Sunnyvale, Calif., have been selling the
tests for $249 and up. Critics say they are banking on most
disgruntled parents being too happy -- or too busy -- with their new
child to file for a refund.

The consequences aren't merely financial.

"I wouldn't have had an abortion, but there are women out there who
experience really big disappointment," said Jolene Sodano, a
stay-at-home mother in Nazareth, Pa., whose daughter was mistakenly
identified as a boy. "They really want to give their husbands the
little boy they want, or a little girl, and they will abort based on
these results."

More than 100 women have filed a lawsuit against Acu-Gen and its
owner, Chang-ning Wang, that is pending in federal court. At least one
customer has been questioned by the FBI. Wang has repeatedly declined
to discuss the scientific validity of the test.

"It made me very angry at myself for believing this gibberish," said
Mandana Kouroshnia, a Redlands dentist who joined the suit after her
test incorrectly predicted a boy. "I made a fool out of myself."



Ripe for exploitation

The rise of direct-to-consumer genetic tests has come with surprising
speed after the decoding of the human genome in 2000. Today, about
1,400 different types are being sold to consumers.

In the past, virtually all testing was done in medical laboratories
for diagnostic purposes, such as searching for the mutations in the
BRCA1 gene that are related to breast cancer.

But the development of faster and cheaper machines to sequence
specific genes quickly gave entrepreneurs an opportunity.

Any trivial genetic quirk can be ripe for exploitation. Consumer
Genetics, for example, offers a $139 test called CaffeineGEN that
screens for a DNA variant that causes caffeine to be metabolized
slowly and is associated with an increased risk of miscarriages and
nonfatal heart attacks. The company is also developing a test for a
gene variant that might allow people to lower their cholesterol levels
through moderate wine consumption.

Both tests are based on documented genetic aberrations, but there has
been no proof that they can accurately predict health outcomes.

The gender tests got off to a splashy start in June 2005, when
Acu-Gen's Baby Gender Mentor was featured on NBC's "Today" show. Holly
Osburn, then seven weeks pregnant, went on the morning program to find
out whether her third baby would be another girl or her first boy. On
live TV, she appeared to force a smile after being told to expect a
daughter.

The company's website said its $275 test was able to detect fetal
genetic material as early as five weeks after conception with up to
99.9% accuracy.

Other companies soon began popping up. Consumer Genetics introduced
its $195 Pink or Blue test in 2006, promising on its website 95%
accuracy just seven weeks after conception. The company has sold more
than 3,500 kits, said Lily Nguyen, the company's product manager for
Pink or Blue.

It may seem a frivolous use of DNA. But the genetic tests are
relatively inexpensive, and some parents figure there is no harm in
learning the sex of their baby a little earlier than the usual 10 to
16 weeks needed for traditional medical tests, such as ultrasound.

For the Jains, the test was for more than mere curiosity.

Geeta discovered the Pink or Blue test on the Internet after an
unexpected pregnancy presented the couple with a dilemma.

She wanted to keep the baby, but Rohit wasn't sure. With two daughters
already, the family's finances were a bit strained. Could they really
afford a third child?

Geeta countered with another question: What if the baby were a boy?

In traditional Indian culture, sons are prized because they will grow
up to manage the family resources and support their parents in old
age, even lighting their funeral pyres.

All Geeta had to do was prick a finger and mail a sample of dried
blood to the company's laboratory.

"I don't know anything about biology, but it looked like it should be
true," Rohit said. "It's DNA. It cannot be wrong."

The results arrived in March and stated that the baby was a boy. Geeta
was ecstatic. Over the summer, she traveled to India for three weeks
and offered prayers of thanks for the son she was carrying.

The Jains had no reason to doubt the test until their daughter Anika
was born. Though incorrect results are usually revealed during routine
ultrasound exams, fear of gender selection prevents many Canadian
doctors from revealing a baby's sex.

After the initial shock and a tinge of sadness, the family quickly
bonded with Anika, Rohit said, adding that they never bothered to seek
a refund. "Anybody can start this business and keep half of the money
even if they refund for wrong results, according to the law of
probability," he noted.

The reasons for taking the tests are as varied as the families that buy them.

Erin Rivera, a homemaker in Zephyrhills, Fla., took the test in her
ninth week so she could share the news as soon as possible with
husband Anthony, who was deployed in Afghanistan with the Army
National Guard.

"Horrible as it sounds, in case anything had happened to him, I would
have liked to let him know he was having a son or a daughter," said
Rivera.

The test was right. They had a boy.

Adinda DeBoevere, a mother of three boys in Novato, Calif., wanted a
girl so badly that she and her husband spent $25,000 on in-vitro
fertilization so that doctors could select female embryos to implant
in her womb.

"You keep on asking, 'Did it work? Did they put the right embryo in?'
" she said. To find out, the former criminologist took a DNA test when
she was 10 weeks along.

The test said a boy. They had a girl.



Scientific studies

A baby's gender is determined by one of the 23 pairs of chromosomes in
the human genome. Mothers always contribute an X chromosome. If the
father provides another X, the baby is a girl. If the father supplies
a Y, the baby is a boy.

Scientific studies have found that a pregnant woman's blood contains a
small amount of fetal DNA, and the gender tests claim they can detect
signs of the Y chromosome even if the embryo is no bigger than a grain
of rice.

The problem is that divining traces of DNA from maternal blood is not simple.

Science has tried for more than a decade to find a simple and accurate
way to determine gender early -- and largely failed, using the most
advanced technology available.

In a 2004 study, five medical centers in a National Institutes of
Health consortium received identical blood samples from 100 women who
were 10 to 20 weeks pregnant.

The centers used the same method to look for Y chromosomes in the
maternal blood, but none was able to detect all of the 35 fetuses
known to be male. According to the study, the detection rates ranged
from 31% to 97%.

Italian researchers published a study in 2005 demonstrating that they
could correctly identify 98.7% of boys and 100% of girls by looking
for male DNA in maternal blood drawn during the first trimester. But
their method required a relatively large blood sample -- 10
milliliters -- that was processed within a few hours.

The companies, in contrast, require just three to 10 drops of dried
blood, which can take days to arrive through the mail.

Laura Cremonesi, senior author of the Italian study, said that she
doesn't know anything about the companies' laboratory procedures and
has no idea if their methods would work.

Nguyen, of Consumer Genetics, said the Pink or Blue test is more
sensitive than the one used in Italy because it looks for a DNA marker
that is 100 times bigger.

"There's more of it, so it's easier to spot," Nguyen said. For
competitive reasons, she wouldn't give any specifics about the
particular sequence of male DNA that the company searches for.

She didn't know how many customers had complained of an incorrect
result, but she acknowledged that early versions of the test didn't
make it clear that women had to be at least seven weeks' pregnant
before taking it and that DNA from their husbands could contaminate
the results.

Acu-Gen's website lists dozens of clinical studies that it says
corroborate its approach, though none of them involved the specific
DNA sequence that Acu-Gen says it uses in Baby Gender Mentor and none
reported accuracy as high as 99.9%.

A woman who answered the company's phone said she was "not interested"
in discussing the test's accuracy. Other calls and e-mails to Acu-Gen
were not returned. In court filings, the company denied "any
wrongdoing and any liability" in connection with incorrect test
results.

Diana W. Bianchi, a medical geneticist at Tufts-New England Medical
Center in Boston who worked on the 2004 NIH study, said that little or
nothing is known about the companies' methods.

"There's no evidence that they've undergone any quality assessment,"
she said. "As best as I can tell, anybody can set up a virtual shingle
and open for business."

Complaints about the companies and the lawsuit against Acu-Gen have
prompted Bianchi and others to call for federal regulation of the
industry.

Currently, the tests are not regulated by the Food and Drug
Administration because they aren't used to diagnose a medical
condition, said spokeswoman Karen Riley.

Gail Javitt, law and policy director of the Genetics and Public Policy
Center at Johns Hopkins University, said that gender tests could be
considered diagnostic because some diseases are sex-specific. Nearly
all patients with Duchenne muscular dystrophy or the blood clotting
disorder hemophilia, for instance, are males.

Bianchi added that there is more at stake than just lost money or
disappointment.

"As a physician, I'm most concerned not that someone has painted the
nursery the wrong color, but what are the medical consequences of
someone taking this test?" she said. An incorrect result could lead to
"unnecessary amniocentesis and other procedures that carry a risk of
miscarriage."

Melissa Alberti-Araujo subjected her newborn daughter, Nadine, to a
battery of tests after she called Acu-Gen to complain that her test
results had been wrong. She said Wang came on the line and insisted
Nadine had male DNA.

"We panicked," said Alberti-Araujo, who is studying to be a family
therapist in Three Rivers, Calif., and joined the class-action suit
against the company.

"We did an ultrasound to make sure she didn't have testicles stuck up
in there or anything. She was fine, but it was real emotional for us."

The feelings can linger.

Plaintiff Anissa Iverson, who works as an office manager at Disney
Studios in Burbank, mourned when she discovered that the baby she
expected to be a girl was a boy.

She had already washed and folded more than $500 worth of clothes for
the daughter, to be named Sydney. When she and her husband realized
they would be having a son, they changed the baby's name to Zachary.

Iverson later became pregnant again, this time with a girl. The
clothes bought for Sydney came out of storage, but the name could not
be resurrected.

"I felt like Sydney had died," she said. "It was a tainted name."

Instead, she named her daughter Courtney.

karen.kaplan at latimes.com