2008 September

Eye on DNA Interview: Terry Carmichael, VP of Marketing & Sales at Consumer Genetics

by Dr. Hsien-Hsien Lei
Posted September 29, 2008 in DNA Testing, Personalities with DNA

About Consumer GeneticsOf all the direct-to-consumer genetic tests currently available to the public, early gender DNA tests are among the most controversial. The test allows pregnant women to submit finger prick blood samples which the lab screens for the presence of Y-chromosomal DNA from the fetus; Y-chromosomal DNA positive indicates a boy, negative indicates a girl.

Karen Kaplan of the LA Times looked into the accuracy of gender DNA test kits in February of this year. And a lively discussion among Eye on DNA readers follows my post: Is the Pink or Blue early baby gender DNA test accurate? One of the commenters is Terry Carmichael, VP of Marketing & Sales at Consumer Genetics, manufacturer of The Pink or Blue Early DNA Gender Test.

Terry is the founder of Gene Tree DNA Testing Center which was sold to Sorenson Genomics in 2001. He also helped launch at-home DNA paternity DNA tests in major U.S. drugstores in 2007 (see previous Eye on DNA post). I was impressed with Terry’s openness and invited him for an email interview.

~~~~~

Hsien: What is your company’s motivation for providing an early gender DNA test direct to consumers?

Terry: Trying to predict the sex of a baby has been a centuries old game within families. Families want to know the sex of a baby for many reasons. Most want to make an announcement at a family gathering, or surprise their husband with the anticipated gender, or preparing siblings for a new baby boy or girl. Others want to know so that they can prepare siblings that will have to share rooms, or to begin to decorate a room for the baby based on gender. The main motivation for Consumer Genetics is the gratification we get when helping families plan for the future by offering them the information they are seeking to know.

Hsien: Can you tell us more about the quality assurance protocol for the Pink or Blue DNA Gender Test?

Terry: The Pink or Blue test is based on several large scale studies that have scientifically proven the ability to determine gender by detecting Y-chromosomal DNA of fetal origin in a large sample of a mother’s blood (10 ml). The accuracy of this method in a clinical setting has been shown to be between 97.8 to 100% within a population of 1,837 pregnant women. The Pink or Blue test uses the same molecular technique as in the studies (Polymerase Chain Reaction) along with a proprietary method of purifying and amplifying the baby’s Y chromosomal DNA within a much smaller sample of the mother’s blood (usually 60-120 microliters). The company looks for data from the DNA test that shows the baby is a boy. If this data does not show this, then this suggests that the baby is a girl. There are times when the data is not clearly one or the other – imagine a few data points that are on either side of a line. In this case, we report the test as inconclusive. Due to this complex “signal-to-noise” issue, we regularly run at least 2 tests for each sample to increase the probability of a conclusive result. If all tests are “inconclusive,” we then ask the customer for a new sample. Therefore, just like ultrasound, we have a portion of samples that we cannot determine gender from, and we have the customer send a new sample for re-testing. This second sample will nearly always give us a conclusive result.

Our laboratory has a documented quality assurance system in place to ensure the proper functioning of all equipment and reagents. All new reagents are thoroughly tested before entering the production line. We also purify a control sample along side a batch of real samples to ensure that there is no reagent failure or laboratory-caused contamination. About 33% of all the sample wells in a PCR reaction are controls, ensuring that all reagents are working properly. For each portion of a sample that is tested, the Pink or Blue DNA Gender Test laboratory procedure is run in triplicate. So, for a standard sample, where 2 portions are tested, there are actually 6 data points showing boy or girl, 10 data points with unique controls for that specific sample, and dozens of controls indicating that all reagents were working properly.

The lab documents all this activity and is working towards ISO and CLIA accreditation. Although accreditations are not currently needed for gender testing due to it is not used for medical or diagnostic purposes, the company recognizes that accreditation will add more creditability, and as more regulatory guidelines are expected in the future, it makes good business sense to have a strong, accredited quality system in place.

Hsien: What factors can contribute to inaccurate results? How can consumers ensure the most accurate results possible?

Terry: It is very important that our instructions are carefully followed. The DNA preservation cards must be completely filled with the appropriate amount of blood in all three specimen blotting areas of the card. The quantity of a baby’s DNA in the mother’s blood is very minute. Therefore, the more blood, the more fetal DNA; and the higher the chances are for a conclusive result. It is also important to collect the sample no earlier than 7 weeks, post-conception. Specimens collected earlier than this eligibility date may not have enough fetal DNA circulating in the blood for our DNA test to detect. Contamination of the sample with male DNA from outside the womb can also occur. We have a proprietary method that detects this kind of external contamination, but once contamination is confirmed we cannot provide accurate results and a new specimen is needs to be sent in. The best way to ensure the most accurate results is to follow our instructions, watch our instructional video, keep away from males while providing the sample, collect the proper amount of blood, and make sure that the area used for specimen collection is clean.

Hsien: Why do you think people are so eager to know the sex of their baby before delivery?

Terry: That is a complicated question and one that is highly specific to each individual. We do not survey our clients’ intentions, but many volunteer their reasons for DNA testing. Most commonly these are to make an announcement at a family gathering, surprise their husband with the anticipated gender, preparing siblings for a new baby boy or girl, and many women are simply excited and anxious about their pregnancy and want to know their baby’s gender as early as possible. They just can’t wait to find out.

Hsien: How would you respond to critics of early gender detection who say that the various methods, including DNA tests and ultrasound, are being used for sex selection?  

Terry: There are several companies providing products to select gender, and gender selection is legal in the United States. Check out places like Amazon.com, where gender selection kits are for sale. 

However, this is not what we are all about, here. We are about helping people who are excited and want to make an announcement at a family gathering, or surprise their husband with the anticipated gender, or preparing siblings for a new baby boy or girl, or just to help a mother-to-be who is thrilled about her pregnancy and wants to know her baby’s gender as soon as she can.

Our DNA test are not be used for gender selection and our consent for states this. People using our gender testing service have consented not to use it for gender selection purposes. We are clear about this, and we will continue to refuse to provide our services for those means. To further assure this position we regularly turn people away trying to purchase from China and India, where gender selection procedures are of great demand.

(7 comments)


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My Son, The Genetic Epidemiologist

by Dr. Hsien-Hsien Lei
Posted September 16, 2008 in DNA Fun, DNA and Disease

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My six-year-old’s reading and mark-up (in purple) of a paper in Nature Genetics authored by my friend, Dr. Linda Kao.

Press Release – New gene variant identified for nondiabetic end stage renal disease in African-Americans

Scientists at Johns Hopkins schools of Public Health and Medicine have, for the first time, identified variants in the gene MYH9 that are associated with increased risk for non-diabetic end stage renal disease (ESRD,) which is the near-loss of kidney function leading to either dialysis of transplant. MYH9, located on the 22 chromosome, is the first gene identified for common forms of kidney disease. The study was published online September 14 in the journal Nature Genetics and will be published in the October print edition. In a separate study published in the same issue, researchers at the National Institutes of Health reported similar findings.

(5 comments)


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DNA for Terrorism

by Dr. Hsien-Hsien Lei
Posted September 15, 2008 in DNA and the Law, Genetic Engineering

 image for id L0029724New Scientist reports that the Industry Association of Synthetic Biology (IASB) will begin issuing a seal of approval for members to post on their websites which will show that the companies screen their orders for potentially dangerous DNA sequences. The US National Science Advisory Board had been concerned about the potential for terrorists to purchase synthetic DNA to create deadly viruses.

In order to reduce the the chances of bioterrorism using commercially available genetic engineering, IASB committed to:

  1. An anonymized survey of industrially produced and delivered genes
  2. A sequence database accessible for all companies involved in gene synthesis that will help to identify orders requiring closer scrutiny

In related news, New York City Mayor Michael Bloomberg said last week the city ranks only 21st out of 54 eligible states and cities in the amount of funding for bioterrorism prevention despite the city being the number one target for terrorists. The mayor said funding is allocated irrespective of the risk for terrorist attack.

Because of the anthrax episodes in 2001, New York is one of only a handful of places in the nation that’s ever experienced a bio-terror attack. Yet in Fiscal Year 2008, we received $2.72 per capita, putting us an incredible 21st out of 54 eligible states and cities.

For more about bioterrorism, see previous Eye on DNA posts – Beware of Genetic Bioviolence and Could Altering DNA in Bacteria Post a Terrorist Threat?

Photo credit: Wellcome Library, 1927 Anthrax poster

(1 comment)


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Stephen Colbert’s DNA Headed for the International Space Station

by Dr. Hsien-Hsien Lei
Posted September 10, 2008 in DNA Podcasts and Videos, Personalities with DNA

Along with the DNA of other bright minds, musicians, and athletes, clever funnyman Stephen Colbert’s digitized DNA will also be included in Operation Immortality’s digital time capsule that’s being delivered to the International Space Station next month. See video above for his DNA sign-off from February 2006.

via 60-Second Science

(2 comments)


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23andMe DNA Tests for $399, Down From $999

by Dr. Hsien-Hsien Lei
Posted September 9, 2008 in Business of DNA, DNA Testing

23andMeFor the same price as my Amazon Kindle E-Reader ($399 when I bought it, now $359), you can now get a whole genome scan from 23andMe. Originally $999, savings on DNA analysis chips were passed on to consumers.

From the press release:

23andMe is able to offer the reduced price thanks to technological advancements made by the company that provides its DNA scanning technology, Illumina, Inc. In addition, 23andMe also unveiled today the expansion of its custom genotyping content along with new social networking and community features, laying the groundwork for enhanced customer interaction.

When Amazon cut the price of the Kindle by $40, people who’d purchased it within the previous 30 days were able to get the difference refunded. Will 23andMe customers receive a similar refund?

NB: 23andMe also announced a partnership with Ancestry.com today.

via The Associated Press

(6 comments)


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Digitized DNA Blasting Off Into Space

by Dr. Hsien-Hsien Lei
Posted September 5, 2008 in DNA Fun, Personalities with DNA

Fausto wants to go to outer space! by feastoffools.Three Silicon Valley celebrities are set to send their digitized DNA into space via NCsoft’s Operation Immortality project. Game designer Richard Garriott will deliver the DNA to the International Space Station on October 12. A digital time capsule is being created that includes “messages from people around the world along with the digitized DNA samples from some of Earth’s brightest minds, musicians, and athletes.”

The Silicon Valley celebrities participating are:

  • Kevin Rose of Digg
  • Robert Scoble of Scobleizer
  • Tim Draper of Draper Fisher Jurvetson

Draper’s desire for his DNA:

My hope is that aliens get a hold of my DNA so my clones can spread entrepreneurship to galaxies throughout the universe.

Some might wish for peace throughout the universe but I guess entrepreneurship ain’t too bad.

Photo credit: feastoffools

(>> Start a discussion!)


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Teaching Genetics Without the Mumbo Jumbo

by Dr. Hsien-Hsien Lei
Posted September 1, 2008 in DNA in General

A study in the Journal of Research in Science Teaching suggests that primary school students should be introduced to scientific concepts in “everyday English” first before being forced to memorize vocabulary.

The results reveal that although learning the language of science remains a primary hurdle, students taught using our content-first approach demonstrated an improved conceptual and linguistic understanding of science.

http://ecx.images-amazon.com/images/I/61NQKth55OL._SS500_.jpgHow would this apply to teaching genetics? My son’s current favorite series of books is Geronimo Stilton and in Geronimo and the Gold Medal Mystery, a professor conducts “extremely secret experiments in genetics.” Genetics was explained as:

…the science that deals with the hereditary characteristics of species in the plant and animal world.

Not quite everyday English. How might this be rephrased?

Genetics is the science that looks at how parents pass along certain traits to their children.

Is that too simplistic? How would you explain genetics in one sentence?

via Stanford News Service

(16 comments)


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