Consumer Genetics Show 2009 in Boston

by Dr. Hsien-Hsien Lei
Posted November 19, 2008 in Business of DNA, DNA Testing

Here’s where most of my fellow DNA Network members would surely like to be next summer – the First Annual Consumer Genetics Show at the Hynes Convention Center from June 9-11, 2009.

Speakers include:

• George Church, PhD, Professor of Genetics at Harvard Medical School and founder of the Personal Genome Project (as seen on PBS)
• Dietrich Stephan, PhD, co-founder of Navigenics
• Jorge Conde, CEO, Knome
• Ryan Phelan, CEO, DNA Direct
• David Ewing Duncan, Bestselling author and award-winning journalist

Show objectives include:

• Regulatory issues
• Intellectual property considerations
• Interaction between biotechnology, molecular diagnostic, and pharmaceutical markets
• Role of physicians in helping patients interpret results from direct-to-consumer (DTC) genetic tests
• Effect of DTC market on molecular diagnostic laboratories
• Patient and consumer security (Blaine at The Genetic Genealogist recently wrote about security at Navigenics and 23andMe)
• Public relations and business strategies to optimize public perceptions of DTC genetic testing (given persistent negative opinions issued by various experts and professional societies)

Are you planning to attend?

Photo credit: Pieter Musterd

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Family History of Disease Scares Parents More Than Genetic Test Results

by Dr. Hsien-Hsien Lei
Posted November 6, 2008 in DNA Testing, DNA and Disease

Should parents purchase direct-to-consumer genetic tests for their under-age children? Joanna Mountain, Senior Director of Research at 23andMe, chose to do so for her two sons and found it to be a positive experience overall (of course!). I have not done so for my two children and haven’t even done so for myself. Just call me chicken.

In a timely study published in the November issue of the Archives of Pediatrics & Adolescent Medicine, researchers at the University of Michigan CS Mott Children’s Hospital staged a hypothetical situation and randomized over 1,300 parents to receive hypothetical genetic risk assessments framed as family history or genetic test results. They found that parents were actually more worried if they had observable, tangible evidence of a family history of disease than if the results were purely based on genetic tests.

So it seems that nothing strikes fear into our hearts more than knowing that a family member is ill and that we may also have inherited an increased susceptibility to the illness. While genes may be floating around in our consciousness, they remain an abstract concept that most of us are not able to include in our daily risk analyses.

NB: Daniel MacArthur at Genetic Future has more on genome scans for the whole family although he considers it mainly from a business perspective than from one as a parents since he isn’t one yet.

via Los Angeles Times

Photo credit: Wellcome Images

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How Many Ways Can A Physician Be Sued (Over Genetic Tests)?

by Dr. Hsien-Hsien Lei
Posted November 4, 2008 in DNA Testing, DNA and the Law

…American Medical News counts the ways in Judging genetic risks: Physicians often caught between what patients want and what science offers.

1. Wrongful Birth/Life – Patients may sue physicians for not providing enough genetic testing or giving false negative test results.
2. Pharmacogenomics – Patients may sue doctors for not ordering genetic testing before prescribing certain medications, such as Coumadin (warfarin)
3. Negligent Medical Advice – Patients may sue a doctor who does not warn them of shared familial genetic risk of disease. Judges in a 2004 Minnesota Supreme Court case ruled that physicians had a duty to both patients and their biological family members to inform of them of genetic testing and diagnosis.
4. Personal Beliefs Over Patient Rights – Physicians may not be able to claim “right-of-conscience” when it comes to denying patients genetic testing on the grounds of religious or moral beliefs.

Patients should also keep in mind that their physician may not be well-versed in genetics and is most probably not up-to-speed on the latest available genetic tests. Considering the complexity of genetics, can we expect busy doctors to keep abreast of the field? Perhaps one solution is to increase the number of genetic counselors available and making their services affordable and commonplace. On second thought, isn’t that what some direct-to-consumer genetic testing companies are aiming to do?

*Yes, I am affiliated with DNA Direct that offers pre- and post-test education and expert consultation on genetic tests.

Photo credit: Joe Gratz

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Bioethicist Arthur Caplan Says Corporate Greed Drives Genetic Testing Marketplace

by Dr. Hsien-Hsien Lei
Posted October 15, 2008 in DNA Testing, DNA and Disease

Fresh on the heels of the launch of the deCODE BreastCancer genetic test last week, Dr. Arthur Caplan, renowned director of the University of Pennsylvania Center for Bioethics, said in an article for MSNBC.com that breast cancer gene tests are not worth the price.

If you are worried about your risk of getting the disease, or are thinking about getting a genetic test done for any other reason, talk with your doctor or a genetic counselor who can determine whether your family history justifies the expense. You may be surprised to find that you can make changes in lifestyle and monitoring your own health that can reduce your risk without testing.

Dr. Caplan even goes so far as to accuse genetic testing companies of corporate greed which, given the current economic environment in the U.S., is bound to send shivers down their spine.

With respect to deCODE’s breast cancer genetic test, it examines seven single nucleotide polymorphisms* (SNPs) that are purportedly involved in 60 percent of all breast cancers. Results from the test are given as personal lifetime relatively risk compared to the general population (specifically people of European descent). Other risk factors such as family history, pregnancy history, etc. are not taken into consideration when calculating a deCODE BreastCancer genetic test taker’s risk.

deCODE’s Chief Scientific Officer, Dr. Jeff Gulcher, responded to Dr. Caplan on its blog, deCODE You (a member of the DNA Network) and drew analogies between the BreastCancer genetic test and LDL-cholesterol tests. Anyone who is identified to be at higher risk of breast cancer (or in the analogy, high cholesterol leading to cardiovascular disease) would benefit from greater vigilance, more intensive screening, and possibly, preventive therapy.

Another DNA Network member, Dr. Steve Murphy at Gene Sherpas calls the deCODE BreastCancer test “hype.” Cancer Research UK also believes that “it’s too early for a test of this kind to be released to the general public.” Dr. Len Lichtenfeld of the American Cancer Society does not believe the test will “advance our cause in the fight to reduce deaths from cancer in a meaningful, evidence-based and scientifically accurate way.”

Speaking of cost, though,it seems that 23andMe customers get the better deal because all of the six of the seven SNPs (rs4415084 was on the v1 chip but not on the v2 chip) examined in the deCODE BreastCancer genetic test are included on version 2 of the 23andMe gene chip (I checked using SNPedia) not to mention the other nearly 600,000 SNPs included in the 23andMe report. A 23andMe DNA test costs $399 while a deCODE BreastCancer genetic test costs $1,625.

deCODE’s test offers other bits and fancy algorithms for calculating risk to justify the price. But customers should be aware that there is more than one way to get the genetic data they desire. And that data’s worth can be hard to price.

*See the list of SNPs in this sample report (pdf).

via Al’s Morning Meeting at Poynter Online

NB: I am a consultant to DNA Direct, a genetic testing company.

Photo Credit: abbyladybug

*Thanks to Mike Cariaso of SNPedia for clarifying what’s on the 23andMe chips.

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Chromosome 20 Involved in Male Pattern Baldness

by Dr. Hsien-Hsien Lei
Posted October 13, 2008 in DNA Testing, DNA and Disease

Consumers of genetic testing can now get more information on male pattern baldness from chromosome 20. A genetic test specific for hair loss is already on the market – HairDX. It examines CAG repeats in the androgen receptor gene (AR) on the X chromosome. According to Technology Review, in one study of 2,000 balding men and women, 1 in 7 Caucasian men had markers on both chromosome 20 and the X chromosome that increased their risk of baldness.

Lest you think baldness is a purely cosmetic concern, there is a link between male pattern baldness and increased risk of cardiovascular disease and insulin resistance. In 2000, the Physicians’ Health Study found that “vertex pattern baldness is a marker for increased risk of coronary heart disease events, especially among men with hypertension or high cholesterol levels.”

Interestingly, the HairDX website makes no mention of the link between hair loss and heart disease. Perhaps because they don’t want to run into trouble for making any innuendos about the medical utility of their DNA test. However, with this bit of information in mind, I’m less likely to make jokes at their expense.

Photo credit: Helge Carlsen

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Smart Genetics Shuts Its Doors

by Dr. Hsien-Hsien Lei
Posted October 6, 2008 in Business of DNA, DNA Testing

Direct-to-consumer genetic testing company, Smart Genetics, has gone out of business. The two-year-old company sold HIV Mirror and Alzheimer’s Mirror, DNA tests for HIV progression to AIDS and Alzheimer’s risk respectively.

I first wrote about HIVmirror in June 2007. Aimed at HIV+ individuals, the test analyzes the CCR5 Delta32 and CCR2-64I genetic variants previously shown to slow the progression of HIV infection to AIDS. Alzheimer’s Mirror examined the APOE gene.

CEO and co-founder Julian Awad first received funding for the company while at the Wharton School of Business. He was later profiled by CBS News for  Alzheimer’s Mirror and found that his own personal lifetime risk of Alzheimer’s disease is about 9 to 10 percent compared to 15% for the general population.

Ironically, he was also mentioned in a Wharton article from 2007 – Can Anyone Make Sense — or Money — Out of Personal DNA Testing?

Apparently not.

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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

Of 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.

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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

For 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

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Is genetic testing useful?

by Dr. Hsien-Hsien Lei
Posted August 31, 2008 in DNA Around the World, DNA Testing, DNA and the Law

In The Malaysia Star today, Dr. Teo Soo Hwang explores genetic testing as it applies to the BRCA gene for breast and ovarian cancer – Can genetic testing be useful? The paper is printing “a series of four articles by the Cancer Research Initiatives Foundation (CARIF) that explores how genes are linked to diseases, the relationship between genes and cancer, and what is genetic testing and counselling.”

By the way, Malaysia’s government is currently considering a DNA Identification Bill that would require people charged with a crime to submit DNA samples. While this type of law is nothing new in other countries, such as the UK, the introduction of this bill in Malaysia at this time is part of a political brouhaha involving opposition figure Anwar Ibrahim who has been accused of sexual misconduct. His supporters fear that if he were forced to give a DNA sample, it would be tampered with and falsely incriminating results would be submitted to the courts.

Om Prakash says at malaysiakini.com:

The onus must be on those who want to freely give their DNA sample to prove their innocence. Let us not be threatened with another draconian law like the ISA for political and law- enforcement expediency.

We are not ready to just trust anybody yet.

Conclusion: Genetic testing is useful to some and not so useful for others.

Other DNA articles of interest in The Malaysia Star:

• Your genes, your health (1st in the series)
• Let’s do a CSI

Photo credit: Eye on Malaysia, Lukman Kusuma

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Using Disposable Income for Genetic Tests

by Dr. Hsien-Hsien Lei
Posted May 6, 2008 in DNA Testing

The New York Times reported this past weekend that more people are having problems obtaining affordable health insurance. On top of the budget constraints people face during a recession, even those who are covered by employer health insurance have to deal with “some combination of higher premiums, less extensive coverage, and bigger out-of-pocket deductibles and co-payments.” This means that many skip routine check-ups and avoid seeing the doctor unless absolutely necessary.

The majority of U.S. tax payers this year will be receiving several hundreds of dollars in tax rebates. Here’s what people plan to do with the money according to a survey by the NPD Group :

• 42% would pay bills
• 21% would put the money into savings
• 12% would spend the money on discretionary items

How does this affect the potential market for genetic services? If people can’t even afford to pay for necessary maintenance medication, eye glasses, or diabetes test strips, how do personal genomics companies expect to expand their market for elective health services? And yet, direct-to-consumer genetic testing is more widely available in the U.S. than in any other country.

Where socialized medicine prevails in countries such as the UK, Singapore, and Iceland, it seems that people would have more disposable income to spend on optional healthcare. It would be interesting to see the uptake of personal genomic services in countries other than the U.S. although culture and legalities would be important factors as well. For example, are Icelanders more interested in and willing to spend money on personal genomics given that one of the more successful personal genomics companies, deCODE genetics , is based in Iceland and has published studies closely examining its citizens?

Eventually, personalized medicine incorporating genetic information will become a fact of life. At that point, genetic testing will be routinely covered by insurance as with any other laboratory test or become a hidden cost when pricing pharmaceuticals, i.e., a pharmaceutical company would cover the cost of a genetic test in order to determine type and dosage of a particular medicine. For now, however, it seems that it would be hard for most people to justify spending any of their disposable income on genetic tests or scans unless family history or other known medical conditions alert them to the need for extra information and vigilance.

How are you using your disposable income?

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