DNA Testing

10 Reasons NOT To Take a DNA Test

by Dr. Hsien-Hsien Lei
Posted February 4, 2008 in DNA Testing

stop lightSome thoughts on why a person might NOT want to take a DNA test.

  1. You have no idea what DNA is and where it is found in your body. (Although you can easily bring yourself up to speed by reading 100 Facts About DNA.)
  2. You are on a tight budget and your health insurance won’t cover the cost of DNA testing. (On the other hand, you could raise money publicly like Andrew Meyer at Buzzyeah.)
  3. You believe that ignorance is bliss.
  4. You think genetic test results are no better than what you’d get going to your local psychic.
  5. You’re not convinced that genetic discrimination can be totally banned.
  6. You are not at high risk of an inherited disease because you live a healthy lifestyle and do not have a positive family medical history. (Of course, there are other more fun reasons to get genetic testing, such as genetic genealogy.)
  7. You are not prepared to share your DNA test results with family members yet will feel guilty if your results have implications for their health or family relationships, e.g., BRCA breast cancer and ovarian cancer gene or non-paternity event.
  8. You are not ready to accept any results from a genetic test that do not confirm your pre-existing beliefs. For example, a person with a family history of Huntington’s disease may be shocked to find that they do not carry the HD gene mutation.
  9. You are not prepared to change your lifestyle even if you are found to have a mutation that increases your risk of a specific disease that involves both genes and environment, e.g., coronary heart disease and obesity.
  10. You are a fatalistic person and will let genetic information control your life.

What other reasons can you think of to convince someone NOT to take a DNA test?



Prenatal Primer: Interactive Guide to Prenatal DNA Testing Options

by Dr. Hsien-Hsien Lei
Posted January 30, 2008 in DNA Testing

pregnant secretPrenatal genetic testing has become so routine that almost all the women I know have gone through it even if they were pregnant before age 35. All of us, including me, experienced some degree of confusion and spent a significant amount of time researching various tests and potential outcomes. To help pregnant women and their families understand their options, DNA Direct* and Lenetix Medical Screening Laboratories have created the Prenatal Primer, which includes:

  • An online questionnaire
  • Information on prenatal risk assessment tests and diagnostics
  • Flow-charts and visual representations of testing options

“It’s very important for patients to fully understand and weigh the screening and diagnostic options,” said Dr. Thomas Musci of San Francisco Perinatal Group. “A web-enabled tool that provides comprehensive education about prenatal screening options will help ensure that patients truly obtain informed consent.” Musci is working with DNA Direct to develop the beta version of the tool to be piloted at his practice. (Press Release )

On a related note, Sequenom is enrolling patients in a study to clinically assess their noninvasive cell free fetal nucleic acid SEQureDx Technology for detecting fetal aneuploidy, including Down syndrome. SEQureDx requires only a blood sample from the mother without the need for invasive amniocentesis or chorionic villus sampling.

And, the AP also has a story about increased prenatal testing leading to higher termination rates – Down syndrome groups anxious about increased prenatal testing.

*I work for DNA Direct.

(1 comment)


American Journal of Medical Genetics Special Issue on Children and Genetics

by Dr. Hsien-Hsien Lei
Posted January 28, 2008 in DNA Testing

IMG 6904The February 15, 2008 issue of the American Journal of Medical Genetics is devoted to ethics and policy regarding children and genetics. Some of the articles touch on topics I’ve covered here at Eye on DNA, including:

  • Waiving informed consent in newborn screening research: Balancing social value and respect (Eye on DNA post 1, post 2)

    Waiving the informed consent requirement facilitates the development of flexible strategies for informing and educating parents about NBS research that reflect the logistics of population-based NBS screening. A strict interpretation of the regulatory requirement of informed consent may create significant logistical and financial barriers to adequate evaluation of NBS tests.

  • Ethical implications of including children in a large biobank for genetic-epidemiologic research: A qualitative study of public opinion (One of the authors is a former Johns Hopkins classmate of mine – Dr. David Kaufman. Hi, Dave!)

    Many of the concerns expressed by participants [of focus groups] mirrored those addressed in pediatric research guidelines. These concerns included minimizing children’s fear, pain, and burdens; whether to include young children; and how to obtain children’s assent. …To successfully include children, proposed cohort study would need to address children’s changing capabilities and rights as they grow and reach the age of consent.

  • You’re one of us now: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP) (See Eye on DNA interview of Kathy Flake whose mother had HD.)

    Harms described included knowledge of future illness, witnessing distress in parents, negative effects on family relationships and friendships, effects upon employment and school, experiencing regret, feeling guilty and having to confront difficult issues. Benefits included knowledge of gene-negative status, relief from uncertainty, witnessing relief in parents, feeling able to plan for the future, positive effects on family relationships and friendships, feeling empowered and experiencing a sense of clarity about what is important in life.

  • Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring (Eye on DNA, press release)

    Combining the responses of parents and offspring, 40 percent supported genetic testing of minors with half in favor only in certain circumstances. A majority of sons and daughters — potential consumers of genetic testing, supported testing minors.

NB: The ultrasound above is of my own to-be newborn due June 2008.



Genetic Genealogist Ann Turner’s Opinion on deCODEme, 23andMe, and Whole Genome Testing

by Dr. Hsien-Hsien Lei
Posted January 25, 2008 in DNA Testing

trace your roots with dnaWhile David Hamilton of VentureBeat Life Sciences has been scrutinizing deCODEme’s sample reports for “demo user,” Dr. Ann Turner has been on the inside. Not only is she a customer of both deCODEme and 23andMe, Dr. Turner is the co-author (with Megan Smolenyak) of Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree. Trained as physician at Stanford University, she now develops software for neuropsychological testing as well as those for use in genetic genealogy. She is also the founder of the very active GENEALOGY-DNA mailing list at RootsWeb and is on the editorial board of the Journal of Genetic Genealogy.

Today at Eye on DNA, Dr. Turner shares her thoughts on deCODEme, 23andMe, and whole genome testing.

David Hamilton at VentureBeat finds the deCODEme demo to be “underwhelming.” Consumer access to whole genome testing is totally unprecedented, and we have no foundation for knowing what to expect, but I’m considerably more intrigued by the potential myself.

First of all, I expect deCODEme and 23andMe felt under intense competitive pressure to get a product out the door, since rumors had been circulating widely for months. I don’t regard either website as being mature, but they are each expandable as science learns more from whole genome association studies. The raw data will be constant, and I find myself scanning news releases about research studies to see if they mention any rs (Reference SNP) numbers. For instance, a recent article by Gina Kolata in the New York Times mentioned a commercial prostate cancer test to be marketed for $300, which will include five SNPs that seem to elevate the risk several-fold if many of them are present. The deCODEme and 23andMe download of raw data includes four of those SNPs. I expect both websites will be incorporating findings like these into their interpretive reports, too.

I agree that the website does not make for easy pickings — it takes some thought to grasp the principles behind the reports and graphics. The whole notion of relative risk is not something many people have even thought about. But, as Kevin Kelly said in a WIRED article reviewing the Genographic Project and my book Trace Your Roots with DNA, “a basic level of genetic literacy will be essential… ” and learning about our own DNA is a great motivator. When David Hamilton complained that clicking on the Relationship Check for “nephew” revealed a “rat’s nest of possible family ties” that’s exactly what he could have expected. All those relationships share about 25% of their DNA on the average, as the chart in the WIRED article illustrates.

Since I’m interested in genetic genealogy, I am more attuned to the ancestry components of the deCODEme results. The admixture results are interesting to anyone who suspects they may have ancestors from different geographical areas. The detailed chromosome graphs also show the potential for tracing segments of DNA shared with even more distant relatives. For instace, it was recently found that a block carrying a colon cancer gene could be traced back to a couple who arrived in the US in the early 1600’s. This sort of thing might very well show up in the “Compare Me” feature.

Early adopters do take some risks — I’m sure that prices will drop and features will increase as time goes on. But I’m in the game, as I want to start on the learning curve right away.



Latest Launches at 23andMe

by Dr. Hsien-Hsien Lei
Posted January 22, 2008 in DNA Around the World, DNA Testing

Starting today, 23andMe services are now available in Canada and Europe. (press release) The Guardian attempts to inject a few words of warning to potential customers by quoting Dr. Helen Wallace of GeneWatch:

“Our main concern is that the human genome is set to become a massive marketing scam,” she said, adding that special diet foods and pills had been promoted on the back of tests. “Genetic tests like these are not regulated and the science is still poorly understood – so there is a real danger people could be misled about their health.”

My question is: What isn’t a “scam” nowadays? Do I really need 10 different shades of eyeshadow? Does my five-year-old really need the whole collection of Ben 10 toys (which will never be amassed in our lifetime)? Should we be eating low fat cookies or high protein bread?

You want to know the truth? Everyone’s out to “scam” us. You have to make your own informed decisions about what you’re going to buy into. For some, it could be a genetic test for balding. For others, it could be a $350,000 personal genome sequence. Take some responsibility and initiative and figure out what’s right for you! /rant over

spittle bug spittoon

By the way, 23andMe has also launched their blog, the spittoon. Pop by and say “hi”! And maybe convince them to join The DNA Network (now numbering 41).



Eye on DNA Headlines for 18 January 2008

by Dr. Hsien-Hsien Lei
Posted January 18, 2008 in DNA Testing, DNA and Disease, Eye on DNA Headlines

  • dna bridgeProactive Genomics has launched a $300 prostate cancer genetic test based on research published in the New England Journal of Medicine (January 2008). SNPs at five chromosomal regions were found to be associated with prostate cancer: 17q12 (rs4430796), 17q24.3 (rs1859962), and 8q24 regions 1 (rs16901979), 2 (rs6983267), and 3 (rs1447295). The company looks as if they have plans to expand into the genetics of common diseases as well as personal genomics. More from The New York Times.
  • Genetic Testing is now the official journal of Genetic Alliance. (press release)

    The journal covers all aspects of genetic testing, including molecular, biochemical, and varied sets of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling.

  • My first stop for information about autism is Autism Vox where today, Kristina Chew looks at geneticist Michael Wigler and his “unified genetic theory of autism.”
  • Look who I found at Big Think! There is a video of George Church, Harvard prof. of genetics answering the question: What is the state of global medicine today? as well as one where he’s musing on The Genomic Revolution. If you feel like responding, you can do so via writing, video, or audio slide show. (via TechCrunch)
  • Sperm produced by mice exposed to air pollution have been found to have more genetic mutations and DNA methylation. Not to worry – just use cloned sperm!
  • Just Science 2008 is now accepting participants.

    By signing up you stipulate that you will post at minimum 1 scientific post per day between February 4th and 8th of 2008. Additionally, you may not post any non-science entries for this period so that we may offer only science on our aggregated feed.

(>> Start a discussion!)


HairDX – Genetic Test for Male Pattern Baldiness

by Dr. Hsien-Hsien Lei
Posted January 16, 2008 in DNA Testing

Over the years, I’ve had many different hair styles and not a year goes by without me wondering if it would just be easier to shave it off. But I’m being facetious. Readers of Baldiness and its author, Laura Bzowy, certainly care about hair loss and its effect on all aspects of life. And so, apparently, do the folks at HairDX.

HairDX is a $149 genetic test for male pattern baldness also known as androgenic alopecia. It examines unspecified SNPs in genes on the X chromosome that code for the androgen receptor. A previous study in 2005 showed that the genetic variant which codes for excess androgen receptors lies on the X chromosome and is the major determinant of male pattern baldness. HairDX claims that the high risk genetic variants they study account for 95.1% to 98.1 of cases of early onset baldness before the age of 40.

Why take a genetic test for a condition that is not life threatening? HairDX CEO Andy Goren is trying to help you save money:

Each year, men in their twenties and thirties spend millions of dollars on pharmaceuticals, topical products, and other costly treatments trying to prevent baldness. Some of this is done by males who may not go bald in the first place.

So here’s the breakdown:

  • Positive HairDX – Sorry, you lose the genetic lottery.
  • Negative HairDX – Sorry, you could still lose your hair because of other reasons, genetic or otherwise.

Does anybody know if 23andMe or deCODEme test for baldness-related SNPs?* I’m not sure which is a more cost-effective way to go.

In any case, I think this guy’s a lost cause.

ricardo vidal

It’s Rick Vidal from My Biotech Life! Still looking good minus a few strands of hair. :D

*Genetic genealogist Ann Turner has lots more information in her comment.

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The New England Journal of Medicine Gives Direct-to-Consumer Genome Scans Thumbs Down

by Dr. Hsien-Hsien Lei
Posted January 10, 2008 in DNA Podcasts and Videos, DNA Testing

baby thumbs downThe New England Journal of Medicine (NEJM) is telling doctors what they should advise their patients when it comes to genome scans. And the advice is basically – Don’t Do It!

Here are the concerns about genome scans as raised by the NEJM article (much of them overlap with those raised by the American Society of Human Genetics):

  1. Analytic Validity – Quality control and oversight are unclear. Genetic tests may be highly accurate and reliable but even low error rates may mean large numbers of mistaken genotypes because each genome scan involves half a million to a million SNPs.
  2. Clinical Validity – Sensitivity, specificity, and positive and negative predictive value for each test are unclear. Complex diseases, such as diabetes and heart disease, are caused by more than one gene variant as well as gene and environment interactions.
  3. Clinical Utility – The desired effect on a patient’s clinical care is unclear especially when most health interventions would apply even without genetic information, e.g. smoking cessation and weight loss. Also, co-author Dr. Muin Khoury says in the podcast below that family history is still more important clinically than results from genome scans.

The authors conclude that genome scans have limited utility.

So what advice should a physician offer patients? For the patient who appears with a genome map and printouts of risk estimates in hand, a general statement about the poor sensitivity and positive predictive value of such results is appropriate, but a detailed consumer report may be beyond most physicians’ skill sets. For the patient asking whether these services provide information that is useful for disease avoidance, the prudent answer is “Not now — ask again in a few years.” More information is needed on the clinical utility of this information in the light of existing disease-specific opportunities for prevention or early detection and the potential value that genomic profiles can add to that of simpler tools, such as the family health history. Finally, given the risk of commercial exploitation, if patients are determined to proceed, perhaps because they are simply curious, are genetic hobbyists, or are “early adopters” of new technology, it would make sense to encourage them to enroll in formal scientific studies. [emphasis added]

The idea of enrolling in formal scientific studies may be more prudent or altruistic but the reality is that when a customer pays for a genome scan, they have the right to keep their data private for their own use. Also, I doubt that scientific studies will come with the bells and whistles promised by the next-gen personal genome companies, including family tree building, social networking, and genome comparisons. For those interested in contributing to science and having their genomes scanned and/or sequenced, I would recommend checking out the the Personal Genome Project.

Co-author Dr. David Hunter gives more reasons for “why not to buy a scan of your genome” in US News & World Report. Below is the NEJM podcast interview of Dr. Muin Khoury.

powered by ODEO

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DNAWitness Bio-Geographical Ancestry DNA Test for Fighting Crime

by Dr. Hsien-Hsien Lei
Posted January 9, 2008 in DNA Testing, DNA and the Law

mug shotWhat is fair in love and war? When it comes to crime, does anything go as long as the perpetrator is caught? DNAWitness, a DNA test for race based on technology from DNAPrint Genomics, which also sells AncestryByDNA*, is considered by some law enforcement officials to be unfair and akin to racial profiling.

Unlike AncestryByDNA, which is used by genetic genealogists looking to learn more about the percent distribution of their racial ancestry, DNAWitness is used by law enforcement to narrow the pool of suspects or victims of crime. DNAWitness can determine which of four main continental groups an individual may belong to: European, East Asian, Native American, and Sub-Sahara African. And according to Wired, DNAWitness has been used in approximately 200 criminal investigations. While it has been useful, its reach has been limited because of the cost ($1,000) and controversy surrounding race and crime.

Troy Duster, former president of the American Sociological Association:

Once we start talking about predicting racial background from genetics, it’s not much of a leap to talking about how people perform based on their DNA — why they committed that rape or stole that car or scored higher on that IQ test.

From the comments in response to the Wired article, it’s clear that race (as always) is a hot button subject especially as it relates to DNA.

amckenzie4 said,

Excuse me, but how the heck is this “racial profiling”? This is a certain statement that the person who left DNA at a crime scene was of a particular ethnic background. That’s looking at facts. Racial profiling is making an unfounded, unsupported assumption about how someone will act (or has acted) based on race. Big difference there.

On the other hand, maybe this would be a good argument to get rid of security cameras. “Well, they’ve caught a black guy in the process of committing a crime. Clearly this is a racial issue, and we should stop using them.”

And sueno said,

Of course this technology is great to catch killers but will its long term effects be worth the ethical problems it raises and the abuse of raw data. The problem with this technology is there will be people who think they aren’t racist who will see the data of crime statistics and if they show one race being disproportionately criminal they will assume genetics/race is the reason while ignoring environmental factors and income levels, etc. Another problem is the government collecting DNA samples. It starts with criminals and then will branch out into all children in public school and then if you want to get a drivers license. If you don’t see the slippery slope there I suggest you read or watch some sci-fi (Brave New World).

Would you support the use of DNA testing to identify the race of a crime suspect?

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*NB: The company I work for, DNA Direct, is a partner of DNAPrint.



“One Package Fits All” DNA Testing

by Dr. Hsien-Hsien Lei
Posted January 4, 2008 in DNA Testing, Polls About DNA

peekabooMixing genealogy/ancestry genetic testing with medical genetic testing has always seemed tricky to me. My feeling is that most people who are interested in learning more about their family tree tend to be wary of using their DNA to understand their medical history. The target market for the two sides of consumer genetic testing may overlap, but not completely. So, difficulty arises when unexpected results surface from what were supposed to be purely genealogy-based DNA tests.

Last summer, the DYS464 Y-DNA marker was found to be associated with spermatogenic failure and consequently, male infertility. The frequency of the specific AZFc deletion in the DYS464 marker could be as rare as 1 in every 8000 markers and as common as 1 in 1000. According to The Genetic Genealogist, at least six genealogy DNA testing companies offer testing for the DYS464 marker. Customers who have this specific deletion may be shocked to find that they are not the biological father of their children and those who have not become fathers yet, may find that they will never have biological children of their own. How many genetic testing companies disclose the possibility of this unexpected finding from genealogy DNA testing? How many customers even have a clue that they might be in for more than just a link to some distant relative by participating in genealogy DNA testing?

Customers of next-gen personal genomics companies should be aware that they are not only signing up for genealogy DNA testing, but also genetic testing that will give them information on disease risk and propensity for certain physical and physiological characteristics. These next-gen genetic tests are being offered as one package that cannot be bought in parts although deCODEme allows customers to disable disease risk analysis for their account. (Disabling the disease risk analysis doesn’t mean you get a discount on their $985 service, however.)

This week, US News & World Report highlights GeneTree, 23andMe, deCODEme, AfricanDNA, and the Personal Genome Project. The article makes no distinction between genetic testing for genealogy purposes vs medical purposes and misleads the reader into thinking that the focus is on genetic genealogy with the title – A High-Tech Family Tree: New services use DNA to connect relatives and track down ancestors. But it’s hard to blame the reporter for getting confused when companies like 23andMe and deCODEme offer both genealogy DNA testing and what is essentially medical genetic testing (calculating risk of diseases and correlations between genetic markers and disease/physical and physiological characteristics) and yet maintain the stance that the data and analyses customers receive are not to be used for making health care decisions.

The information provided by deCODEme should be used within this informational context, realizing that there are many other factors besides genetics that contribute to disease development of the complex diseases included in deCODEme’s information services. The goal of deCODEme is to empower you by helping you to get to know your genome. If the information provided raises questions or concerns about your health, we recommend you see your doctor and discuss other options of testing or implementation of approved preventive measures.

It’s starting to seem that the many uses of DNA are getting muddled up in people’s minds. Is it possible or desirable to keep different types of results segregated? For example, a customer may not be ready to know if he’s at increased risk of such and such disease, but he might be willing to dip his toes in the water for some fun stuff like seeing if he shares genetic markers with some political despot. Keeping the various types of genetic testing separate is possible but difficult. After all, all genetic testing examines the only set of DNA each of us has and the same stretch of DNA can tell more than one story.

The genetic testing market is still in its infancy. As it develops, it is sure to split off into services catering to each type of customer and the various information levels that are desired. deCODEme is on the right track by allowing their customers to turn off the disease risk prediction function but it would be even better when we’re able to create customized genetic testing packages to suit our individual needs. We may be as unique as our DNA but right now, genetic testing is still one package fits all.

What type of DNA test are you interested in? Take the poll below the fold.

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