Tag Archives: On-Line Genetic Testing

Sometimes I Wish I Wasn’t Right, Especially When I Am Being Ridiculous

So it goes

So it goes

So it goes

So it goes

But where it’s goin’ no one knows.

And So It Goes by Nick Lowe (1976)

Nearly ten years ago I wrote a DNA Exchange piece, “GeeKnowType – The Unique Gene Boutique,” an absurdist skewering of some of the DNA test offerings of direct-to-consumer labs. My online emporium offered imaginary testing for characteristics such as the clearly hereditary but mirror-obvious like eye color as well as traits that would be best described as “genetic,” such as sexual preference. I used dark humor to illustrate important points about the misuse and misunderstanding of genetic information. By the way, I know that nowadays we are supposed to call it “consumer-initiated testing” but it’s hard decide who really initiates testing when consumers are bombarded with over-hyped targeted advertising based on their viewing history or after watching disarmingly charming television commercials filled with story-telling about the power of genetic testing. “Personal, powerful, and perfectly priced,” as one website describes it. And if you believe that advertising does not influence your spending choices, well then that’s just proof of how well it works. Any con man will tell you that the easiest people to con are those who believe they are too clever to be duped.

Alas, I must report that fact has now robbed my fiction of its falsehood. All the absurd tests, or reasonable facsimiles of them, that I conjured up at the beginning of the decade are now commercially available at the end of the decade. Below I’ve reproduced part of my original posting along with links to vendors that now offer a real version of my imaginary tests.

M-eye Color©: Everyone thinks your eyes are brown, but you swear they are hazel. Who’s right? Only your eye color genes know for sure.

Update: Eye color is now often included as part of a package, so you really don’t have much choice about whether you actually want the information. And this “harmless” test has entered the creepy realm – preimplantation genetic testing  can be used to choose an embryo that has the most desirable eye color. God help us.

SwitchHitter©: Am I right-handed or left-handed? Do I have situs inversus or just a poor sense of direction? With the powerful awareness of your genetic handedness, your cilia will always beat in the right direction.

Update: Not offered directly by vendors that I am aware of, but SNPs for handedness are available and could potentially be accessed by downloading raw DNA results to a third party interpreter.

MyGeneColor©: What is your favorite color? Cerulean? Or is it really a cool shade of pinky-purple? Busy people don’t have time to recall these details. No worry – MyGeneColor will find out for you. You will never again be at a loss, whether you are painting your walls or painting your nails.

Update: This site makes the claim, among others, that DNA ancestry testing indicated that “African heritage generated rich, warm color palettes.” An extraordinarily genetically and culturally complex continent reduced to a few stereotypical hues. Oy.

GeneSequins©: How chic is your fashion sense? The Human Genome Project has proven that your Hip Quotient is genetically determined. We recommend that GeneSequins be run along with our RightWeigh and MyGeneColor products to give you a complete picture of your personal style.

Update: See the same site mentioned in above discussion about color preferences. British ancestry or an aptitude for math (!) suggested a preference for a plaid print crossed with geometric lines. Or read about it in the International Journal of Clothing Science and Technology.

 

RightWeigh©: Your scale says you are overweight, but you know you cannot weigh that much. In fact, research has shown that scales tell us more about our parentage than our eating habits. With your true genetic weight, you will no longer be a slave to unreliable scales that invariably add pounds to your real weight. Say good riddance to diet and exercise!

Update: You can choose between a more “authoritative” test from a reputable lab or from your basic shop-for-it-all site. Or even discover your “true” waist size. There’s clearly something unscientific about how clothing manufacturers are measuring so-called slim waists.

WhichWay©: Not sure if your sexual preference runs to men, women, or both? Ask your genes and they will tell.

Update: As thoughtfully critiqued on The DNA Exchange by genetic counselor Austin McKittrick, there’s an app for that, called 122 Shades of Gray.

 

WellRead©: How do you know which authors you like? More importantly, which ones do you actually understand? Should you be reading The New Yorker or People, James Bond or James Joyce?  Let us read your genes so you can read genetically appropriate literature – and save money on unnecessary magazine subscriptions.

Update: Okay, not exactly the same thing but this site claims it is possible to predict your genetic “word reading ability.”

Now don’t misread me, unless of course you have “inferior” word reading ability. It’s not that I am a stuck-in-the-2oth-century old school genetic counselor who thinks that DTC testing is the Eleventh Plague to scourge mankind (well, to be honest, most of the time I’m not that curmudgeonly). DTC offers the potential for a wide range of people who could benefit from genetic testing that has real clinical value. But when all tests, regardless of validity, carry the imprimatur of DNA, how are consumers supposed to distinguish the sensible from the nonsense?

In a parting note, less than 2 years ago I posted another satirical piece called “Sour Grapes: A Tragicomic Dystopia in The Consumer Genomics Counseling Space,” about an imaginary near future in which virtual home assistants arrange genomic testing and then offer to sell consumer and medical products based on DNA analysis. Well, sad to say, in a Moore’s Law type of “progress,” the gap between my predictions and their actualization has shortened to less than 2 years. 23Mofang, a Chinese DTC company, now offers specific skin care products based on a genetic predilection to saggy skin. I am starting to understand why seers and prophets are often portrayed as tragically shunned characters. I think I am going to get out of the predictive satire business.

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GeeKnowType – The Unique Gene Boutique

“Know thyself,” said Socrates. We at GeeKnowType agree – everyone should have access to the personal knowledge hidden deep inside their DNA. But not everyone needs one of those pesky certified genetic “specialists” to guide them through the maze of genetic testing. Even if you don’t fully grasp the subtleties of germline mosaicism or imprinting, you have a fundamental right to learn self-evident truths about yourself.

GeeKnowType, the leading on-line gene boutique, will unlock the treasure chest of your DNA. Discover your innermost desires, dreams, and destinies – so secret that, until now, even you were unaware of them.

With its focus on nonsense mutations, our patented SybilChip® technology will help you realize your full genetic potential. Simply send us a small sample of your brain tissue*, which you can obtain on your own with our free easy to use home neurobiopsy kit. Your confidential genetic profile can be posted on your Facebook wall, im’d to your favorite chatroom, or downloaded to your smartphone.

Join the millions of others who have taken advantage of the latest discoveries in the science of human genetics to  improve their personal, social, and sexual lives with GeeKnowType – the DNA test for people who want to be in the know.

Here is a sample of some of our most popular personalized genomic products:

M-eye Color©: Everyone thinks your eyes are brown, but you swear they are hazel. Who’s right? Only your eye color genes know for sure.

SwitchHitter©: Am I right-handed or left-handed? Do I have situs inversus or just a poor sense of direction? With the powerful awareness of your genetic handedness, your cilia will always beat in the right direction.

MyGeneColor©: What is your favorite color? Cerulean? Or is it really a cool shade of pinky-purple? Busy people don’t have time to recall these details. No worry – MyGeneColor will find out for you. You will never again be at a loss, whether you are painting your walls or painting your nails.

RightWeigh©: Your scale says you are overweight, but you know you cannot weigh that much. In fact, research has shown that scales tell us more about our parentage than our eating habits. With your true genetic weight, you will no longer be a slave to unreliable scales that invariably add pounds to your real weight. Say good riddance to diet and exercise!

WhichWay©: Not sure if your sexual preference runs to men, women, or both? Ask your genes and they will tell. WARNING: Not recommended for members of the US Armed Forces.

GeneSequins©: How chic is your fashion sense? The Human Genome Project has proven that your Hip Quotient is genetically determined. Don’t fret about a thoroughly embarrassing surprise visit from Stacy and Clinton! We recommend that GeneSequins be run along with our RightWeigh and MyGeneColor products to give you a complete picture of your personal style.

WellRead©: How do you know which authors you like? More importantly, which ones do you actually understand? Should you be reading The New Yorker or People, James Bond or James Joyce?  Let us read your genes so you can read genetically appropriate literature – and save money on unnecessary magazine subscriptions.

MyType or WildType©: Fed up with online dating services that set you up with a string of losers? Our DNA matching service will help you find your genetic soulmate….Oh, wait, never mind. We will have to cancel this test. Some other company beat us to the punch on this one.

Don’t see a genetic test that meets your needs? Our specially trained staff will help you design a personalized genetic profile that will tell you anything that you want to hear.

* – Minors under the age of 18 – please check with your parents before sending in your brain sample.

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The Great Genetic Counseling Divorce of 1992: A Historical Perspective On Change In The Genetic Counseling Profession

The advent of online genetic testing has spurred thoughtful and passionate debate  about the best way to deliver genetic counseling services. It is a polarizing issue with good arguments on both sides. The discussion recalls events that played out nearly twenty years ago – events that were critical to the development of the genetic counseling profession. Counselors young and old have much to learn by re-visiting this history.

In 1992, genetic counselors and medical geneticists were intertwined like the strands of a double helix. Most genetic counselors worked closely with medical geneticists. Even prenatal counselors often worked with obstetricians who were also board-certified medical geneticists. For the previous decade, professional certification of genetic counselors and medical geneticists had been overseen by the American Board of Medical Genetics (ABMG).

In 1991, ABMG petitioned the American Board of  Medical Specialties (ABMS) for the creation of an American College of Medical Genetics (ACMG).  Medical geneticists had much to gain in prestige and reimbursement by joining ABMS. ABMS agreed, with one huge provision – only doctorate level professionals could be accredited, effectively excluding genetic counselors from the deal. It felt like we were being sold out for a fistful of dollars.  How could we exist without the support of medical geneticists? Remember, this was well before the availability of other employment opportunities for genetic counselors that we now take for granted, such as in oncology, neurology, cardiology, or DNA testing laboratories. It appeared to be the end of the genetic counseling world as we knew it.

ABMG by-laws required a membership vote, and 2/3 approval from the membership was necessary for the motion to pass. Because genetic counselors made up about 40% of ABMG membership,

a united block of genetic counselors could stop the restructuring. Strong feelings on both sides made for tense moments. Genetic counselors were at odds with medical geneticists, and sometimes even with other genetic counselors. Professional relationships withered from the heated arguments. Both sides were armed with lawyers. Assets needed to be divided. It was not pretty (although the NSGC listserv is a wonderful resource, I am half-relieved it was not operating in 1992). Even now, I suspect this issue still raises ghosts of bad feelings, and some broken friendships have never healed.

When the vote finally came in 1992, ABMG membership approved joining ABMS, 977 in favor and 200 against. Fortunately, wiser heads prevailed. Ed Kloza, Ann Walker, and a few other unsung heroes negotiated a separation deal with ABMG and guided us through the birthing pains of establishing a new professional identity.

We felt like teenagers who had been kicked out of the house. Maybe our parents didn’t want us, but now we could be independent and grow up on our own. We were young and bright, with a bit of drag strip courage and a world of potential in front of us. Many genetic counselors continued to work in traditional settings and maintained close relationships with medical geneticists. But, freed from the bonds that tied us to medical geneticists, we were captain of our own ship, ready to set sail on uncharted professional seas.

The American Board of Genetic Counseling (ABGC) was incorporated in February, 1993. ABGC and NSGC are now firmly established as critical leadership organizations for genetic counselors. New employment opportunities unfolded like the wings of a butterfly emerging from a cocoon. The genetic counseling profession is now entrenched in the daily practice of medicine, and our services are sought by many medical specialties. The separation of genetic counselors from ABMG proved to be the best thing

that ever happened to North American genetic counselors.

Medical geneticists on the other hand, were more cautious. I suspect that they were still caught up in the traditional model of medical genetics service delivery and did not respond as quickly to changes in genetic technology. They are just now starting to catch up with genetic counselors in establishing working relationships beyond pediatrics and obstetrics.

Here we are in 2010 with new service models presenting themselves. As it was in 1992, our profession is torn by these issues. I do not know what the right answer is. But opportunity is knocking and asking us to take another journey with unfamiliar travelers. We can head down this uncertain path – or we can be left standing at the door.

For more on the ABMG restructuring, see:

“ABGC incorporates” Perspectives in Genetic Counseling 1993;15(1):1

Gettig B “Restructuring of ABMG: NSGC to move toward healing; vision” Perspectives in Genetic Counseling 1992/3;14(4):3

Epstein CR “Editorial: Organized Medical Genetics at a crossroad” American Journal of Human Genetics 1992;41:231-4

Heimler A, Benkendorf J, Gettig E, Reich S, Schmerler S, Travers H “Opinion: American Board of Medical Genetics restructuring: make an informed decision” American Journal of Human Genetics 1992; 51:v-viii

Kloza EM “ABMS report…evaluating the counselors’ status” Perspectives in Genetic Counseling 1992;14(1):7

Restructuring Committee “Review and update of ABMG status” Perspectives in Genetic Counseling 1992;14(2):1

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Counsyl, Counselors, and Counseling

Recent discussion on the NSGC listserv – and an article in the NY Times – has centered on the policies of Counsyl, a private lab that offers carrier genetic testing for more than 100 mendelian disorders.  Specimens can be submitted to the lab directly by patients, without a healthcare provider’s signature – and therein lies the rub, at least for genetic counselors.

For the moment I want to set aside discussion about the appropriateness of testing without counseling, accusations of corporate eugenics, and the ethics of direct to consumer marketing. To be sure, there are valid points to be made by both sides on these weighty issues. Instead, though, I want to critique the company’s website, and offer suggestions for resolving some of the problems surrounding on-line genetic testing.

On the surface, the website seems benign enough. The home page prominently displays the company’s values, all of which would meet genetic counselors’ approval.  Counsyl recommends speaking to a licensed genetic counselor or other qualified professional either before or after testing, with on-line links to locate one. Virtually all of the conditions they test for are serious, with none of the trivial traits like earwax type and eye color that some labs screen for. The site provides information and resources about the diseases (most of which challenge my store of clinical genetics knowledge). The test is reasonably priced and uses saliva rather than blood.The company offers financial aid for those who cannot afford testing, and offers to work with non-profit groups and NGOs.

But for all its dispassionate presentation of numbers and information, the website subtly manipulates consumers and could play on their fears and guilt. Let me highlight a few of my areas of concern; you can probably find a few more on your own.

  1. Each year millions of healthy parents are taken by surprise when their children are born with life threatening disorders” the site proclaims.That may be true globally, but most readers will use their own country as a frame of reference. Of the 4 million plus babies born in the US, the number born with the tested conditions is probably in the thousands. Certainly a sizeable number, but several orders of magnitude less than the website proclaims.
  2. For all diseases, the site provides data on carrier frequency but not disease frequency. 1/28 – the cystic fibrosis (CF) carrier frequency – sounds a lot scarier than the disease frequency  of 1/2300, and far more frightening than telling an untested couple they have a 99.9% of NOT having a child with CF.
  3. Hispanic/Latinos are said to be at increased risk of having a child with CF: “Two diseases are particularly prevalent among Hispanics: sickle cell disease and cystic fibrosis.” Yet the CF carrier rate cited for this population is 1/46, which is roughly half the carrier rate of Northern/Western Europeans.
  4. Of course, what parent would not be tested for a condition that can be cured or treated? The company claims that the testing can be “life-saving” and that “many treatment options exist” – then offers the following treatment options: preimplantation genetic diagnosis, sperm/egg donors, mental preparation, watchful waiting, and early childhood treatment.  Four out of five of these options have nothing do with treatment. And the vast majority of the diseases in question have no cure; treatment is usually symptomatic not preventative. Although PGD and sperm/egg donation is an option for a few couples, prevention really means abortion of affected fetuses. I could not find the word abortion anywhere on the site, though I did see a reference to “reproductive intervention.”
  5. The test is said to be 99.9% accurate. It would be more appropriate to say that the test is 99.9% accurate for the specific mutations that are being assayed. However, I suspect that samples are not being screened for all mutations at these disease loci, just the most common (I could not find an answer to this on the website).
  6. The website does not indicate that many newborns are already being screened for some of these conditions. And in the  site’s discussion of thalassemia, there is no mention that virtually all pregnant women are already screened reasonably effectively and cheaply for carrier status of this disorder with a CBC at their first prenatal visit.

I do not mean to imply that Counsyl is an evil or sub-standard laboratory. They are likely very sincere and dedicated in their desire to help people. Being a for-profit lab, though, their marketing needs to be aimed at, among other things, maximizing income.

We can sit around and tut-tut about on-line genetic testing. But like it or not, we are probably going to have to learn to live with some form of it. I therefore offer two suggestions to help us and our patients approriately utilize testing resources.

First, the National Society of Genetic Counselors should form a Laboratory Advisory Committee. For a fee, this committee would review a lab’s website and policies. If the lab passes muster, the lab can proclaim itself “NSGC Approved”. This could generate income for the NSGC, and allow us all to feel more comfortable if patients utilize approved sites. Obviously, the potential for conflict of interest and legal vulnerability is enormous, but this is a difficult – not an insurmountable – problem.

Secondly, genetic counselors need to conduct research to determine the validity of our concerns about on line testing and direct to consumer marketing. Is the medical and psychosocial harm as great as we expect? Some large studies such as the Scripps Genomics Health Initiative are under way, but it will be 15-20 years before this study is complete.  No doubt each of us can provide anecdotes that support our contentions, but these prove nothing. We need to collect data, figure out what it is telling us, and move forward from there.

We can point our fingers at on-line testing – or we can use our fingers to point the way.

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Post: See Laura Hercher’s take on the topic here.

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