Tag Archives: Direct to Consumer Genetic Testing

by | December 2, 2019 · 11:30 PM

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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by | December 17, 2018 · 6:53 PM

There Ought To Be A Word For That

Sometimes we don’t have the professional vocabulary to describe certain common counseling situations or patient experiences. So, as a service to my genetic counseling colleagues, I offer the below terms, acronyms, groaners, and neologisms to fill in some of the gaps in our lexicon. A few have nothing to do with genetics but I thought I’d claim author’s prerogative and include them anyway.

Roomba Session – A genetic counseling session with a patient whose thoughts, questions, and concerns are expressed in a stream of consciousness, non-linear fashion, jumping in a seemingly random manner from topic to topic, like a robot vacuum cleaner (hoover, for UK readers) pinballing around your living room floor. The apparent randomness is usually a function of the genetic counselor’s viewpoint; to patients, their comments and questions make perfectly logical sense (To raise a tangential paradox, if someone describes a vacuum cleaner by saying “It really sucks!” does that mean the device is a really good vacuum or a really bad vacuum?).

Portrait Session or Rembrandt Session – A genetic counseling session with impassive patients who never change their facial expression, i.e., like they are sitting for a portrait. They speak occasionally and then only in short non-emotional statements or “Mmmhmms,” despite your best efforts to engage them in meaningful dialogue with open-ended questions and probing statements. You never quite know where you stand with them or what they got out of your time together.

Gene Selfie – When healthy consumers undergo exome or genome sequencing without a clinical indication, just to see what their genes look like, and then share it with everyone on their social media accounts.

MTPNTUS – Acronym for Maybe This, Possibly Not That, Uncertain Significance. What many consumers learn about their hereditary disease risks from a gene selfie.

SOTSOT – Acronym for Some of This, Some Of That. What many consumers learn about their mixed ancestry after undergoing DNA-based ancestry testing, e.g., some German, some English, some French, a little bit of Neanderthal.

“I just got my Hominin Ancestry DNA results and I found out that I am 25% Denisovan! My father would be so upset if he knew – he thought they were an evolutionary dead end. And in a hundred thousand years my descendants will be 25% Irish, 30% Germanic, 25% Slavic, 18% Spanish, and 2% Ashkenazi Jewish. And Genghis Khan will have 5% of my DNA.”

Man-cestry Testing – Ancestry testing based on Y chromosome markers.

Manicure – Ridding a man of obnoxious common male habits and behaviors like manspreading and mansplaining (for the women reading this, let me explain what these terms mean …..).

Circumvent – The parental decision to avoid having their son circumcised. Among Jews, this can be much to the chagrin of mohels and mohalots.

There are two experiences that occur during the simple act of walking that are common occurrences in all of our lives and yet there are no words for them in the English language. The first of these is when two people, often strangers, are walking towards each other from opposite directions on the same side of the street or hallway. When they get close, they both maneuver in mirror-image to each other, simultaneously sidling in the same mirror-image direction several times to avoid walking into each other. It is often followed by the question “Shall we dance?” The motor vehicle equivalent occurs when two cars arrive simultaneously at right angles to each other at a 4-way Stop. Both cars inch out at the same time, then continue to stop and start synchronously, until one driver finally gives up and signals with either a hand wave or a flashing of headlights for the other driver to go first.

The other unnamed common experience is the uncanny ability of slow-walking people to obliviously occupy all the available walking space such that it is impossible to walk around them without bumping into them or seriously  breaching their personal space. I have found it to be common in hospital hallways, where I often encounter several families members walking 3 or 4 abreast, like an O-line trying to prevent the defense from tackling the quarterback. The frequency of such encounters in hallways and streets has dramatically increased over the last decade because nearly everybody is looking at or talking into their smartphones while walking. Nothing against walking slowly; we all walk at our own comfortable paces. Just do so with a sense of awareness of the world around you.

Do any of the Good Readers of the DNA Exchange have suggestions for terms to describe these latter two phenomena? How about terms for other common but unnamed genetic counseling experiences?

Yet again, many thanks to Emily Singh for help with graphics.

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by | March 18, 2018 · 6:27 PM

Medical Strategy or Marketing Strategy?

A well-known direct-to-consumer (DTC) genetic testing company now has FDA approval to include a very limited form of BRCA testing with its DNA genotyping product. I refrain from mentioning the company’s name because they already got enough free press from the announcement. You probably know what company I am referring to, and if you don’t, well, follow the above link. Sorry Unnamed Company, but I am not going to make the free advertising that easy for you, no matter how insignificant the source. Besides, I see it as a bigger issue than just one company’s policy.

For now, the analysis is limited to the three BRCA1&2 mutations that are more common among Ashkenazi Jews. Actually, the company offered the same 3 mutation test until they were slapped with a cease and desist letter from FDA in 2013 to stop all medically related testing. So this new announcement amounts to a resurrection of a nearly decade-old policy, not a groundbreaking innovation. Funny, though, that there was not this much to-do when the test was first offered.

The genetic counseling community is in a bit of a dither about this, including me, though admittedly part of the reason I am writing this blogpost is to help me figure out just what I am dithering about.

Some of the concerns are obvious. People may be under the misconception that a negative result = no increased risk of hereditary breast/ovarian cancer and thus some high risk women may forego potentially lifesaving surgery and appropriate screening strategies. Then there is the worry that patients will not follow through with genetic counseling if the testing is positive, or that high risk patients will not seek genetic counseling and more testing if the result is negative. If you are not Ashkenazi Jewish, the test does not seem to offer much benefit. And even for Ashkenazi Jews, the testing does not include the ~10 other genes linked to hereditary breast cancer and the ~10 other genes linked to hereditary ovarian cancer.

The company recommends verifying positive results with an experienced clinical lab.  For that matter, then, why not verify a negative result, if there is that much uncertainty? Why bother having a test if you can’t fully trust the result? I suspect though that there is probably little reason to doubt the test result and that the company makes this recommendation to keep FDA happy and to minimize their legal exposure rather than concerns about assay validity.

Incidentally, the cost of the company’s product is really not much different than the more comprehensive multigene hereditary cancer panels offered by some of the clinical testing labs, and in some cases more expensive.

Eight years ago I shared my first experience with a patient whose BRCA carrier status was detected through DTC testing. My patient’s experience and a few more cases I encountered since then have not been that different than my patients who went through the usual counseling and testing process. A 2013 study by the company  showed that the 11 women and 14 men who discovered their BRCA status through DTC testing had experiences similar to my patients. That last statement is brimming with caveats – small sample size, at least for my patients they were savvy enough to want to see a genetic counselor, personality traits of the earliest users of new products, no long-term follow-up, etc. But I am not aware of any independent, large-scale studies of patients who learned their BRCA status through DTC testing to more definitively address the pros and cons, other than studies offering BRCA testing that targeted all Ashkenazi Jewish women.

I readily admit that I may be proven wrong, but I am guessing that most of the consumers of this DTC product – note they are not patients because the test is not intended for clinical use – will opt to learn their BRCA status. After all, people have this testing to learn about their genetic makeup. I am also guessing that this may be the company’s proverbial toe-in-the-water; I would not be at all surprised if additional clinically useful testing is part of the company’s future product and marketing plans.

At heart, I don’t like the idea of DTC BRCA testing. I think about all the ways it can go wrong, and inevitably some of those ways will come to pass. But will it go right often enough, and go wrong infrequently enough, that there will be adequate benefit to justify offering DTC testing? Undoubtedly, some of my uneasiness stems from a professional conflict of interest; DTC eliminates my role as an interface between patients and testing. Personally, I think being a middleman is a good thing because it can help patients take a thoughtful deep breath before leaping into the gene pool. But that could be because I have been trained to think that way and because it supports the value of my professional career. What I really should want is for patients to have access to genetic information in a manner that is affordable, accurate, psychologically and emotionally appropriate, and medically useful. If DTC and other forms of offering BRCA testing works for many men and women, then I should swallow my professional pride and acknowledge it.

So having stewed on this for a while, I have come to the realization that my argument isn’t with this company per se. Other companies aggressively market hereditary cancer and other genetic testing to average risk people. For example, one company approached my institution with the idea of offering their product to all women coming in for breast imaging, with saliva kits kept in the mammography center along with a prescription pad with a genetic counselor’s name on it acting as an ordering provider for the test (legal in my state). Although many labs employ genetic counselors who work directly with patients to review test results, this is still not the same experience as meeting with a genetic counselor before undergoing testing to explore the complex medical and psychological issues surrounding genetic testing. And the highly respected Dr. Mary-Claire King has advocated for population based genetic screening for establishing hereditary breast cancer risk. Are DTC clinical testing and other consumer-friendly strategies disruptive ideas that will bring about much-needed change or are they just bad but well-intentioned ideas that will also fill company’s coffers and keep investors happy?

Having sifted through and weighed my thoughts and feelings about DTC testing or other genetic test delivery models, I have concluded that my problem is not with DTC or other models per se. My argument is with how these new testing approaches are introduced into clinical practice, typically under some version of the banner of liberating testing and bringing it to the people. I do not doubt the labs’ sincerity when they say they are trying to improve access to medical care and reduce the suffering from cancer and other illnesses. But these are as much marketing strategies as they are medical strategies. Labs should not be calling the shots on the introduction of new tests and practice models because, in the absence of well designed studies, we really have no idea if these new approaches are effective in reducing cancer risks and increasing high risk screening when indicated, or if they are in the patients’ best emotional and psychological interests. Just throwing a mess of tests out there and encouraging everyone to take one is, in my view, irresponsible.

A better approach is to first conduct controlled and ideally randomized studies that evaluate both new and novel testing strategies to determine the most beneficial one(s) for patients, or if different types of patients benefit differently from different strategies. For example, age, family history, medical history, psychological functioning, and socio-economic status could all conceivably affect outcomes, not too mention the all too real possibility that many Americans may lose health insurance in the near future. While labs should play a critical role in that evaluative process, to keep it as clean as possible the studies need to be conducted and overseen by researchers who have no financial benefit from the outcomes of such studies.

We are in this together, so let’s work together.

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by | July 23, 2017 · 4:43 PM

Sour Grapes: A Tragicomic Dystopia Set In The Consumer Genomics Counseling Space

So-called recreational genetic testing that provides information about non-clinical traits is often dismissed as harmless. Maybe that’s so. But there is a worrisome potential to any test when technology, artificial intelligence, marketing, and medicine become increasingly intertwined with our personal lives. The mini-play below is a tragedy lurking around the edges of a comedy.

Parental Warning: Some readers may find parts of this posting to be offensive. On the other hand, one of the roles of dark humor is to shock us into ethical recognition.

Setting:  The living room of a married couple who are planning to start a family and desire genetic counseling after learning the results of their ReProfile test, a (fictitious) direct-to-consumer genomics test panel aimed at providing genetic information to prospective parents prior to conceiving a baby.

Dramatis Personae:

Jeanoma [J], a Virtual Personal Genetic Counseling Assistant

Husband [H]

Wife [W]

W: Jeanoma, On! Please pull up our ReProfile results. We received them last night and now we want to discuss them with you.

J: This conversation may be recorded for quality assurance and marketing purposes. Hello, Wife and Husband. I have your ReProfile Basic® test results right here. What are your questions and how can I best address them for you? And are you interested in the ReProfile Expanded test®? It covers more traits than the ReProfile Basic®test. I can upgrade you now, if you’d like, at our Preferred Customer discount price.

H: Jeanoma, no upgrade for now, thank you. We are planning on having children soon so we took that saliva test to have as much genetic information as possible. We want to make the most informed pregnancy plans, have healthy children, and manage our hereditary risks in a rational way that reflects our beliefs and values.

W: Jeanoma, wine is a very important part of our lives. We are dedicated red wine drinkers, as were our families. Of course, I know better than to drink it when I become pregnant. But we have wine with dinner almost every night. We belong to wine clubs. We regularly visit wineries for tastings. We have taken continuing education classes on oenology. Sommeliers sometimes ask us for recommendations. We met at a tasting for 2012 Willamette Valley Pinot Noirs. As I am sure you know, pinot noirs are particularly sensitive to soil characteristics. We think that the unique terroir of the Willamette Valley AVA produces a wine that sometimes put Burgundies to shame. So you can imagine our shock when we learned from our ReProfile test that we might be at risk of having a child who will like only white wine…….champagne for celebrations, sure, okay, we get that, but…..chardonnay, so oaked, or so… bland (Represses a tear). As we understand it, multiple genes determine wine preferences. The two of us have mostly Red Wine genes, but we each have some recessive White Wine genes and our children have a 38% chance of inheriting enough White Wine genes that they would be white wine drinkers. That risk is so high!

H: Nods in agreement, reaches for his wife’s hand. She pulls it away and turns her head to look out the window.

J: These genes code for a molecule called oenorin, a taste receptor that influences your wine preference. Different versions of these genes, called alleles, correspond to red and white wine preferences.These different alleles are named rouge and blanc. We stock an exclusive selection of  small batch release Oregon Pinot Noirs that I can have on your doorstep tomorrow, if you’d like.

H: Jeanoma, so that means that our taste preferences are determined by our genes…..Let me think about that pinot order for a bit.

J: Let me be clear – genes don’t determine our fate. There is a lot of variability in our palate profiles related to our upbringing and environment that influence the ways that our genes are expressed. It must be hard on the two of you to adapt to this new information. What are your feelings about these test results?

W: Jeanoma, we know that we could cope with any issues and problems our kids might have. I am sure that we will love them no matter what. We are not bad people. We know plenty of white wine drinkers who seem content. But why not use the latest technology to help avoid those problems?

J: It looks like this is a very important issue for your reproductive plans. Tell me more about your wine experiences with your families when you were growing up. I can also order the Family Ancestry Test® to further explore your genetic heritage. If you agree to donate your DNA to our Product Development Research Lab you receive a 10% discount.

W: Jeanoma, I felt just terrible for my older sister. We all love her to death. But she didn’t have the Red Wine genes. She was left out of family conversations at supper, stayed home during family outings to wineries. My other siblings teased her mercilessly. She would storm away from the dinner table in tears, her glass of cab untouched or secretly fed to our dogs Rosso and Barolo. She spent many nights locked in her bedroom where I know she was surreptitiously sipping an overly sweet Riesling. My parents wound up yelling at us, and eventually at one other. My mother always blamed the White Wine genes on my father’s family. She would drop the sarcasm bomb – “What does your family know about wine? They’re from North Dakota.” It tore my family apart and my parents eventually divorced. I promised myself that my own family would never be like that. That was why we took that genetic test – to help avoid a broken family. Now, I wish I never had that stupid test. It only upset me and made me anxious. And thanks but no Family Ancestry Test® for now.

H:  Jeanoma, I was an only child, so I never had a sib that I could share my wine experiences with. I wanted something different when I had my own children. I wanted to have four kids who would bond over their pleasure in red wine.

W: Four kids? You never said anything to me about wanting four kids.

H (Shrugs his shoulders): I thought you knew that I’ve always wanted a big family.

J: It sounds like you two need to have some important conversations. Have you thought about seeing a marriage counselor? I can set up an appointment if you would like. Or I can order the three best-selling marriage improvement books from our bookstore and download them on to your e-readers.

H and W (in unison): Jeanoma, uh, that kind of counseling is not for us. We can handle our own problems ourselves.

W:  Jeanoma, right now we don’t feel like reading about our problems either. We want to talk about them.

H: Jeanoma, what do you think we should do?

J: I can’t tell you what to do. Only you two know what’s best for you. But there are a couple of options that might help you. Some of these are very sensitive and you may initially think they are not for you. But you should give each one serious consideration. Challenges sometimes force us to question and change our beliefs.

Some couples in your position just do nothin, choose to roll the reproductive dice, and see what turns up. I can order a set of casino quality deluxe dice for you and have them delivered in two hours to your roof deck with our Drone Delivery System®. Other couples decide to use a genetically screened sperm or egg donor. I can arrange a contract with a donor from Eugene/Eugenia®, our proprietary donor list, if you’d like.

H: Jeanoma, you mean use another man’s sperm to get my wife pregnant or have another woman’s egg in my wife’s womb? No way! And rolling the dice is not an option. We had this testing so we would not have to leave child-making to Lady Luck.

J: Yes, it is difficult to consider, but I urge you to keep an open mind. Another option is preimplantation genetic diagnosis, or PGD.

W:  Jeanoma, is that some kind of test tube baby or something? One of my friends did that.

J: PGD is a special type of test tube baby. You would undergo in vitro fertilization outside of the womb, using your own egg and sperm. The fertilized eggs would be tested for their wine preference profiles. Only Red Wine Profile fetuses would be implanted into your uterus. I can set up an appointment with our Accessorize Your Baby fertility clinic for later this week so you can learn more about this option.

H: Jeanoma, that sounds like it would be expensive. Is it covered by insurance?

J: It is expensive. Some insurers cover all or part of it. Other people choose to have prenatal diagnosis, like amniocentesis or chorionic villus sampling, and then make a decision about whether to continue a pregnancy based on its genetic profile. Other people would not terminate the pregnancy but use that time before birth to adapt to the idea of having a differently wine-enabled child. This way when the baby is born, the parents are well prepared. But I have to advise you that these tests carry a small risk of miscarriage. Would you like to purchase miscarriage insurance? It is much cheaper if you buy it before you become pregnant.

W: Jeanoma, I might consider prenatal diagnosis. I don’t believe in terminating a pregnancy, but I might like to have the emotional preparation. That could be helpful for us, even if there is risk of losing the pregnancy from the testing. Knowledge is power. I would know not to drink red wine before breast-feeding because a White Wine Child might reject my breast milk. I could read about it on the Internet and join online support groups for parents who are attempting to raise White Wine Children or Trans-Wine Children who like both red and white wines. If it’s a girl, we could name her Rosè!

H: Jeanoma, what about this CRISPR thing I’ve read so much about on the Internet?

J: CRISPR is a technology that can alter the DNA sequences of the embryo before it is implanted, to correct any gene mutations. Think of it as a genetic nip and tuck. However, I have to warn you that this is a controversial new approach. Would you like to sign up for Jeanoma Inc.’s CRISPR Helix Adjustment Program®?

W: Jeanoma, I think it could help us solve our problem if it works. And it avoids a lot of the uncomfortable ethical issues of prenatal diagnosis. I am sure we can figure out how to pay for it, no matter what the cost. This is a priority for us. Maybe you can get that appointment set up for us.

J: I can do that. But let me first bring up something else. The ReProfile Basic results of Wife indicate that Wife is at a higher risk of developing breast cancer. What are your thoughts about that, Wife? Would you like me set up an appointment for a mastectomy? Would you like to purchase breast insurance?

W: Jeanoma, oh, that doesn’t worry me. I exercise a lot, I have a very healthy diet, I will be very good about my mammograms, and I only have one or two relatives with breast cancer and they were both smokers, so I think I am not at such a high risk. Besides, all the breast cancer is in my father’s family.  He certainly can’t give me any breast cancer genes. And I look just like my mother and there’s no cancer in her family.

J: Okay, can I do anything else for you today?

H: Jeanoma, yes, please do order that case of Oregon Pinots.

W: Jeanoma, Off!

J: Goodbye Wife. Goodbye Husband.

Thanks to Emily Singh for help with graphics

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by | April 9, 2017 · 7:32 PM

FDA and 23andMe change their Facebook status to ‘in a relationship’

In 2007, 23andMe launched their personal genome scan, a SNP-based test that offered consumers an estimate (some might say a guess) as to how certain elements of their genotype might contribute to their likelihood of having an array of traits and diseases. It was a great success, if success was to be measured in ink and column inches rather than actual dollars. Anne Wojcicki’s company quickly came to represent the embodiment of direct-to-consumer genetic testing, an icon of what was more a movement than an industry.

 

For that reason, six years later, when the FDA surprised 23andMe with a cease and desist order for their genome scan, it could reasonably be taken as a rejection of not only one company but the entire DTC ethos. At the time, many canny observers pointed out that the FDA’s drastic move seemed to have more to do with 23andMe’s attitude than it did with any specific risk posed by testing. As Duke University genetic professor and trenchant observer Misha Angrist was quoted as saying at the time, the FDA missive read “like the letter of a jilted lover…‘We went on fourteen dates! We exchanged all these e-mails! We held hands in the park! Now you’re telling me, “Fuck you,” and kicking me to the curb.’ ”

 

In response, a chastened 23andMe kept a toe in the DTC puddle by offering testing for ancestry and non-medical traits like sleep patterns and eye color while negotiating a slow courtship of the regulatory body. Eventually they got flowers back from the FDA – or rather a single flower, permission to offer just one carrier test, for the aptly named Bloom syndrome. But this blossom, like many others, was freighted with greater significance, and now that they were friends again the FDA decided that other DTC carrier tests would no longer require individual premarket approval, allowing 23andMe to add back a layer of medical testing to their business model.

 

The FDA drew a line between giving out information on carrier status (okay) and giving out information that was diagnostic (not okay). This created the odd situation where 23andMe could tell a customer if he or she had, for example, one CF-causing variant but was forbidden to inform them if they had two, since that was a presumptive diagnosis. Let’s leave aside how confusing this all gets, since sometimes people can have two disease-causing variants and remain healthy, and sometimes carriers can have medical complications. I’m not even going to mention that. See how I didn’t mention that? The bottom line was that 23andMe could inform you of a risk for something that might happen, but only if it was a mere possibility and not if it was certain or highly likely.

 

Two years later, the FDA has come out with another announcement – this time I assume that 23andMe is less surprised than the rest of us – that will expand the universe of what is available through DTC testing. The company will now be allowed to provide testing for susceptibility to 10 diseases and conditions with significant health implications, including late-onset Alzheimers disease, Parkinson’s. celiac, Gaucher’s disease type 1, hemochromatosis, and others. Again, this isn’t just a bouquet of flowers being handed out to a patient suitor. It signifies a change in thinking at the FDA about the value of DTC genetic testing, which they noted in their press release “may help to make decisions about lifestyle choices or to inform discussions with a health care professional.”

 

No but really this is getting embarrassing get a room you two.

 

The FDA announcement indicated that these 10 diseases were merely a beginning. In the future, 23andMe and other trusted practitioners will be able to introduce tests with less regulatory scrutiny. The FDA’s commitment to a streamlined and less burdensome process demonstrates a new interest in making DTC genetic testing widely available.

 

The important thing, emphasized Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, was that consumers did not come away believing that genetics was destiny. “…it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.” For this reason, the FDA has doubled down on it’s practice of differentiating between susceptibility and diagnosis.

 

Conceptually, this makes sense. Practically, in some cases, it creates a situation where DTC customers can access the sort of probabilistic information that we are generally loathe to give out in a clinical setting – like their chance of getting late-onset Alzheimer’s disease – but are blocked from getting exactly the sort of definitive, actionable information we value the most.

 

Possibly, this might serve to differentiate the realm of DTC testing from the kingdom of clinical medicine. Genetic counselors, often DTC skeptics, might feel more comfortable adopting a live and let live approach if areas central to GC practice like susceptibility for cancer and heart disease were reserved for the clinic. Still, when it comes to ApoE, it is a bit of a paradox that the solution to information deemed too hot to handle by counselors is to give it out with no counseling at all. The impact, I am inclined to believe, will be to speed the integration of probabilistic testing into genetic practice. In the meantime, it will almost certainly herald a period of rapid expansion of health and wellness testing in the DTC space.

 

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by | April 3, 2017 · 12:56 PM

Barriers or Filters?

 

Both good and bad can be said about Direct to Consumer (DTC) genetic testing. Some of the tests offered are probably better labeled Dreck To Consumer. Please, somebody, issue a cease and desist order for MTHFR testing. Or better yet, make it a criminal offense, punishable by sentencing to hard time at the Clockwork Orange Folic Acid Supplementation Rehabilitation and Penal Colony.

On the other hand, I am betting that established labs that currently offer clinically useful genetic testing will be migrating toward a greater presence in some form in the DTC market. This trend will be driven, by among other things, the demand on the part of some patients because of the convenience factor, the increasing uptake of BRCA testing by unaffected women, and by the potential income source it would create for labs. Whether clinicians like it or not, some form of DTC testing will probably play an increasing role in patient care in the near future. We will need to adapt to it, even if it makes some of us feel uneasy. My prediction is that we will initially see the most significant inroads in the area of DTC germline testing for cancer predisposition gene panels that include BRCA, Lynch, and their kindred.

Another  factor that could drive DTC testing is that genetic counselors are sometimes viewed by clinicians, labs, and consumers as barriers to genetic testing. For patients, just finding the time in their busy lives for an hour long appointment and verifying insurance coverage for the consultation is no mean feat. Then there is the genetic counseling ethos of nondirectiveness and genetic counselors’ obsessive urge to (over?)educate patients, which can result in some patients coming out of the session saying No Thank You to genetic testing for now, much to the chagrin of their referring care providers. Not to mention the lack of genetic counseling manpower in some parts of the country. From this perspective, you start to understand why some critics claim there can be a reduced uptake of genetic testing when a genetic counselor is an intermediary between patient and laboratory.

Genetic counselors might cringe at the thought of patients entering the genetic testing pathway without having worked through the emotional implications, and possibly partially blind to the clinical and personal implications of positive, negative, and uncertain results. We somewhat paternalistically view ourselves as guardians of our patients’ medical and emotional well being. While genetic testing may be important for patients, at least for unaffected patients genetic testing is rarely an urgent matter. It can take place today, next week, a few months, next year, or at some point in the vague future. Perhaps that is not so terrible because a test result delivered at the wrong moment might backfire by causing the patient to go into a psychological tailspin and possibly wind up avoiding risk reducing and screening strategies. In this way, genetic counselors are more like filters than barriers, helping ensure that nobody takes a deep dive into their gene pool without first pausing and taking a deep breath.

This response may be partially and subconsciously influenced by the fact that our jobs depend on the steady stream of patients seeking genetic testing. DTC also takes away some of the “gatekeeper” power inherent in our positions. Conflict of interest affects us in ways that can make us too uncomfortable to acknowledge that it might it shape our beliefs and attitudes.

Enter DTC into this drama, stage right. If you are a patient who has a few hundred bucks to spare, you can avoid carving a chunk of precious time out of your busy schedule to set up a genetic counseling appointment (and maybe 2 or 3 appointments, depending on the provider’s policy of requiring separate appointments for counseling, test, and results disclosure), avoid those incomprehensible (non)explanations of benefits from health insurers, and with saliva testing skip the unpleasantness of a blood draw (although saliva collection has its own icky issues). Those forward-thinking online genetic counseling services that are unaffiliated with specific labs may help mitigate some of these perceived barriers, but maybe not enough for the majority of patients. DTC labs make it pretty easy to sign up for genetic testing, no muss, no fuss, never needs ironing. If I am honest with myself, in some situations – and maybe more often than I am willing to acknowledge – the “hassles” of genetic counseling may very well serve to discourage a goodly number of patients from undergoing genetic testing.

One concern about DTC is the way that labs may try to portray their tests to patients. Labs typically strive to act in patients’ best interests and try to make sure that patients get the genetic testing they need. By and large I find them to be just as committed as I am to providing excellent patient care. But at the end of the day they are businesses, and even if they have noble aspirations, it is in their best interests for as many patients as possible to undergo genetic testing. This can subtly influence their advertising under the rubrics of patient education and patient empowerment.

The best example I can think of to illustrate this point is the websites of many labs that offer cancer genetic testing, DTC or otherwise, which often cite the high end of disease risks in hereditary cancer syndromes. Labs aren’t lying to patients when they quote 80-90% lifetime breast cancer risks or whatever. But it certainly makes their genetic tests look more clinically critical than, say, the 40-50% risks found in some studies. It’s not that the 40-50% risk is necessarily closer to the “true” risk than 80-90%. The point is that there a range of risk estimates out there and which risks one chooses to present can be influenced by many factors.

Here is one lesson I have learned from ~34 years of genetic counseling with about a jillion patients: Nobody undergoes genetic testing until they are emotionally ready. Sometimes that readiness is thrust upon the patient, such as when a patient is diagnosed with cancer and has to make treatment choices fairly quickly. But for unaffected patients, some emotional triggering event(s) needs to occur before they make a genetic counseling appointment. Examples of triggering events might include reaching an age when the patient’s own parent was diagnosed with cancer or when their own child reaches the age the patient was when the patient’s parent was diagnosed; having a false positive “scare” on a mammogram; a recent cancer diagnosis in a loved one; a media celebrity such as Angelina Jolie sharing a personal cancer story; reaching a certain stage in life where, as one patient put it, “It was time to start acting like an adult” (which I suspect for many people is the incipient stages of facing their own mortality); having a grandchild; or gazing at your child one day and realizing that you might want to be around for your kindergartener’s college graduation.

If my observation about what leads patients to genetic testing is correct, it will be interesting to see if affordable, convenient, DTC genetic testing will itself become the trigger event that nudges patients into undergoing genetic testing. Would this be good or bad? Will we see a rapid proliferation of genetic testing for hereditary cancer or other syndromes if DTC testing becomes widely available? Will this translate into clinical gains that are also economically cost effective, such as increased uptake of risk-reducing surgery and high risk screening? Who will watchdog labs to assure that they offer a quality, uniform, and trustworthy product that patients can depend on without first doing in depth research about depth of coverage, variant calls, and the other arcana of genetic testing? If recent calls for cancer genetic testing for essentially everyone, such as the proposal by Dr. Mary-Claire King or Canada’s Screen Project, become widely embraced, will DTC be the most efficient way to deliver the service? Will life insurers start requiring genetic testing before a consumer is eligible for a policy? How often will untrained care providers and patients misinterpret test results? Will it turn out that genetic counselors are barriers to genetic testing or are they filters who help ensure that the appropriate patients get the appropriate testing at the appropriate time in their lives? Will genetic counselors wind up largely becoming, as I have predicted for years, phenotype counselors who meet with patients after genetic testing?

Nobody knows the answer to these questions, although a lack of data has never been a barrier to strong opinions. This is the time to plan research studies that can help address them. The genetic counseling profession needs to continuously adapt and evolve. But it needs to do so without losing its soul.

 

Thanks again to Emily Singh for help with realizing the graphics.

 

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by | August 15, 2010 · 8:44 PM

A DNA Day Surprise

There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing of evidence – perhaps because there is no evidence.

A recent encounter with a patient who utilized DTC testing has forced me to confront my thoughts on this issue. I am purposely avoiding mentioning the name of the company – the company does not need free advertising, and the specific company does not matter to the issues at hand. I have modified the patient’s name and some personal details to be absolutely sure that anonymity is maintained.

 

Zoe, a bright and articulate 30-something Ashkenazi Jewish woman, called me on the advice of her primary care physician. She had no specific health problems or family history concerns, but likes to keep herself educated about health matters. She maintains a healthy life style and has long been interested in learning as much as possible about her disease risks. She does not have children, but would like to start a family in the near future. She came across the website of a DTC company that happened to be offering a special deal on their genetic screen to celebrate DNA Day. So, she and her sputum took the plunge.

The results were a mish-mash of not-particularly-helpful information such as a slightly higher risk for diabetes, slightly lower risk for cardiovascular disease, wet ear wax, and curly hair (which hung plumb-straight to her shoulders). But she didn’t call me to discuss her ability to smell asparagus metabolite in urine. Instead, right there,  nestled among the results of her Measure of Intelligence and her Longevity, was a deleterious BRCA mutation.

What does this mean, she asked me over the phone? I suggested she make an appointment with me or, if she preferred, she could ask the DNA testing company if they had certified genetic counselors on staff who could work with her. The company offered her a list of genetic counselors in her area, but did not themselves employ genetic counselors.  A few days later, she was in my office.

Creature of habit that I am, I began with a pedigree, but no matter how hard I shook the family tree, the only cancer that fell out was a late onset prostate cancer in a distant relative. Not surprisingly, one side of the family contained very few females. She peppered me with questions about cancer risks, screening, and prevention. She took it all in, duly taking notes and asking appropriate questions. Although the cancer risks were concerning to her, she was reassured by the availability of options to reduce her cancer risks or to improve the chances of detecting breast cancer at an early stage. She was not ready at this stage of her life to make surgical decisions. She had alerted her family to her results, and they planned to have a family meeting after she had met with me to discuss what they would do next. In short, it went pretty much like your average BRCA Positive Informing Session. She was quite satisfied with her dealings with the DTC company, and was planning on encouraging others in her social circle to consider testing as well. I sensed no significant emotional distress beyond what you would ordinarily expect.

The lab is CLIA-approved, and out-source the BRCA Ashkenazi Panel to a well-known lab. Although the patient was concerned that sputum was not as accurate as blood, I assured her that I saw no need to repeat her testing unless she wanted independent confirmation for her own peace of mind. But this would cost her about $600, and since there was no family history of cancer, it would not be covered by her insurance. The DTC lab charged her far less than that, and in her view, she received more information for less money.

For Zoe, DTC testing was a very positive experience. She received valuable information that could very well wind up saving her life. With no family history of cancer, she would not have started breast cancer screening for nearly another decade, and would likely otherwise never have pictured a risk-reducing salpingo-oophorectomy in her future. As an aside, I think it is a forceful example of the potential advantages to offering BRCA screening to all Ashkenazi women (yes, I recognize the possible downsides and intricacies too). It also partially counters the argument that we can tell patients more from pedigrees than we can from DNA tests.

Zoe was the ideal person to utilize DTC testing. She is bright, educated, and eager to improve her health and avoid disease. She had the financial means to pay for testing and counseling (neither of which were covered by her insurer). She is emotionally stable, and the information, while surprising to her, was not particularly upsetting to Zoe or (by her report) her family. While there could certainly be long-term psychosocial issues, my gut sense was that she was not at high risk for serious problems. Of course, one could easily imagine patients who might react very differently in this situation.

My criticisms of the experience are mostly minor. The written information provided by the lab about the implications of BRCA results was fairly minimal. I tried to contact the lab to ask technical questions, but the lab’s website does not offer a readily apparent Contact Us section. It took some digging around to find a general email address, and then it took the lab 2 days to reply to me. If labs and genetic counselors are going to work together, labs need to improve their communication with health professionals. The lab rep insisted that the results were not intended for medical purposes. But, come on, BRCA results can be a matter of life and death. DTC labs need to step up to the plate and clearly acknowledge that at least some of their results have very important implications for medical care beyond telling someone to exercise more, eat less, and hold your nose when you urinate after eating asparagus.

Zoe also learned that she is a carrier for a few potentially serious genetic diseases that could affect her reproductive decisions (which she found helpful). There was also the usual collection of “Self Evident Why Did They Bother Testing For This Stuff” traits like photic sneeze response, odor detection, pain sensitivity, etc. While it is easy to make fun of these, in spirit, the information is not very different than the type of information that couples seek from sperm and egg donors when going through assisted reproduction.

We need to report our experiences with patients like Zoe as case reports and with larger qualitative and quantitative studies. We have much to learn, and it can help inform policy decisions, patient experiences, and professional debates. We should not reject DTC testing outright; there are situations where it in fact it may be quite appropriate. Until we study the phenomenon, we have no right to form extreme opinions about it. Without information, it’s a an argument, not a debate.

Genetic counselors are sensitive to the psychosocial ramifications of genetic disease. But if we insist that everyone who has a genetic test first see a genetic counselor, are  we creating an aura of specialness and mystery about genetics that can be a factor in the development of psychosocial sequelae? Should we be setting aside genetic testing from other medical tests and treating it as SOMETHING VERY SPECIAL? Perhaps for some patients, genetic testing is not such a big deal, but if we insist that it is a big deal, we might be contributing to some of the very psychosocial problems we are looking to minimize.

I would like to hear from other genetic counselors who have worked with patients who have gone through DTC testing – the good, the bad, and the ugly.

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by | June 14, 2010 · 10:52 PM

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.

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