Tag Archives: direct-to-consumer testing

Great Expectorations – A NextGenetic Counseling Model?

One of the few things we can all agree on is that there are few things we can all agree on. – Quote attributed to Yours Truly.

Genetic counselors have an uncanny knack for being in the right historical time and place. We have combined this historical luck with an almost naive courage in taking professional risks and parlayed them into a phenomenal growth rate for the profession. As soon as any new genetic testing technology was barely in the womb – amniocentesis, CVS, maternal serum screening, hereditary cancer testing, cardiac genetics, whole exome/genome sequencing – genetic counselors were there to gestate it and deliver it into medical practice.  We have frequently re-invented ourselves to meet the needs created by new technologies – cardiac counselors, neurogenetic counselors, oncogenetic counselors, whole exome counselors, lab counselors. But one area where we may have stumbled a bit is direct to consumer (DTC) genetic testing. How do genetic counselors fit into a service that wants to bypass genetic counseling and that so far has been of dubious clinical value?

In our e-tail world where you can purchase just about anything online, some version of genetic testing/counseling that bypasses the traditional clinician-in-the-clinic model seems inevitable. Indeed, Color Genomics, a biotech start-up backed by players in the genetics and tech communities, is now offering what is essentially a hybrid of the traditional genetic counseling paradigm with DTC testing for hereditary breast cancer risk assessment. Tests are ordered and interpreted by a physician “either your own or one designated by Color.” Patients request a test kit directly from the lab, provide a saliva sample and then mail the kit back to the lab. The 19 gene panel includes BRCA1/2 along with the usual list of genetic suspects – PALB2, CHEK2, etc. The same tests that we offer to patients in our clinics for thousands of dollars along with the hassles of dealing with insurers and the complexities of scheduling and paying for a genetic counseling appointment can now be had with a spit sample provided from the convenience of your home. No muss, no fuss, never needs ironing – and at the shockingly low cost of $249.

For many patients, the hardest part of genetic testing is actually making it into our offices. It takes a big emotional investment to make an appointment that might involve psychologically sensitive and scary information, several rounds of phone tag with the scheduler, figuring out an appointment time that fits into in busy family/work schedules, determining insurance coverage, and then having to deal with multiple appointments at institutions that require additional visits for a blood draw and for results disclosure. Not uncommonly, my patients’ medical records often indicate that the referring provider had recommended genetic counseling many times over several years. Nobody comes to see us until they are absolutely ready to do make the commitment to do so. The Color Genomics model, by comparison, makes the traditional approach look positively byzantine.

Sure, we want assurances from Color Genomics on technical details of the test such as depth of coverage, ability to detect the widest possible range of mutations,  follow-up on variants, etc. And we might question the success potential  of a business model that offers a test at one tenth or less  than what most competitors are charging. But this is a medically and financially savvy group, and I am willing to bet that they thoroughly addressed these issues before they launched this product. We can probably expect to see similar genetic testing start-ups in other areas of genetic testing.

With an estimated turn-around time of 6-12 weeks, this test is not for cancer patients looking to make a surgical decision in a few weeks. And, interestingly, $249 is more than many of my patients typically pay for BRCA or multigene panels. Because most of my patients – especially those who are being treated for cancer – have already met their deductibles, their out-of-pocket costs for genetic testing are minimal, assuming they meet their insurers’ criteria for coverage for genetic testing. For now, at least, Color Genomics might appeal to patients who have large out-of-pocket expenses, or those who do not want to go through the “hassle” of face-to-face genetic counseling, or lack insurance coverage for genetic testing/counseling, or who do not meet their insurers’ criteria for coverage for genetic testing, or patients whose insurers don’t cover multigene panels. More to the business point, Color Genomics’ mission is Democratizing access to high-quality genetic information, consistent with the recommendations of Dr. Mary-Claire King, one of the company’s advisors, for all women to undergo genetic testing for hereditary cancer risk assessment (me, I am not a big fan of universal screening for anything, but that’s probably just one more area where I am in the decided minority, and I wince at the use of the word “democratizing”). Of course, if insurers get wind of this inexpensive pricing and require samples be sent to low cost labs, then there will be even less of an incentive for patients to go through the traditional genetic counseling/testing model (currently Color Genomics does not bill insurers).

I can hear the protests about the problems that will arise when genetic counselors are not involved face-to-face in pre-test genetic counseling. The wrong relative will be tested, inaccurate interpretations by patients and care providers, increased patient anxiety, inappropriate under- or over-utilization of high risk screening and surgery. But we largely have only ourselves to blame. With a few exceptions and some small case series, the genetic counseling community has done little research to prove that meeting with a genetic counselor prior to genetic testing makes for comparatively better health or psychosocial outcomes. And, at least for now, the early studies on DTC testing have so far concluded that most of our concerns about patient anxiety, inaccurate test interpretation, etc. are mostly unfounded (yes, I know we all have a story to tell that suggests otherwise but for now they are only stories).

But whether we like it or not, one form or another of this new genetic counseling/testing model is probably here to stay. In fact, I will venture the prediction that most genetic testing for cancer and other common conditions will eventually go around rather than through clinic-based genetic counselors. It is convenient for patients, saves money (until we can prove otherwise), and may be every bit as good as we are in educating patients. Private labs, unlike most clinics and hospitals, have the great good sense to invest the resources in developing highly readable websites that include explanations, information, and graphics to help patients better understand their results (personally, I think that lab-provided education can subtly bias the information to make disease risks seem higher and interventions more beneficial, but that is a topic for another day).

So maybe it is time for genetic counselors to again re-invent ourselves. Perhaps the classic model of pre-test counseling is mired in twentieth century ethical and technological paradigms. New employment opportunities and roles for genetic counselors in labs will develop and labs may eventually become the primary employers of genetic counselors. We will have to reconsider how genetic testing is arranged and managed in our clinics. And most critically, we will need to develop an ethical framework for delivering these services. Opportunities for conscious and unconscious conflicts of interest abound in all areas of genetic counseling, but perhaps most conspicuously in laboratory employment. Will we be swallowed by the business community and its emphasis on profits à la Milton Friedman, the influential economist? Will we become consciously or unconsciously less critical of the downsides and limits of genetic testing when profits and salaries depend on testing volumes? What are ethical and unethical behaviors for genetic counselors in these settings? Will psychosocial issues fall by the wayside? Frankly addressing these questions will make us uncomfortable, but no one ever said that genetic counseling would be an easy profession.


Filed under Robert Resta


Once, when out fishing for flounder, my mother caught a shark.

That story arose in my mind yesterday, as I was reading an article published in FastCompany by a science writer working under a pseudonym.  The writer (who calls herself Elizabeth, so let’s go with that) has a five-year-old daughter adopted from Ethiopia.  Her editor suggests that she do a piece 23andMe from the point of view of a mother considering testing her own little girl.  As for the decision about whether or not to test – that was up to her.

But it’s a better story if you do the test, right?  An even better story if you find out something interesting.  Which is not so likely, since the experts you contact are telling you that most of what 23andMe has to offer is not clinically significant.  A few things that are meaningful, a few things you might not want to know… but Anne Wojcicki, founder of 23andMe, says it is a parent’s duty to arm herself with her child’s genetic blueprint.  Ultimately, Elizabeth says, she finds the ‘knowledge is power’ argument persuasive.

So, anyway the kid turns out to be a ApoE 4 homozygote.  23andMe quotes a 55% chance of ApoE 4 homozygotes being diagnosed with Alzheimers between the ages of 65 and 79.

I spoke with Elizabeth while she was writing the article, but before the test results came back.  “Do you judge me for having my daughter tested,” she asked?  I said no at the time – and for the record, I stick with that.  We were talking then about privacy and confidentiality issues, and in that context I have concerns about the DTC industry in general and 23andMe in particular, but I can completely understand the desire of a mother raising her child without access to any medical or family history to get whatever information she can.  We talked about the limitations of SNP data on common disease.  This wasn’t a genetic counseling session, but I am a genetic counselor, and I am extremely regretful that I didn’t think to discuss ApoE, and perhaps urge her not to unlock that box.

Elizabeth spends the last third of the article grappling with the downstream issues that follow from that significant result.  She acknowledges difficult decisions they will face around when and if to tell the child.  “Never!” suggests a psychologist friend of mine with whom I share this story.  But in my experience information finds it’s way out, no matter how deeply buried, as if knowledge were a seed searching for the sun.  And in this case it is only shallowly interred – after all, she has shared her story in print.  The pseudonym makes it more private, but won’t the ruse – and the reason — be an open secret among her close friends and family?

Interesting to me that 23andMe publicized this story, tweeting about it yesterday morning:


I would have thought this particular personal journey represented something of a worst-case scenario for them.  Judging by reactions among my friends (not very scientific, I know) it was not a great advertisement for their product.  But then, I do them a disservice to suggest that they are simply marketers.  No question, the folks at 23andMe are true believers.  Emily Drabant, a neuroscientist at 23andMe, tells Elizabeth that their database will help pharma locate people with her daughter’s geneotype who don’t get sick, so they can uncover the reasons why some people stay healthy despite their genetic predisposition.

Wherever you stand on DTC, it is easy to see Elizabeth’s story as a parable.  For enthusiasts like Wojcicki, it is a tale about embracing the power of information as a call to action and an opportunity for intervention.  For haters, it is a harbinger of exactly the type of harm they picture when they think about DTC: inappropriate testing of minors, lack of pre-test counseling (that one makes my stomach hurt), post-test distress.   For me, having planted my standard awkwardly in the muddy soil of ambivalence, I see it as further evidence that DTC is a decent option only for a select few, and should not be mistaken for a new world order.

Here is the model set forth in this article: mother tests child, discovers disturbing information, goes on a mission to find out what it means and – hopefully – how to use what she has learned to her kid’s advantage.  This makes for a lovely read (it’s actually a very good article: balanced, well-written, funny at times).  But it’s important to note that to the extent something good comes out of this, it is because Elizabeth has access to resources and information beyond the factually accurate but necessarily limited and impersonal explanation on the 23andMe website.  “Our daughter is going to get Alzheimers,” she wails to her husband, after ‘blundering past the notes of caution’ to unlock her results.  Next steps for a science writer doing a feature on 23andMe?  First, a personal conversation with Anne Wojcicki, who cancels her next appointment when she hears about the ApoE finding.  Discussions with Drabant, the neuroscientist.  Discussions with geneticist Ricki Lewis, and with Bob Green up at Harvard, who spearheaded the REVEAL study that investigated the impact of receiving ApoE results on individuals and family members.  A conversation with Jennifer Wagner, a lawyer specializing in issues related to genetics and genetic discrimination.  We cannot hypothesize that this is the experience of the average consumer.  Wojcicki and the legion of science bloggers who can’t understand why everyone doesn’t want to test their children should consider the likely experience of a parent receiving this result with no more resources than Google and a distant memory of high school biology.

Ultimately, we are informed, Elizabeth comes to terms with the good and bad of genetic testing for her child.  “I choose to think of this as a potentially beautiful new world opening up for her–but one that requires an extraordinarily thoughtful bravery from all of us.”  Even so, she notes that the “best advice” she got was to “burn that damn report and never think of it again.”  Despite the positive rhetoric, her enthusiasm for that advice suggests she learned something she would in retrospect choose not to know.  Elizabeth went fishing for flounder, and caught a shark.  At least my mother could throw her fish back.



Filed under Laura Hercher