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.
- “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.
- 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.
- 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.
- 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.”
- 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).
- 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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The whole question of carrier testing deserves to be unpacked historically. I’m trying to do a piece of that, and probably Alex Stern at Michigan is tackling it as well. Progressive Era eugenicists were more worried about carriers than homozygotes, because diseases and other undesirable traits could sneak in to the next generation unseen.
Around mid-century, carrier testing began to be a code word. You could talk serious science about identifying carriers, but everyone knew there were eugenic overtones to it. Check out the conclusion to Jim Neel’s keynote lecture to the Am. Soc. Human Genetics in 1949 (Am J Hum Gen 1: 19-36).
The ardent eugenicist Madge Macklin was written up–in about 1940– as being the physician who would “cure disease before it starts” by detecting carriers of genetic disease.
There’s no question that fears of being “taken by surprise” by genetic disease have very strong roots in eugenic programs of human improvement.
As you say, Bob, that doesn’t make Counsyl inherently evil. Still, we should not be blithe about the origins of these ideas.
I include here my comments that were posted on the listserv regarding my personal experience with Counsyl. Their reports answer several of the questions described above including the disease incidence, mutations tested for, and post screening carrier risk. Very thorough.
“I followed this discussion with great interest several weeks ago when we were discussing DTC testing at Counsyl University. I agree that the website is extremely misleading and sketchy with quotes such as “The Universal Genetic Test allows you to prevent needless suffering. If you and your partner take the Universal Genetic Test and test positive, rest assured there are actions you can take to have a healthy baby” and “More than 1000 African American children are born with sickle-cell disease each year. Almost half the thalassemia cases in the US afflict Asian Americans. And the Jewish community is affected by a vastly disproportionate share of genetic disease. We can now end this needless suffering with a single inexpensive test for all ethnic groups.”
However, was extremely intrigued by the sheer vast number of conditions being tested for. Some were extremely rare in which genetic testing is often not sought even for a symptomatic individual because of the low detection rates and some I had never heard of. Never the less, I decided to try this out for myself and wanted to share my experience.
I ordered the kit directly which arrived within just a couple of days. The kit itself was very professional, clean (obvious money spent on marketing and production), but with very little information. It came with detailed instructions and a return mailing envelop for return of the sample. a very nice marketing tool. is just a beautifully marketed as the website”
“But for all its dispassionate presentation of numbers and information, the website subtly manipulates consumers and could play on their fears and guilt.”
Manipulative, really? Maybe. Manipulation typically implies intent, which doesn’t mesh well with the likelihood that Counsyl is “very sincere and dedicated in their desire to help people.” But if it’s really the website doing the manipulating (insufficient instruction in empathy, no doubt) and Counsyl is presumed to be sincere and dedicated, why not write to them directly with your (very reasonable) suggestions for improving the information on their site?
There’s at least a chance that the site would be improved sooner rather than later. Later is probably more likely if the formation of a Committee is a prerequisite to giving feedback.
It seems like the website is already trying to imply that Counsyl is “NSGC Approved.”
“Call us old-fashioned, but we believe in the need to exceed rather than simply meet the ethical standards set forth by society and by medical organizations… we’re compliant with both necessary and optional professional standards, including … the American College of Obstetricians and Gynecologists (ACOG), the National Society of Genetic Counselors (NSGC), the American College of Medical Genetics (ACMG), and the American Society for Reproductive Medicine (ASRM).”
https://www.counsyl.com/learn/reliable/
Hi there — Counsyl person here. We are very friendly and would love to chat in person with any of you if you’re in the Bay Area. Yes, there will be cookies.
If you have a chance, please take a look at this paper, which our scientists put on Nature Precedings in advance of publication:
http://precedings.nature.com/documents/4192/version/1
That’s a paper by Harvard/Stanford/Yale/Counsyl folks describing the technical aspects of the assay.
Aside from the math, there are two important precedents that anchor how we think about things.
1) First and foremost is the Jewish community’s successful effort to prevent Tay Sachs via universal carrier screening.
2) Second is the now-forgotten controversy over the at-home pregnancy test. As you know, most women who take an at-home pregnancy test are healthy and test negative. Those who test positive have experienced a life changing event which requires significant medical followup.
The structure of an at-home carrier test is very similar; most test negative, while those who test positive require significant followup.
This is a really important point and one that we haven’t seen made so far. The debate over what we’re doing — an at-home carrier test — is really one about reproductive freedom. Do you believe that we have a fundamental right to knowledge about our own bodies, with the option (but not the necessity) of consulting a physician or genetic counselor?
Society has already had that debate with the at-home pregnancy test. Everyone knows that Ob/Gyns (like medical geneticists and genetic counselors) mean well. But they have their own opinions and may subtly or not-so-subtly influence a woman’s decision making.
Involving the minimum number of people with the at-home pregnancy test gave women the freedom to make reproductive decisions without social stigma. The exact same thing is true for the at-home carrier test.
Hi Colleen,
I think the opportunity for fast reliable testing is great. however, as a genetic counsellor my biggest concern is the way the website promotes ‘prevention and treatment’ of conditions. While individuals who are carriers may be able to prevent having an affected child through artifical reproduction techniques, these are serious and difficult procedures- just having a genetic test isn’t enough to ‘prevent’ a condition.
I’m also concerned as the option of termination is not mentioned much on the site. I understand that topic is very controversial in the US, however I believe if a client is to be as informed as possible the website should explain they can have prenatal testing and termination of an affected fetus.
The last point I would like to make is that the background rate of birth defects is 3%. I think it’s important that although Conversyl may be able to screen for many rare diseases, parents still need to understand you can never be 100% sure of having a healthy child.
Just some thoughts from Australia.
Bob, I wrote a humongous reply to all your thoughtful comments but it seems to have been swallowed up by the internet…aiyiyiyi. 😦
Do you have it in moderation perhaps?
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