Tag Archives: Counsyl

by | March 22, 2010 · 7:58 PM

Counsyl Poll: The Results are in!

A few weeks ago we implemented a poll to go along with Bob and Laura’s posts on the new “universal genetic test” being offered by the company Counsyl.

We asked readers to vote on three different statements or present their own statement about the service. We had a total of 68 votes. Here is what we found:

  • The most common response: 44% of readers believe that the test should only be offered through a medical professional
  • Many respondents believe that the test is a “big step forward for couples considering pregnancy” (35%)
  • 12% of respondents feel that the test is “dangerously oversold“

A small subset of readers chose to add their own response (6 total):

  • Three of these readers believe the test is a good resource, but took issue with the marketing of the product, calling it “alarming” and “inappropriate”
  • Another respondent believes this test “represents the future of genetic testing“
  • Two respondents were particularly concerned about the detection rates quoted by the website

It is important to keep in mind that this poll was simply a fun exercise. We did not restrict the number of times a reader could vote and did not perform any statistical analysis of the results.

In any case, I am not particularly surprised by the outcome. Generally, readers of the DNA Exchange (a.k.a. genetic counsellors) believe that this info should be given in the context of genetic counselling by a medical professional. Makes sense.

I voted for the “big step forward” answer. Personally, I don’t have a problem with this particular test being ordered directly by the consumer. But, I do believe that a medical professional should be available for consultation if the consumer is seeking it. And to their credit, Counsyl has several avenues on their site for a consumer to consult a genetic counselor either pre- or post- testing. It is interesting to think about how I might have voted differently a year or two ago.

Care to share your answer here?

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by | February 2, 2010 · 9:57 AM

“Just Say No” Doesn’t Work in Genetics Either

As Bob Resta’s post here on the DNA Exchange ably illustrates, genetic counselors have lots of reasons to take an interest in the Counsyl Universal Genetic Test.  Is it being oversold?  Probably – here are a couple of reasons why Universal is not universal:

  1. The company cites a high accuracy rate for detection of mutations – but of course they only mean the detection of mutations on the panel, which means it gets many but not all – this distinction would likely be lost on the average consumer.  And in the same vein, accuracy does not measure how many of these very rare mutations may be non-penetrant or benign.  It is hard to tell how often we will be suggesting unnecessary intervention, including extreme measures like PGD.
  2. People might understandably assume that “universal” means ALL diseases, rather than  a subset of rare diseases with a recessive etiology.  The specifics are there in the fine print but I’m just saying…

I imagine many counselors are leery of the Counsyl test because they suspect the people for whom expectations exceed performance will land in their laps, angry and frustrated.  This must be something akin to how the sanitation department feels about tickertape parades.

Then again, the Counsyl test has a lot to like:

  1. Great value.  The test offers information on 100 diseases for the same cost as we often see for information on one or two diseases.
  2. Accessibility.  A DTC test enables people who live far from any purveyors of genetic services.  Sometimes the question is not is this the best way? but is this better than nothing?
  3. Focus on rare diseases.  These are the orphan diseases – the ones that can’t get any attention unless Susan Sarandon or Harrison Ford make a movie.  This test may expand our ability to reduce the number of families who have tragic outcomes.  The Times cites critics as saying this is a step toward designer babies but if this is some exercise in vanity than so is EVERYTHING WE DO.  Seriously.

Saving babies, cost, accuracy, uncertainty – these are issues we have seen before, balances to be struck.  In fact, we make these decisions all the time.  What is really new about the Counsyl test is not the questions we must answer but the fact that no one is asking – it is not up to us!  Although genetic counselors have always prided themselves on allowing patients to make decisions, they have always been in control of the flow of information – of how much information was necessary to make a responsible decision.  Of what information was extraneous, and what information potentially dangerous.

Naturally our response to innovations like the Counsyl test is to debate whether or not the information in it is more likely to help or to harm our patients – just what I was doing when I made my list above.  It’s not a bad thing do, and I welcome comments on my Reader’s Digest version of the pros and cons, because counselors out there have a lot to add on that debate.

But we can’t universally confine our response to trying to weigh in on whether or not it is a good idea to allow the information to get out there unimpeded.  Why?  For one thing, it is a waste of time.  Trying to impede the flow of information in the 21st Century is a pastime for Luddites.  Harping on it will make us about as relevant as Amish fashion critics.  Sure – everyone does look good in black, but people are going to be wearing fuschia and even mauve.  It’s a fact of life.  I like clothes with zippers.  There are those moments when button-fly jeans are just too slow.  You know what I’m talking about.

Plus, reflexively, we should be for and not against the free flow of information.  This is America – land of the free, not land of the carefully vetted.  The nature of information is that it is confusing as well as enabling, and an excess of it does not diminish the importance of expertise – it creates an opportunity for expertise.  Let people get information and they will come looking for clarity.  Liz Kearney, the new president of the NSGC, has written persuasively about the need to establish an NSGC “brand.” She’s right.  We need a brand, and we need our brand to stand for credibility, clarity and unbiased scientific accuracy – something that will stand apart from all the information, accurate and otherwise, that comes from people who have something to sell, like the Counsyl Universal Genetic Test.

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by | February 1, 2010 · 10:25 PM

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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