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