Just some thoughts from Australia.

Do you have it in moderation perhaps?

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.

“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/

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.

“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”

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.