Back again, 23andMe still $hits the bed with their reports

In case you haven't noticed. I dropped off the blog radar for a while. I had some growing to do of the practice and some streamlining. I read Daniel MacArthur's post with great interest this week. It describes clinical utility of 23andMe testing......

The one thing I haven't stopped doing is counselling patients on DTC Genomic reports.

Just yesterday I was consulting a very nice patient. They told me they just had to speak with a doctor because the report indicated that they were at increased risk of stomach and esophageal cancer. They had been up for several nights reading about it. Further, when brought to their PMD, the PMD smiled and didn't offer up any advice.

Well, first let me preface by saying, 23andMe's SNPs which they list 4 huge freaking stars of "CON"fidence for, on Esophageal and Stomach Cancer risk, while BTFW only ranking studies on Han Chinese. And only 2 studies at that.......

This report had this patient seriously concerned. Until of course I took a G-D Damn pedigree and found out they had ZERO, I repeat ZERO Asian ancestry/ethnicity, let alone Han Chinese....

The risk report from 23andSerge listed them as high risk. How in the world did that work?

(BTW, if you don't believe me, just ask and I will send you the time stamped pdfs, with name redacted of course)

You know why that worked? Because the brainchildren at the Google owned company forgot to put an ethnicity/ancestry filter on their reports. Instead they just felt that an asterisk would work just fine.....

Well Guess what 23andMe, you haven't changed at all. Even after the FDA got on your A$$. Your reports still are misleading and are causing undue angst.

Lucky for you, Myself and Dr Lubin are around to pick up after your mess......

Can you see why someone needs to look at and police these reports? This poor patient had serious concerns and when brought to a clinician who couldn't understand the SNP studies could end up with not needed endoscopies which would put the patient at risk. Primarily due to physician malpractice avoidance behavior?

Don't think that hasn't happened? Think Again.

The Sherpa Says: I am back again at it because clearly the millionaires with a penchant for DNA peddling and CPU coding can not get this right......Clearly a #FAIL

How Bad Can a House Investigation be for DTC Genomics?

Ok, so you've been summoned to Congress to testify

It won't be that bad if you know what you are in for. So let's review.

1. A chart listing the conditions, diseases, consumer drug responses, and adverse reactions for which you test;

2. All policy documents, training materials, or written guidance materials regarding genetic counseling and physician consultations, including documents regarding what conditions, diseases, drug responses, or adverse reactions trigger the need for genetic counseling or physician consultation, and documents governing communications with consumers regarding individual genetic testing results;

3. All documents relating to the ability of your genetic testing products to accurately identify consumer risk, including:

a. internal and external communications regarding the accuracy of your testing;

b. documents describing how your analysis of individual test results controls for scientific factors such as age, race, gender, and geographic location;

c. third party communications validating the association between the scientific data your company uses for analyzing test results and the consumer's risk for each condition, disease, drug response, or adverse reaction as identified by the results of an individual test; and

d. documents relating to proficiency testing conducted by your clinical laboratories.

4. All documents regarding your policies for processing and use of individual DNA samples collected from consumers, including:

a. policy documents and protocols regarding collection, storage, and processing of individual DNA samples;

b. policy documents and protocols relating to protection of consumer privacy; and

c. documents regarding collected DNA sample uses other than to provide individual genetic counseling to a consumer, including documents relating to third-party use of collected DNA samples.

5. All documents regarding compliance with the Federal Food, Drug, and Cosmetic Act and

U.S. Food and Drug Administration (FDA) regulations.

And you should have that to them in about 2 weeks.

What could be so harmful?

If you know anything about the history of such investigations, they are mostly a dog and pony show that ends up in one of a few options.

1. Public Pillorying that leads to a slap on the wrist and a consumer base who doesn't trust you anymore (See Toyota)

2. A massive class action lawsuit from some enterprising attorneys who review the publicly available documents that the House requests via Freedom of Information.

3. The Congress forces you to behave like normal society rather than a bunch of radicals trying to take over the world.

4. Some clone company sees all your internal documents via a Freedom of Information Act, copies the good, removes the bad and launches in like 6 months.......

5. Someone goes to jail, perp-walk style.

Since 5 is not realistic, I think we can expect some combination of 1-4 for these companies.

The worst outcome is probably Number One here.

The consumer base already doesn't trust Google/23andSerge

Navigenics already has a distribution network, but if the physicians don't trust the test, they won't order it.

Pathway will have a bump in the road and no retail launch.

Number 2 could hurt too, especially Ms Wojiciki who could get personally named in the suit as well as investors like Dyson.

If I was the lawyer, those are the deep pockets I would be after. Navigenics is owned by P&G now and their corporate counsel will likely shield them.

Pathway has probably the least customers to be exposed to such a lawsuit, unlike 23andSerge's 30k

Number 3 stinks for the "Research Revolution, Che Style" but probably won't hurt Navigenics or Pathway.

Number 4 is a definite reality. I have already heard that scuttlebutt on the street.

So, I ask. Is getting companies to behave responsibly and acknowledge that some of what they are doing is medical testing so bad? Ryan made the move. Very smartly Ms. Phelan. I knew she would.

The Sherpa Says: This certainly is a nice distraction from Tar Balls and Toyota...

A moment of Clarity. Some DTCG is not bad.

Ok,

Here is the G-d's honest truth. Not all SNP/DTCG companies are bad. What do I mean by bad?

Not all SNP/DTCG companies misrepresented that which is not medically useful as medically useful.

I look at Pathway and Counsyl for example. Fast followers looking to say what they do and mean what they say.

Some of these DTCG tests could be clinically relevant and useful. The problem I have, is that there is no point at which I can say, "Hey I just want the clinically relevant stuff!" No ear wax please.

I need that as a clinician. If I want a huge panel of say CYP450 tests, where do I go? there are some labs that do this and charge and arm and a leg. One company, who I used charged the patient thousands of dollars because insurance wouldn't pick it up.

That cannot ever happen again.

With the addition of these tests with some clinical value, there must be a value add of inexpensive and RAPID TAT (Turn Around time)

A classic example is my last post. Provided these tests become validated clinically, in a patient who can't give me her Gail risk information (tough not to, but it could be a real case) I would use that other panel

The same is true for BRCA founder mutations. Provided you won't drop it in some google database that they get served up mastectomy ads, some patients are afraid of needles and that is a barrier.

There are some very good things here. These good things are getting drowned out by some very bad things.

We can work together if you are willing to bend.

Keith Grimaldi said it best on his blog

"The lack of really effective clinical utility and the existence of commercial interests increases the confusion though. It’s hard to sell something that is interesting, “fun”(?), quite expensive, but not actually that useful to the majority right now. Hard to sell means sometimes over the top marketing."

What medicine cannot tolerate is Over the Top Marketing. It leads to inaccurate statements. This is something extremely forbidden in certain states. In fact, some states don't allow advertising to patients at all, or there laws are so strict you couldn't say anything than

"Dr Murphy, accepting new patients, take insurance"

Why is this? It is to prevent false claims and promises. Doctors can't make money back guarantees. They can't make statements which are not based on fact in advertising. A lot of companies in a rush to get out young science and feed the hype cycle for grants and whatever have been all too guilty of this hype.

So when I get a comment from one of my readers who says (paraphrased)

"Hey all this bashing you do on DTCG is making us in the science end of the SNP reseach look bad"

It prompted me to say, hey, I wouldn't have to throw so much cold water on it if it weren't being hyped so much by DTCG.......

So I guess my point is simple.

Hey DTCG, your opportunity is to leverage your amazing platforms to launch medical services, TO and WITH physicians.

Keep the nonmedical exactly that, NONMEDICAL

Keep the Medical EXACTLY that, MEDICAL

People can benefit by knowing their 2D6/2C19/2C9/VKORC1.

But there are some hurdles to be overcome

1. How can I trust your results?

You have started by enlisting or creating CLIA certified labs, that is a good start. Maybe FDA cert would be nice. Not needed, but nice. There currently is only AmpliChip that is FDA approved....Would like others.

2. How can I know your interpretation is correct?

By using board certified molecular pathologists, I can get a comfortable feel for the fact that the results have been vetted by your specialist. This is muy importante!

3. How can I integrate the results into my EMR/PHR/etc.?

This is going to be super important. How can I save these results linked to patient care? Sure, some would pull paper and put it in the chart, others would prefer a pull in and link. You have to think how to do this.

4. What if the interpretation changes?

Will you take responsibility to contact Either the ordering physician or patient when a result changed? This will be important as we learn more about the nature of these genetic changes.

Doctor's rely on these 4 things from most labs that they use. The depend on these services to be provided professionally and accurately.

These 4 things are EXTREMELY hard to do. But NEED to be done if you really want to be a part of the medical community. But even if you don't, I think your customers deserve this sort of validation and service. Don't you?

Take the jump, create a medical arm. Work with us.

The Sherpa Says: This is what is needed. Medicinally used DTCG that is "Allowed" to be of clinical use. A new Terms of Service, just for doctors, with a validation process that is transparent. And a Marketing process which is truthful.