Personally I love the irony of naming it “Plan B”

MSRP 499, but yours for the low, low price of 99 USD.

QVC, here we come!!!!

From the article:

Researchers administered a gene-based predisposition test that incorporates 20 genetic markers associated with smoking-related lung damage and propensity to lung cancer along with clinical factors including age, family history and diagnosis of chronic obstructive pulmonary disease to derive a risk score on a 1 to 12 scale with higher scores correlating with higher risk.

Ok, new score with 20 markers, family history and age and clinical data….sounds reasonable. Has anyone else validated this tool????

Ahem. Crickets…..

“At scores of 6 or more … only 25 percent of otherwise eligible smokers would be screened but over half of lung cancers would potentially be detected, many in a treatable stage,” concluded Young and colleagues, who suggested that increasing the detection rate of lung cancer per number of patients screened could improve the cost-effectiveness of CT screening.

Ok, so did you get the jump? Did you catch it? “Who Suggested”

This guy who designed a genetic panel AND NEVER TESTED IT IN CONJUNCTION WITH CT CHEST SCREENING, is suggesting that using the test could increase the cost effectiveness of CT Screening, without one single solitary IOTA or shred of evidence of this.

This would be the same Dr. Young who found that genetic testing for a smoking cessation program likely doesn’t have cost effectiveness or at best is uncertain.

Last year they were still researching this panel

Yet Respiragene is being held up as a great test!

One word that makes me suspicious is the word “Testamonials”

That word alone reminds me of the time I was bamboozled into going to multi level marketing events for proton pills and the like. You know, they all had lots of “Research” behind them.

Put simply, we do not know if gene screening PRIOR to CT Chest screening for lung cancer does any of the following things

1. Make CT Screening more cost effective

2. Personalizes medicine, targeting radiation to only those who need the test

3. Improves outcomes and detection rates of lung cancer.

That research is not available today. Nor will it be in one year.

My Advice, hold off on this one for now.

The Sherpa Says: Parroting an esteemed researchers OPINION as if it were scientific fact is a great way to get yourself in trouble and an even greater way to confuse the community! But it is the best way to get a test sold.

That’s right,

Amy Harmon is hosting a fantastic course that will be starting November 15th. You better hurry up and register because space is limited and closing on the 14th of November.

What will be covered?

The course will have weekly live online sessions with the instructor as well as self-paced lessons filled with original content covering the weekly topics. All live sessions and course material can be accessed directly within the online course.

Prenatal testing can go into deep detail about an unborn baby’s prospects for the future. How much of this do we want to know? To share?

These questions and more will be addressed. If there is one thing I know. Amy is certainly a fantastic teacher, educator, and discussion leader!

I do miss conversations like those with her!

You too can have that kind of expertise. Register before November 14th!

I am certain you will enjoy this set of topics and have directed many people this way already.

The Sherpa Says: Family history picks up life threatening disease, DTCG tests probably not so much. That being said, what’s the ethical quandry with either? Ask Amy and find out!

Here are the top ten reasons why in its current state, direct to consumer or otherwise, genomic testing for cardiovascular disease risk is dead in the water

1. Family History Risk paints a far better picture and IT IS FREE

2. Reynolds and Framingham risk paint a more accurate picture

3. An independent panel has reviewed 58 variants, 29 genes, and gave the thumbs down.

4. The highest increased risk from any of these tests is 30%, Fam Hx can be as high as 500%

5. Kif6 was just shot down as a useful marker.

6. Clinical Utility has not been evaluated in ANY of these tests.

7. Spit Parties don’t lower cholesterol

8. The FDA is hunting down these type of crazy claims!

9 . Topol’s heart attack gene didn’t pan out, why would these?

10. A recent 23 gene panel failed to make the grade as well.

Let me be crystal clear.

I am glad that the number one reason for ordering a DTCG test was curiosity and not true medical concern in the “early adopters”

But I am concerned that may not be the case for the next wave. I am concerned they will take these genetic tea leaves and use them.

The problem, most of these tests are disproven or will be in the next couple of years.

Loose associations with small increased risks sounds a lot like fortune telling or phrenology. Or hell, even birth order….

Someday we will have good predictive models, 10-15 years from now. But NOT Now! Do you hear that VC country, SV, NYC, Hedgies?

10 year exit strategy. Not 2 not 8. So stop hyping this bull$h!t and go invest in Gold or Commodities or something for the love of god!

The Sherpa Says: Did you hear the one about the research geneticist? He keeps telling his wife how great their sex life WILL BE! Someday we will have this tool, let’s try not to burn out and cynicize the public yet…..HT Francis Collins

I love this sort of handicapping.

You have absolutely brilliant people posing ideas for regulations. I have read a ton. There are those from industry insiders, Ones from industry “Advisors”, Ones from politicians who receive funding from industry, Ones from academic centers that do LDT testing. Ones from bioethicists…

But I have paid attention to the mixed group that includes pragmatist Wylie Burke and Barb Evans

In an article I just read from Science published October 8th. They propose rules for DTCG, but I am certain they also would work for LDT.

What they propose is a “sliding scale of potential harm”

Which is sort of what I had been saying for years, which perhaps is why it rings true.

If this is for earwax type, let it go to market, if it is for medically related decision making, probably needs some regulation.

The proponents for a wild west DTCG (WWDTCG), which BTW includes a “registry” say
“Well, there is no proof of harm or risk”

I say, well, this is not about psychologic risk.

Instead, it is about medically actionable risk.

I say this because recently, Kif6 testing has fallen into question, despite a company promoting these tests to physicians.

The test is marketed as a “Statin response” genetic test.

Can you imagine how many people were started on statins? Well, 250,000 tests had been ordered. Even if 10% were started it would be nearly as many people as DCTG 23andMe have tested.

The real problem here: Pharmacogenomics tests are not something you hide, you ask your doctor to use these results. Unless you are a doctor, you can’t use these results to dose medications…….

That is a real risk. Despite what WWDTCG proponents say.

Another risk, BRCA testing. I cringe at the thought that a doctor would use 23andMe results and only those results to infer carrier status of BRCA 1/2
The same goes for CF carrier status.

These DTCG medical tests aren’t recreational. These companies added these tests because NO ONE wanted to pay hundreds, hell thousands of dollars to find out these risks…..

In a business decision, they fell short of looking at the medical risks.

So yes, a sliding scale of regulation is likely coming. But not because of Wylie, because of the FDA.

It is obvious. Again, medical testing will be regulated as medical. Ear Wax as ear wax. Will LDT be forced to go through pre-market review? Probably not if they can only be ordered by licensed professionals…..

It’s not a form a rent seeking, it is a form of guidance and protection for consumers. That’s why physicians are licensed and malpractice covered.

Yes, yes. Someday everyone will have these genomes done and everyone will be educated enough to know what they mean. And all humans will have medical education and we can replace the oligarchy of physicians and the tyrannical healthcare system once and for all……..

But until that day, we will have to rely on trained professionals who don’t have their retirements tied to their company’s new genetic test……

The Sherpa Says: Handicapping of the FDA by the Sherpa. If it has any medical utility it will be regulated as either Class II or III. If only ordered via physician it will more likely be Class II. If not, will need Class III.

The Sherpa Says: If 2008 was the year of the GWAS, will 2011 be the year of the overturned GWAS?

I have to tell you, at first I couldn’t answer. It was a great question. Do a full third of people have that severe failure?

The recurring comments: “Has the DTCG field run you off of your blog?”

The answer: “Uh No”

Why I have I stopped blogging so much? For multiple reasons.

1. DTCG has been put on the Radar of the FDA and Government. I have nothing more to say about that.
2. Journalists and Genomics aficionados have been correctly pointing out the hype behind some tests. Most notably lately with the ADHD stuff, which BTW should not have been put out there in the press….Maybe, I need to blog more…..
3. My practice and patients have really taken up my time. I am working to apply personalized medicine daily. Because that is what is needed. We need to show the public and the press how it is done on a daily basis.

I will be back soon, to dissect shotty science and poor clinical studies. But for now, our boots are on the ground and we are climbing the mountain….

See you soon!

He called it trivial. I think he is missing the tremendously simple point.

Why is the FDA mad as hell? Medical Claims.

Hell, they even told Mary Carmichael in the interview.

Alberto Gutierrez = AG

“AG: The concern is with everything.”

“AG: The law requires us to clear devices or approve devices BEFORE they go into the marketplace when they make medical claims”

This to me is crystal clear. Make a medical claim. Get regulated.

Which is interesting. Because I would say some of what DTCG did was, infer medical claims without making outright claims- silly games . I happen to think that is a shitty way to sell something. But heck it is a way to create a discussion rather than instant regs…..

“AG: The question with 23andMe has been whether their claims were medical or not. The original claims they were making were very much on the edge.”

“AG: We actually told them that WE(FDA) thought they were medical claims, but it was at least possible you could argue that they were not”

Do you get it? The judge thought they were medical claims, but let the company proceed. Giving it just enough rope to hang itself…….

The question here is clear. What is a medical claim?

Which boils down to: What is medical?

I can tell you what I do as a doctor.

I diagnose, treat, cure, palliate, prevent human suffering and advance human health.

If you are making claims to do any of those things, I would call it medicine.

This is very important to understand and I hope you VC are listening……..

Diagnose, Treat, Cure, Palliate or Prevent human suffering…….and advance human health.

Words matter. Did you notice I didn’t say disease. Because what’s today’s disease may not be tomorrow’s.

And Vice Versa….

Is a priest a doctor? Well, they used to be.

Is a counselor practicing medicine, well, I would say yes, they are in the healthcare arena

Yes, it is now sinking in. That huge pit in your gut. The millions invested trying to game the system that is millenia old……..

It will not work. DTCG has just proven that. And, do you think the vitamin industry has a chance over the next decade?

No.

I will begin the deep dive into the FDA comments shortly. But rest assured, I just gave you some insight into what medical really means……

The Sherpa Says: There Daniel, there you have it. I have told you what medicine is. Now if you wish to argue against that go ahead bub…….

The study: Women, 10306 with breast cancer mean age of Dx 58, 10393 sans breast cancer.

Outcomes:
1. Highest OR is 1.3 to predict Estrogen Receptor (ER) Positive vs ER negative with rs2981582 and 1.24 for rs3803662
2. The rest of the results were so suspect that the authors didn’t include them in the abstract

“Certain Established risk factors for breast cancer have similar or even greater effects on breast cancer incidence that the differences seen here” -The Authors about this study’s predictive model.

Bottom line: What good is a predictive SNP analysis of ER+ vs ER- if you can do that with pathology most of the time?

“Indeed or estimate of…..in the top fifth for polygenic risk score is similar to that for women in developed countries with one first degree relative with breast cancer” -The Authors about the less than useful polygenic risk model they created when compared to family history

Heck even the authors admit, this stuff is great……For studying pathogenesis, but NOT FOR CLINICAL USE TO GUIDE PREVENTION PROGRAMS!!!

The Sherpa Says: Again, “You would be in the high risk of pretty much getting it”………Not a good way to do medicine or guide consumers guys…..