1. Genetic Medicine

Category Archives: Genetic Medicine

GateKeeper? F! U!

Posted on by

Dan Vorhaus recently had a great post about the FDA coming in to carpet bomb DTC now OTCGenomics.

But what I am pissed off about is everyone using the term gatekeeper connoting a doctor required to do something.

What the FCUK do you think I am? A gatekeeper is a lot like a door man.

I don't get your bags.

I don't just open the door for you.

I am not profiting from the test that is ordered.

I am saving your f'ing life.

Stop calling me GateKeeper and call me what I am.

Doctor. Sworn to save your life.

Personal Genomes in Clinical Care. Quake paper Falls Short!

Posted on by

With all due respect to the scientists involved in analyzing Stephen Quake's genome in clinical context.

You did a major league $h!tty job.

No offense.

I can only assume this based on what you reported in the lancet paper.

Start by asking yourself.

"Is Stephen healthier because of what that genome and clinical assessment added to his care?"

I am speaking precisely on this topic at the Consumer Genomics Conference on June 3rd at 830 AM. So I will hold off on all my arguments....But,

The Paper even says

"We noted that most of the sequence information is difficult to interpret, and discussed error rates"

Ummm, ok. Nice counseling session.

"patients with whole genome sequence data need information about more diseases with a wide clinical range"

Perhaps that person could actually be a physician, maybe a generalist?

"For this we offered extended access to clinical geneticists, genetic counsellors and clinical lab directors"

Nice! Joubert's is not Gilbert's is not Plavix. Thanks for stopping by.

I did appreciate that your paper calculated pretest probabilities. Unfortunately these were based on a pedigree which had no ethnicity and incomplete clinical data.

1. No Glycohemoglobin to evaluate for diabetes risk or maybe even diagnose it
2. No Iron Studies to evaluate for Hemochromatosis, yet you state genes may set him up for it.
3. No documentation of a physical exam including DRE for prostate hypertrophy/cancer or PSA
4. No dietary history? No Smoking history? No social history?

Shall I go on?

You show increased risk for Diabetes post test as well as prostate cancer, obesity, CAD, MI, Asthma, NHL, RA (no ESR/CRP/CCP?)

You projected an increased risk for 7 and decreased for 8. Yet no Assessment of MCI etc in Alzhemiers disease? My god, you did a stress test in an asymptomatic patient who exercises daily.

"Although the methods we used are nascent, the results provide proof of principle that clinically meaningful information can be derived about disease and response to drugs in patients with whole genome sequence data"

Translated: We made up a system and used novel DNA results to hypothesize about disease risk using research fellows, computer programs an excellent cardiologist (Not a GP) and an Echo machine.......But we skimped on the physical exam, use of primary care doctors, complete blood counts and other clinically useful testing and procedures.

I admire your efforts, but

A. You have missed the boat in using not all the tools at hand
B. By being Genome-centric, we miss the clinical picture.

"Although no methods exist for statistical integration of such conditionally dependent risks, interpretation in the context of the causal circuit diagram allows assessment of the combined effect of environmental and genetic risk for EVERY individual"

Translation: Nothing exists statistically to evaluate disease interaction and how it may increase risks of interlinked disease.

Ask yourself, "What have we done to make Stephen Quake healthier from this test?". Other than hype the use of a genome clinically?

This paper was all genome and NO CLINICAL ASSESSMENT!

The Sherpa Says: The only thing of note that is important here is the CYP2C19 data.......
I have seen abnormal CGH data in a child with severe developmental delay come directly from a high functioning mother who was a power litigator. The genome scan as it stands now is noise. It also requires a full team a month to intepret. Clearly not ready for medical prevention or prognostication, sorry.

Last post edited by Drew

Posted on by

"Clinical Assessment Incorporating A Personal Genome"

The clinical assessment was incomplete.

It was missing the following items

1. A Physical Exam
2. A Complete Pedigree with ethnicity
3. Appropriate Clinical Laboratory testing
4. A Full Social History

Grade?

D minus.

Adjusted for curve a good solid B minus


But ultimately, this novel approach is clinically unfeasible.

Why?

The manpower alone required to perform this "clinical" analysis is unsustainable for 300 Million people.

GateKeeper? FCUK U!

Posted on by

Dan Vorhaus recently had a great post about the FDA coming in to carpet bomb DTC now OTCGenomics.

But what I am pissed off about is everyone using the term gatekeeper connoting a doctor required to do something.

What the FCUK do you think I am? A gatekeeper is a lot like a door man.

I don't get your bags.

I don't just open the door for you.

I am not profiting from the test that is ordered.

I am saving your fcuking life.

Stop calling me GateKeeper and call me what I am.

Doctor. Sworn to save your life.

Personal Genomes in Clinical Care. Quake paper is a waste!

Posted on by

With all due respect to the scientists involved in analyzing Stephen Quake's genome in clinical context.

You did a major league $h!tty job.

No offense.

I can only assume this based on what you reported in the lancet paper.

Start by asking yourself.

"Is Stephen healthier because of what that genome and clinical assessment added to his care?"

I am speaking precisely on this topic at the Consumer Genomics Conference on June 3rd at 830 AM. So I will hold off on all my arguments....But,

The Paper even says

"We noted that most of the sequence information is difficult to interpret, and discussed error rates"

Ummm, ok. Nice counseling session.

"patients with whole genome sequence data need information about more diseases with a wide clinical range"

Perhaps that person could actually be a physician, maybe a generalist?

"For this we offered extended access to clinical geneticists, genetic counsellors and clinical lab directors"

Nice! Joubert's is not Gilbert's is not Plavix. Thanks for stopping by.

I did appreciate that your paper calculated pretest probabilities. Unfortunately these were based on a pedigree which had no ethnicity and incomplete clinical data.

1. No Glycohemoglobin to evaluate for diabetes risk or maybe even diagnose it
2. No Iron Studies to evaluate for Hemochromatosis, yet you state genes may set him up for it.
3. No documentation of a physical exam including DRE for prostate hypertrophy/cancer or PSA
4. No dietary history? No Smoking history? No social history?

Shall I go on?

You show increased risk for Diabetes post test as well as prostate cancer, obesity, CAD, MI, Asthma, NHL, RA (no ESR/CRP/CCP?)

You projected an increased risk for 7 and decreased for 8. Yet no Assessment of MCI etc in Alzhemiers disease? My god, you did a stress test in an asymptomatic patient who exercises daily.

"Although the methods we used are nascent, the results provide proof of principle that clinically meaningful information can be derived about disease and response to drugs in patients with whole genome sequence data"

Translated: We made up a system and used novel DNA results to hypothesize about disease risk using research fellows, computer programs an excellent cardiologist (Not a GP) and an Echo machine.......But we skimped on the physical exam, use of primary care doctors, complete blood counts and other clinically useful testing and procedures.

I admire your efforts, but

A. You have missed the boat in using not all the tools at hand
B. By being Genome-centric, we miss the clinical picture.

"Although no methods exist for statistical integration of such conditionally dependent risks, interpretation in the context of the causal circuit diagram allows assessment of the combined effect of environmental and genetic risk for EVERY individual"

Translation: Nothing exists statistically to evaluate disease interaction and how it may increase risks of interlinked disease.

Ask yourself, "What have we done to make Stephen Quake healthier from this test?". Other than hype the use of a genome clinically?

This paper was all genome and NO CLINICAL ASSESSMENT!

The Sherpa Says: The only thing of note that is important here is the CYP2C19 data.......
I have seen abnormal CGH data in a child with severe developmental delay come directly from a high functioning mother who was a power litigator. The genome scan as it stands now is noise. It also requires a full team a month to intepret. Clearly not ready for medical prevention or prognostication, sorry.

Coriell Personalized Medicine Collaborative rising

Posted on by

This evening I want to write about something amazing I recently was able to participate in. It was the first meeting of the Pharmacogenomics Advisory Group. This group, chaired by Issam Zineh is pretty amazing. Let me tell you why.

1. Members of PAG have been involved in pharmacogenomic studies involving most if not all current markers
2. They include members/contributors of PharmGKB, FDA, AAPS award winners, Howard MacLeod, I could go on and on.....and one lowly blogger and clinical personalized medicine specialist.....
3. The group was willing to engage in active criticism of each other and of ideas. That is the key to a great advisory group.

While we see the dropping costs of genotyping going further and further with some quoting a 10k genome by June's end, it is becoming crystal clear that the test is not the product. The test is a razor handle. Seriously. It will be given away free. But the question is, what will we do with it.

Coriell is aiming to answer some of these questions and is engaging in ethical research. Coriell is the cohort study that we will turn as we turn to Framingham. When the next decade closes we will sit back and laugh at how all of the VCs dumped money into supposed 1000 gene tests that gave nearly useless results or results that couldn't be used for what they needed to be used for by Terms of Service......

At the same time, we will see how a sleepy little institution in Camden NJ, known for holding cells became a powerhouse in the Personalized Medicine Movement by holding patient lives and medical data......with a little help from their friends........

The Sherpa Says: If you haven't joined the CPMC, you should. They are climbing the mountain skillfully

2C19, Navigenics and Clinical Reality.

Posted on by

Ok,

I would like to welcome Navigenics to the world of Clinical Utility. Just yesterday they announced their pharmacogenomics panel available to both consumers and physicians. It is about time!

However, the problem I see is threefold:

1. Where is the price of the test? Anything more than 200 won't work.

2. Is there a change in the terms of service, which allows me as the doctor to use it?

3. Will insurance pay for it?

Let's say that this is not intended for the doctor but instead just for the patient/consumer. Which Navigenics has agreed NOT To Do, At least in NY.
What exactly do you expect the consumer to do with this information?? Stop Plavix? Don't you Dare!

Write themselves a prescription? Ummmmm, OK.

Oh No, these tests are specifically for medical use.

Disagree? Merely the information itself is important? What good is information without ability to act on it? maybe you should ask Cassandra?

There are multiple companies out there offering PGX testing in one form or another. This makes the following questions of utmost importance

1. Which SNPs are tested?
2. Can you really trust a genetic counselor to give you advice on medications? How many have they prescribed? No offense, just reality.
3. Will the laboratory results and work in a clinical setting, integrated with clinical care?

Just because you're a great product backed by venture capital, with with analytical validity and the plan to get to market doesn't mean you will succeed in the market. Why? Most consumers still trust genetic testing decisions to be made by the doctors.

How do I know this? I'm the doctor. I am licensed to give clinical advice.

The Sherpa says: Why these DTC companies try to cut out the doctor is beyond me.

99 USD, DNA day and patient letters

Posted on by


Yes,



Today started with my twitter feed notifying me that 23andMe had dropped their prices to 99 USD today. Which almost had me encouraging people to get testing, until I remembered that 23andSerge would then have your DNA..........FOREVER!

Then I opened my email and read this great note

"Dear Dr. Murphy,
Thank you so very much. I am so lucky to have found your team. Who would have thought my Plavix might not be working for me? Only when you told me about how it could not work did I realize that I might be taking something that is worthless. Thanks for testing me. Now that I am on Effient I feel much safer!

Thank you Dr. Murphy,
You saved my life!"

That's right. A genetic test, may have saved this patient from a heart attack. A genetic test I do regularly. Who has this patient's test result? Not some corporation that will use it for profit. No, just me, who will use it to act medically. While as these other services say explicitly, YOU CANNOT USE IT FOR MEDICINE!!

To be certain, you should not stop your Plavix WITHOUT talking to your doctor first!

Shame on them, their test could save a life. But not according to their TOS.

I will be speaking at the Consumer Genetic Show about precisely this problem and others. I was so surprised that they asked me to speak. Especially after the beating I gave it last year.

But on this DNA Day I am here to tell you, the public is aware now. DNA testing does hold promise, but only when in the right hands.........

The Sherpa Says: Pharmacogenomic testing IS MEDICINE. It is NOT FOR $H!T$ AND GIGGLES! Happy DNA Day!

The Rumors of My Death……..

Posted on by


You know how the rest of the story goes.


Frankly, I have been running flat out for the last 6 months. I have been working with some amazing computer scientists, lab specialists, geneticists and physicians putting together some "side projects" while seeing patients on a daily basis for "Personalized Medicine"

The practice is busting at the seams and we are pretty excited about the next few phases of growth.

I want to share with you some news.

1. Yes we have iPads and are using them for rounds, patient registration and education. Soon we will have our own private apps too.

2. Out of the bundles of CYP 2C19 patients we have been testing we have changed more patients to Effient than I can count. Saving lives along the way.....

3. Yes, the rumors are true, I will be speaking at The Consumer Genetics Conference in June! Along with pound for pound the best MD CEO around Brandon Colby, who must be coming out of stealth!

I will post more soon, but rest assured, I have a huge team climbing the mountain with me.

What did I do? Well, I didn't get them drunk at open bars. Nor did I woo them with money.

I did the heavy lifting that it takes to put "Theory" into practice. If you want to see how, stop by
Greenwich or Stamford.......or better yet, make an appointment 9hh@hhdocs.com

The Sherpa Says: Stay tuned

Sherpa Accepting Chief Medical Officership

Posted on by


Now that it has been announced in China. I am proud to say I will be accepting the Chief Medical Officership for Baidu's new Whole Genome Sequencing service called XY or Die.

This is an exciting time for this field and I have to tell you, despite my displeasure with some shady DTCG marketing practices, I feel Baidu's strategy of feeding ads based on genome information could prove to "empower" patients helping them purchase just the right set of herbs and melamine laced baby formula to ensure the best outcomes for the patient and their potential offspring's IQ.

Yes, it is true. I have often been critical of these obscene flagrant violations of United States Law, but in the Far East, there are no laws here.

So, when they come at you with a few million, why not take the money and run?

Sorry, I meant, how dare those repressive capitalist pigs stifle innovation and patient empowerment?

Further, their movement to resemble medical technology and with a wink wink and nod nod insinuate that they are doing medicine, without the doctors. Really, who does need those over paid, money grubbing arrogant assholes anyways? They often end up just looking to churn you for money.....

The Sherpa Says: April Fools, Get a grip!

End of Gene Patents?

Posted on by

With the NY district court ruling in ACLU et.al. v USPTO/MYGN it appears clear that the bar for gene patents is super high and most will likely not reach it. Does this mean the end of gene patents or even just the BRCA1/2 patents?

No, but it is the beginning of slipshod sequencing and a whole host of labs testing for BRCA1/2 sequences. It is also the making of a SCOTUS case.

But here's why I think Myriad STILL is the gold standard.

A. They have the experience doing this testing
B. They have the infrastructure to handle national samples
C. They have the ability to analyze rare variants best. Why? They have the samples.....

That being said, could Quest or LabCorp begin BRCA testing? Yes and they would do a hell of a job.

One thing is for certain, Myriad will have a hard time justifying that 3120 USD price tag.

If you have MYGN maybe a short is in store?

The Sherpa Says: Myriad is how a genetics lab should be run, except for the outrageous price.

PGx in DTCG? Doesn’t stand up to Useful testing.

Posted on by


HT Don Rule today as well as the ENTIRE Pharmacogenomics Advisory Group that I am a proud member of.


Don wrote this comment a few days ago

"I was curious about what SNPs the DTC companies offer so I wrote a little applet (http://snpweb.cloudapp.net/#/PharmGKBSNPs) to compare them to the SNPs in PharmGKB. It turns out the the Cytochromes are particularly sparse."

Well Don, you are correct. Even more so, as we began to review SNP data it became crystal clear on Monday.

The reason I was pissed about 23andMe doing the CF testing is because they missed hundreds of potential carrier alleles. What was even more so angering when I realized, you could be "tested" by one of these DTCG companies for "Plavix Metabolism" and come up with the absolute wrong answer.

Imagine that. Most people turn to DNA for an "absolute call" but when you don't look for the right SNPs or all of the needed SNPs, you miss a whole bunch.

Quick story. I had this pulmonologist physician, an elder statesman, super smart, Ivy league trained come up to me and say "Hey Steve, can you help me out?"

He is a sleep doctor too. He said "I have been trying to test for this narcolepsy gene and I can't get the right answer"

I said "Sure Dr. X, what do you mean 'keep getting the wrong answer'?"

He Said

"Well I am looking for HLA DQB1 and they keep telling me about this HLA DR, I have sent this test 3 times now and still gotten no information about HLA DQB1."

I did a big 'ol face palm.



Instead it searched for an imperfect haplotype......

That's the problem. If you don't test for exactly what you are looking for, you will never find it. Nor will you have the correct clinical answer.

If you only test 2 SNPs for CYP 2C19, you will never be able to accurately predict what someone's metabolizer status is.

What people should be using to assess metabolizer status of medications is something like the DMET Plus with additional PCR or another platform. AmpliChip does a nice job, but we have to be serious when it comes to medical care.

You Cannot, I repeat Cannot take the advice from 23andMe when it comes to metabolizer status for Plavix.

Please, please, please listen to me. Even 23andMe states it on their post about Plavix

This DTCG test is not ready to be used in the clinic or even trusted to tell your metabolizer status. Right now, they are not testing enough SNPs for me to be happy with it and use it in the office.

Don't stop your Plavix! Instead go get a clinical pharmacogenomic test done by someone who understands the limitations of the labs.

That drunk who lost their keys is still looking under the lamposts because that is where the light is..........

That is a stupid way to do clinical pharmacogenomics.

The Sherpa Says: Pretending to be clinical without standing up to clinical rigor is a recipe for disaster. I await the lawsuit from in stent thrombosis for the poor sap that trusts 23andMe enough to stop their Plavix.

Why did P&G invest in Navigenics?

Posted on by

I kept beating myself up, trying to figure out why the largest food/products company in the world put money in Navigenics. Was it for nutrigenomics? Was it for the captive audience to market products to?


Until today, when I read in American Medical news that Proctor and Gamble BOUGHT MDVIP in December of last year! Man how did I miss that one?

"Terms of P&G’s acquisition were not disclosed. It was made by P&G’s FutureWorks unit, a new-business generator that’s intended to connect the company with external partners and expand P&G’s scope beyond its core businesses into new channels."

So, P&G is looking for the whole enchilada in personalized medicine here.

Too bad, Navigenics' tests are currently not useful. But maybe someday they will be......

The Sherpa Says: Navigenics is not the target. MDVIP was, so don't believe anyone who tells you otherwise...

SNPs for breast cancer risk? It Depends.

Posted on by

I hold in my hot little hands a copy of the NEJM, March 18th edition. In it there is an article which isn't even released yet.


Entitled
"Performance of Common Genetic Variants in Breast-Cancer Risk Models"

Remember when we did this for heart disease risk? FAIL WHALE.....

Do you think it will happen again?

The Study

10 common genetic variants


I had to create a couple of pages on SNPedia for this list FYI.....

The Methods:
Cases and controls-WHI, ACS CPSII Nutrition Cohort, Nurses Health Study, Prostate/Lung/Colorectal/Ovarian Cancer Screening Trial, and Polish Breast Cancer Study.

Cases-Woman who had received diagnosis of invasive breast cancer.

Risk Models Used-A hybrid of the Gail model.....I.E. Not exactly the Gail Model.
1. First degree relatives with breast cancer
2. Age at Menarche
3. Age at first live birth
4. Number of Breast Biopsies

They acknowledge that they were unable to get atypical hyperplasia and Mammographic density. Both of which have improved Gail.

So, This Gail is a little hobbled and not the best predictive model.......

The studied models- 5 logistic regression models
I don't have the supplementary tables and methods yet.

The nongenetic model-Gail Model
The Demographic/Genetic Variant Count Model-included number of alleles.
The Demographic/Genetic Individual Variant-Accounted for individual effects of each SNP
The Inclusive Model-Gail, Genetics Demographics
The Demographic Model
And Random....

When we do these sorts of statistical analyses we look for a couple of things.

A. Number of people reclassified and how?
B. The Area Under the ROC Curve


Results-

1. The Inclusive Model Yielded and AUC of 61.8%
2. The Nongenetic Model yielded an AUC of 58%
3. The Genetic Individual Variant Yielded an AUC of 59.7%
4. The Genetic Variant Count Yielded an AUC of 58.8%
5. Breast Biopsy BY ITSELF Yielded an AUC of 56.2%

That is a 3.8% difference in Yield from Genes and without Genes integrated into the weaker Gail Model.

Lastly, they asked. Well, does this Inclusive Model do a good job of discrimination of High risk vs. low risk.

The Answer- It determines lower risk better than Gail. It does not determine higher risk better.

The authors of this study have stated that

"As in Diabetes and cardiovascular disease, the addition of the common SNPs added little to the predictive value of the clinical models. On the basis of theoretical models, Gail has shown that increases in the AUC similar to those observed here and not sufficiently large to improve meaningfully the identification of women who might benefit from tamoxifen prophylaxis or screening mammography"

Take Home

The addition of these factors only creates a minimal statistical increase that is of no useful clinical benefit.

The Sherpa Says: If the press says "gene tests fail to improve risk assessment" You can be assured that the DTCG industry is no longer the darlings. If instead they say "Improvement in risk model" well, then you have chance to woo them back! It Depends.......

How can MDVIP use Navigenics Test for Medicine?

Posted on by

I have been harping on this say what you mean. Say what you do. Theme lately.


I am a board certified doctor who practices personalized medicine. I see patients and apply the principles or pharmacogenomics, risk prediction and prevention tailored to each individual patient. I do this by taking a 3 generation pedigree, using current clinical risk models and pharmacogenomic or other genetic tests when indicated. That's me.

I have this nagging pain about MDVIP, Ed Goldman and Navigenics.

Some MDVIP members are using Navigenics tests for medical risk prediction. Navigenics is ok with this because hey, they're doctors.


The contents of our Site, including any risk estimates or other reports generated by the Services (collectively, "Your Report") and any other information, data, analyses, editorial content, images, audio and video clips, hyperlinks and references (collectively, "Content"), are for informational purposes only and are not intended to substitute for professional medical advice, diagnosis, or treatment.

The part I want to focus on is "Are for informational purposes only and are not intended to substitute for professional medical advice, diagnosis or treatment"

It seems to me that this will be the more popular language in a Terms of Service for DTCG.
Notice that nowhere does it say, "This report is not intended to diagnose or treat"

I think that while it is nice to not say that, when in fact people are using it to diagnose, it is even goofier to say that it is not intended to substitute for a professional's diagnosis. Ok, so are you saying

1. This is not to be used for diagnosis/medical advice
2. This is to be used for diagnosis, but the professional's diagnosis trumps ours
3. This test is meant to be used by professionals to aid them in diagnosis and treatment

I am really confused here. Is this a medical test or not. Just come right out and say it!

The Sherpa Says: Say what you do, do what you say you do. Isn't that what the Common Framework of Principles is About?

A moment of Clarity. Some DTCG is not bad.

Posted on by


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.


"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.

The Argument Against DTC Genomics Marketing and such

Posted on by

Keith Grimaldi and Daniel MacArthur and Andrew Yates and I have a little bit of confusion. I think we are arguing over 2 different points.

First, Keith, Daniel and Drew need to go read a paper I authored entitled

"In Need of a Reality Check" published in the May 2009 Nature Biotech Journal.

I think many people have misunderstood our messages. So to be simple.

A. Keep the Medical, Well, Medical.

1. Medical Genetic tests that are to be used clinically should have clinical input
2. Medical Genetic tests should be regulated according to the laws of each state/country
3. DTC Genomic tests come in several flavors. The DTCG Medical tests should be Medical.

I have been championing this one for a LONG time. The arguments for this are pretty clear

1. Without clinical input, selling medical tests without an understanding of their use on a FIRST HAND basis is a bad business plan. Also, the risks of a non physician over marketing these tests as to be used for too many things or used before the science pans out could harm the consumer. Think OvaSure......

How? Via false advice and guidance, delivered not by a physician, but by a website.
Who takes accountability and liability for this? The answer no one. Thus, the chain of trust is broken and the patient is left no recourse.
2. Medical Genetic Tests should be regulated by the laws of the country/state/province of use.

Why? Well, if we don't agree to follow laws, we are lawless. How does being lawless benefit the consumer/patient? How does it build trust? It doesn't, thus, EVEN IF the laws are "stupid and outdated" those who break the law, break the trust required for such special testing and care.

3. Medicinally used genetic tests, whether DTCG or not, should be represented and treated as Medical Tests.

Why? This goes back again to quality control and tests. This also goes back to trust. If a patient is encouraged to use a medicinally used genetic test, they should have the confidence that it meets medical quality and that the lab follows that are required for medical tests.

Am I wrong? I challenge someone to give me 3 good reasons why these rules should not be followed. And they cannot use "We are slowing innovation" "It is inevitable" or "You are rent seeking doctors" Why? these are stupid arguments that you will need to prove beyond a shadow of a doubt. Why? When patient safety and trust is one the line, you better be DAMN sure of your stance.

B. The marketing of these current DTCG tests in not keeping medicinally used tests in the medical realm. They should immediately correct this course.

1. Marketing message confusion leads people to equate nonmedical tests as medical. This results in the customer/patient. relying on non-standard of care tests.

I use here the example of Dane Jasper an SV entrepreneur who said he could save "25 bucks" buy relying on 23andMe's CF test instead of going to a trained professional to have testing done.

2. Simply stating your tests are "nonmedical" does not make them "nonmedical" especially if they have a long history of being used medically.

May I skip getting licensed in a state if I say I do "nonmedical" medicine? May I give you coumadin "OTC" if it is to not be used to diagnose or treat a condition? No, I may not. Can someone OTHER than a pharmacist/doctor get access to medications? Not in the US.

They do this to avoid charlatanism and people putting other people at risk. In this case, the risk is a "nonmedical" diagnosis of CF carrier state, or a "nonmedical" misdiagnosis of no CF carrier state.

3. Marketing "NonMedical" Medical tests as cool and hip

A. Turns off doctors from using useful tools
B. Makes the valued noble profession of medicine appear, trivial, akin to Paris Hilton.

Please stop this now.

The Sherpa Says: This is too long to have in a post. I am drafting a paper on this subject now. But you first should read "In Need of A reality Check" in Nature Biotech.

BRCA testing by 23andME is the same as Myriad Genetics.

Posted on by

February 2009 23andMe entered into clinical medical testing of DNA variants which are the exact same variants Myriad Genetics tests for. There is only ONE use for this test. That is a clinical use. When these results are obtained clinical counseling is the standard of care for delivery of these results. Not a flashy webportal......

Minimizing the seriousness of a medical test looked just as awkward by us in the first video as it should be by showing it on a blimp or at a cocktail party or highway billboard sign.....All things that Linda Avey and Anne Woj decided to have their company do....

The Sherpa Says: Misha is correct, Medical Geneticists painted themselves into a corner by harboring in the rare disease port. This allowed people who have no G-dDamn business in medicine, to play doctor at parties and on the internet!

The problem with Comparative Whole Genomics……

Posted on by


I have been having this debate with a good friend and mentor.


I think Complete Genome Comparison could be a Killer App.

He thinks it could be a legal and scientific nightmare.

I think he's right.

Let's really think about this for a second. If history has anything to say about human behavior we need look no further than the secrecy with which gene sequences were hunted.

Hell, even Science makes mention of it several times. The Article "Data Hoarding Blocks Progress in Genetics" might be a good read if you are interested.

Guys like Daniel MacArthur over at Genetic future point out some good points about the difficulty in making sense of all the noise that exists in genomes. But the problems go even further than that. Hell, CNV can differ in IDENTICAL TWINS!!!! Say Wha?

So what do we have to say about this? Phenotype and comparison are kings. Databases of "normals" and disease afflicted need to be developed. They need to be curated, they need to be "shared"

Ahem, excuse me? Did you say "shared?"

Yes, I did say shared.

Exec/USGOVT/BGI/UK/Etc- "Well, sure we would like to give that idea more credence and study it. And the implications it may bring. Would you be so kind as to forward your attorney's information so that our attorneys can consult with yours in order to bankrupt you and send you away with you radical thinking?"

He has me convinced (a tough thing to do) that the level of collaboration amongst human geneticists and Venture Capitalists might not be exactly the level of their physician brethren....

What happens when you get access to a database, but not "all of it"

Who pays? Who benefits? Who gets rights of discovery? Who pays the Nosferatu? (sorry Dan)

With Sequencing as a Service, do you have these problems licked? Probably not.

So when Daniel points out every geneticist afflicted with a disease feel good discovery, there are about 100 nightmare scenarios of chasing down rare variants that turn out to be nothing except a good excuse to burn through 10 million dollars........

I begin to say, well how can we pick that up quicker? Comparative Whole Genomics.

Great, which database do I start with? Do I have to use 20 or 200 databases? How can I afford such work? Which one of the 200 won't make a play legally to own my discovery?

Ahh, yes. It is a good time to be a genome centric attorney. But a nightmare to launch a business where you depend on someone else's database.........

The Sherpa Says: Yes, sugar plums, ponies and lemon drops for as far as the eye can see for Genomics! I hope Andy will bring this back to earth........Or maybe Glenn Close can show us where the fruit punch swimming pool is?

  1. Genetic Medicine