DTC Genomics adjusts for regulations. 23andCGC?

In a blatantly obvious, why the hell werent they doing that in the first place? move.


23andSerge acknolwedges, finally, that they ARE Providing clinically important work. Duh,

Since the website won't let me copy the presser, I will quote, with my own translation through business BS speak.

"23andMe customers now have the option to speak with a board certified genetic counselor"

-Translation, we realized that by testing BRCA mutations we put people at risk and needed some back up from someone who knows what the FCUK they are doing opposed to a VC billionaire babe and ruby on rails programmer kids.

-Because, frankly, we don't want to get sued or go to jail......Like Liz Dragon......

"We chose Informed because they were the leading independent genetic counseling provider"


-Translation, we alienated/pissed off the entire rest of the FCUKING community by saying they were stupid. Thus these were the only guys who would work with a company getting ready to be pilloried by Congress

IMHO, Informed are a great service, we are modeling genetichub after them, but... No one else would work with them on this. NO ONE, or so I am told......

"We wanted to be sure that the information our customers receive would be completely objective"

-Translation: We didn't want to have egg on our face when the geneticists said, "Well Andre, that finding essentially means nothing to your long term health and happiness"

"Customers who want a more thorough review of their family and medical histories can chose the Comprehensive Clinical Genetic Counseling"


-Translation: Yes we know we have been pushing this "It's not clinical" thing, but let's face it, no one is buying it. So we said Clinical, yes we did. See Henry, we are trying Congressman. See. Please no pre-market review.

The Sherpa Says: Well 23andMe, I am proud you came around. Too bad it only took an FDA review and being called to testify before congress before you "acted" in the best interests of your customers. 3 years later and I can say it. I told you so......

PHG Foundation and my point.

A long time ago I had a post entitled "Beware Doctors Bearing Genetic Tests" back in April of 2007. It was an interesting post where I point out that this wonderful GI doctor who was IVY league trained completely hashed genetic testing for HNPCC.

I went on to explain the shortcomings with Internists in interpreting APC testing for familial adenomatoid polyposis coli. 1 in 3 misinterpret tests.....Wait till you see the DTC interpretation!

Everyone who gets all in a huff when I say that these DTC genetic tests should be regulated. But I am here to say there is a good reason for it, and it has nothing to do with the people getting the tests.......There is now threat of public harm.....

But first let me explain my frustration. Saturday I was on Twitter and Daniel MacArthur and I had a conversation, which he lead off by saying:

"@helixhealthct Just shows how arbitrary most medical care is anyway; not like it'll change the outcomes much.2:46 AM Aug 22nd from TweetDeck in reply to helixhealthct"

Which was in response to a PHG report on an article published in Genetic In Medicine [Kolor K et al. (2009) Genet Med 11(8):595].

Among the 1880 physicians sampled, 42% were aware of the tests(DTC Genetic tests) and, over the past year, 15% had at least one patient bring the results of such a test to them for discussion. Interestingly, of this latter group, 75% (212 physicians) indicated that the results had changed some aspect of their patient’s care.

Holy Crap! Really? 75% changed the care?

So it had me begging several questions.

1. Did the physician read the Terms of Service for the DTC test? "Not to be used to make medical decisions"

2. Did the patient read the Terms of Service when they brought this test to the physician.

3. How is the physician supposed to know that this is not a clinically validated genetic test?

4. How is the busy clinician to differentiate this test from other clinically valid tests?

5. Why did the patient bring the test to the doctor? Was it due to DTC marketing efforts?

I was pissed at Daniel. How dare he say what we as physicians do changes no health outcomes!

In some instances he may be right. In others I wondered how complaints may actually be neglected based on this "genetic test"

Did these 212 doctors know something I don't about the utility of this DTC testing?

I doubt it.

I am seriously concerned that the 3/4ths of the 18% had actually changed care based on a non-clinical based test. That, to me is Scary AS HELL!!!!!

Think on this for a second.....How many of these doctors will ignore chest pain complaints based on a low genetic risk?

Now think on this. How many doctors will unnecessarily order stress tests for patients who have no complaints and are "High Risk"?????

Either way you slice it, 3/4 of these doctors are acting incorrectly, or at least not according to evidence base.

This survey proved one thing to me. Doctors have no F^CK!n& Clue what they are doing with genomics!

Why should these tests be regulated?

1. Patients aren't following the terms of service, likely due to deceptive advertising

2. Doctors can pose a threat based on inaccurately using these tests

3. Over use of resources could end up being a big problem because of these tests.

4. The potential for public harm has now gone from silly consumer, to trained medical professional inflicting damage.......

The Sherpa Says: Like I said, beware doctors bearing genetic tests........and patients too.

23andMx looking to cook the books in CA with SB 482

Daniel MacArthur and I have been noticing something and he decided to cover it today, which is why I have decided to provide a counterpoint here....Also GenomeWeb published on this. SB 482 is a bill I glossed over in a post in the past and was recently interviewed for in the San Jose Mercury News.......

Daniel leads this as 23andMx leading the regulatory push.....but this is more insidious than that. This is 23andMx trying to cook the books and create laws which exempt them from the stringent regulation which they should receive......

I told this to the newsies over at San Jose on Sunday, so I am going to post this today......

It turns out that this bill SB 482 essentially exempts DTC companies from facing the harshest regulations that medical providers/labs have to face

From Daniel
"In other words, 23andMe is pushing to have companies purely providing analysis of genetic data regulated separately from those doing the actual laboratory testing. Since 23andMe out-sources its testing to an external laboratory, this would exempt the company from some regulatory requirements. The move follows some fairly serious regulatory controversy over direct-to-consumer testing in California a year ago."

Which I predicted BTW....... But in all seriousness, these portals to lab services view themselves as NON MEDICAL entities, that is the crux of this argument, and by passing this bill it would set legal precedent as being non-medical and not facing medical regulations......

But that bill should fall flat. Why? Because it is written with a false logic. I am about to explain the correct logic............

The assumption is, that by only running an algorithm on biodata and giving a risk number, you are not practicing medicine.....nor is it running a laboratory....

Thus they don't need healthcare regulation or medical lab regulations.....but they are dead wrong.....

The first myth: Running an algorithm on biodata and giving a risk estimate is not medicine.......

Answer: IN FACT it IS medicine, the AMA guide book for Current Procedural Terminology acknowledges that this IS medicine and it should be coded with the number 99420 of the evaluation and management code..... I run something called a reynolds risk calculation on patients. It is a computer algorithm found at www.reynoldsriskscore.com. Give it a shot, you will see it is very similar to a DTC genomic test. I bill and get paid for providing this medical service......

The Second Myth: Because we don't run the test, we shouldn't be responsible for CLIA regulations. We are not a laboratory.....

Answer: This company actually accepts ownership for the sample and provides specimen handling which is delivered to an analytical facility.....By merely handling the specimen they need to be considered as part of the healthcare unit, or apply for CLIA exemption. Any handling of any specimen can be billed for and should be regulated as such..... Not the shipper, the company/person/lab who takes ownership of the specimen.....

Lastly,

I was on twitter last night when I saw this ugly retweet come from the account at 23andMx RT @dane: @23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx! (via @23andMe)

Which raised eyebrows from myself and Daniel

"@23andMe For once I agree with (Steve) - implicitly promoting your chip as replacement for a validated CF test is a risky move.about 19 hours ago from TweetDeck"

I basically said that this is the type of shennanigans coming from a company who isn't being regulated.

If they were, this insinuation that using a 23andMx test for a clinical use, would never bubble up.....but it did.

And I am willing to bet the twitterer for 23andMx isn't medical at all....... Which is once again why, oh why SB 482 needs to be shot down immediately....

I am glad the ACLU is on this, but the AMA, The ACMG and the NSGC need to be all over this bill too........

As you can see from the edits, this bill was initially proposed as a healing arts bill, which is what it is....... But even with that, 23andMx has no use for YOUR laws.......

The Sherpa Says: 23andMx deleted that tweet, so at least they understand that what they are doing WAS and still is wrong......

GAPPNet, Hacked Records and ICOB

Happy Donut Day Everyone!

"Wha?"

That's what I said as I walked into my Dunkin Donuts across the street from our new HQ. The guy saw me coming in, prepped my coffee, Large Blueberry, Milk and Sugar......

As I went to pay, he said, "Happy Donut Day" I barely understood what he said when the manager said "Pick your donut, FREE"

OMG, as if I wasn't fat enough. How many other of my readers took the free Donut today. I looked around in my DD and it seemed everyone took the donut.

People certainly are game for free......... Speaking of FREE, the Coriell Personalized Medicine Collaborative is in essence a Navi/23andM- scan for FREE. I just got some more results this week. I don't have Hemochromatosis HFE type, Hooray! This can be yours as well.....

That is if you are willing to participate in the study. Which BTW, will be covering some markers which are NOT covered by any DTC company.........And these markers ARE CLINICALLY RELEVANT!

So what I am getting at is that the early adopters should not be paying anything for these services........

While the donut fills my sense of hunger for food, the SNP scan fills your hunger for knowledge. Either way, it should be free. Yes, only on Donut Day, but on non-Donut day it is only priced at 99 cents.....which is where the SNP scan will be soon enough....

Speaking about the SNP scans, I am sitting here pouring through literature for the CPMC's next ICOB meeting, which I will be attending via satellite from my outpost on the Gold Coast......

We have some interesting SNPs to debate about........It seems as if we aren't the only ones doing this......EGAPP does it as well and it sure is nice to have an EGAPP member on the ICOB......

But now the CDC has created GAPPNet. Huh? GAPPNet? "Mind the GAPP." Get it? What is it?
From the Site:

"GAPPNet aims to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice."

I wonder why they didn't call us.
At Helix Health of Connecticut we do this everyday.....Never mind the website, we are rebuilding it, just like the offices....... I really hope they do, as the inaugural meeting is on my birthday........I won't hold my breath though......

Come on Muin, just email me.......PUHLEEEEEZZZZ!!!!! There, enough begging for the day.

So you can read about GAPPNet in the ACMG journal Genetics in Medicine, provided you have a subscription, at 1k per year, sorry blogosphere......

As I close on this Donut Day, I want to say, not everything that is "Free" is ok. Remember that when it comes to storing your medical records........From Forbes on the 3rd, UC Berkley medical records hacked...... To protect your records, we are investigating NSA level encryption tools......You can never be TOO PARANOID......(Devilishly Crazy Laugh)

The Sherpa Says: To charge a price, you must prove value, to demonstrate value you can't go on Oprah and say it has value, you have to PROVE it has value.......You do that by "Just Doing It".......

Death Knell to Cancer Genetic Counseling?

ACOG has finally come around. They are now beginning to realize that it IS the responsibility of the OB/GYN to evaluate cancer risks. In this case BRCA1/2. Soon I imagine they will learn to appreciate the risk of Lynch Syndrome with their Endometrial cases.

All of this could spell trouble for the cancer genetic counselors in this country. OR it could mean a bunch of referrals. It all depends........

ACOG practice bulletin 103 recently published says

"Women may wish to discuss their personal and family history of breast and ovarian cancer with their physician in order to determine whether any further genetic assessment is warranted."

Well, with Myriad in your office saying, "Doc, you can do this test. And SHOULD do this test" It is going to be hard not too. Especially with ACOG now saying that OB/GYNs should do some evaluation.

So my question is "Now that their are guidelines, who is going to teach the OB/Gyns to do this work?"

My initial guess is the genetic counselors. Predominantly a female field it has done a great job of counseling these patients. But OB too is filled with women and they also have done a great job with other counseling. They do order genetic tests. So is this a big jump for them?

Probably not. In fact, I just spoke with a GYN who routinely orders the test and calls us for back up when the tests are positive or are variants.

Is that what will happen to CGCs in cancer genetics? Will they serve as "back up?"

If that happens, we may see a huge drop in referrals. Or we may see a busy OB not want to do this despite pressure from their patient AND the Myriad rep.

My guess, the cancer genetics programs who bill for physician consultation with a physician will likely suffer. So will those who bill appropriately for genetic counselor services. But this puts even further pressure on clinics to bill illegally, have no physician in the building with the counselors and then do a "quick" chart review on 40 patients in 30 minutes. With a flurry of signed notes.....you know who you are.

So, my guess, the "bread and butter" of Cancer genetics the BRCA evaluation will begin to fall further in the la of physicians who have had little training in genetics. Which scares me a little, but it should scare the hell out of the Genetic Counselors......What is their practice made up of? 75% BRCA? Probably.

The Sherpa Says: While community physicians are incorporating this ok, the mandate is now placed on the OB/GYNs. And when they have a mandate, you can sure as hell be certain that they will follow it. Hell, maybe they'll order the 23andME "Clinical Test".

Family History beats fancy Genetic Test! Again!

I was talking to the president elect of the ACMG the other day about something that could be pretty useful. I told him that even though we disagree about the role of DTC, I laud his efforts towards education.

Our teaching point should be plain and simple. The family history is the best addition to the geneticist's history and physical. It separates them from other specialities. It is a help towards clinical judgement and use of testing. This is precisely the thing that will keep geneticists from being replaced by eager self-testers and Online "web apps" to teach patients about their 6 billion base pair report.

In genetics we all know of benign variants in genes and hell, even chromosomes. Changes which in the grand scheme of things may never make a difference......that's because clinical always trumps basic science.

I was presenting with Aidan Power on Friday at Yale, when a "entrepreneur" said, "My friend a cardiologist from Cornell says that there are 'validated' markers for heart disease that no doctors are using." I told her that most "validated" biomarkers often add very little to the predictive abilities and algorithms we already have as clinicians.

I then mentioned the case with 9p21.3 where it adds absolutely no information to risk prediction when compared to framingham risk.....But is highly statistically significant for association with MI. So the statistically bamboozled non-clinician thinks that this is an amazing tool, while the physician sees this for what it is, useless information to help them predict disease risk, which is why I keep hating on these SNP chip testing companies.......They make science the lead, rather than the clinical utility.......which inevtiably will produce genohype! But I can't blame the two undergrads in Mountain View. Neither of them are clinicians......unlike Agus and Vanier.......

That being said, there is one thing that does add quite a bit.......Family History. Now in another, "Of course it does" moment a study from the home of Factor V Leiden

People used to use Factor V testing all the time. Now it has fallen out of favor. Even so you can see that sites such as DNADirect still offer it. Why? Who knows, maybe they don't follow the hematology literature so well......

From the study:

Frits R. Rosendaal, M.D., Ph.D., of Leiden University, and colleagues reported in the March 23 issue of Archives of Internal Medicine.
The risk quadrupled when family history included more than one affected member, and the relative risk soared to 64 with a positive family history and a genetic or environmental risk factor versus no family history or other factors.

Investigators found that 505 patients (31.5%) and 375 controls (17.3%) reported one or more first-degree relatives with a history of VTE. The difference translated into an odds ratio of 2.2 (95% CI 1.9 to 2.6). The association was stronger when only family members who had venous thrombosis before age 50 years were considered positive (OR 2.7, 95% CI 2.2 to 3.4) or when several relatives were affected (OR 3.9, 95% CI 2.7 to 5.7). The OR for venous thrombosis when several relatives were affected, at least one of them before age 50 years, was 4.4 (95% CI 2.8 to 6.9).

It sounds like we have some more clinical criteria which remains WAYYYYYY better than a Factor V Leiden gene test.

From the study.....

"Environmental risk factors together with a positive family history strongly increase the risk of venous thrombosis. In the absence of a known genetic risk factor, the risk is already increased more than 15-fold. Genetic testing to identify additional risk would then not seem useful."

The Sherpa Says: In another study, which will not be splashed all over the WSJ and NYT, we find, Family history has more power than gene tests.........

Another B.S. PR Move, Congrats Public Relations!

Ok,

To Quote Diane Sawyer "Is there any way that they could just report the diseases you can prevent?"

That was on Good Morning America today. I swear 23andME's PR firm has a plant in ABC.

So let me explain the clinical scenario. A woman walks into the OB's office carrying 30 pages of information on 90 different diseases. The super swamped OB has 15 minutes for the patient. In that time they need to go over sexual history, health history, anticipatory guidance regarding possible pregnancy, maybe perform a pap smear.....and suddenly, the OB gets ambushed with a 30 page hand out......


The Patient "Umm I was wondering, if I have a 1.37 Odds Ratio of having a heart attack, could I prevent my baby from having this?"

That is the story with 23andMe's new push for samples to sell to third parties....... errr sorry, I mean customers err......sorry I mean democratizing genomic testing.

That's right, they are going after pregnant women or women looking to become pregnant. In a move to fuse thenest.com with 23andME, in a hope to gain further samples by having women with a huge motive to protect their future, get DTC testing which in some cases may be clinical testing and in others, not at all..........

I am very happy this company has the PR power to motivate people to explore genetic testing options. I am not happy that they could pitch this as some sort of prenatal testing.

That being said, the OB community has been notoriously slow with some genetic testing, while amazing rapid with some others (SMA). And the OB often doesn't have the time or training to describe these clinical tests. Which may make this situation even more loaded with googling your genes.......

The Sherpa Says: I like alot of people am very mixed about this whole dump money into tests that may not be useful, but build the hype of genetic utility in order to "educate". On one hand it raises some awareness, on the other it may cause over utilization of medical tests or plain taking advantage of unsuspecting customers.....Time will tell what good the 2 gals at 23andME have done.......At least I already know all of the good that less than 1000 geneticists have done over the last half century. I put my money on THAT horse ALL the time.

Over 200 studies! What is BS? What is Real?

With the advance of genome wide associations we need to collate them and evaluate them. A research physician associate of mine told me that on average 9 out of 10 association studies will eventually be proven incorrect. His research, not mine.

That is a pretty huge number. But it is with that mindset in which I review GWAS. What do I look for? How do I evaluate them? There have been some good articles recently in JAMA which illustrate some of the key concepts.

• In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification.


• Was measurement of the genetic variants unbiased and accurate?


• Methods for determining DNA sequence variation are not perfect and may have some measurement error.


• Do the genotype proportions observe Hardy-Weinberg equilibrium?


• Have the investigators adjusted their inferences for multiple comparisons?

I have several others to add to this list, but HUGENet covers most of them. What is HUGENet? It is the Human Genome Epidemiology Network and it is a "global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease."

In essence this voluntary set of collaborators evaluates epidemiologically, NOT CLINICALLY, but epidemiologically whether a GWAS or other Genome study is valid. PLOS reviews thet workings of HUGENet in a nice article.

This is an important network to have.

In addition, EGAPP (Evaluation of Genomic Applications in Practice and Prevention) evaluates the validity and applicability of these results if they are attempted to be turned into clinical practice. This too is a consortium of physicians and scientists evaluating such tools. Genetics in Medicine has a nice article about the methods of EGAPP too.

It is important to note that these are not "in house" services. Why do I say that? Well it is a little cloudy if a company such as Navigenics or deCode is telling you that their tests are clinically valid......Why? Well, they are selling the tests. Doesn't that make you stop and think?

How does Navigenics review studies for clinical applicability? They have posted on it. In essence they require at least 250 cases and controls and have a limited requirement for independent replications.....unlike HUGENet.

Thus the quandary with "in house" statistical analysis for scientific validity OR clinical utility.

The Sherpa Says: If you want to know the skinny on any of these studies, you need look no further than EGAPP or HUGENet....rather than trying to make sense of it through your 23andME account or tursting deCode or Navigenics to provide "unbiased" evaluations.....

Recessionary Discretion......HotCoupons4U!!

Yes,


I am a big fan of the race to the bottom. At least in the case of SNP scanning. We have seen Navigenics drop their price, deCode drops off the earth and 23andMe???? Well, in a discretionary move they show use the true value of SNP scans.....




I give you HotCoupons4U.....The 23andMe special, pay close attention...


From the website.....




Featured Savings & Discount Deals


Win $5000 A Week For Life (Expires 2/26/2009)
Win $25,000 Room A Day (Expires 3/6/2009)
Dicks Sporting Goods Coupon: $10 OFF (Expires 4/30/2009)
Win a Smart Fortwo Car or $14,000 Cash (Expires 10/31/2009)
Get Free Nutrish Dog Food Sample (On Going)
Honey Baked Big or Small Ham Feast (On Going)
$3 Off Disney DVD in The Store (On Going)
ToysRUs Free Shipping on Select Toys (On Going)
Victoria's Secret December $10 off Any Purchase (On Going)
Win Free iTunes Music Gift Cards (On Going)
23andme Holiday Special - Save $200 or More (On Going)





Now correct me if I am wrong, but aren't they charging 399 USD for their test......so at most 23andMe thinks that their test is worth........199 USD AT MOST!!! Oh wait, this is off their family pack.....Oh, you know the one, where Anne Wojicki says you can drug your kid with benadryl for fun....and the same one where they say collecting your child's DNA is tough with the spit kits.......

Why would they lower prices even further? Because its your genome they want....not your money!!!!!



How it works:
1. Order a kit ($399 USD) from our online store.
2. Claim your kit by the claim code, spit into the tube, and send it to the lab. (The claim code is the 12-character code on the front cover of your green Spit Kit box. )
3. CLIA-certified lab analyzes your DNA in 4-6 weeks.
4. Log in and start exploring your genome.Learn more from https://www.23andme.com/howitworks/Available discount codes for 23andme: “spit party” or "SPIT"

I would like to add:

5) Release your genome into the wild and allow 23andME to profit off your folly without HIPAA protection or a certificate of confidentiality, like the one awarded the CPMC......

The Sherpa Says: Ahh Yes, it is coming in clearer now. The cost of a SNP scan is Zero US dollars.....until we prove it has value. Add on top of that the 1000 USD Genome and we will soon see that the real commodity is the interpretation and ongoing services revolving around your genome that will matter........Just like Thomas Friedman said about the Internet.......

HT-BC at EG

In the New England Journal Again! CRP genetics!

Trick or Treat..... That's Russ Altman, Disguised as a Wolf-Man!!!

First the Treat!

Ok, so I hate to say it, but I am firmly convinced that the New England Journal of Medicine has been taken over by geneticists!!! I jump for glee as I open a new edition and see genetics plastered all over it.....just like the week before......and the week before that! It is true....medicine will soon be a small sub specialty of genetics!!!!!! At least if the NEJM has their way with it!


Now for the Trick

But then I stop....pinch myself and ask "Now which company will rush to market with these findings???"""

The biggest danger to Personalized Medicine is not the lack of physician understanding. Nor is it the lack of good reimbursement systems. Nor is it the lack of education in medical school. Nor is it the lack of patient desire.

It is one thing and one thing alone.......The overselling of Genomics by corporations. 9p21! Failure to replicate!


Eager to earn a quick buck or two.....or perhaps eager to bleed cash for a few years until the tide comes in, but also willing to mend that bleed by hyping some bogus test...

This is the danger.....Why? Let me explain....


When I give grand rounds at some hospital in Connecticut I am often asked......"So do you do that 23andMe test? Isn't it bogus? Isn't most of what you do not actionable?" First I am amazed a doctor has even heard of this company...but then.....


I then have to take 10 minutes and explain what a geneticist does. I have to tell them about the several victories we have in being able to identify risk and treat disease. I have to tell him about chemotherapeutic agents targeted to tumors. I then have to tell him about the promise of gene based dosing of medications. And when I am done, they will walk away......Still thinking about these companies.....


You see, if the physician thinks that genetics is hyped up molecular tea leaves.....they are less likely to put it into practice. In fact they are even more likely to skip that article in the NEJM......By hyping, overselling genomics we are making physician skeptics. The very people we have to convince that there is great utility in personalized medicine......


When Time puts on their cover that the number one "Invention" (I say this because it wasn't invented in 2008) was the retail genomic test. I laugh because they are dead wrong and once again botched the story. You can ask Ryan Phelan, she has been selling genetic tests online since 2004. No new invention with 23andMe, just the re purposing of a research tool for clinical work....which normally takes years to happen, but in this case was rushed to market in a matter of months.....Medgadget calls this like it is TIME Magazine Panders to Google Overlords, Silicon Valley Czars, Hollywood Charlatans.......


So thank you DTC SNP testing companies.....you have set back personalized medicine about 5 years...while democratizing SNP chip data which no one can make sense of......By using celebrity and affluence you managed to convince people of the fallacy.....

But you see, doctors are pragmatic and they can smell the B.S. (Not the one issued to A.W. at Yale) from a mile away!

But the problem is, doctors aren't that nuanced and when they smell B.S. they call the whole field B.S.


So why do most geneticists speak out against DTC testing? Because it is ruining personalized medicine by lumping it in with this B.S. When will DTC learn this?

Well, one team has....That's Navigenics. They have decided to partner with Academia to study the utility of this testing. They understand it is in its infancy. Since the million dollar party in SoHo (No Navigenics doesn't have a shop in SoHo) they have realized that this is a long haul and the best way to work through this time is by proving the concept through science and an Institutional Review Board. Unlike the "Founders" of 23andMe, who instead choose to enroll children into their "study" without an independent review board to protect vulnerable children's rights....

Shout out to Coriell who has been doing the "Right Thing", since the very beginning....but I guess that's because they aren't trying to make a quick buck or 2.


So as a doctor when you skip over that Genetics article in the NEJM thinking this field is all GenoHype....stop, come see the Sherpa and we can talk about the part of genetics which is real.....



The Sherpa Says: I am dead serious. If this "it's for fun talk" keeps up, personalized medicine will be dead in the eyes of the physician....Oh and BTW, the article said that CRP polymorphsims (associated with increased CRP) alone do not increase risk of ischemic vascular disease (Heart attack or stroke), But elevated CRP levels do......Maybe genes aren't everything?????

The Sherpa's Plan: Fraudulent Acts for 200 Bucks. Enter the Nurse Geneticist!!

There is a storm coming. The way clinical genetics services are delivered in academic centers needs to change. Trying to make money through incident services could costs counselors and genetics departments everywhere.

Billing through an extender leverages the already busy clinician and helps us see many patients.

When a physician needs to bill for an extender they pick an NP or a PA. If they pick a CGC and never see the patient, bill for a clinical consult, and have someone forge their name, then they could be in a little bit of trouble. Especially with Medicare.....

Yet that is precisely what is happening in a majority of medical centers in the country. In my unscientific poll, 15 of the top 30 institutions who host cancer genetics clinics are doing this exact thing. I won't point fingers anywhere, but Friends....this is insurance fraud.

How is that so?

Well, according to the CPT code 99245, which 20 of the top 30 do code for and bill insurance for must include....

Outpatient Consultation: CPT Code 99245
Key Components (All 3 meet or exceed requirements)
E/M Comprehensive History
E/M Comprehensive Exam
E/M High Complexity Medical Decision
Problem Severity
E/M Moderate Severity Problem
E/M High Severity Problem
Physician Time: 80 minutes

When I asked several patients referred and seen at several cancer genetics clinics in New England, only 10% said they were seen by the medical director of the clinic. 20% think they were seen by a doctor, but upon review it was a very disappointing 12% that ever were seen by an MD. Yet, a quick review of their EOBs stated that they received a 99245......

That is called insurance fraud in many instances. I wonder what the insurers would say if this cat were outta the bag?

This all could be solved if:

1. The physician saw the patient and did the majority of the work

2. A physician extender who can perform a physical exam does the majority of the work

3. They don't bill insurance and take only fee for service

4. They don't bill for a 99245 and instead use the genetic counseling CPT code 96040 with HCPCS S0265: Genetic counseling, under physician supervision, each 15 minutes

Why isn't this happening? Because in a recent AJHG review . ....

Average reimbursement for 96040 was $53.87.

In the small number of instances where multiple submissions of 96040 were made because of a prolonged GC visit, payment for each submission was the same. Mean reimbursement for other E&M services were:

99241-$67.79,

99242-$113.17,

99243-$146.25,

99244-$243.68,

99245-$249.38.....(Man, my attorney makes 200 USD more per hour and he doesn't do nearly as much for my health!)

Willing to commit Insurance Fraud for 200 bucks per case? A resounding Yes!

My Friends, this is a non-sustainable situation. As soon as some insurers get wind of this (Trust me they already have) you will find fines and lawsuits galore. But I have a solution, the answer.....Nurse Geneticists. You see, nurses can be billed as physician extenders, legally. In some states doing this for CGCs is allowed....but that may change, given Medicare's reluctance.

“Incident to” billing enables certain categories of non-physician health care providers to bill through a supervising physician. Medicare permits this type of billing for the following non-physician practitioners: Clinical Psychologists, Physician Assistants, Nurse Practitioners, Clinical Nurse Specialists, Nurse Midwives, and Certified Registered Nurse Anesthetists. Genetic Counselors are not included most of the time.

Nurses can perform exams....and NPs can do this on their own. PAs can also bill through physicians. This enables you to bill at a sustainable rate for services.

How can you help us accelerate this movement? Call your insurer. Demand to be seen by a physician or physician extender if you were going to be billed for a 99245. How would you know? Check your EOB (explanation of benefits). My geneticist friends will be having strokes now. Why? They are too busy in the lab or writing grant proposals to see patients.

"Especially the "Bread and Butter" BRCAs that the counselors see" unquote. Personally, I find it insulting to counselors to talk that way. They deserve clinical counterparts to collaborate with them. They are not your workhorse!

Secondly, there are many patients out there who could use a good physical exam to enhance their cancer work up. Why isn't this getting done? Because Clinical Genetics Departments sit inside basic science departments and the focus is on discovery. Not clinical care....why? I think I just showed you the CPT reason why. 250 a patient? I charge 750 per visit just to stay afloat!

Why should you demand this service? It will put stress on the broken system. To repair that system, we must first rebuild the foundation.

The Genetics Education Program for Nurses at Cincinatti Childrens is doing just that. Nurses are the foundation of great clinical care. Why shouldn't they be a part of Genomic Medicine?

From their site:

The Cincinnati Children's Hospital Medical Center's Genetics Program for Nursing Faculty (GPNF) was a multifaceted genetics educational program for nursing faculty. The GPNF was made possible through funding from the Ethical, Legal, and Social Implications Research Program of the National Human Genome Research Institute at the National Institutes of Health and the Division of Nursing, Health Resources and Services Administration.
The GPNF highly acclaimed offerings consisted of:

Seven annual on-site Genetics Summer Institutes (GSIs)
Web-Based Genetics Institute (WBGI)
Participant follow-up, educational support, and networking opportunities
A two-day genetics update workshop offered every two years

Nurses have existed on the fringe in this field. I am certain their day is coming. ISONG does too.

What is ISONG? The International Society of Nurses in Genetics. They are committed to working with genetic counselors. I think this is the right way to go. Unfortunately, many departments view one or the other as an extra cost. That is, until now. You see, if the departments can get away with 99245 without physician exam, then they won't staff appropriately. If they don't have to staff appropriately, they never get the collaboration which is needed here. They are too short sighted to see......

The Sherpa Says:

Legal loopholes may let your department survive with this "billing scheme" for now. But it will change very soon and someone will get fined or punished. I hope your academic center is ready to truly support the clinical department.

Sherpa's Plan: Lack of Qualified Education Sources

I have received great response to our HelixGene Foundation. We are quickly building our community. It is so heartening to see everyone support this effort. It is frankly, breath taking!

Today I will be headed to a wonderful company. They are called Cine-Med. They are joining forces with the Sherpa to create Genomic CMEs. We have some great ones that are fast approaching launch.

My mentor told me that I am doing to much. But I have to tell you, I am not doing enough. I need your help. Help empower physicians to learn and practice Genomic Medicine!

Remember what I said about NCHPEG.....only 6 of 100 primary care physicians had ever heard of them. Instead they would rely on the Sunday NY Times. There has to be a better way! Either we launch a multi-million dollar awareness campaign for NCHPEG or we partner with someone who already has that recognition. I am working on that one too!

The Sherpa Says:
The NYT article on Sergey was the call to action! We need to act by uniting and guiding this field up the mountain!

Burrill Report....deCoded

Consumers are worried about developing genetic based diseases, but remain reluctant to use genetic tests that will provide early warning signs.





That is the lead statement in the executive summary from the Burrill and Company Personalized Medicine and Wellness report issued last week. Many may ask "What's this report have to do with me?" many have even doubted the validity of the report in favor of the blogosphere......In the arena of Genomic Medicine, I would say the blogosphere is pretty one sided.....IN fact, that is why the Sherpa is popular. Until I started blogging, this place was pretty much a mutual admiration society. Further proven by the backlash I received when I said that governmental regulation was coming and then came.


So let's go back to the poll.....


Second Line

Companies need to make the case for the benefits of testing, allay privacy concerns, and would be wise to work through doctors.


We have known this in Medical Genetics for a very long time. If you have counseled anyone, you know these concerns to be true.....


Only one in five consumers said it was very likely (5 percent) or likely (15 percent) that they would get a test in the next few years to measure their genetic risk for certain diseases.


This is a point of contention between Daniel and Me.......He says 20%......I say 5%....


Why? Only the very likely will get the test. It is just like a referral to see another doctor.....if you aren't feeling ill, only the very likely will ever go see that specialist.....It is called the attrition rate and is commonly understood in medical care......only 20% of your "presymptomatic ill" ever go see the referral.


So, I remain certain, the market for these tests is 5%

Just 4 percent of those surveyed said they have ever had a genetic test to determine their risk for a particular disease, but two-thirds of those who did so because it was recommended by a doctor.


My guess is that these patients received BRCA testing. What this doesn't say is who ordered the test and was it done DTC versus through a physician. Did the other one third "Ask" a physician for the test? The most likely reason a physician orders a genetic test? You Guessed it "Patient Request"


I don't believe all of this self reported survey (Physicians never like to look out of the loop) but the most likely reason to test is pretty strong.


Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%],


feeling qualified to recommend CSTs(cancer susceptibility tests ) (OR, 1.96; 95% CI = 1.41-2.72),


receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%),


and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%).


It Trumps Feeling Qualified!!!! Even Myriad knows this!


So with this in mind, let's go back to the Burrill Report.


What About GINA????

only just over a quarter of respondents (28 percent) said the passage of GINA made it significantly more likely (7 percent) or somewhat more likely (21 percent) that they would undergo genetic testing. A total of 68 percent said the passage of the law would have no effect on their decision to get a genetic test.


Remember the rule of attrition......that to me states only 7 percent feel more likely to test.....But the physician recommendation may alter that a little bit....not alot, but a little. We saw a spike at Helix Health of Connecticut....so I know this must be influencing some....


SO Who did the report?

The survey, conducted through ChangeWave’s proprietary network between May 27 and May 30, 2008, is based upon responses from 550 consumers.


AND THE NETWORK CONSISTS OF?????

Nearly 3 out of every 5 members have advanced degrees and 93 percent have at least a four-year bachelor’s degree. This is a proprietary network of more than 15,000 highly qualified business, technology, and medical professionals in leading companies of select industries—credentialed experts who spend their everyday lives working on the frontline of technological change.


IS THERE MORE TO COME?????


These results represent the first part of a three-pronged benchmark personalized medicine and wellness survey that is being undertaken by Burrill & Company. Companion surveys of physicians and industry professionals will be joined with this study for the final report, which will be made available this summer.

I found this article in 2007 by David Ewing Duncan very useful. The Quote from Lee Hood and then from David Altshuler both physicians.....

David asked Lee who has met with Google and has long been a maverick bridging the worlds of biology and I.T., "do Web entrepreneurs truly understand the limitations and pitfalls of this science?"

“They absolutely do not,” Hood says. “The heart of predictive medicine is in getting clinical validation and working out the fundamental biological systems—how genes and proteins and other elements interact. I don’t think that most of the Web 2.0 crowd entirely gets this.”

The he asked David what value do you see?

Critics also see little value in testing healthy people for a wide range of possible diseases. “We don’t take an M.R.I. for everything, and I don’t order every test for every person,” says Harvard geneticist and physician David Altshuler, a key figure in the Human Genome Project. “Those who do are scamming people. It’s the idea that just knowing something is useful—well, maybe, maybe not.”

I wonder what the physicians poll will show????

The Sherpa Says:


The writing is on the wall....Despite what the blogosphere says.....if these guys have 15000 members, why poll just a paltry 550? Because all they needed for an effective sampling WAS 550....We are not talking about a study to establish linkage here ladies and gentlemen...we are talking polling....much like political polling they only need a good sample....unlike(No offense) the skewed sample in the blogosphere. To Industry I say, get to know your doctors. There is a reason why Myriad is so successful......

Daniel is a Great Guy!

I wanted to post quickly today on a this whole turf topic again. I thank Daniel over at Genetic-Future (Pound for pound the best new blog in this arena). It took some discourse to figure it out.

What happens normally with genetic testing?
Traditionally a lab scientist, being PhD or MD runs the lab and when results are in writes a report that is to be delivered to......Guess who? A physician. That physician or genetic counselor working with the physician interprets the report clinically at the interface of the patient.......presenting the patient the results and the clinical implications. (This is the part that laboratory scientists often never see)

Eureka! I have finally figured out this whole play!!!!

Why is the state cracking down? When these DTC companies, Genetic, SNP, or not deliver results to the patient/consumer......the traditional method is blown away. There is no trained clinician to "re-interpret" these results in a clinical fashion!

I stumbled across this when Daniel said to me (loosely and not in these exact words)
"If your theory (SNPs + Interpretation = Medicine) then I am practicing medicine." That's when it hit me.....if he delivers these results to a trained professional...as is the existing model of genetics, then he is NOT practicing medicine. Because the clinical professional will then re-interpret the results in a clinical light. This makes tons of sense. Why? Most lab physicians and scientists have never spent a day taking care of a patient clinically.... Some have, but not most.

So, I finally get why all the lab guys (and gals) are freaking out at my comments and attacking with the "Physicians are trying to get more turf!"

The simple answer is, "That is Bull$h!z" The lab guys are actually trying a power play here. They are the ones trying to increase their turf without playing by the clinical rules. Why? Because they never had to play by them before! It all makes sense to me. How can we expect non-clinicians to adhere to clinicians' rules? They never had to before....other than this one huge rule......"The results always go to the physician/clinician."

The Sherpa Says:
This regulation is because scientists crossed the line into clinical, NOT because the clinicians want more work...Trust me, they have more than enough. The buffer is already there, no one is making any new rules....these are the same 'ol rules.....that are not being followed. That's all.

Newborn Screening for Alzheimer's Disease?

Don't Forget that Gene Genie is up at Neurophilosophy so check it out!

I want to thank the Connecticut Geriatric Socitey for inviting me to speak at their wonderful group's Annual Meeting. It was a lively time and the Salmon was excellent. At the end of the lecture we had a lively debate with several clinicians.

Family history is king when it comes to Alzheimer's Disease. APOE e4 testing is not super worthwhile, unless you identify ApoE e4 in an affected and then work the family up that way. But the 3 gene panel for Early Onset Alzhemier's is definitely a must. Provided the 3 tenets of Informed Consent are met.

What are those 3?

1. A plan of action for results. "What would you do if you had a positive or negative or uncertain test result?


2. Are you Psychologically prepared to handle the results. And do you understand the implications?

3. Do you understand the limitations of the test?


If those three things are met, then testing is likely going to be beneficial. Provided testing is medically indicated.

Here is where I see some shortcomings with this. Did you know that in the US every pregnant white woman is tested for CF carrier status once pregnant? Did they give informed consent? Usually no. It is just added to the panel of testing, much like the quad screen. There are some serious implications in the prenatal realm.

In Medical News Today there is a PR post regarding The Treuman Katz Center for Pediatric Bioethics at Seattle Children's Hospital hosting its fourth annual international bioethics conference on July 25-26, 2008 in Seattle.

This conference will cover some tough issues. Why? Because they need to be addressed. At the Geriatric Society talk, I was asked about pre-implantation diagnosis for Alzhemier's. There is a case report of PGD for Early Onset Alzheimer's with the gene APP. This poses some serious controversy..

Personally, I think this expresses a severe pessimistic view of adult onset disease and the likelihood of no better treatments for Alzheimer's in 30 years. Can you imagine that? It is alot easier when looking at a disease like Huntington's Chorea, where we have known the genetic issue for decades. True for APP Alzheimer's as well. So I ask you, is it such a stretch?

Issues to be covered include: From the Site

With technology rapidly advancing — bringing about more genetic tests — many ethical and policy questions must be addressed to appropriately use these new tools of genetic assessment in children:

• Which tests should be required of all newborns, and which tests should not be permitted until the child is an adult?



• Should parents be able to test young children for the risk of future diseases, such as breast cancer or Alzheimer disease?



• What obligations are there to inform family members about genetic test results that may impact them?



• What are the ethical implications of using genetic tests to predict behavioral traits, such as attention deficit disorder, addiction and depression?



• What are the ethical considerations of looking for a genetic predisposition for enhanced abilities, such as the potential for sports performance?



• What if adolescents and their parents disagree about genetic testing decisions?



• What genetic tests should be available to prospective parents before the adoption of a child?

A representative from Helix Health of Connecticut will be there. Hopefully it can arrange to have one of the MediCasts cover these topics.



The Sherpa Says:

Ethics, a class taught in all medical schools. Hopefully it was also taught in B-School. The Sherpa has been down this road before..... The Sherpa will be speaking at the Beyond Genome Conference on Tuesday. If you can come, please do.