Prior Authorization for a Medically Necessary Test?

As if this couldn't get any worse for genetic counselors, who BTW get paid next to nothing by insurers........ United Healthcare is now requiring Prior Authorization for BRCA testing. In their policy bulletin from May, Volume 31.......

The coverage determination made regarding BRCA testing for your patient will be based on the UnitedHealthcare medical policy for BRCA testing, which is based on the clinical evidence and is closely aligned with the criteria developed by the organizations listed above. This coverage determination will be conveyed to you promptly by either phone, or letter or both. Of course, adverse determinations are subject to all applicable appeal rights.

Add that to the list of scut work which the counselor will get stuck doing.... So much for same day testing in a timely fashion! At least you get an appeal!

My guess is that this set of patients will get the services they need, in a very, very delayed fashion. I sure hope we don't see a cancer develop in one of this patients while their testing is "awaiting approval"

A huge loss for cancer genetics, but also a stopgap from the misuse of testing which has been going on for a couple of years now, while Myriad has profited handsomely......MYGN...

Buttressed next to this claim is the fact that United will proved you with access to an "independent" genetic counselor..... How's that for lipstick on that pig.......which has me wondering, will that counselor be from DNADirect or Informed Medical Decisions.......DNADirect, BTW went from online test supplier to care provider........a sound business decision which I hope Navi will come to shortly.....

The Sherpa Says: Increasing barriers to prevent abuse is likely what will happen with healthcare reform....which is what shouldn't happen. What should is in the NYT Sunday....Hey, we do that!

The Wicked Witch? Or Not?

Ok, so everyone knows now that ACMG et.al. is suing Myriad for patents on BRCA1 and BRCA2 testing...........

Let me be the first to say that patents stifle research. At the same time patents don't stifle innovation. In fact they actually reward it. And they also give lawyers a job.....aside from Congress, these days this may actually be the only business lawyers can get steady work from......

Myriad has built quite a company out there in Utah in case you have missed it. The stock is trading at a decent 32 dollars a share, they have money in the bank and are most importantly delivering a very needed service.

In addition, they are helping patients discover risk and have some very useful sets of information and patient support. They also do philanthropy BTW.....

So I have to ask myself, should we punish someone who is doing good? The answer is a resounding yes. Laws exists and courts of law exist to hash out differences.....whether they are hairbrained or not.....

Trust me, I have seen hairbrained differences.........and accusations.......

What the ACMG is bringing is not exactly hairbrained......

That being said, if the monopoly on this test is removed, we will soon see the true and complete race to the bottom for ALL MOLECULAR TESTS......for those that think this will ONLY affect Myriad, think again.

My guess is that this move is designed to bring BRCA testing in house in a whole host of academic labs....where the send a bundle of these tests of each year. I know, I saw it first hand.......our Ashkenazi Mutations were sent off to Allen Bale's lab, NOT Myriad....

I am still trying to figure out how he saw all of those patients.....

Anyways, I digress......If the patent is removed, then this will be a deathblow to things like APOE testing and the like......Clinical DX and the 5000 USD familion panel will be destroyed AND more importantly, this may prove to be a huge disincentive to have a small boutique lab doing rare diagnosis.....i.e. GeneDx

What we would soon see is the huge shift of these labs into large academic centers and the roll up of these little labs into the big guys who can then deliver testing at a cheaper rate....not necessarily better, but cheaper.

The legal challenge here is whether gene patents are uncostitutional or not. It turns out that the USPTO is part of the lawsuit as well. Yes, correct. The very body which issues patents is being challenged......My initial gut says.....when you fight the government and the administration is pro-gov't.....you will likely lose. But in this case, we could see the opposite.

In addition to several individual women patients and researchers, plaintiffs in the case include: the Association for Molecular Pathology; the American College of Medical Genetics; the American Society for Clinical Pathology; the College of American Pathologists; Breast Cancer Action; and the Boston Women's Health Book Collective.

I would love to hear the opinion of my legal experts here....In fact I have sent out feelers to the best IP and Personalized Medicine attorneys in the land......I will let you know what they say shortly.

In addition to the illegal nature of patents, they are also arguing that it is against the First Amendment to patent scientific knowledge...

This case is landmark and likely will go to the Supreme Court (My Guess)

The Sherpa Says: Beware the hand that feeds you.......and in this case, Myriad probably should have dropped the price just like 23and- did when the economy turned south. In a recession AND a healthcare crisis it is NOT, I repeat NOT a good idea to screw with Medicare by charging 3000 USD for a molecular test.....Or Drew covered in pink in a picture from over a month ago.....

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".

deCode Versus Arthur Caplan PhD.

To attempt to sort out the hype from the hope, Sherpa Style. I will review each and every SNP that deCode is using for it's Breast Cancer Test. This weekend I will cover the first 2. But first some hype from both sides.

Dr Caplan from MSNBC

Genetic testing for all sorts of conditions is all the rage these days. Everywhere you turn, some company is urging you to spit in a cup, take some blood or swab your cheek so your DNA can reveal your health risks, know who your long-dead ancestors are, pick the right mate or help you design a diet that is perfect for your genetic makeup. But, "spitomics" has gotten way ahead of genomics.

Sadly, the tests Decode and other companies are offering are more likely to empty family pocketbooks and leave women with a false sense of security than they are to prevent breast cancer.

Dr Gulcher from deCode

Arthur Caplan stresses caution in the application of the new genetic risk tests for common diseases and I certainly agree that genetic testing should be applied with care. However, he goes too far when he says that the new deCODE BreastCancer genetic risk test is only useful for women who have two or more close relatives with breast cancer, is not based on large enough studies to be accurate, and is not regulated........Each of the genetic markers in this risk test have been replicated in between 5 and 30 different populations in studies by deCODE genetics, the National Cancer Institute, and UK Cancer Research.

These studies have been published in the most prestigious, peer-reviewed journals, including Nature Genetics and the New England Journal of Medicine. Altogether almost 100,000 patients and controls have been studied to define the marker risks. We made this test available for physicians to order for their patients through our reference laboratory which is regulated under CLIA by the US Federal government.

There are two major types of breast cancer: the rare, early onset form that occurs in certain families and for the detection (for which the Myriad Genetic test is well suited), and the common form which accounts for 95 percent of breast cancer.

Well, Dr. Jeff, you are making the case for BRCA smaller than the data shows.....So right off the bat I am a little suspect.....The number for familial breast cancer is 10-12% and BRCA has the majority of that......Oh and you do read the economist don't you? Famous is not always better buddy.

Ok, so who is right. The chances are high that they both are. But let's go to the tape!

What are the SNPs they test for? On limited weekend hours I will review 2 SNPs.

1. rs13387042 when looked up in a pubmed search only shows one article in Nature, by guess who? deCode.....still waiting for this "Well replicated SNP"

What does this SNP reveal and for whom?

Population: Icelanders, replicated on Northern Europeans (Sweden, Spain, Holland, US MEC)

Prevalence: 25% of Europeans, widely varied in other ethnicities

Function: Unknown, no genes known in this linkage disequilibrium block.

Penetrance: Unknown, OR is 1.2 for ER positive and 1.06 for ER negative

This study isolated 10 SNPs and only 2 SNPs replicated, I don't see the unreplicated ones in the paper. Importantly, this SNP did not replicate perfectly in the Swedes.... The SNP varied widely between ethnicities in the Multi-Ethnic Cohort in the US.......They observed no interaction between the 2 SNPs that replicated in Caucasians.....The effect seems that it could be recessive.....

The study even acknowledges that this was a limited effort in finding risk SNPs....."However as the relative risks remain low, they (these SNPs) can only account for a small fraction of the familial clustering of this disease.

2. rs4415084 guess what, the same thing happened with this SNP. Only one article, by guess who? deCode. This time in the Brief Communications of Nature Genetics......I look forward to the Independant Replication...

Population: Iceland first, then replication in (Sweden, Spain, Holland, US MEC). It flopped in Nigerians!

Prevalence: Not reported in this one and only paper on this SNP

Function: Unknown, but maybe linked to FGF10 which is amplified in 10% of breast cancers. Also MRPS30 is in this area....but really, we have no freakin' clue.

Penetrance: Unknown, but the OR for ER positive breast cancer is 1.27, for total breast cancer is OR of 1.14

So let me translate. These are 2 of the seven SNPs DeCode claims will help show risk of common (Read as not BRCA related) breast cancer. If this is any indication of the rest, I am sad to say that they are out on a limb here.

Several clinical questions come up when I want to order this test.

1. Who do I test? In the case of these SNPs, I would guess white women.

2. How common is this risk? Not very common in the case of Asians or Africans. In fact in one of these papers, a SNP being tested for didn't show increased risk, it actually showed protection from breast cancer.

3. How do I counsel a positive test? Tough to say. We don't know the penetrance, we know an odds ratio for a certain group.

4. Can I see deCode's data on their magical risk calculator thingy that includes these SNPs? Or is that a trade secret?

5. How reliable is this science? Not very, the studies were replicated by deCode and not by other groups.....

6. Is this "test" validated? I would love to review the seven panel test publication....oh wait, I couldn't find it.....

Not all of these SNPs are that thoroughly validated or as "replicated" as Dr Gulcher said. So this is the case of rushing to market with a test.

The Sherpa Says:

This test is Hype until proven otherwise. I await the future studies on these SNPs. Dr Jeff does a good job on deCode's blog of promoting it though. I know early detection is key and pre-disease is the new disease, but a clinician has to have confidence in their tools. This one is a little primitive for me.......and at worse could give patients a false sense of security. So guess what......Jeff and Art, you are both correct.

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.

Christina and Jessica beat BRCA1

I certainly hope my friends at Speigel and Grau get in contact with Christina Applegate. As I suspected and mentioned on August 7th......It seemed, based on the limited family history I had, that Christina Applegate was a BRCA carrier. Today, I find out I am correct.

This is timely news as Helix Health of Connecticut is now releasing the CliniCast from May 21st 2008: "How Genomic Medicine is Changing the Management of Breast and Ovarian Cancer". Interestingly, this was the day which GINA was signed into law. In fact it happened right when Jessica Queller announced to the world that doctors who are "too old" to learn genetics should retire.

Well Jessica, I am here to teach those doctors.....If they don't want to learn, then I agree. They should retire.

If you want to learn more or even take a listen to our CliniCast, you can pre-order them here.

In addition, if you are listening Christina, you can get a copy today. Just email me at thegenesherpa@gmail.com

Ms. Applegate is scheduled to appear on a one-hour TV special, "Stand Up to Cancer," to be aired on ABC, CBS and NBC on September 5 to raise funds for cancer research. I am looking into how I can help with this fantastic fundraiser.

The Sherpa Says: BRCA is scary, breast cancer is even scarier. When you know your risk, you can detect disease early and even prevent it in the first place. That is the definition of Personalized Medicine.

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......

Ball's in Bush's Court and Why I Love Genome Technology Online!

I hope everyone who reads this will subscribe to Genome Technology Online (This is not a paid advertisement this is my opinion).

Why? If you are asking this, it is likely because you have never received the email newsletter.


I am always impressed by their ability to capture the essence of what is going on in the Genome World Daily. They have excellent reports for purchase as well. But frankly, just getting the email everyday makes my heart twitter (I can't get sued for using that word can I?)


Today they poke fun at Corporate Genomics and make mention of 2 very well written articles. One over at the Wall Street Journal. Yesterday I took Marilyn Chase to task. Marilyn, please don't get mad. Just give me a call next time you are writing about genome studies.


And another story at Portfolio. The WSJ article will be lifted by me or maybe they lifted the Sherpa.


Despite heavy marketing by some genetic-test makers, the wide use of genetic tests has been held back by a variety of factors, including questions about the tests' usefulness and concerns that results could be used by employers and insurers to discriminate against people. Critics argue that many tests can't accurately identify which people are at risk for various illnesses.


Tests are often pricey, costing hundreds of dollars. "In the common diseases, there's more predictive information today in knowing family members had it than knowing" the results of the newly developed genetic tests for such conditions as Type 2 diabetes, says David Altshuler, a professor at Harvard Medical School.


Anna, I loved the article. Well written and balanced. Maybe you could get together with Marilyn?


Even better is the article from Portfolio, where KK at The Quantified Self/Wired contributor and David Ewing Duncan go over corporate genome scans. It is funny, but in KK's blog he finds 23 differences in the genome scans between 23 and Me and DeCodeMe....Get it? "23" David also points out several differences. Gentleman, your risk differences from companies is simple.....Unless viewed in the light of family history, these scans are not relying on much in the way of science. One or two very large studies does not equal good medicine. I am sorry to say that, but it is the G_d's honest truth. You need medical guidance to truly determine these risks.

Hmmm...that's funny. I have only been saying that for the last year.....



To give equal time to these parties...We recently saw a wonderful patient who had one of the Navigenics scans. Here's what we found. The patient had a much higher risk for heart disease based on family history. In addition, may have a familial hypercholesterolemia. I am certainly glad that the patient came to us for a family history. We are seeing more and more of these patients. I think it is because of articles like these.

The message is simple. Don't expect much from these scans and in fact you should have some evaluation by a trained medical professional to make the most out of your results. Not to say these companies can't do great things. They just need a litlle collaboration. In fact Our Values mirror theirs.


As for the WSJ quote by Keri Stefansson. Does he think I am an idiot? You may be able to slip this past the public, but not me.......Obviously all that training in neurology made him forget the 1 year of training he did in internal medicine, Or gave him dementia.


Kari Stefansson, chief executive of deCODE genetics Inc., an Icelandic company that markets an array of genetic tests as well as a broad genetic scanning service, says tests for such conditions as Type 2 diabetes are important, partly because negative results may convince consumers to try healthier behaviors. "All preventative medicine is based on the assumption that you can raise concerns," he says. "Are these guys telling me it hasn't been worth measuring cholesterol all these years because other factors also affect heart disease?"


Well Keri....maybe you forget to tell the paper that an elevated LDL or a Low HDL or a high triglyceride level are like way more predictive of risk for Heart Attack than your TCF7L2 genetic test is predictive of Diabetes. At least by a factor of 10 if not 100. In fact his statement just pisses me off. How dare you, as a medical doctor, compare these things! It is disingenuous. You obviously want to confuse the public and have only one agenda. Selling your test! Shame on you... You are supposed to be a scientific physician. What kind of comparison is that? Do you remember your hippocratic oath? I would expect that hyperbole from non-physicians, but from you???? I am embarrassed.

"In every house where I come I will enter only for the good of my patients, keeping myself far from all intentional ill-doing"


The Sherpa Says:


I hate saying that I have big news when the television journalist drops my interviews in the end. But I have some even bigger news. Stay tuned, I will be able to tell you about it in 2 weeks. It does look like the United States will have big news too, since GINA has now passed in the House. So I say President Bush...."Ball's in your court" As for these articles on corporate genomics. Like Senator Obama, scrutiny is not doing the corporate genomics companies any good.

Polls Closed, Myriad Tallies Up and We await Navigenics!

First I would like to thank everyone who voted on this very non-scientific poll. I extended the voting over a month, thousands of visitors later, we have our results.

What Personal Genomics Company is most Likely to be sued 1st?

23 and Me - 70%

Navigenics - 15%

DeCode - 10%

Knome - 3%

You may be saying "Hey That's Only 98%" I say, "exactly" That's why it's not scientific. For all who may be reading, including my daily friends from Mountain View (that's right, everday)
Who exactly will be doing the suing? Maybe an Attorney General? If you are Myriad then that is the case. I prevously posted about this dangerous predicament these genomic companies could be in and the reposted last week about it.

As for Myriad, expect more BRACAnalysis ads to be coming. The WSJ reports that the Myriad ad campaign in the NY metro/NE area has increased sales of their test. from medical news today:

According to the Journal, sales of BRCAnalysis, which identifies the BRCA1 and BRCA2 genetic mutations, have increased by about 55% from $34.2 million to $53.1 million in its second quarter that ended Dec. 31, 2007.

Does this mean more patients at risk are getting identified? Most Definitely. Does this mean that their opponents are saying that more people are getting tested inappropriately? Most definitely. How did this campaign succeed where the one in 2003 fizzled? Primary Care Providers including OB/Gyns. Ask your local rep how many more tests came through these avenues and I think you will be surprised.

Now back to the wait. Navigenics is slated to open early this year. With GenomeBoy receiving an invite to the ball, I am certain to see this launch very soon. Will they follow Myriad's suit? I imagine a 3 million dollar ad campaign would work very nicely in the tri-state area. But then we have to warn them of the DTC testing laws in these states. Lest they end up like Myriad.

I guess anyone can file a suit these days. So here's a word to the Genomics Companies....."Be prepared".

As for the other companies not so well capitalized....."Be Afraid"

The Sherpa Says:
If I had a law degree, like the millions of lawyers out there who can do this work for free. I would bone up on genetics legal precedent, corporate protections and genetic discrimination. If you think a certain ex-candidate for president made a bundle suing OB/Gyns, you haven't seen the beginning of the legal fortune to be made in genomics.

Staying Positive

I was showered with a host of emails from my readers today. The GTO highlight, The Issue feature, Scienceroll's commentary all the readers had to say one thing. Sherpa, take it easy. You beat up on DNADirect and their questionable questionnaires, You picked on Forbes giving hype to deCODE, You pointed out that Navigenics had some sketchy ethics, Slammed Salugen, Attacked Myriad, and Now little 'ol 23 and Me. Did you have to sink this low?

Sink this low?

Wow! Ok, so I have been known to blow my top a time or 2. Can you blame me? Have I stated any incorrect facts? Maybe some, which I have quickly amended. Including the fact that DNADirect does not "mark up" test costs. Even though I am still unsure of how a company who sells tests at cost and charges 75 USD for phone consultation (even less than an academic center that is losing money on counseling pays a genetic counselor) makes any money.

So why did my readership feel this way? The answer. "Why won't you endorse us using suspect science data to give us suspect risk assessments?"

Huh?

Yes, it is true. Even the educated are intrigued by this little black box known as the Gene Journal and Risk calculator. Fine, I like the magic 8 ball too. So here it is. I am putting it on the record. I will not hate you if you use 23 and ME. In fact, I suggest you use it after taking a family history and having the familial risks evaluated. If these SNPs give you more insight than a family history....I applaud you. Here's my last appeal, please realize that this data will not be considered medical records if you use a non-healthcare company to screen your genome.

If you want the BEST coverage, you should use deCODE, 23andME, AND Navigenics services. This is the only way you will get ALL the SNPs your little lemming heart can desire.

Then, when you want to make your genome a medical record and protect it, ask your physician to review the data. If they rebuff, go see a geneticist. Helix Health of Connecticut can interpret the SNPs in concert with your family history. Your Genome In Context........ ;)

The Sherpa Says: Please don't hate me for the aggressive commentary. I am not a hateful guy. I just call it like I see it. Maybe you see it differently and that's the great thing about the Blogosphere. Different viewpoints, Different ideas, The Same Passion.

Scienceroll reviews Personalized Medicine Companies

Today, Bertalan Mesko at Scienceroll has reviewed three companies. Navigenics, 23 and Me, and Helix Health of Connecticut of CT. For full disclosure, I am not only the owner of Helix Health of Connecticut, I am also a patient. My family has a significant genetic background for disease. Because of this, I was motivated to change the paradigm of current medical/genetics practice.

Berci does a nice job of describing the companies and what he estimates their best attributes.

"If we could merge the real advantages of these companies:

• the fantastic team of Navigenics and their unique business model;
  


• the financial background of 23andMe; the focus on genealogy information and social networking;


• the personal aspect of Helix Health of Connecticut and their potential to serve and help physicians as well,

…then it would be the perfect service. But it’s impossible to compare them properly as they are all unique in their own way and will probably find their base of customers."

I have to say that I am in agreement with Berci, I wouldn't mind working with Navigenics or 23 and Me to help shape this field known as personalized medicine. I have had experience with the multiple legal issues involved in providing telemedicine and other scalable services this way. But I must re-emphasize that nothing gets truly communicated unless the patient has the ability to ask questions, over and over again. Can someone who has never been trained in medicine answer medical questions? Yes. Will they be protected from litigation? No. Will they provide insightful answers....I leave that answer up to you.

I don't believe it is a smart idea to cut out the health care provider from this equation. Full Disclosure (I am a health care provider). But that's not why. I have seen it done the other way. I have seen patients who have had DTC testing. They have received services from certain unnamed companies and couldn't understand what was going on. Even worse the needed some re-assurance but the phone counselor obviously couldn't see the patients face. So all in all they came to me for personalization. The true key to personalized medicine.

The Sherpa Says: Stay Tuned to Scienceroll. I know I visit his blog everyday. The talented Dr Mesko has the most cutting edge information on this fast moving topic. He is my own personal Sherpa. By the way, make sure you vote, there are 4 days left. It's all tied up. "How much is a Sherpa worth to you?" Some of my readers feel like they could take a course to be a sherpa, Others already are Sherpa's, some are looking for a sherpa, and the last want to climb Mt Everest with 1 cleat, a windbreaker, and Wikipedia as their guide. Which are you?

Congratulations...Sort Of....

For those of you who had no internet/tv/WSJ access this week (But how could that be if you are reading this post?) Navigenics, the DTC genomic testing company has officially launched. 11/6/07 (Funny, my lucky number just happens to be 24) What they offer is pretty decent

From the WSJ

"The company believes people will want to take the $2,500 test when they're healthy, and then make lifestyle and other changes to avoid or delay disease. Results, which will be posted on a Web site that customers access with a password, will tell consumers their risk for more than 20 conditions, including diabetes, obesity, prostate cancer and glaucoma"

Not a bad price for 20 genetic tests. Who gives the counseling? Navigenics can. Will this replace high priced tests like BRACAnalysis? Maybe. But here is DTC testing's Achilles heel.

New York State has laws on medical privacy, genetic privacy, and human subject protection, making it among the more restrictive states for the conduct of research or genetic testing.

New York prohibits the conduct of “genetic tests” without the prior written informed consent of the individual. A genetic test is defined as:

“…. Any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or the individual’s offspring; such term shall also include DNA profile analysis. ‘Genetic test’ shall not be deemed to include any test of blood or other medically prescribed test in routine use that has been or may be hereafter found to be associated with a genetic variation, unless conducted purposely to identify such genetic variation.”

According to the statute, prior to a genetic test, individuals must be notified, individual authorization must be obtained, and specific elements must be incorporated into the informed consent form including: a general description of each specific disease or condition tested for, the level of certainty that a positive test result for that disease or condition serves as a predictor of such disease, the name of the person or categories of persons or organizations to whom the test results may be disclosed, and a statement that no tests other than those authorized shall be performed on the biological sample.

Bottom Line- A separate consent for each disease which is tested for!

For clinical genetic tests, the informed consent must state that the sample shall be destroyed at the end of the testing process, or not more than sixty days after the sample was taken, unless a longer period of retention is expressly authorized. New York law requires individual authorization for sample retention for up to ten years if no genetic testing is performed; however, informed consent must be obtained prior to the conduct of genetic tests. Retention of a DNA sample past a period of ten years requires explicit consent for a longer or indefinite period of retention.

Bottom Line-A separate consent for DNA Banking

So what does the written consent look like? I wonder what dream team of lawyers have debated these issues. This is not the first time laws to protect the patient were devised. Back in 1997 we had some similar arguments.

In addition to the thoughts of individual consents for zillions of "possible" tests. Who constructs consents for tests never conceived? I imagine you will have to review the DTC testing legislation in each state. A nice review is here at Hopkins.

In my states (CT, NY) we have many prohibitive laws....

From CT

Regs.Conn. State Agencies §19a-36- D29(a)

Regs., Conn. State Agencies §19a-36-D32(a)

Laboratories may accept specimens only upon request of licensed physician or other persons
authorized by law to make diagnoses. Laboratories may report findings only to the licensed provider that ordered the test. Laboratories may provide results to lay persons upon written request of the provider who ordered the test. An official at the Connecticut
CLIA Laboratory Program confirmed that DTC testing is not permitted.

New York?
N.Y. Pub Health Law § 576-b N.Y. Pub. Health Law § 577 10 NYCRR § 19.1(j) 10 NYCRR § 58-1.7 10 NYCRR § 58-1.8 10 NYCRR § 63.3(e)

In general, tests may be ordered only by licensed physicians “or other persons
authorized by law to use the findings of laboratory examinations in their practice or the
performance of their official duties.” Consumers are not listed among those
authorized. Test results cannot be sent directly to patients except with written consent of the
physician or authorized person, except blood type and RH factor can be given in writing to
the patient without written consent. DTC testing is permitted for tests that have been
approved by the Food and Drug Administration for direct, over-the-counter sale

to consumers. An official with the New York State Department of Health confirmed that
DTC testing is not permitted, other than for certain tests relating to the blood supply, such as HIV and Hepatitis C tests.

The Sherpa Says:

Congratulations Navigenics....I look forward to the hordes of lawyers, genetic counselors, and States' Attorney Generals. More importantly, this should serve as a wake up call to all DTC testing companies playing around in CT and NY. Consider yourselves warned! DTC testing in these states is Illegal! Luckily at Helix Health of Connecticut there are trained physicians and counselors skilled at guiding you through the testing process. In the offices in Greenwich or New York, Or through our home visit service. You get the best of both worlds, testing AND counseling!

New Gene in Sudden Cardiac Death!!!

I have always had an issue with genetic testing in sudden cardiac death. A significant proportion of patients come up with "negative tests" Does that mean the patient and her/his family is not at genetic risk for sudden cardiac death? No....and now we do know there is another gene.

The gene is called GPD 1-L. Why is this gene important? Several reasons.

1. While not an ion channel (Which are the majority of Sudden Cardiac Death Genes) itself, it is a trafficking gene that allows the sodium channel to find its way to the cell membrane. Therefore the "channel" doesn't work properly. This has been known in LongQT syndrome and now Brugada Syndrome Many diseases have tricked us by these pathway variants, I can think of several modifier genes/polymorphisms in cystic fibrosis that can be missed on routine carrier screening

2. "we suspect that the function of the native GPD1-L gene and the mutant are influenced by oxidative stress, a process which interferes with the body's natural ability to repair itself from antioxidant assaults" Interestingly, smoking parents have been linked to SIDS deaths for quite some time now....This could lead to our finally understanding why on a given day someone who has this loaded gun can actually display the deadly arrythmia (funny heart beat)

3. This new discovery will help to identify those at risk of the >250,000 deaths each year from sudden cardiac death

The Sherpa Says: The evidence behind this link is solid. It is truly an identifiable cause of arrhythmia. Now if we could only get Familion to charge less than 5000 USD for this set of screening tests.....Perhaps we may be able to elucidate who will benefit from the device known as an Automated Inplantable Cardiac Defibrillator and who will not. Perhaps oxidative stress is the key linchpin here. Therefore, maybe by not smoking, taking antioxidants, avoiding oxidative stress we can prevent some of the 250k cases of arryhtmogenic death. Time will tell.

PubMed Halloween

In a neat turn of events I veer from Personalized Medicine and instead make note of a few Halloween Genes

The insect Halloween genes encode the terminal cytochrome
P450 (P450) hydroxylases mediating the biosynthesis of
ecdysteroids. Mutations disrupting these specific P450
steroid hydroxylases in Drosophila result in morphogenetic
abnormalities such as failure of head involution and cuticle
formation, leading to embryonic death.

How's that for Spooky...oh wait, that's a gene too. The problem here is that the scientists who named these little buggers never thought about how a person would feel if we had to say "I am sorry, your child has a mutation in the Halloween Genes" Say wha????

There are orthologues of these genes in humans. I ask all researchers to think twice. Because, frankly I am sick of saying Sonic Hedgehog to families.........