Death Knell to DTC Genomics?

I was sent this article 6 times in the last 6 hours by friends and colleagues.

What's the article? "Genes Show Limited Value in Predicting Diseases"

I say deathblow to the DTC Genomics, because this article points out the issues surrounding using this limited information......

"This method, called a genomewide association study, has proved technically successful despite many skeptics’ initial doubts. But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases."

What are the majority of reports you can get from 23andME or Navigenics or DecodeMe?


Reports which rely on "GENOMEWIDE ASSOCIATION STUDIES"


Not that there aren't any great genome wide associations......I think of Age Related Macular Degeneration for one.......but for every great study, there are 20 crappy studies. Which, to the unskilled observer could be made to look just as powerful. And then Silicon Valley Style Hyped, to make it to market.


I repeat, the utility of GWAS studies in Public Health NEED to be studied. Just like they are with the Coriell Personalized Medicine Collaborative.



But selling this information to people at a cost of 400 to 2500???? Sketchy at best!

From the NYT article...

"These companies are probably not performing any useful service at present, said David B. Goldstein, a Duke University geneticist who wrote one of the commentaries appearing in the journal.
“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Dr. Goldstein said in an interview. “The information has little or in many cases no clinical relevance.”


Which is why I am aligning myself with some good People from Long Island who have been shouting this from the rooftops for about it.

A great example is this perspectives article precisely about this topic in the New England Journal of Medicine this week!!! (Only 3 this time Daniel)

Useless DTC Genomics? Not exactly. Someone is making money and has some use for it.......


The Sherpa Says: A good clinician saw this coming from a mile away. Why couldn't Venture Capital? Or the Public? Or the Scientists???? Funny, I just gave the same lecture to medical underwriters for the life insurance industry on the 14th,,,,,,

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".

Finally!

Finally our headquarters are being built out. After 2 months of fighting with the Town Hall we are slowly moving towards our new HQ. We will be in NYC for sure, but our HQ will be located in Connecticut. HOORAY!!!

A week away.

It really is amazing how a week away from things can help bring clarity to what is important in personalized medicine. So often I find myself getting wrapped up in what the press has botched or what PR firms have planted into "news"papers only to be further convinced that the press is dying a slow death relying on these PR types to fill empty space on the pages of their prints.....

So what is important to personalized medicine and its future? I have come up with a short list. Including a question to spark your thoughts.... For those business types who read this blog.....maybe you have been thinking about a startup....here's your chance.

1) Patient Centered Tools that matter.

Everyone ooooowed and awwwwed at these at home spit kits as a means to gain insight into one's innards......but that is a load of $h!t. The best tools include things like at home BP monitoring, Glucometers, and access to clinically validated risk calculators, like the Reynold's Risk or Framingham risk calculator for Heart Disease or the UKPDS and CDC diabetes calculators

Even with these things, who will teach patients how to interpret them?

2) Access to physicians who get it.

This may seem like a no-brainer, but with 2% of the most recent graduating medical school class going into primary care and nearly a third of PMDs contemplating retirement, we could have a big problem. Some solutions include NPs and PAs, but they will both tell you emphatically that they are not trained like an internist/pediatrician/OB/FP is...... We could have a huge problem delivering care in the next decade if we don't fix this problem.....no amount of at home tests will allow you to prescribe Benicar to yourself...That being said, most doctors don't get this field either, so we have a double shortage coming up.......How can we fix that?

3) Patient Centered Communications with your physician.

Yes, we have a guy like Jay Parkinson M.D. out there twittering about what clubs he's at or what patients location he is at, but I am talking serious communication, like email consultations, telemedicine services, etc. Yes, I am certain Jay does that too....but we need a whole lot more of this: "Email to keep you healthy and OUT of the doctor's office." Unfortunately, most 80 year olds don't have email, let alone twitter.....How do we help the elderly???

4) Presymptomatic Tests that work.

Yes, finally, we need genetic testing done in a smart way. A way that affects patients directly, by helping them get the right drug or find their risk for disease. The other day I was giving BRCA results to a patient, she initially was in tears, devastated by her results. When I reminded her that she didn't have disease, she was healthy and going to live a long life AND HAD INSIGHT INTO HER GENETIC RISK FOR CANCERS........AND HAD CLINICALLY PROVEN OPTIONS TO PREVENT IT.......Emphasis on the last part........She walked out, head held high and felt very empowered.....By having all the DTC tests in the press, we often forget that there are a whole class of clinical tests that have some of this capability. We NEED more of these tests to bring this to fruition.....and it doesn't just have to be DNA......it could be radiology, or protein, or even just a DAMN GOOD FAMILY HISTORY.....

What happens when we can't get these things????

5) Medicines which are paired effectively with tests which identify who these drugs will work for.

After my round table with Aidan Power, I took away a great point he made. "We need to classify disease properly if we are ever to expect targeted treatments for these diseases"

I think that's roughly what he said in his Irish Accent.....

How do we effectively classify diseases? How can we do it quicker?

These are in essence, the blocking and tackling of Personalized Medicine. There are a lot of other nuances....but without these, this flower known as personalized medicine will die on the vine rather than bear fruit.

The Sherpa Says: Notice I didn't say 1) 100 USD genome scans 2) DTC SNP Scans 3) Social Networking sites 4) Preimplantation Genetic Diagnosis 5) an Electronic Medical Record.....

Why? These are the things being hyped in the press, but they are the furthest from the basics of personalized medicine.....Yet in the forefront of most of the publics thoughts about personalized medicine.

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.........

April Fools

So here come the insults.......

Do you really think I could be bullied? Just Google me.........

I will never stop being the counter point and the system of checks and balances.

Rest Easy....or Uneasy, depending on who you are.

-Steve

p.s. Do you think Kari would align with me??? At least Somali's would.

Sherpa's Farewell

I am afraid that my time here is shortly coming to an end. I am writing today to say goodbye. Why?


Like Joe Black said.....




"It will be revealed in due time."





I can no longer blog. I started this blog nearly 2 years ago to educate people on the promise of personalized medicine. I have helped point out some shortcomings in the medical system and the medical education system. I have complained about medical fraud, uneducated providers inappropriately ordering tests, malpractice, genetic counselors acting like physicians, physicians acting unprofessional and even acted unprofessional myself a time or 2.



I have pointed out impartiality in the press. I have indicated the lack of journalistic integrity that pervades the system.


That being said, my last year has been especially hard on corporate genomics. I have railed against research done on subjects without IRBs, I have complained about illegal activity with the promotion of tests in states whose laws forbid such testing, I have gotten pissed about the manipulation of vulnerable subjects and the despicable acts of using a spit kit to collect a child's sample against their will or without proper consent. I have laughed about the way in which these companies pretend to be medicine without taking any of the responsibility. I have even told you that these companies in their current incarnation will hinder personalized medicine's growth.


It is with that clarity, honesty and vigilance which I have been brought to a screeching halt.





These companies have way more money and power than I. They will continue to fill the echo chamber with platitudes of their superiority. In the end, they will convince you that they were the saviours of medicine, when in fact all that they did was pay a PR firm millions of dollars to sell you on the "next big thing"


I despise when a scientific study is hyped, but I understand why it is. The work is often the life's work of that scientist, who often has no ability to clinically translate it. But these companies took these scientists' work, they jumped the line and are using non-clinical science and making insinuations that it could be used in a clinical manner without nearly any more than 2 years of work.


It is precisely because of my warring against these tribes that I have to say goodbye to blogging. They have more money AND more lawyers......


The Sherpa Says: Goodbye blogosphere, Goodnight and Good Luck.