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.

New Family History tool to Debut

It's as if everyone in the technology land had been hearing my cries!

"Family history is the cheapest and the best whole genome scan we have!!"

The Government fixed theirs others are working on it as well.......

With the potential in ancestry companies to turn their tools into family history gathering machines we are now seeing a big shift in focus from merely ancestry to ancestry AND medical history. One great tool that is coming comes from a website called ItRunsInMyFamily.com

And like every self respecting entrepreneur looking to boost SEO, they have started a blog.

But what's even better, they beat me to the punch when comparing genetic testing versus family history...

They pit them head to head.....

From the blog:

Breadth of Diseases
Over 6,000 known single-gene disorders. (This does not include multi-factorial diseases) “Every human disease has a genetic component.”

Family History: Can track an unlimited number of diseases. Any disease that has an inherited or genetic component can be listed on a family health history.

Genetic Tests: ~1,000 clinically relevant genetic tests available today. Most are for single-gene disorders, few adequate genetic tests are available for multi-factorial diseases. Direct-to-consumer (DTC) genetic testing services (# of diseases): 23andMe (26), deCODEme (35), Navigenics (23), Myriad BRCA (2).

ADVANTAGE: Family History

The result?

You'll just have to read their post!

The Sherpa Says: with all of these fly by night and limited clinical utility genotech companies out there, it is sure nice to see someone with good business AND Clinical sense!!!

Beware doctors bearing genetic tests!!!!

Today I am back on the soap box.
But I will also give a little worthwhile and scary data as well.
Yesterday I was at a cocktail party for the physicians in my upscale new england/new york town. I was speaking with an "educated" gastroenterologist. In fact this physician has been in practice for 29 years, went to medical school at Cornell, and is now part of a large practice in suburban NY. He told me that some "lab reps" from Myriad were now going to offices of Gastroenterology, Hematology/Oncology, and Primary Care physicians extolling the benefits of genetic testing for cancer predisposition. This physician said that because of this they are now testing younger patients for Hereditary Non-polyposis Colon Cancer/Lynch Syndrome
He went on to talk about a 37 year old woman who had early polyps, was tested, and was positive for a mutation in a DNA repair gene called MLH1. I told him that was great. Then I asked him who he uses for genetic counseling. His eyes glazed over, seeming not to understand the question. Slowly as if to save himself he said "What does she need that for? She's not having any kids." OMG, I almost lost it. Slowly I said "If you fail to counsel a positive test result, you will get sued." Then his eyes lit up "I better go tell her to get counseling" he said.

• Beware non-genetic doctors bearing genetic tests. 1 in 3 misinterpret tests for colon cancer.
• GI doctors maybe more likely to elicit cancer history in the family, but are less likely to notify AT RISK family or even let the patient know family is at risk
• In my education study that I will be presenting at the Association of Program Directors in Internal Medicine in San Diego I found some scary things as well.
• Residents in academic and community programs consistently fail genetics knowledge exams
• The confidence of an Internal Medicine resident physician in performing family histories is inversely proportional to their performance on knowledge exams!
• Physicians in practice now are even worse than the training physicians today
• But the scary thing is, the ones who have the confidence to DO genetics, actually have no knowledge in how to do it correctly.....That's why we need gene sherpas.