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.

You Know It's Bad

You know you are in for a grilling when the SACGHS says......"While we laud you for coming to participate in the conversation, part of that participation means that you may not like what you hear(More or less quoted from the webcast)"


Then in an "Interesting" Move.......

They ask "Would you be willing to sacrifice your bottom line to offer these services at say 100 USD?"

Wha???? This is such a crazy question.....This Assumes that the data they are presenting is valid, actionable and worthwhile....... All of which.....are debatable...AND that the public would want such services....

What am I talking about? I am talking about the opening of the 30 minute interrogation that was the end of the SACGHS meeting

They even asked the question "Do you have an IRB for all this 'research?'"

The response.................."We're workin on it"

Well, not really the end.....That was reserved for clean up hitter Kathy Hudson...(Whom, BTW I think is brilliant)

Her slide set covers some very key issues and the presentation did as well....

She even manages to quote Joseph Schumpeter, elegantly...

Schumpeter thought that the institution enabling the entrepreneur to purchase the resources needed to realize his or her vision was a well-developed capitalist financial system, including a whole range of institutions for granting credit.

This is very true, but what she quoted him on was this....

“process of industrial mutation that incessantly revolutionizes the economic structure from within, incessantly destroying the old one, incessantly creating a new one.

I.E. Let's destroy the Healthcare System via DTC Genetics.....Interesting....I wonder how the committee of healthcare players liked that slide? I wonder if anyone mentioned his other theory where advanced capitalism doesn't allow entrpreneurism to flourish because of regulations and the creation of a welfare state. Hmmmmm me thinks not...

When looking at the concerns, this slide explained them pretty well

Concerns About DTC Marketing
• Consumers can’t understand genetic information; it is complicated.
•Consumers vulnerable to exaggerated claims.
•Consumers may get tested without adequately considering consequences to themselves and family
•Consumers may forego standard treatments or make dietary or lifestyle changes without proven benefit
• Consumers may seek and receive unneeded and costly care

Companies may not adequately protect privacy of genetic information
•The tests that are offered may not be valid
• The laboratories that perform the tests may not be competent
• Test claims unsupported by evidence
• Inadequate protections for research participants
•No legal barrier to surreptitious testing of another

She Says the Options are

• Let the Buyer beware
• Demand transparency: information as
  the antidote
• Require third party review of accuracy
  and safety
• Take action against false claims
• Create a category of OTC LDTs
• Expand HIPAA
• Expand common rule
  

I personally think there are many more...And I am workin on that!

The Sherpa Says:

When speaking anonymously with a panelist they said...."It was surprisingly tame" When speaking anonymously with SACGHS attendees they said "This spells the end of unregulated DTC" So it sounds to me like the 2 sides may be engaged in a conversation where no one is listening to each other.......Or the may not be communicating effectively......

A$$ Kicking

Whoah! I never thought that my blog would generate such response! I received over 100 emails today. Guess what. In a near 50/50 split they were pro or anti regulation. Some were so nasty and hate filled I began to question why I was even blogging about this. Luckily, none threatened my pets or family! They even asked me whose side I was on. I think I have been pretty clear on this one. I am on the side of safe and effective personalized medicine. That's the only side to be on. I am FOR the Genomic Medicine revolution. I am against anything that will hinder its' development. Some of these fly by night companies have been doing just that for years now!

So I must sit back and look over the landscape. I knew this is where we were headed. Maybe we need a refresher course in history to understand why it did not start with 23andME, they were merely the straw that broke the camel's back.

1994

-Scientists isolate BRCA-1 Including my new friend Ken Offit

-JAMA publishes article on the psychological harm of genetic testing

-The Human Genome Project is in year 1

-The UN Draft articles stating:
Article 17 (Tests predictive of genetic disease)
Tests which are predictive of genetic diseases or that may identify a genetic
predisposition to a disease may only be performed for health purposes or for scientific
research linked to health purposes.

-The LA Times asks "Can We Know Too Much?"

-O.J. Simpson trial involved Genetic Testing

The results? Genetic testing is risky....

1995

-Enter Francis Collins Testimony to Senate Including him not endorsing BRCA testing YET! Awaiting further study validation!!!

-GINA is introduced in congress by Louise Slaughter, she heard what Francis had to say. Further validating the risks in genetic testing.

-The government creates TFGT, out of the Human Genome Project

1996

-ApoE testing is now commercially available, despite limitations in predictive capabilities.

-The New England Journal of Medicine validates the risks of genetic testing

Worried patients, encouraged by overly optimistic claims by researchers, biotechnology companies, and the media, may want to have genetic tests performed whose validity has not been established.

Truly Prescient!

1997

-NY Times exposes doctors shortcomings in interpreting Genetic Tests! Unfortunately, little has changed.

-Francis goes back to the Hill.

-NIH encourages CF screening for pregnant women.

-GATTACA Debuts! 4.3 million dollar weekend. The review? Older children with a taste for science fiction should find it intriguing.

-The Seattle Times cries for regulation of this fledgling industry. It's coming....in 11 years

-The European Convention on Human Rights and Biomedicine” convenes and article 12 states

Tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counselling.”

1998

-President creates SACGT, The Secretary's Advisory Committee on Genetic Testing (Let the regs begin!!!)

So I am done doing blow by blow....

2001

-Psychiatric issues of Bad Results reinforced

-American College of Obstetrics and Gynecology endorses CF carrier screening for all pregnant women. Making carrier screening "Standard Medical Care"

2002

-Gene Watch UK advocates for regulations of nutrigenomic testing and bogus tests

-First Insurer to encourage coverage for genetic testing, AETNA. Too bad they don't pay for the counseling (Yet)

-JAMA sounds off on DTC genetic testing. Of Myriad

-UK and the BBC expose the bogus testing industry. And push for regulations.

-Despite all GI doctors taking family history only 30% knew there was genetic testing for Lynch Syndrome....sad

-Australian Medical Association reinforces genetic counseling with testing.

2003

-Ryan Phelan enters the field, with DNA Direct

-SACGHS is formed. It is much more expansive than just reviewing testing

-CLIA is needed for testing.

-The FDA says it needs fangs.. Asking the gov't for these teeth!

2004

-Amy Harmon (Now Pulitzer Prize winner) Starts covering the topic with DNA Age

-EU met and issued 25 recommendations regarding genetic testing INCLUDING Rec 8
the appropriate medical environment for providing information prior to
testing and relevant post-test counselling be in place prior to offering such
screening

-CDC holds their first short course on this genetic testing.

2005

-HFE testing for iron overload is doubted in NEJM. ONLY 20-30% of those with HFE genes develop Hemochromatosis. Genes aren't everything!

-Pew Trusts calls on stronger regulation by CMS. CLIA Complies

2006

-DNA Direct speaks at SACGHS, they are further convinced of the need for regulations.

-Kathy Hudson's group accuse the Federal Government of Neglect in regulations. Their back is now offically against the wall.

-The Genetic Alliance jumps on them too!

Ok, Maybe Not Done with Blow by Blow......

2007
-The Sherpa Starts Blogging! Day Zero for the blog. Year 13 for the Sherpa!

Who in their right mind would open genetic testing companies in this environment?

-Reykjavik Does....wisely avoiding the CLIA trap!

-BOOM! Google does too!

-Helix Health of Connecticut starts, quietly.

2008

-The following bogus DTC tests are available: Hair Loss, Sexual Mate, Bipolar Disorder I won't go on.

-Dept of Health and Human Services weighs in. With 276 pages Is that enough writing on the wall?

-Not enough, Navigenics then Launches. Party in SoHo anyone? Although the leak was evident in 2007

-NYS investigates and warns the "Big 3"

-CA sends cease and desist letters

Failure to regulate your own industry only gets you governmental regulation. Failure to investigate the past dooms you to the mistakes made in the past. I am still blown away about the lack of consideration for what the government can do and will do.

The Sherpa Says:

Since I got my a$$ kicked by some of my wonderful readers. I reassert. I am on the side of the Genomic Medicine Revolution. In the most ethical, responsible and effective way possible. End Of Story. I am about "Do What's Right!" My father taught me that a long time ago. Now you just saw what I see. That'll be 20k please ;)

SACGHS?

Sorry for the short post but I wanted to get this out to you. The Secretary's Advisory Committee on Genetics, Health and Society has released the agenda for its March 26th and 27th meeting. What is the SACGHS? Well, it is a group of doctors, scientists, lawyers, ethicists, etc that have been asked to serve the Secretary of Health and Human Services. They advise HHS on genomic matters. In other words they help shape policy. As a matter of fact they played a big role in the GAO investigation into DNA Direct, and other direct to consumer testing sites. I'll bring the transcripts as soon as the meeting is over. Have a good weekend.