Friday, January 16, 2009

Personalized Genomics a Critical Review!

I just want to point everyone's attention to a great meeting that happened in December. I wish I could have been there. I still maintain to this day that Personalized Medicine does not equal personalized genomics.

In fact, in an interview I gave to Berci Mesko at Scienceroll, I talk about the differences between personalized medicine and personalized genetics. The scans are a tool we can use (maybe) for personalized medicine, just like all the other tools we have....

This meeting which was held by the CDC and NIH was for the sole purpose of reviewing Personal Genomics.

This 2-day workshop, cosponsored by CDC and NIH, explored the type of scientific foundation that is crucially needed to make the promise of personal genomics a reality. The workshop participants examined how the integration of genomics into personalized health can follow an evidence-based process. The process for using genomic applications in personalized healthcare (e.g. pharmacogenomics, early detection markers, testing in clinical trials) was discussed.

A few of my contemporaries were there and presented. I was excited to be able to see all of their slide sets out there. Thanks to Ken Offit for including my clinical presentations in there. We were certainly surprised at Helix Health of Connecticut to see such cases!

One of my favorite sets was by Dr Gregory Feero, a Family Practitioner and PhD who brings a primary care perspective to the group. He hit the nail on the head.

MD geneticists represent 0.18% of the 700,000 physicians in the U.S.

We identified only 1 RCT of a genetic testing intervention for a common condition that measured a clinical outcome -Scheuner JAMA

gizmo idolatry refers to the general implicit conviction that a more technological approach is intrinsically better than one that is less technological… Many gizmos make so much sense, in the absence of evidence or even the presence of evidence to the contrary, that their value or utility is persuasive prima facie."Leff and Finucane, "Gizmo Idolatry"

-JAMA, April 16, 2008

Finally, the industry pulls the veil back on how they calculate risk profiles.....imagine, someone sold the Venture Cap on some magical proprietary way to calculate risks.......

Well, here they are: Slides from the Big 3. They reveal how each one of them calculates risk......finally some transparency. Any VC who thought this was patentable/protectable is a sucker......It's medicine fellas!

At last I ask you to scroll back up the page and take a look at that slide. This slide is by Steve Teutsch, Chair of the SACGHS. That is where we are with Personal Genomics.....not personalized medicine mind you......Personal Genomics......

The Sherpa Says: Do you think the press has a case of Gizmo Idolatry????


Berci Meskó said...

Here is the url of the interview, Steve:

RWW said...



Steve Murphy MD said...

Yes, sorry about that. Thank you!

@RWW......AWWWW you are gonna make me blush.....thanks!


Andrew said...

Great post, thanks Steve.

Also, check out Google Docs for hosting PowerPoint slides directly in the webpage. (I'll show you this later)

Anonymous said...

Why not start a new training program called "Genomic Internist?" This would be a Master's degree level training.

Combine the training of a PA and GC together.

Year 1 (all the same courses that medical students and PA students take):

First semester:

Medical Anatomy
Medical Histology
Medical Biochemistry
EKG Interpretation
Physical Diagnosis
Introduction to Medicine I

Second semester:

Medical Neuroscience
Medical Physiology
Medical Pathology
Medical Pharmacology (or Pharmacotherapeutics)
Introduction to Medicine II
Clinical Procedures

Year 2:

First semester:

Genetic Counseling Principles
Quantitative Risk Analysis (combined with genetic testing principles)
Human Genetics (molecular emphasis)
Clinical Genetics
Biochemical Genetics
Human Cytogenetics
Cancer Genetics
Embryology and Teratogenesis

2nd Semester:

Biochemical Genetics Clinic
General Genetics Clinic
Muscular Dystrophy Clinic
Bone Dysplasia Clinic
Laboratory Sites (cytogenetic, molecular and newborn screening)

Second semester:

3rd year (Clinical rotations ---12 total months):

Hematology/Oncology (1 month)
Cardiology (1 month)
Ophthalmology (1 month)
Obstetrics-Gynecology (1 month)
Internal medicine (1 month)
Pediatrics (1 month)
Family medicine(1 month)
Neurology (1 month)
Clinical genetics (4 months)

This person can work with several clinical departments to review patients for genetic conditions, do a family history, order tests, interpret tests, perform physical exams, and diagnose patients with a genetic disorder.

Allow for a bridge program with GC and PAs and train a new professional into the field of genetics and medicine.

There are too few clinical geneticists, PAs are not trained in genetics, nurses are not trained in genetics, GCs lack the medical training to go along with the genetic knowledge (it would work best to expand the GC courses and clinical training and do similar work as the clinical geneticist does), and doctors just don't have the time to do a family history and do risk calculations to go along with everything else they do.

Medical school training lacks genetic education, PA school has no genetics training, nurses are not trained in genetics, too few clinical geneticists, and the training for GCs is outdated and too limited.

All of medical training is outdated and no career path combines genetics and medicine (beyond a clinical geneticist) to the point where they can be knowledge leaders in the clinic and hospital setting.

So why not start a new profession that combines the medical training and genetics training.

Start a pilot program at some university with an agreement with a local hospital/clinic that guarantees the person employment at the end of the program.

If all genetic-related late onset disorders, such as hypertension, diabetes, certain cancers and
psychoses in addition to the adult onset neurodegenerative inherited disorders are accounted for, greater 60% of the worlds population will be affected with one of these conditions during their lifetime. It is time to step up to the plate and develop a new training program.

Steve Murphy MD said...

This is something I approached the president elect of the ACMG about. He was interested, but wanted to make sure we didn't replace geneticists or counselors.....

I think this is the big problem. If theoretically every disease has a heritable component that is conveyed by genes or epigenetics, then it is something the geneticist will want to be involved in.

So, in essence you would be replacing them in some aspects. That's the problem, 0.18 % of doctors have a choke hold on genetics and don't want to give it up......

I understand why. Those with genetics training, full or partial understand things that others don't.

The real question is,
"why doesn't everyone have some genetics training?"

I don't think you need another subspecialty, just some more training...that's all.

No one is looking to "steal" LCHAD patients, we are just looking to have adult doctors take care of adult disease, I don't see anything wrong with that.

So we need to work with genetics groups, taking their "potential" referrals and convince them we won't put them out of business....

Tough things to do. Just look at the shellacking I took from the NSGC (who BTW, will never support this initiative) Unless CGCs are the center of attention....which we both know is the least attractive of the solutions from a manpower perspective..

But, it IS a great idea.


Anonymous said...

I see. Just have some PAs get certificates in clinical genetics (Simmons College has one that can be done via distance education) so they can help screen for genetic conditions and they can refer the patients to genetic departments.

Anonymous said...

“The AAPA believes that practicing physician assistants
should be aware of the advantages, limitations, and dangers of
testing for human genetic conditions. They should be
knowledgeable about the basic elements of a genetic test to
ensure their appropriate use. PAs should be familiar with
appropriate methods of genetic counseling and the legal and
ethical issues involved in the practice of human genetic
testing. They must be able to differentiate between genetic
disorders they themselves can diagnose and manage and those
that require referral to a genetic specialist.”