The Holistic Genome

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Archive for the ‘personalized medicine’ Category

The low hanging fruit in the garden of good and evil.

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low hanging fruit

low hanging fruit

I have been told that cancer genetics is the ‘low hanging fruit’ of personalized medicine. 

I have my reservations about this analogy.  As you all know, I am a big proponent of personalized medicine.  And I also remain optimistic that personalized medicine will be a fruitful and rewarding endeavor.  However, part of me is concerned that we are like ants picking away at the fruit of the tree of life.  This sacred tree that hold the source code of life, that which holds our very identity… that which make us unique.  Perhaps we should be more mindful of our actions and how we conduct ourselves during this technological adolescence.  Sometimes, I think that the Genomic era is much like a modern day Gold Rush with everyone climbing over each other in a mad dash to stack their claim to the bounty. 

By seeking the true knowledge of ourselves within our DNA, we seek a deeper understanding of ourselves and our place in the Universe, both from a Darwinian as well as a spiritual viewpoint.  To this end, we should remind ourselves to walk uprightly, square our actions and walk confidently in this garden of good and evil motivated by the search of truth and not by material gain.       


Written by Jonathan Holt, DO

April 20, 2009 at 11:44 am

Mercerism and the pursuit of knowledge

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Much like the plight of Wilbur Mercer or Sisyphus, I have been faced with a challenging uphill-battle in my pursuit of knowledge and enlightenment.  Much like Wilbur Mercer, I feel like I am being pelted with stones as I struggle uphill only to have the struggle recur over and over again.  More recently, I have had to wait out a powerful financial storm that has temporarily halted my accent of the sacred mountain of knowledge.  As such, I have plotted an alternative course to better prepare me for this task.  

The pursuit is a noble one and its rewards are open to all those who seek it. This journey has truly been character building. However, I have come to realize that it is not without its sacrifices and difficulties. It is true that Personalized Medicine is gaining popularity. Even President Obama administration has a plan that hopes to modernize our use of electronic medical records and personalize medical therapies.

Personalized Medicine really does have a chance of revolutionizing the way that we practice medicine. I honored to be accompanied by others who seek the knowledge and experience to usher in this new paradigm of personalized medicine.

I am hoping that once I climb this sacred mountain that I will find the old wise man who will be able to impart wisdom and knowledge onto me.  Perhaps, I will find myself alone at the top, only to realize that the wise man that I sought is really myself.

Written by Jonathan Holt, DO

March 15, 2009 at 9:21 pm

Hope vs Hype

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istock_000007147254xsmallThe era of Personalized medicine using genome technologies is upon us.  Is it all just hype or is there really hope that these technologies will help us usher in the promise of true personalized medicine?

Dr. Charles Epstein is a great guy and one of my mentors during my training program in Medical Genetics at UCSF. (Incidentally, he was originally trained as an internist before leading the field of Medical Genetics).  He gave a wonderful summary of the dilemmas facing the future field of medical genetics during his presidential address to the American College of Medical Genetics in Orlando, Florida in 2004. It is summarized in Genetics in Medicine – July/August 2004 issue

He channeled Yogi Berra who said, “It’s tough to make predictions, especially about the future. . . The future ain’t what it used to be.”

Traditionally, medical genetics was a clinical fellowship after a residency in pediatrics.  It dealt with congenital abnormalities (dysmorphology), birth defects and inborn errors of metabolism.  Charlie Epstein saw how our field needed to grow and evolve to confront the emerging field on personalized medicine and risk assessment. Subsequently, he was instrumental in changing medical genetics from a fellowship to what is now technically a separate residency.  He recognized the growing need of the field to “..skate where the puck is going to be, not where it has been.”

On the dilemma on who should lead this emerging field of personalized medicine, he said,

“… how do we strike the balance? If genetic testing and risk assessment develop in the future as I expect that they will, primary care physicians and specialists will undoubtedly be involved. In fact, they will have to be, as they, especially the primary care providers, will be the ones caring on a long-term basis for those who are tested. However, the primary care physicians and specialists will need to have people to turn to, and I think that needs to be us, the genetic professionals—not just as educators, but as active participants in the process. We are the ones who know genetics and how testing is done. We are comfortable with family histories and probabilities and with counseling and decision-making. We are already doing genetic testing and risk assessment. “

He argues that “just as infectious disease knowledge and tools by primary care providers did not eliminate, but instead elevated the importance of the infectious disease specialist.”

Myself, I am obviously hopefully optimistic that with the right guides we will find our way.

Written by Jonathan Holt, DO

November 18, 2008 at 11:25 pm

Trust me – I’m a doctor !

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trustWho do you trust with your genetic information?

  • Do you trust sending it via email or instant message?
  • Would you post it on the internet, like some have?
  • Would you trust Google with it?
  • What about companies like 23andme or Navigenics?
  • What about your spouse?
  • What about your Doctor?

Genetic testing information has grown tremendously. But how do we incorporate it securely into clinical practice so that it is portable and fluid?

Towards the practice of personalized medicine, we will need to have ready access to an individual’s genetic information to drive the clinical decision making process.

A Survey of 1,199 Americans by the Genetics and Public Policy Center suggest that patients trust their physicians most with their personal genetic information and their employers and insurer the least. Incidentally, while patients who were surveyed trusted their spouses ‘a lot’ more, they chose their physicians more often.

Congress, has passed the Genetic Information Nondiscrimination Act (GINA), which prohibits health insurers and employers from asking or requiring a person to take a genetic test or from using genetic information to set insurance rates or making employment decisions. This is the first step.

But how secure is your genetic data and whom should you trust with it?  What is the next step?

Written by Jonathan Holt, DO

November 16, 2008 at 1:02 pm

primum non nocere

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primum non nocereBeing back at the Burrill’s Personalized Medicine Conference in San Francisco again this year has rekindled my passion to start a blog.  As, I have now a growing medical practice I have been encouraged to start blogging again by a number of people in attendance, including Steve Murphy, David Ewing Duncan and Aaron Rowe.

One of the things that really jumped out at me this year, was the need to prioritize our approach to Personalized Medicine.  I think that we at doing much better at defining what it means and I think that the next logical step is to decide what to do first.

Thus, I am guided by the foundation of my medical training.  During my first year of medical school, all medical student go thru the white coat ceremony and make an oath to the art of medicine.  Included in this oath, is the dictum “primum non nocere”  or “First, do no harm”.

Did you know that in the United States that are about 100,000 deaths every year as a result of medical errors?

While Steve Burrill defined the priority of Personalized Medicine as given the right drug, to the right patient at the right time, I believe that our first priority in the medical community should be to start defining the WRONG DRUG to the WRONG PATIENT at the WRONG TIME.

Ergo, my research priority is in the pharmacogenomics of adverse drug reactions, both serious and mild.

Written by Jonathan Holt, DO

November 13, 2008 at 12:27 am