The Holistic Genome

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Archive for November 2008

Family History

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Family 

 

Family Medical History

As you gather with your family to give thanks, perhaps it is a good time to talk about the family tree and discuss your family’s medical history.

Some direct-to-consumer genetic testing companies try to argue that their services are a replacement for a family history.   I strongly disagree. 

However, I am always amazed at the lack of knowledge my patients have regarding their family’s medical history. I have rarely seen a compete and thorough family history documented in a primary care chart. 

Why is this?

Partly, busy primary care physician do not have the time it take to take a thorough family history. It takes on average 9 minutes, but average new appointment time is only 15-20 minutes.  

There is also the concern regarding the security of family member records being stored in a patient’s medical record. 

I have also noticed that this is because it just not discussed or family members are ashamed to discuss it, or the details get lost in translation.  A family history of ‘stomach cancer’ which was only revealed to be ‘ovarian cancer’ suddenly changes my approach in the setting of associated cancers such as Breast Cancer. The specifics on the type of cancer can very helpful.  I have at time resorted to getting death certificate documentation for the actual cause of death, when this is necessary.  A great service is call Vitalchek where your can order these documents electronically. 

There is also a great tool offered by the United State’s Surgeon General’s website that helps families input their family’s medical history and makes it downloadable and accessible.  

So, at this time of reflection, take a moment to share this with your family and have a discussion around the dinner table.  

Happy Thanksgiving!

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Written by Jonathan Holt, DO

November 27, 2008 at 12:54 pm

Don’t worry, your genes are happy!

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Don't worry, your genes are happy!It has long been postulated that the overall happier you are the healthier you are.  It could also be argued the opposite.  Now, researchers in Australia have found genes that predict your personality traits that affect ‘happiness’ in the March issue of Psychological Science.  “Subjective well-being” was studied among 973 twin pairs to test the hypothesis that your genes account, to some degree, your happiness.

Subjects, in the United States, were called via telephone and asked a series of questions.  Identical verses paternal (non-identical) twins were questioned regarding their overall ‘subjective well-being’.

Subjects, who didn’t hang up on them, were asked three questions regarding their ‘happiness’ and then mailed the Midlife Development Inventory (MIDI), a self-administered 25-item personality questionnaire.

The researchers then analyzed the differences between the identical and non-identical twins and categorized their personality scores results into the areas of: NeuroticismExtraversionOpennessAgreeableness and Conscientiousness.

The idea being is that identical twin share all (well, almost all) of their genetic information and non-identical, only share 50%.  The researchers showed that the correlations of genes affected an individual’s personality traits which subsequently affected “subjective well-being” in identical twins was substantially greater than those of non-identical twins.  There were, however, no genetic effects that were unique to “subjective well-being” alone.

Thus, while your genes contributed to your personality in areas of Neuroticism, Extraversion, and, to a lesser extent Conscientiousness, it was your personality that mattered more!  Specifically, one’s ability to endure and ‘bounce back’ from an emotional stress.

Remember, there is no gene for the human spirit! So, don’t worry, just be happy!

Written by Jonathan Holt, DO

November 25, 2008 at 12:09 pm

Posted in health, spirit

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

Health – not just the absence of disease.

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Toothbrush and dental flossI recently returned from my dentist with a surprising finding!  I don’t take good care of my teeth!  ME!??  I mean I’m a health and wellness nut! 

Like many other people, I don’t floss often enough.  I try to do it everyday, but it never seems to be a priority. As a busy physician, there just always seems to be something more important to do…Like saving lives, refilling prescriptions, sleep and blogging!:)

This is symbolic of our dilemma to our health. It never seems to be a priority until it is too late and you need that root canal.  We know what we should be doing to stay healthy, but we don’t! Do we really need to sequence the genomes of the bacteria in our mouths, before we are willing to take the time to brush and floss? 

Similarly, diet and exercise never seem to be a high priority for most of us.  What good is it to find out if you have fast muscle fiber or slow muscle fiber type if you don’t ever exercise?  To often we procrastinate and find excuses. 

Irrespective of one’s genetic testing results showing an increased risk for coronary artery disease, we all should be getting more cardiovascular exercise!

Irrespective of one’s risk of deep venous thrombosis, we all show get up and stretch our legs on long airplane rides!

Enough said, I’m off to brush and floss my teeth.  You should too!

Written by Jonathan Holt, DO

November 15, 2008 at 12:02 am

Posted in health

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