By the numbers – my 2016

The end of 2016 – and every year – brings out the numbers – 10 best events, top news stories, greatest moments in sports, etc.  People have a natural need to quantify and rank things.  It gives us a sense of control over our lives – very important in a year that so much seemed beyond our control.  I am no different – living my life by the numbers.  I track my activity and sleep with a Fitbit, my runs with Runkeeper, occasionally track my calorie intake with Lose It! I track the number of patients I see every day, the articles I post on TheDiagnosisMD, number of hits it gets.  While the numbers are not the sum of all that is important in my life, it is an interesting lens with which to view it through!

Blog

  • 11 posts – missed my goal of 2 per month
  • Wrote 4/11 in January – meaning I went months without updating TheDiagnosisMD, other than via observations on Twitter and Facebook.
  • 824 people visited this blog in 2016 – less than in 2015 – perhaps an indicator of the lack of consistency last year!
  • In 2017, not only do I want to write more – I want to write consistently.

Activity

  • Tracked 4,463,882 steps – over 700,000 more than 2015 – NYC is a walking town for sure!
  • Ran 375 miles – 25 more than last year
  • Average distance per run 5.4 miles
  • Average pace of 8:56 per mile –  32 seconds per mile faster
  • I sleep an average of 6.5 hours per night – 12 minutes more per night than 2015

Work

  • Not going to attempt to count hours!
  • Became more involved in a leadership role in our practice and the Department of Medicine
  • Was co-investigator on a grant submission (decision pending) to develop a clinical research project and education program
  • Taught medical students and residents
  • 2940 face to face visits with patients

This last number strikes me as incredible – not for its absolute value, but the opportunity it represents.  2940 chances to make a difference in someone’s life.  2940 shared moments of success, failure, hope and fear as people cross my path.  My goal in 2017 is to make the most of these moments – for myself and my patients!

What are your goals for 2017?

The path to wellness begins with a proper diagnosis

Personalized Medicine isn’t necessarily Personal

3 months ago our family dog got sick.  Her liver was very inflamed.  The evaluation revealed copper deposits in her liver.  This was likely due to a genetic defect – very common in several breeds in dogs, but not common in hers.  Despite efforts to remove the copper with medication, the damage was too severe, and we lost her about a month ago.
This prompted some research into her family history – one “cousin” died from liver issues, but it was not known if it was copper related. There is a blood test that can see if a dog had the “copper” gene and my wife and I started discussing what we would have done differently if we had known.   
Since cloning the human genome, we have identified genes and mutations associated with cancer, drug sensitivities and the risk of other chronic conditions.  We have also identified mutations that may not have any impact on health, and others that the impact is unclear or unknown.
Using that genetic knowledge to direct diagnosis and treatment is called personalized or precision medicine. It was mentioned in the Federal Budget for 2016 and the National Institutes of Health is dedicating significant research money to it.  There have been several direct to consumer companies offering to read your DNA and tell you what diseases you are at risk for.

How is this done and what can you really learn?  

Precision Medicine assumes that by running a person’s DNA code you will get results that shows what diseases you are likely to get – heart disease, diabetes, cancer, etc.  For those diseases you already have, it can tell you which medications are most likely to be effective.  Plans can then be developed to treat illness and recommend screening programs based on one’s DNA code – offering medications with the best chance of success to those with the proper codes and not giving them to people who are not likely to respond or be at increased risk of toxicity.
There are already examples of this in use today.  We avoid medications in people with certain genetic markers because they are more susceptible to side effects (people may be more or less sensitive to certain blood thinners based on their DNA). Many cancers, from lung to breast to lymphoma and leukemia have genetic markers run to see what treatments are likely to work. Perhaps the most famous use of genetic testing determining treatment is Angelina Jolie.  She tested positive for the BRCA1 gene greatly increasing her risk of breast and ovarian cancer.  She then elected to have mastectomies and her ovaries and uterus removed before any cancer developed.
Genetic based diagnosis and treatment has the potential to change the way we evaluate risk and treatment.  However, checklist testing and treatment is not personal.  Blind application of data to a person without context (history) reduces medical care to algorithms and formula without the personalization it is supposed to offer. There is a social and ethical side to the use of genetic information that we are just beginning to understand, from privacy laws to insurance regulation to job security.  Would you hire someone you knew had an increased risk of and potentially expensive illness if you were responsible for paying for their care?  Would you marry someone knowing their illness potential?  Have children?  These are all issues that need to be sorted out as we move into this new paradigm for healthcare.
Most importantly, people need good information on what their tests mean.  Many of the kits available now report mutations that aren’t clearly associated with disease.  The FDA ordered one company to stop selling its test and services due to non-compliance with testing regulations.  They have since started selling a very specific test for a single condition, but not a general DNA analysis.  The next age of primary care will involve helping people curate and collate their genetic information.

Do I worry that the genetic classification of diagnosis and treatment will make me obsolete?  

To the contrary, I think it can make me better at what I do.  I already strive to get to know my patients, understand how health or lack thereof fits in the rest of their life.  We discuss risk for future disease, concerns about hereditary and what medicines are best for them.  That is personalized medicine.  Getting to know my patients at the genetic level can only strengthen that bond.  Using the information we get from genetic testing and putting it in the context of the person sitting across from me is how we put the Personal in Personalized Medicine.

The path to wellness begins with a proper diagnosis

Personalized Medicine – Back to the Future

Almost every day I get asked a similar question.  “Should I get…”  we fill in the blank with a test – mammogram, stress test, PSA, colonoscopy are common ones.  People are concerned about having a disease and want to know if they can do anything about it.  They are worried and a little scared of what they may find out.  In addition, people are presented with conflicting information – the cancer society recommends women get mammograms beginning at age 40, an advisory committee called the US Preventive Services Task Force (USPSTF) says 50.  The USPSTF says not to check PSA in men, the cancer groups disagree.  There are ads for home DNA tests, full body scans and “executive physicals” that claim to identify disease.  There are media stories of being able to use all this technology to tailor treatment to a persons genetic code – ushering in the age of “Personalized Medicine.”  

It is against this backdrop and expectation that people ask their doctors to be able to predict the future, or look at their blood tests and reassure them that they are safe.  When people purchase these tests or ask me about ordering a test, almost all are thinking that a normal result will reassure them they are ok – not about what a positive test means – or worse – an indeterminate test.

The result is we now have the ability to use technology to see what is normal or not – but our ability to find abnormalities is much greater than our ability to assign meaning to it.  Is that nodule on your full body scan something dangerous or is it an abnormality that likely has no clinical meaning or impact on health – what we call an “incidentaloma?”  What has happened as our ability to detect has exceeded our ability to interpret is the development of guidelines.

These guidelines evaluate a technology or test and give a recommendation on its use.  The recommendation is usually based on a review of published evidence or a review of selected evidence.  The review of evidence averages out differences in the population in an attempt to give a blanket recommendation.  These generalizations are then applied to individuals and often viewed as hard and fast rules instead of suggestions.  This non-discriminate application of guidelines is the exact opposite of what science is trying to accomplish with technology – resulting in depersonalized medicine.  

It is ironic that with all the technology we are developing to personalize care we have devalued the very thing that would allow its proper implementation – the doctor-patient relationship.  By coupling technology with a doctor’s knowledge of both an illness and the personal history of the patient in front of them an intelligent plan of how to apply technology can be developed.  Prior authorizations, approval requests and denials by insurance companies interfere with a doctor’s ability to do so.  These obstacles add more to the cost of care than the very tests a physician may be trying to order!  

I have spent the majority of my career advocating for the intelligent use of information technology and Electronic Health Records to enhance the care of the patient in front of the doctor.  Guidelines based on the “average person” can be applied to large populations with ease.  However, when you are discussing disease risks and testing with the individual sitting across from you, it becomes less clear-cut that they are the “average person” the guideline applies to.

So while a patient’s DNA may lead to personalized treatments to diagnose and cure illnesses the ability to deliver personalized medicine already exists – when a doctor and a patient take their history and intelligently apply technology to it – resulting in the best care for that person.

The path to wellness begins with a proper diagnosis