Sunday, December 30, 2018

Why I am Against Genetic Testing?

 Just because something is legal, doesn’t make it right.  Just because we enjoy a right of free speech, doesn’t mean we should be verbally insulting people. Just because the Food and Drug Administration (FDA) approves a treatment or a test, doesn’t mean we should pursue it.

The FDA has given approval to 23andMe, a private company, to provide genetic testing directly to individuals.  The results provide genetic risks of contracting several medical conditions including Parkinson’s disease and Alzheimer’s disease.  No prescription or physician visit is needed.  While 23andMe execs and marketers will undoubtedly claim that their mission is to empower the public, this does not tell the whole story.   Indeed, many patients who undergo the testing will be worse for having done so.  

I would never submit to the 23andMe home testing program myself, nor would I counsel my patients to do so.  It seems bizarre that the incredibly complex and nuanced medical issue of genetic risk would be available for direct consumer purchase.  We don’t permit patients to order a chest x-ray on themselves, but yet we will give them access to genetic testing results that many doctors like me won’t be able to skillfully interpret.  Make sense?

 “How much risk can there be if all you have do is to submit a saliva sample?” 

The risks come later once the results are in.  What is the value of discovering that you are at risk of developing a disease when there is no available treatment that can mitigate this risk?  If you learn that you have an increased risk of Alzheimer’s disease, would this knowledge improve your health?   Or would your life be filled with worry over a possible agonizing future.  Would you wonder when you misplace your keys if the beginning of the end is near?  If you knew now that Parkinson’s disease, an incurable and progressive neurologic disease, might be percolating within your brain, would your life be better?

Importantly, having an increased genetic risk does not mean that you will develop the condition.  You may very well live a long and happy life without ever developing the disease that you are at risk for. 
Of course, we should welcome genetic testing that can detect risks of conditions that we can prevent or influence, an entirely different issue from the one being discussed here.  Indeed, genetic testing has helped many of my patients and their families.

Will the public be able to resist the pitch from 23andMe and its competitors?  While physicians can educate our patients on the perils of these products, remember that patients are free to purchase them themselves.   It is likely that we physicians will be called upon only after the confusing and ominous results are in. 

Finally, the genetic risk industry’s true mission may be to sell genetic data to pharmaceutical companies and other institutions, a point not emphasized to the public. 

Sunday, December 23, 2018

Whistleblower Holiday Cheer 2018!

‘Twas the night before Christmas,
And all through the House,
The creatures were stirring,
And ready to pounce!

Why wait for Mueller?
What could he teach?
We already know
That we must IMPEACH!

With Dems in the House
So anxious to blame,
Their strategy is…
Ready! Fire! Aim!

Both Chuck and Nancy,
Will not take the fall,
Not on their watch,
Will there be a wall. 

The Dems are all joined,
In salivation,
At the prospect of,

We watch GOP
Twirl and deflect,
Supporting a man,
They just won’t reject.

The only Repubs
Who show any fire,
Are senators who
Announced they’ll retire. 

While all of us watch
With ire and confusion
On Russia and Stormy
And ‘No Collusion!’

The press and our pols
Care nothing for us
It’s ratings and votes
That drive their bus. 

Is there no honest man
True to the bone
Who can rescue us all,
Perhaps, Michael Cohen?

And Dancer and Blitzen
And Warren and Booker
All Jumping into
The pressure cooker.

Who will emerge
From their Gang of Plenty
To take on His Highness
In 2020?

Joy and Peace!

Sunday, December 16, 2018

Medical Paperwork Overwhelms the Profession

Does any living, breathing human believe that there is not enough paperwork in our lives?  While we are all burdened, I believe that the medical profession is uniquely deluged with an absurd volume of documentation requirements, most of which should be filed under ‘N’ for nonsense.  Ask any physician or nurse about this and have antacids on hand as you will soon see some sizzling smoke emerging from the medical professional’s nostrils.

Each hospitalized patient has a tremendous amount of recorded data which nurses painstakingly document.  This requirement fails on two fronts.  It takes nurses away from time at the bedside.  Additionally, most of the stuff they document is not viewed by physicians or others on the care team.  For example, I rarely read the nurses’ notes.   Is this because I do not value the nurses’ opinions on my patients?  Hardly.  Instead or perusing their written descriptions of my patients’ progress, I use a sophisticated, high-tech technique to obtain their input.  I will illustrate this below.

“How is my patient doing?”

Yes, I ask them directly.  I’ve been doing it this way for 25 years and I will continue to do so. 

This Nurse Pleads for Documenation Relief

Patients also are signing reams of mindless forms in physicians’ offices and in hospitals at the time of admission.  Hospitalized patients sign multiple forms before they are taken to their wards, and often must sign additional forms giving permission for blood transfusions and various diagnostic tests or surgeries.  How carefully do most patients read this forms?  About as carefully as we read through a 10,000 word legal document when we are upgrading software on our phone or computer prior to clicking on ‘I Agree’.  Who has the time, interest or legal knowledge to read through all of the stuff that we have to sign?  I don’t. 

A few days before writing this, a patient related an amusing prank she perpetrated on her physician.  While in the waiting room, she was filling out a required form where she would list the presence or absence of various medical symptoms.  She found it annoying that her physician requires that the same form be filled out prior to every visit.  So, she wrote on the form that she had died last week.  Curiously, neither the physician nor any of the staff asked the patient about this medical development.  Perhaps, they didn’t think it was significant.  You don’t think that they simply didn’t read the form, do you?

Sunday, December 9, 2018

Chinese Researcher Defends Gene-Edited Twins -The World Must be Wrong

Physicians confront alcoholism regularly.   Indeed, nearly every day on my hospital rounds, I treat patients who are suffering the ravages of alcohol abuse.   While these patients may have a genetic predisposition toward alcohol abuse, or faced other personal pressures and demons, ultimately the disease is initiated by a person who made an unfortunate decision.  I do not judge these individuals as their doctor, any more than I do my hepatitis C patients who contracted the virus as a result of intravenous drug use.   But, when are examining the causes of these maladies, personal responsibility and accountability must be considered.  In fact, failure to do so will frustrate our efforts to prevent various injurious addictions. 

Physicians and others have heard the vignette when an alcoholic denies his addiction despite that every other person in his life feels otherwise.  “They are all wrong,” he states emphatically.

'I can quit anytime.'

There are many examples of individuals who stand their ground despite popular disapproval.  This might represent truly noble behavior and high principle when a person defies public opinion by doing the right thing.  This is called leadership.  More commonly, when a person lurches forward in defiance of the opinions and advice of experts and others, it is not leadership, but ignorance, hubris and arrogance. 

Recently, a Chinese researcher announced that a set of twins were born after altering their genes so that they would be protected against infection with the HIV virus.  The scientist announced that other births with gene alterations would be arriving soon.  I’ll not relate the scientific details, much of which is beyond my knowledge and understanding.  But, readers need to be aware that these genetic changes will not only affect the specific individuals but would be passed onto their offspring.  If true, it would constitute a permanent and heritable change in a person’s genetic code.  This is to be distinguished from utilizing genetic science to treat a single patient only, a more ethically palatable procedure.

I’ll leave aside the obvious fears that such a wanton ethical breach generates.  Even a lay person can appreciate the potential dangers at play here.  Scientists and ethicists could give us a fuller account of what is at risk.  And they themselves would admit: ‘Imagine what we don’t know’. 

The global ethical community, including in China, expressed opprobrium against this arrogant, dangerous and rogue action.   It is rare for any of us to witness an issue that unifies people, organizations and nations that are so often in conflict.  

The Chinese researcher in the face of worldwide outrage continues to defend his work.  In other words, the world is wrong. 

When there is responsible opposition to our own views and beliefs, shouldn’t we consider that we might be wrong?

Sunday, December 2, 2018

The Risks of Drug Side Effects - A Case for Caution and Humility

I prescribe heartburn medicines every day.   There’s a gaggle of them now – Prilosec, Nexium, Prevacid, Protonix – to name a few.  As far as experts know, their primary effect is to reduce the production of stomach acid.  This is why they are so effective at putting out your heartburn fire.  In simple terms: no acid, no heartburn.

I am quite sure that well-meaning physicians like myself do not understand or will ever know all of the unintended effects of tampering with a digestive process that took a few million years or so to evolve.  Are we so arrogant that we believe that these drugs only target gastric acid production? 

They are absorbed into the blood stream and course through every organ of the body.  Is it not conceivable that certain tissues might be sensitive to these foreign invaders?  Might there be unintended consequences that occur far downstream well beyond our horizon similar to a butterfly effect.    Do we really think that gastric acid is present just to bother us and it serves no useful function?

A minor change in a complex system can cause faraway effects. 

The human body is a supremely elegant, complex and integrated structure.  Tampering with one part of it may have wildly indirect consequences so far removed that we will not recognize the connection.  Consider these examples:
  • A certain class of antibiotics can cause rupture of the Achille’s tendon.
  • An anti-malarial medicine can cause nightmares.
  • Rotovirus vaccine can cause intestinal blockage.
There is science underlying the 3 examples above, but consider how implausible the causal connections between the drugs and the side-effects are?  Imagine what we don’t know.

This is why seasoned medical professionals prescribe new medicines sparingly.    A new vanguard of medicines has entered the arena.  Biologic medicines have stormed into the medical universe promising to stem the progression of many stubborn diseases such as Crohn’s disease, rheumatoid arthritis, psoriasis and ulcerative colitis.   We have all seen commercials for these agents on television, where the actors posing as patients are always fit and often engaged in some athletic activity.   These medicines, which tamper with the immune system by design, must be taken FOREVER.   The list of potential known side effects covers several pages in small print and range from life-threatening infections to cancer.  And, to repeat a line from this very post, imagine what we don’t know.  

The human body is a masterpiece of design and function.  When we pull on a thread, we may be distorting the far corners of the tapestry and never even realize that we were the culprit.

My advice to my colleagues and to my patients?  Be skeptical and humble always.