Pharmacogenomics and what it can mean for high acuity pts and their medications

Over the last year or more, I have been talking and promoting the use of PGx (pharmacogenomics) DNA testing.  We ran a PGx test that our PCP recommended only to discover that it did not cover opiates –  in discussing this test with our PCP – he was under the false impression that it did.  Not only that but I talked to a Pharmacist at this company, he shared with me some other “short comings” of their testing & reports.  So I found another company that did cover opiates and a total of 200 FDA approved meds… so we did that test  https://www.clarityxdna.com/clarityx-comprehensive-test/

It came back and it suggested that Barb may have some metabolism issues with both of her LA & IR opiates and one of her other medications.  I have shared the report – all 70 pages – with our PCP and my observations & opinions of what it revealed.

But on Barb’s report there was something that was very strange that showed up… Barb was diagnosed with Breast Cancer in 1994 – the end of this month she will be a 28 yr survivor – with breast CA, a woman is not considered “cured” until 10 yrs …

Barb was our Master Fitter/Trainer in our Mastectomy prosthetic center…  We knew that the younger a woman was when diagnosed with breast CA… the more likely it would metastasize to brain/bone/lung/liver and that was typically fatal.  Because of what she saw working with women with breast CA she did self breast exam several times a week…  Her lump became palpable between Sunday and Wednesday and she went for a follow up mammogram on Friday.. which confirmed there was a lump… one of the staff walker Barb from the mammogram center to the surgeon’s office she had used before…  he even skipped lunch – because he was scheduled to go out of town for a seminar..  A biopsy was scheduled for Monday and her lump was malignant and growing at TEN TIMES the normal rate.  A modified radical was scheduled for Wednesday.  Back then, a lumpectomy  was not believed to be a good option.  Her lump was already 1.9 Cm and no lymph nodes were involved… made it a STAGE ONE under the classification used at that time… a 2.0 Cm it would have been classified as a stage-2. She finished several doses of chemo on New Years’ eve of 1994.

Barb was prescribed the normal medication post chemo that was suppose to suppress any further metastasize of the cancer.. with breast CA , 60% of the metastasizes happen within the first 3 yrs.  For Barb this medication cause a significant – almost fatal – side effect – temporary  BLINDNESS and the first time she experienced this – SHE WAS DRIVING ALONE…

Of course, this medication was discontinued IMMEDIATELY…  of course back in 1994, the internet was nothing like it is today- as far as depth of research material.  I read all the FDA available literature… nothing showed up… I contacted our PCP … NOTHING… I contacted her Oncologist … NOTHING… I contact the pharma’s research dept that made this brand name drug … NOTHING…

Back then the pharma Glaxo, was providing a internet bulletin board for pharmacists… it was based at the St Louis College of Pharmacy.. somehow.. I was asked to be one of ELEVEN national moderators for this bulletin board.. and because of this, I was fairly active on this bulletin board.  One of the pharmacist at the St Louis College of Pharmacy was a “informational specialist”… so I was at the end of my resources trying to find out about this seemingly unknown reaction to this med that Barb had experienced.   She was able to locate a obscure article in a England Medical Journal from the 70’s that MENTIONED this side effect with this med.

Now back to where this post started, in Barb’s PGx report – which has three columns …. one column listing meds that she should normally metabolize, second column listing meds that she MAY HAVE metabolism problems with and a third column where meds  SHOULD NOT BE USED – based on the pt’s abnormal liver enzyme issues and the ONLY MED on the 70 pages there was ONE MED LISTED IN THE SHOULD NOT USE COLUMN… and it was this med that Barb had this obscure side effects that almost no literature listed it back in 1995.

Of course our DNA was not fully mapped until the early 2000’s and that is what all this pharmacogenomics testing is based on… but it clearly demonstrates how important this testing can be to some/many/all high acuity pts – sickest of the sick and taking a “boat load” of meds. Everyone needs to remember that what medical science knows about the human system is dwarfed by what it doesn’t know.

One Response

  1. Hi Steve, your article is quite interesting, I will have to ask my pcp if he will order it. I have severe life threatening allergies to some antibiotics and unfortunately had sepsis more than one time.
    I wanted to congratulate your wife on being a 28 years BC survivor. That is terrific! As a stage 3b Head and Neck cancer survivor for the last 6 years, I completely understand how much that means.

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