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If you don’t know about ACTX, please consider this for your patients.  Now with 23 & Me and other sequencing done in the direct to consumer market, I have been impressed with ACTX.

Did you know that “89% of people have genetic variants that will impact how their medications work...and 3-4% of people have an actionable genetic risk that can be addressed...” (from ACTX)

As you may know, Andy Ury, MD, the creator of Practice Partner sold the product to McKesson in 2007.  He was an angel investor for a time but then set-up this unique genomics company.  It is a direct to physician company.   That is, if your patients wants to use this company, you then decide and authorize the patient to be tested.  ACTX then contacts, sets up the collection and then does the sequencing. In my humble opinion, Andy and his advisors have set up this company and service VERY WELL.  Let me give you some of the information a patient and their physician have access to once the DNA is sequenced.

Actionable Genetic Risks

In your electronic health record*, the patient genomic profile shows actionable patient genomic risks. For example, patients with Lynch Syndrome, a genetic condition, can have up to a 70% lifetime risk of colorectal cancer, which can be detected at an early stage through colonoscopy starting at a young age.  This is but one example.

Carrier Status Coverage

ActX’s carrier status panel now includes over 180 conditions that can help inform you and your patients about the risk of parents passing on serious recessive genetic conditions to their children.

Pharmacogenomics

I have found this to be helpful when a patient gets this done.  Let’s use me as an example.  Based on the testing, I am likely either to be at risk for using or not responding in the usual doses to the following meds:

  • Carbamazepine
  • Citalopram
  • Escitalopram
  • Hydralazine
  • Sertraline
  • Isoniazid
  • Warfarin


For instance, with warfarin, I am at increased risk for bleeding.  The recommendation is to reduce the initial dosing.  Turns out that, I have variants of CYP2C9 and VKORC1 genes which makes me susceptible.

Cost?

The cost is nothing to the clinician.  The patient pays about $395 (sometime discounts are offered).  This includes a 2 year ‘subscription’.  In the world of genomics, associations of different gene loci and diseases, risks and drug risks are being identified at an exponential pace.  So for those 2 years, ACTX has the DNA sequence of the patient and runs the new evidence against that patient’s sequence.  If a match is found, it is added to the patient’s profile and the patient is securely notified.

Some EMR companies have these profiles incorporated into their EMR.  This is pretty handy for the clinician.  However, I must admit I’m not so sure I want that ‘discoverable’ information in the EMR at this time.  I tell patients to review the genomic information and get back to me if they have questions.  All the info exists securely in the secure ACTX Cloud.  Why keep the information out of the EMR?  Insurance companies would have access (unless you have a secure location in each chart with limited access to this information).  I know there are laws protecting the patient but you never know…    IMHO, I just don’t think our culture is totally prepared to have our individual genomes available as part of the shared (interoperable) information.

However, some doctors may want to have incorporation of the pharmacogenomic data into the EMR.  This would be quite handy.   Using me as an example, if I ever get depression, I would let the doctor know the SSRI’s above and the fact that I may, with these meds, require more of the usual dose and sooner.  Additionally, I can see there the health maintenance reminder for a patient with LYNCH SYNDROME, for instance would be important.  Individuals with Lynch syndrome have an increased risk of colorectal and endometrial cancer [1]. Other sites of cancer include the ovary, stomach, small bowel, hepatobiliary system, renal pelvis, ureter, brain, and skin. There may also be an increased risk of breast, prostate, and pancreatic cancer in individuals with Lynch syndrome. Just using the colorectal cancer screening recommendations (UpToDate): Individuals with Lynch syndrome should undergo colorectal cancer (CRC) screening with colonoscopy every one to two years beginning at age 20 to 25 years, or two to five years prior to the earliest age of CRC diagnosis in the family, whichever comes first..”.

So having adequate access to suggestions to how to handle patients is also helpful.  Assuming the EMR has CDS (Clinical Decision Support), that helps (like UpToDate) but you can refer patients to  ACTX who can assist in referral for genetic counseling.

Another, less important concept, to consider is retaining your patients.  As primary care physicians we understand the concept of the patient centered medical home.  I tell patients that, at Skyline Family Practice, they should consider us their DIGITAL MEDICAL HOME.   We have all their other clinician consultations (and frequently all of their many results from across the health care 'system'), why not be their genomics medical home?

I would suggest you at least contact ACTX at, http://www.actx.com and give it a try.  That way you can easily enter into the world of medical genomics.

 

*eMDs Practice Partner doesn't yet have integration with ACTX.  Some other EMR's do.

20.09.2017
 
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