Estrogen Metabolism & Genetic SNPs Testing
I am not a nurse, doctor or medical researcher. I am a patient advocate and have no affliation any individual or institution mentioned in this website. I am only sharing my personal medical experience. The information on this page was updated in October 2010.
INSTITUTE FOR INDIVIDUALIZED MEDICINE, Santa Fe, New Mexico:
Breast Cancer Study based on SNPs on CYP1B1, COMT, GSTM combined with estrogenic medication conducted since 2003. www.iimsite.com
GENOVA DIAGNOSTICS:
Private company currently offering blood-based Genetic Testing for all SNPs in Breast Cancer Study and discussed in University studies. Also offers estrogen metabolism testing via urine for monitoring. Physician Referral Service Available. www.gdx.net/product/10064
GENOSENSE Diagnostics GmbH
Private Company based in Vienna, Austria with doctor referrals around the globe. They offer all SNPs in Breast Cancer Study as well as other markes in their Post-40 Fem testing package.
PATHWAY GENOMICS:
Private company offering spit based genetic testing. As of June 15, 2010, they do not test for CYP1B1, CYP1A1, COMT, GSTM and GSTP. www.pathway.com
NAVIGENICS:
Private company offering spit based genetic testing. As of June 15, 2010, they do not test for CYP1B1, CYP1A1, COMT, GSTM and GSTP. www.navigenics.com
23andme:
Private company offering spit based genetic testing. As of June 15, 2010, they do not test for CYP1B1, CYP1A1, GSTM and GSTP. Their tests do include COMT. www.23andme.com
Babs' CYP1B1 Test Results
Babs' CYP1B1 SNP Results
Conventional Estrogen Metabolism Testing
Genetic Testing of your Estrogen Metabolism will allow you and your doctor to make informed long-term decisions about your use of estrogen based medications.
Conventional Estrogen Metabolism Testing consists of testing to learn your 2-Hydroxyestrone/16a-Hydroxyestrone ratio. This is typically a 24-hour urine test.
The benefit of having this test is that it will allow your physician to make current decisions about your use of estrogen based medications. It will not provide, however, a definite answer about your overall system and may best be used as a monitoring tool for women WITHOUT estrogen impairment who are taking estrogen based medications or to monitor the efficacy of medical interventions for those women who do have estrogen impairment.
If you are considering fertility treatments, I would strongly suggest getting the genetic test.
Why Hasn't my Doctor Already Tested This?
Pharmacogenomic Testing is not yet common practice. Even those medications for which the FDA REQUIRES Genetic testing, such as Warfarin, are mostly prescribed without the genetic test being administered.
The studies proving the link between impaired estrogen metabolism and the use of fertility medications, hormone replacement therapy and birth control pills have been published in the last decade or so. Physicians have explained to me that it often takes 20 years before a new discovery becomes common practice.
Your first step should be to ask your gynecologist about taking these tests.
Do not be surprised if your doctors do not know anything about this work or are even dismissive of it. As stated above, it takes a long time for new research to become common practice. Take your doctor the studies in the reference page or refer them to the reference page. If your current gynecologist reads these studies and does not insist that you take the tests, find another doctor who is familiar with pharmacogenomics.
Genetic Testing & Pharmacogenomics
Although genetic testing and pharmacogenomics are unfamiliar to most medical practicioners, already the FDA and some insurance companies are requiring genetic testing before certain medications are prescribed. In certain areas of medicine, such as oncology, using genetic testing is becoming much more commonplace.
I hope that in the very near future, most doctors will require their patients to take a simple blood test which will determine the function of their estrogen metabolism before prescribing Estrogen-based medications.
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