Frequently Asked Questions
Who can benefit from a pharmacogenetic test?
This test may be useful in selecting the optimal drug
dosage for any woman being treated with drugs for fertility problems. The test
may also predict who is more likely to succeed following minimal stimulation
IVF or even natural cycle IVF (in which no drugs are used).
What is pharmacogenetics?
Pharmacogenetics is the study of how a person's genes can
influence their response to medication. Even a single letter change out of the
6 billion letters of the entire DNA code can explain why different people
respond to the same medicine in different ways. In some cases, such changes can
mean harmful side effects or no effect at all of the medicine prescribed.
Why is pharmacogenetics important in assisted reproduction?
From the perspective of ovarian stimulation, the two worst
outcomes are (i) a poor ovarian response and (ii) ovarian hyperstimulation
syndrome (OHSS), both of which can lead to cancelled cycles. Doctors currently
consider your age, body mass index, ovarian ultrasound results, hormonal
profile (including follicle stimulating hormone -FSH) and previous response to
FSH to select an optimal drug dose that will limit the chances of OHSS and poor
response. A growing body of evidence is supporting the production of a patient
specific genetic profile that helps identify women most likely to over-respond
or poorly respond to the drugs used in IVF.
In this way, a simple blood test can help to customise your treatment. We believe that this test will help to
improve the safety and efficacy of IVF treatment by allowing us to prescribe
the right drug, at the right dose for every patient.
How common are the genetic changes and are they associated with disease?
The tiny genetic changes are present in all people and are
not usually associated with disease. Many have no known effects at all. The changes we are testing for only affect
the way women respond to certain medications. The specific genetic profile
associated with poor response to FSH may be present in almost 1 in 4 women, but
this proportion varies according to their ethnic origins.
What does the screening test involve?
The screening test is performed on the woman providing eggs only. Using our current test, we can
identify up to five different genetic regions which could influence a woman's
ability to respond to the drugs (or the body's own naturally circulating
hormones) involved in producing and maturing eggs. The test is performed after taking 5-10 mls of your blood. The
test can be done at any time, is not affected by infertility treatment or
menstrual cycle and, unlike the blood serum FSH test, the results do not change
from month to month. The test will be
performed prior to determining your stimulation drug dose requirements.
How are the results used?
The results are usually ready within two weeks of us
receiving the blood sample and will be used to help determine your stimulation
dose. Patients with a genetic profile associated with poor response to FSH may
benefit from a higher initial dose than would otherwise have been selected
based on age, BMI, basal FSH and so on.