Genetic Carrier Screening

Monash IVF's genetic carrier screening is designed to be as simple as possible for patients. There are two ways for patients to access the test, depending on what stage of their fertility journey they are at:

• Option 1 - DIY test at home (non-pregnant patients)
• Option 2 - Blood collection at any Monash IVF, Sydney Ultrasound for Women, Monash Ultrasound for Women or Sonic Pathology collection centres (pregnant patients)

The process for patients is as follows:

1. The patient orders the screening test online via the Monash IVF website.
2. They receive an email from the Monash IVF genetic counselling team with the details of their test and a consent form.
3. If they are pregnant, the counselling team calls them to advise that a blood test is preferred, and emails them a pathology form. Otherwise, the at-home genetic carrier screening test is mailed to the patient.
4. When the kit arrives, they follow the instructions to provide a saliva sample. This will be in the form of a cheek swab.
5. They mail their sample back using the reply-paid envelope provided or drop it off at an eligible clinic.

They receive their results and supporting information from the genetic counselling team (usually within about 6 weeks). Low-risk couples will receive an email with their results. High-risk couples will be invited to book an online appointment to discuss their results in detail with a genetic counsellor.

Monash IVF's test compares very favourably to competitors on the number of conditions tested. It screens for 410 genes, making it more effective in identifying at-risk carrier couples. Most tests on the market only test for 3 genetic conditions. Often, these tests indicate that 1 in 40 reproductive couples will find that they have an increased chance of having a child with a single gene condition, but by testing for more genes, we uncover more conditions and the result becomes much more accurate (around 1 in 30).

Convenience for our referrers and patients has been a key consideration for us in designing the Monash IVF genetic carrier screening process. Patients are no longer required to come into clinic to have this test done but can now access it remotely. Doctors are required only to refer their patients to the website and then rest assured that our genetic counselling team walk patients through the test process and their results.

Most importantly, we have been determined to provide a premium test designed to integrate with our patients' fertility journeys both within and outside Monash IVF. To this end, when a patient declares their referring doctor’s name during the purchase process, we make sure that doctor receives a copy of the results.

Thanks to our network of experienced fertility specialists, genetic counsellors, scientists, obstetricians, gynaecologists, sonographers and sonologists, donor and surrogacy experts and nursing teams across the country, Monash IVF Group can offer patients holistic, integrated care from genetic testing to counselling, all the way through to fertility treatment options and prenatal diagnosis if required.

You can ask the patient to order the test online at https://www.monashivf.com/services/genetic-testing/carrier-screening/ or you can hand them a printed copy of our patient fact sheet, which can be downloaded here.

It is recommended that everyone have genetic carrier screening done regardless of existing conditions, because the patient or their partner/donor may carry other conditions as well. It may be possible for us to screen for specific known conditions, so if your patient or their partner/donor has a known condition, please email geneticsadmin@monashivf.com prior to them ordering the test.