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Understand your journey

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Explore the process for enrolling and taking part in the study

How to collect your mouth swab samples

For those who choose to have genetic carrier screening as part of this study, both biological parents will need to provide mouth swab samples. Watch this video for instructions on how to collect your samples.

Understanding your genetic carrier screening results

WHAT IS A LOW CHANCE RESULT?

A low chance result means that the couple have a low chance of having a child with any of the genetic conditions screened.

Couples who receive a low chance result will receive an email to access their results through our online study portal. Their referring healthcare provider will also receive a copy of the results.

Whilst a low chance result can provide reassurance to the couple, it is important to be aware of the following information:

  • The chance the couple may have a child with any of the genetic conditions screened through this study is reduced, but not eliminated. Due to limitations in genetic testing techniques, there remains a small possibility that a fault present in a gene was not detected.
  • This screening test does not include every genetic condition. Screening is only performed for the conditions included in the test, and the couple may still be genetic carriers for a condition not included in the screening provided through this study.
  • This screening test does not replace any of the other screening tests and ultrasounds usually recommended during pregnancy. Couples who are planning a pregnancy, or are in early pregnancy should speak to their healthcare provider about all screening options available to them.
  • The result is only relevant to the couple screened. If either member of the couple chooses to have a child with a new partner, repeating reproductive genetic carrier screening with the new partner is recommended.

WHAT IS AN INCREASED CHANCE RESULT?  

An increased chance result means that the couple have an increased chance of having a child with a particular genetic condition. In this situation, the couple’s chance of having a child with the condition is usually 25% for each pregnancy they have.

Couples who receive an increased chance result will be contacted by a genetic counsellor who will discuss their result with them and organise a prompt appointment with their local clinical genetics service. During the appointment, the couple will be able to discuss the genetic condition, options for further testing and family planning, and what the results might mean for family members.

It is important to be aware that the screening performed is only relevant the couple screened. If either member of the couple chooses to have a child with a new partner, repeating reproductive genetic carrier screening with the new partner is recommended.

To see other commonly asked questions about participating in Mackenzie’s Mission, click here.