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Everything you need to know about the study

Everything you need to know about the study Image

To take part in Mackenzie’s Mission, couples need to be invited by a participating healthcare provider. General practitioners, obstetricians, midwives, genetics health professionals and fertility specialists at selected sites across Australia are inviting people to participate in the study. Unfortunately, there is not an opportunity for people to take part by contacting the study team and registering themselves.

Couples who are planning a pregnancy, or are in early pregnancy, will be asked by their participating healthcare provider whether they wish to be involved in the study. The healthcare provider will then provide the couple with further information about reproductive genetic carrier screening and the study, including the risks, benefits and possible outcomes of their involvement, and details on how to enrol.

Couples who have been invited to take part in Mackenzie’s Mission can enrol in the study through our online study portal. A telephone helpline is available for couples considering enrolling in the study to talk to a genetic counsellor, should they have further questions.

The study will start recruiting couples through participating healthcare providers in Victoria, Western Australia, New South Wales and the ACT in 2020. The study will then open in all other states and territories in early 2021. Participant involvement in the study is planned to be complete by the end of 2021.

Up to 10,000 couples will be screened as part of the study. We aim to enrol a broad range of couples to reflect Australia’s diversity. This is important to ensure the outcomes of our research are applicable to the whole population.

No, this is a research study and participation is optional.

The healthcare providers who invite people to participate will provide information and support to help prospective participants make an informed choice about whether or not to take part.

The study aims to understand what people think about reproductive genetic carrier screening. We welcome participation from people who want to have screening, those who are unsure, and people who know that they don’t want screening.

People who haven’t been invited to take part in Mackenzie’s Mission by a participating healthcare provider or are not eligible for the study, but would still like to access genetic carrier screening, can find information about other available options here.

Mackenzie’s Mission screens couples to find out if they have an increased chance of having a child with a severe genetic condition that occurs in childhood and has a significant impact on lifespan and/or quality of life. For some of these conditions, early diagnosis and treatment can improve a child’s health.

The study screens for about 1300 genes associated with more than 750 severe childhood-onset genetic conditions, including spinal muscular atrophy (SMA), cystic fibrosis (CF) and fragile X syndrome (FXS).

For more information about the conditions that are screened for in this study, click here.

Reproductive genetic carrier screening in this study screens the biological mother and father’s genes together.

The result provided tells couples if, together, they have an increased chance of having a child with any of the genetic conditions screened.

The best time for prospective parents to have reproductive genetic carrier screening is when they are planning on having a child, and are not yet pregnant.

If a couple find out they have an increased chance of having a child with any of the genetic conditions the study tests for, there will be time for the couple to discuss the result with a genetic counsellor and explore their family planning options. Knowing this information before becoming pregnant provides more options than learning it when the couple is already pregnant.

Reproductive genetic carrier screening through this study is also available in early pregnancy (before 11 weeks).

It is important the results are received as early as possible in pregnancy. If the results show an increased chance of having a child with a genetic condition, and further testing finds that the developing baby will have the condition, this allows more time for the couple to consider the result and make an informed decision about how to manage the pregnancy.

The reproductive genetic carrier screening provided through this study tests the DNA taken from a mouth swab.

Couples who take part in the study and choose to have screening will be sent a sample kit in the mail containing two mouth swabs – one each for the biological mother and father.  A mouth swab is simple and painless. Couples will then post their samples back to the laboratory for testing.

The reproductive genetic carrier screening results will be available approximately four weeks after the couple’s mouth swab samples arrive in the laboratory.

No, it will not be possible to tell each member of the couple what conditions they are individually genetic carriers for. This is because the genes from both members of the couple are analysed by the laboratory together.

Only couples who have an increased chance of having a child with any of the genetic conditions screened will be told that they are genetic carriers for that condition.

There are a number of options available if a couple is found to have an increased chance of having a child affected by any of the genetic conditions screened.

Some things to consider will be:

  • What the genetic condition is
  • The severity and impact of the condition
  • Whether treatment is available for the condition
  • What reproductive options are available when planning or having a baby
  • The couple’s values

The following options are available:

  • Become pregnant naturally and have testing in early pregnancy, known as chorionic villus sampling (CVS) or amniocentesis, to see if the developing baby will have the condition. If this testing shows that the baby will have the condition, the couple has the choice of whether they want to continue with the pregnancy or have a termination of pregnancy.
  • Undertake in vitro fertilisation (IVF) and have the embryos tested for the genetic condition through preimplantation genetic testing (PGT) before being transferred into the mother’s uterus. Couples who are not pregnant and are found to have an increased chance of having a child with any of the genetic conditions screened through Mackenzie’s Mission will be offered one free cycle of IVF with PGT.
  • Use donor eggs, sperm or embryos to achieve a pregnancy.
  • Consider adoption.

Couples who have an increased chance of having a child with any of the genetic conditions screened will be able to explore all of these options in detail with a genetic counsellor. The purpose of reproductive genetic carrier screening is to assist couples in making informed decisions about their family planning. There are no right or wrong decisions, and it is up to the couple to decide which options are most suitable for them.

If a couple have reproductive genetic carrier screening through Mackenzie’s Mission, and in the future either member of the couple wants to have children with a different person, the previous results will not be applicable to the new couple.

Reproductive genetic carrier screening would need to be repeated with the new partner to provide information about the chance of having a child with an autosomal recessive or X-linked genetic condition.