Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

2019-11-14 17:39:51 | BioPortfolio


This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal recessive conditions will be performed on each member of the couple. A combined result will be issued indicating whether the couple has a 'low' or 'increased' risk of having a child with a genetic condition. It is anticipated that 1-2% of couples will be at an increased risk of having an affected child.

The study will evaluate all aspects of the RGCS program to assess the feasibility and acceptability of a publicly-funded population-wide RGCS program, including:

- education of recruiting healthcare providers

- education of participating couples

- implementation and uptake of RGCS

- frequency of increased-risk couples and their reproductive decisions

- psychosocial impacts

- ethical issues

- health economic implications

- health implementation research



Couples will be invited to take part in the study by their healthcare provider (HCP). The couple will enrol via an online portal, complete an education module, provide consent and complete a questionnaire. Those who consent to carrier screening will be sent mouth swab kits with samples returned by mail.The carrier screening performed will be done via accredited testing laboratories in partnership with clinical genetics services. Genetic counselling will be available to study participants throughout the process. Couples at increased risk will be offered a genetic counselling consultation and offered support to access reproductive options (i.e. prenatal diagnosis, preimplantation genetic diagnosis (PGD) which will be funded by the study for one cycle of IVF with PGD). All participants will be asked to complete an initial survey at study enrolment and invited to complete optional surveys at the time of screening, after return of screening results, and approximately 13 to 19 months after results. Subsets of participants will also be invited to take part in interviews.


The approximately 1300 genes tested in the Mackenzie's Mission carrier screening panel meet the following criteria:

1. The associated condition is one where an 'average' couple would take steps to prevent the birth of a child with that condition.

- This includes conditions with significant negative impact on quality of life for the child, the condition being lethal in childhood, and a significant impact on the family.

2. AND/OR: There is a potential benefit for knowing about the condition to inform management in the neonatal period. This criterion was particularly important if the condition was either not included on a newborn screening panel, and/or intervention would be required prior to results from newborn screening being known.

3. AND there is strong evidence for mutations in the gene being causative of the condition in question, with enough variants reported to allow confidence in informing couples of their chance of having a child with the condition in question.

Study Design


X-Linked Genetic Diseases


Reproductive Genetic Carrier Screening


Liverpool Hospital
New South Wales


Not yet recruiting


Murdoch Childrens Research Institute

Results (where available)

View Results


Published on BioPortfolio: 2019-11-14T17:39:51-0500

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