Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Summary

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

Conditions

• X-Linked Genetic Diseases
• Autosomal Recessive Disorder

Interventions

OTHER

Reproductive Genetic Carrier Screening

Carrier screening for approximately 1300 genes associated with severe autosomal recessive and X-linked recessive conditions affecting children 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

Sponsors & Collaborators

• Australian Government Department of Health and Ageing

  collaborator OTHER_GOV

• The University of New South Wales

  collaborator OTHER

• The University of Western Australia

  collaborator OTHER

• Harry Perkins Institute of Medical Research

  collaborator UNKNOWN

• University of Sydney

  collaborator OTHER

• Macquarie University, Australia

  collaborator OTHER

• Griffith University

  collaborator OTHER

• Victorian Clinical Genetics Services

  collaborator UNKNOWN

• NSW Health Pathology

  collaborator UNKNOWN

• PathWest Laboratory Medicine WA

  collaborator OTHER_GOV

• King Edward Memorial Hospital

  collaborator OTHER

• Royal Brisbane and Women's Hospital

  collaborator OTHER_GOV

• Women's and Children's Hospital, Australia

  collaborator OTHER_GOV

• Sydney Children's Hospitals Network

  collaborator OTHER

• Royal Hobart Hospital

  collaborator OTHER_GOV

• Murdoch Childrens Research Institute

  lead OTHER

Principal Investigators

• Martin Delatycki · Murdoch Children's Research Institute/Victorian Clinical Genetics Services

• Edwin Kirk · Sydney Children's Hospital Network/NSW Health Pathology/UNSW

• Nigel Laing · University of WA/Harry Perkins Institute/PathWest Laboratory Medicine

Study Design

Allocation

NA

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2019-11-21

Primary Completion

2022-03-31

Completion

2024-12-31

Countries

• Australia

Study Locations