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Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia
  1. Royston Ong1,2,
  2. Samantha Edwards1,2,
  3. Denise Howting1,2,
  4. Benjamin Kamien3,
  5. Karen Harrop3,
  6. Gianina Ravenscroft1,2,
  7. Mark Davis4,
  8. Michael Fietz4,5,
  9. Nicholas Pachter3,
  10. John Beilby4,
  11. Nigel Laing1,2
  1. 1Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia
  2. 2Molecular Medicine Division, Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia
  3. 3Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia
  4. 4PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia
  5. 5Illumina Inc, Scoresby, Victoria, Australia
  1. Correspondence to Professor Nigel Laing; nigel.laing{at}


Introduction Preconception carrier screening (PCS) identifies couples at risk of having children with recessive genetic conditions. New technologies have enabled affordable sequencing for multiple disorders simultaneously, including identifying carrier status for many recessive diseases. The aim of the study was to identify the most effective way of delivering PCS in Western Australia (WA) through the public health system.

Methods and analysis This is a multicentre cohort pilot study of 250 couples who have used PCS, conducted at three sites: (1) Genetic Services of Western Australia, (2) a private genetic counselling practice in Perth and (3) participating general practice group practices in the Busselton region of WA. The primary outcome of the pilot study was to evaluate the feasibility of implementing the comprehensive PCS programme in the WA healthcare system. Secondary outcome measures included evaluation of the psychosocial impact of couples, such as reproductive autonomy; identification of areas within the health system that had difficulties in implementing the programme and evaluation of tools developed during the study.

Ethics and dissemination Approval was provided by the Women and Newborn Health Service Human Research Ethics Committee (HREC) at King Edward Memorial Hospital for Women (RGS0000000946) and the University of Western Australia (UWA) HREC (RA/4/20/4258). Participants may choose to withdraw at any time. Withdrawal will in no way affect participating couples' medical care. Study couples will be redirected to another participating health professional for consultation or counselling in the event of a health professional withdrawing. All evaluation data will be deidentified and stored in a password-protected database in UWA. In addition, all hard copy data collected will be kept in a locked cabinet within a secure building. All electronic data will be stored in a password-protected, backed-up location in the UWA Institutional Research Data Store. All evaluative results will be published as separate manuscripts, and selected results will be presented at conferences.

  • pilot study protocol
  • genetic carrier screening
  • reproductive medicine
  • attitudes
  • knowledge

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  • Contributors RO, SE, DH, GR and NL designed the protocol. RO drafted the manuscript, coordinated the revisions and submitted the manuscript. RO, with the assistance of MD and MF, selected the genes for analysis. MF and MD designed the process for result analysis, comparison and reporting. RO, with the assistance of JB, designed the sample collection process for the study. BK, KH and NP provided feedback for couple recruitment in Genetic Services of Western Australia. All authors participated in the revision of the protocol. All authors commented on various versions of the manuscript, agreed on the final version to be published and can attest to the integrity of the work.

  • Funding Funding for the study for developing the next generation sequencing targeted gene panel for this project has been funded by the Perpetual Trustees Impact Philanthropy Program – 201601939. Funding has also been provided through Professor Laing’s National Health and Medical Research Council Fellowship APP1117510 Translation Advancement Incentive and the Australian Genomics Health Alliance Project APP1113531 as well as philanthropic donations to Professor Laing’s Neurogenetic Diseases Group in the Harry Perkins Institute of Medical Research including the Zac Pearson Legacy. RO is supported by an Australian Postgraduate Award and an Australian Genomics Health Alliance PhD top-up award (GNT1113531).

  • Disclaimer Funders of the study had no role in study design, data collection, data analysis, data interpretation or writing of the report.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Not required.

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