Free Standard AU & NZ Shipping For All Book Orders Over $80!
Register      Login
Australian Journal of Primary Health Australian Journal of Primary Health Society
The issues influencing community health services and primary health care
RESEARCH ARTICLE (Open Access)

Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach

Stephanie Best https://orcid.org/0000-0002-1107-8976 A B C D E * , Janet C. Long https://orcid.org/0000-0002-0553-682X A , Zoe Fehlberg https://orcid.org/0000-0002-8449-206X A B , Alison D. Archibald https://orcid.org/0000-0002-4496-8262 F G H and Jeffrey Braithwaite https://orcid.org/0000-0003-0296-4957 A
+ Author Affiliations
- Author Affiliations

A Australian Institute of Heath Innovation, Macquarie University, Sydney, NSW 2113, Australia.

B Australian Genomics, Murdoch Children’s Research Institute, Melbourne, Vic. 3052, Australia.

C Peter MacCallum Cancer Centre, Melbourne, Vic. 3000, Australia.

D Victorian Comprehensive Cancer Centre Alliance, Melbourne, Vic. 3000, Australia.

E Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic. 3000, Australia.

F Department of Paediatrics, University of Melbourne, Melbourne, Vic. 3000, Australia.

G Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Vic. 3052, Australia.

H Genomics in Society, Murdoch Children’s Research Institute, Melbourne, Vic. 3052, Australia.

* Correspondence to: stephanie.best@unimelb.edu.au

Australian Journal of Primary Health 29(5) 480-489 https://doi.org/10.1071/PY23022
Submitted: 10 February 2023  Accepted: 12 April 2023   Published: 9 May 2023

© 2023 The Author(s) (or their employer(s)). Published by CSIRO Publishing on behalf of La Trobe University. This is an open access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)

Abstract

Background

As reproductive genetic carrier screening (RGCS) becomes more widely accessible, ensuring uptake by primary healthcare professionals (HCPs) is essential to equitable service provision. This study aimed to identify and prioritise implementation strategies to reduce barriers and support HCPs to routinely offer RGCS in Australia.

Methods

HCPs (n = 990) involved in a large national research study, offering couples-based RGCS, were surveyed at three time points: prior to offering RGCS through the study (Survey 1: Barriers); 8+ weeks after offering to their patients (Survey 2: Possible supports); and towards the end of the study (Survey 3: Prioritised supports). HCPs were from primary care (e.g. general practice, midwifery) and tertiary care (e.g. fertility, genetics) settings. Results were analysed via a novel approach of using behaviour change theory (Capability, Opportunity and Motivation – COM.B) to align theory to practice.

Results

Survey 1 (n = 599) identified four barrier themes: time constraints, lack of HCP knowledge and skill, patient receptivity, and HCP’s perceived value of RGCS. Survey 2 (n = 358) identified 31 supports that could facilitate HCPs offering RGCS. Survey 3 (n = 390) was analysed separately by speciality and clinic location. Prioritised supports for primary care HCPs were ‘regular continuing professional development activities’ and ‘a comprehensive website to direct patients for information’. There was general accordance with the perceived importance of the supports, although some difference in relation to funding between professional groups and clinic locations.

Conclusion

This study identified a range of supports acceptable to HCPs across specialties and geographic locations that policymakers may use to direct efforts to ensure the roll out of RGCS is equitable across Australia.

Keywords: behaviour change theory, COM-B, general practice, healthcare practitioners, implementation science, implementation strategies, Mackenzie’s Mission, reproductive genetic carrier screening.

References

Archibald AD, Hickerton CL, Wake SA, Jaques AM, Cohen J, Metcalfe SA (2016) “It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare. Journal of Community Genetics 7, 159-171.
| Crossref | Google Scholar |

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ (2018) Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine 20, 513-523.
| Crossref | Google Scholar |

Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA, Halliday JL, Best S, Kanga-Parabia A, Bennetts BH, Cliffe CC, Madelli EO, Ho G, Liebelt J, Long JC, Braithwaite J, Kennedy J, Massie J, Emery JD, McGaughran J, Marum JE, Boggs K, Barlow-Stewart K, Burnett L, Dive L, Freeman L, Davis MR, Downes MJ, Wallis M, Ferrie MM, Pachter N, Scuffham PA, Casella R, Allcock RJN, Ong R, Edwards S, Righetti S, Lunke S, Lewis S, Walker SP, Boughtwood TF, Hardy T, Newson AJ, Kirk EP, Laing NG, Delatycki MB, The Mackenzie’s Mission Study Team (2022) The Australian reproductive genetic carrier screening project (Mackenzie’s mission): design and implementation. Journal of Personalized Medicine 12, 1781.
| Crossref | Google Scholar |

Australian Institute of Health Welfare (2022) Rural and remote health. AIHW, Canberra. Available at https://www.aihw.gov.au/reports/rural-remote-australians/rural-and-remote-health

Bauer MS, Kirchner J (2020) Implementation science: what is it and why should I care? Psychiatry Research 283, 112376.
| Crossref | Google Scholar |

Best S, Long J, Theodorou T, Hatem S, Lake R, Archibald A, Freeman L, Braithwaite J (2021) Health practitioners’ perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: a systematic review. Prenatal Diagnosis 41, 708-719.
| Crossref | Google Scholar |

Best S, Long JC, Fehlberg Z, Theodorou T, Hatem S, Archibald A, Braithwaite J (2022) The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening. European Journal of Human Genetics 31, 430-444.
| Crossref | Google Scholar |

Borry P, Cassiman J-J, Hulstaert F, Liebaers I, Mortier G, Peeters H, Van den Bulcke M, Van Nerom A, Van Oyen H, Verellen-Dumoulin C (2017) Expanded carrier screening in a reproductive context. Towards a responsible implementation in the healthcare system. Advisory Report of The Superior Health Council no. 9240. Available at https://www.health.belgium.be/sites/default/files/uploads/fields/fpshealth_theme_file/shc_advisoryreport_9240_carrier_screening.pdf

Bullock HL, Lavis JN, Wilson MG, Mulvale G, Miatello A (2021) Understanding the implementation of evidence-informed policies and practices from a policy perspective: a critical interpretive synthesis. Implementation Science 16, 18.
| Crossref | Google Scholar |

Delatycki MB, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk EP (2019) Preconception and antenatal carrier screening for genetic conditions: the critical role of general practitioners. Australian Journal of General Practice 48, 106-110.
| Crossref | Google Scholar |

Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B, on behalf of the European Society of Human Genetics (ESHG) (2016) Responsible implementation of expanded carrier screening. European Journal of Human Genetics 24, e1-e12.
| Crossref | Google Scholar |

Holtkamp KCA, Vos EM, Rigter T, Lakeman P, Henneman L, Cornel MC (2017) Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. BMC Health Services Research 17, 146.
| Crossref | Google Scholar |

Kizirian NV, Black KI, Musgrave L, Hespe C, Gordon A (2019) Understanding and provision of preconception care by general practitioners. Australian and New Zealand Journal of Obstetrics and Gynaecology 59, 799-804.
| Crossref | Google Scholar |

Leibowitz R, Lewis S, Emery J, Massie J, Smith M, Delatycki M, Archibald A (2022) Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program. Australian Journal of Primary Health 28, 580-587.
| Crossref | Google Scholar |

Medical Services Advisory Committee (2020) Reproductive carrier screening for fragile X syndrome, spinal muscular atrophy and cystic fibrosis. Available at http://www.msac.gov.au/internet/msac/publishing.nsf/Content/1573-public

Mendelsohn BA (2021) Expanded carrier screening and the complexity of implementation. Obstetrics & Gynecology 137, 959-960.
| Crossref | Google Scholar |

Michie S, van Stralen MM, West R (2011) The behaviour change wheel: a new method for characterising and designing behaviour change interventions. Implementation Science 6, 42.
| Crossref | Google Scholar |

Poppelaars FAM, Henneman L, Adèr HJ, Cornel MC, Hermens RPMG, van Der Wal G, ten Kate LP (2003) How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genetics 6, 157-165.
| Crossref | Google Scholar |

Proctor E, Silmere H, Raghavan R, Hovmand P, Aarons G, Bunger A, Griffey R, Hensley M (2011) Outcomes for implementation research: conceptual distinctions, measurement challenges, and research agenda. Administration and Policy in Mental Health and Mental Health Services Research 38, 65-76.
| Crossref | Google Scholar |

Royal Australian College of General Practitioners (2020) Genomics in general practice. RACGP, East Melbourne, Victoria. Available at https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice/genomics-in-general-practice/background [Accessed July 2022]

Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, Abbott KM, Ranchor AV, Diemers AD, van Langen IM (2019) Feasibility of couple-based expanded carrier screening offered by general practitioners. European Journal of Human Genetics 27, 691-700.
| Crossref | Google Scholar |

Taylor N, Healey E, Morrow A, Greening S, Wakefield CE, Warwick L, Williams R, Tucker KM (2020) Aligning intuition and theory: enhancing the replicability of behaviour change interventions in cancer genetics. Implementation Science Communications 1, 90.
| Crossref | Google Scholar |

The Royal Australian College of Obstetricians and Gynaecologists (2019) genomics advisory working group and women’s health committee. Genetic carrier screening (C-Obs 63). RANZCOG, Melbourne, Victoria. Available at https://ranzcog.edu.au/RANZCOG_SITE/media/RANZCOG-MEDIA/Women%27s%20Health/Statement%20and%20guidelines/Clinical-Obstetrics/Genetic-carrier-screening(C-Obs-63)New-March-2019_1.pdf?ext=.pdf [Accessed July 2022]

van der Hout S, Holtkamp KCA, Henneman L, de Wert G, Dondorp WJ (2017) Advantages of expanded universal carrier screening: what is at stake? European Journal of Human Genetics 25, 17.
| Crossref | Google Scholar |

Vears DF, Gillam L (2022) Inductive content analysis: a guide for beginning qualitative researchers. Focus on Health Professional Education: A Multi-Professional Journal 23, 111-127.
| Crossref | Google Scholar |