The pregen research program: implementing prenatal genomic testing in australia-a commentary

Sarah Long; Deborah Schofield; Josh Kraindler; Rebecca Vink; Natalie Hart; Holly  Evans; Alyssa Wilson; Jon Hyett; Claire E. Wakefield; Lauren Kelada; Hamish S. Scott; Sebastian Lunke; Meaghan Wall; Michael F. Buckley; Gemma Fernihough; George McGillivray; Tony Roscioli

doi:10.1111/ajo.13936

The pregen research program: implementing prenatal genomic testing in australia-a commentary

Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Natalie Hart, Holly Evans, Alyssa Wilson, Jon Hyett, Claire E. Wakefield, Lauren Kelada, Hamish S. Scott, Sebastian Lunke, Meaghan Wall, Michael F. Buckley, Gemma Fernihough, George McGillivray, Tony Roscioli

Macquarie Business School

Research output: Contribution to journal › Article › peer-review

Abstract

Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.

Original language	English
Number of pages	5
Journal	Australian and New Zealand Journal of Obstetrics and Gynaecology
DOIs	https://doi.org/10.1111/ajo.13936
Publication status	E-pub ahead of print - 24 Mar 2025

Keywords

fetus
genetic counselling
genetic testing
pregnancy
prenatal diagnosis

Access to Document

10.1111/ajo.13936Licence: CC BY-NC-ND

Cite this

Long, S., Schofield, D., Kraindler, J., Vink, R., Hart, N., Evans, H., Wilson, A., Hyett, J., Wakefield, C. E., Kelada, L., Scott, H. S., Lunke, S., Wall, M., Buckley, M. F., Fernihough, G., McGillivray, G., & Roscioli, T. (2025). The pregen research program: implementing prenatal genomic testing in australia-a commentary. Australian and New Zealand Journal of Obstetrics and Gynaecology. Advance online publication. https://doi.org/10.1111/ajo.13936

@article{75b45be1cc5e45cb9b60b5577fd0f9d8,

title = "The pregen research program: implementing prenatal genomic testing in australia-a commentary",

abstract = "Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.",

keywords = "fetus, genetic counselling, genetic testing, pregnancy, prenatal diagnosis",

author = "Sarah Long and Deborah Schofield and Josh Kraindler and Rebecca Vink and Natalie Hart and Holly Evans and Alyssa Wilson and Jon Hyett and Wakefield, {Claire E.} and Lauren Kelada and Scott, {Hamish S.} and Sebastian Lunke and Meaghan Wall and Buckley, {Michael F.} and Gemma Fernihough and George McGillivray and Tony Roscioli",

year = "2025",

month = mar,

day = "24",

doi = "10.1111/ajo.13936",

language = "English",

journal = "Australian and New Zealand Journal of Obstetrics and Gynaecology",

issn = "0004-8666",

publisher = "Blackwell Publishing",

}

Long, S, Schofield, D, Kraindler, J, Vink, R, Hart, N, Evans, H, Wilson, A, Hyett, J, Wakefield, CE, Kelada, L, Scott, HS, Lunke, S, Wall, M, Buckley, MF, Fernihough, G, McGillivray, G & Roscioli, T 2025, 'The pregen research program: implementing prenatal genomic testing in australia-a commentary', Australian and New Zealand Journal of Obstetrics and Gynaecology. https://doi.org/10.1111/ajo.13936

TY - JOUR

T1 - The pregen research program

T2 - implementing prenatal genomic testing in australia-a commentary

AU - Long, Sarah

AU - Schofield, Deborah

AU - Kraindler, Josh

AU - Vink, Rebecca

AU - Hart, Natalie

AU - Evans, Holly

AU - Wilson, Alyssa

AU - Hyett, Jon

AU - Wakefield, Claire E.

AU - Kelada, Lauren

AU - Scott, Hamish S.

AU - Lunke, Sebastian

AU - Wall, Meaghan

AU - Buckley, Michael F.

AU - Fernihough, Gemma

AU - McGillivray, George

AU - Roscioli, Tony

PY - 2025/3/24

Y1 - 2025/3/24

N2 - Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.

AB - Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.

KW - fetus

KW - genetic counselling

KW - genetic testing

KW - pregnancy

KW - prenatal diagnosis

UR - http://www.scopus.com/inward/record.url?scp=105000655106&partnerID=8YFLogxK

U2 - 10.1111/ajo.13936

DO - 10.1111/ajo.13936

M3 - Article

C2 - 40123302

SN - 0004-8666

JO - Australian and New Zealand Journal of Obstetrics and Gynaecology

JF - Australian and New Zealand Journal of Obstetrics and Gynaecology

ER -

The pregen research program: implementing prenatal genomic testing in australia-a commentary

Abstract

Keywords

Access to Document

Other files and links

Cite this