PRiMo Trial

Using Polygenic Risk Modification to improve breast cancer prevention

Summary: PRiMo is a trial of the use of polygenic risk scores in clinical practice designed to identify the optimal method of assessing potentially high-risk women and personalising breast cancer risk management.

Hypothesis: Personalised assessment of the risk of breast cancer that includes the polygenic risk score, along with rare high/moderate-risk breast cancer genes, family history information and personal risk factors, will provide more effective targeted risk management that maximises cancer risk reduction while minimising the medical burden and adverse effects for patients and the cost to the health system.

Design: a randomised clinical trial of full genomic risk assessment for unaffected women from high-risk families referred to a specialist centre for assessment.

The trial compares an approach that counsels and recommends personalised management advice to women based on their assessed breast cancer risk, incorporating:

  • the modifying effects of common genomic variation (the PRS)
  • rare pathogenic variants, and
  • residual cancer family history,

…with the current ‘single gene’ risk assessments and management advice.

The trial involves national recruitment through the network of Australian Familial Cancer Centres. Personalised risk assessment will be implemented at FCCs through a standard protocol and patients randomised to standard care will have the option of crossing over to receive a PRS modified risk assessment at 1 year. 

Outcomes: Trial end-points include: differences in risk assessment, risk-management intentions and outcomes and prospective evaluation of the accuracy/calibration of risk assessment against clinical outcomes (cancer events).

Additional assessments include a program of patient-focused evaluations to assess acceptability/feasibility of PRiMo risk assessment, and a health services evaluation simulating lifetime outcomes and cost-effectiveness.

The trial is registered on ANZCTR: ACTRN12621000009819

Chief Investigators

Prof Paul James
Chief Investigator and Coordinating Principal Investigator
Director, Parkville Familial Cancer Centre & Genomic Medicine,

Peter MacCallum Cancer Centre & Royal Melbourne Hospital

Prof Georgia Chenevix-Trench
Senior Scientist,

QIMR Berghofer Medical Research Institute

Mary-Anne Young
Head, Kinghorn Centre for Clinical Genomics (Clinical),

Garvan Institute of Medical Research

Prof Melissa Southey
Chair, Precision Medicine; Director Research, Monash Partners Comprehensive Cancer Consortium

School of Clinical Sciences at Monash Health, Monash University

Investigators & Researchers

Joanne McKinley, Dr Lara Petelin, Dr Laura Forrest, Lyon Mascarenhas, Rebecca Purvis, Sharne Limb, Simone McInerny | Parkville Familial Cancer Centre Research Group, Peter MacCallum Cancer Centre

Dr Amanda Willis, Angela Pearce, Lucas Mitchell, Steven He | Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research

Chathu Jayawardana, Helen Tsimiklis, Fleur Hammet | Precision Medicine Laboratory, School of Clinical Sciences at Monash Health, Monash University

Prof Melanie Bahlo, Dr Samaneh Farashi | The Walter and Eliza Hall Institute of Medical Research

Site Principal & Associate Investigators

Dr Abi Ragunathan, A/Prof Judy Kirk | Familial Cancer Service, Westmead Hospital

Dr Ainsley Campbell, Jasmina Bojadzieva, Lucinda Salmon*| Clinical Genetics Service, Austin Health

Dr Annabel Goodwin, Rebecca Harris,| Department of Cancer Genetics, Royal Prince Alfred Hospital

Camron Ebzery, Dr Helen Mar Fan, Rachel Austin, Carol-Ann Verrenkamp, Melanie Boon, Belinda Creighton, Bree Ryan, Rozanna Alli, Simon Troth, Dr Di Milnes* | Genetic Health Queensland, Royal Brisbane and Women's Hospital

Dr Eryn Dow, Dr Nicola Poplawski, Jacqueline Armstrong | Adult Genetics Unit, Royal Adelaide Hospital

A/Prof Kathy Tucker, Rachel Williams, Dr Lesley Andrews | Hereditary Cancer Clinic, Prince of Wales Hospital

A/Prof Marion Harris, Courtney Smyth | Familial Cancer Centre, Monash Health

Dr Mathew Wallis, Denisse Garza | Tasmanian Clinical Genetics Service, Royal Hobart Hospital

Dr Michael Field, Dr Georgina Schlub | Family Cancer Service, Royal North Shore Hospital

A/Prof Nicholas Pachter, Dr Gargi Pathak | Familial Cancer Program, Genetics Services of Western Australia

Prof Paul JamesProf Ingrid Winship, Dr Michael Bogwitz, Alexandra Lewis, Tiffany O'Brien, Shelby Taylor, Joanne Isbister | Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre & Royal Melbourne Hospital

A/Prof Yoland Antill, Dr Lynne McKay, Dr Lucy Gately, A/Prof Lara Lipton | Familial Cancer Clinic, Cabrini Health

*Former investigators

Development of Training and Education Program

Dr Tatiane Yanes, Dr Aideen McInerney-Leo, Dr Amanda Willis, Bronwyn Terrill, Courtney Wallingford, Dr Holly Keane, Dr Laura Forrest, Lauren McKnight, Mary-Anne Young, Dr Maatje Scheepers-Joynt, Prof Paul James, Rachel Williams, Simone McInerny

Pathology Laboratory Service Providers

Peter MacCallum Cancer Centre, Pathology Queensland, NSW Pathology, SA Pathology, PathWest

The trial will be offered to unaffected women who have been referred to a participating specialist service (Familial Cancer Clinic) in Australia for predictive testing for a pathogenic variant in a high or moderate risk breast (+/- ovarian) cancer-associated gene (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51C, RAD51D) previously detected in a genetic relative.


Department of Medical Genomics
Royal Prince Alfred Hospital

Camperdown NSW 2050

Familial Cancer Service
Royal North Shore Hospital

St Leonards NSW 2065

Familial Cancer Service
Westmead Hospital

Westmead NSW 2145

Hereditary Cancer Centre
Prince of Wales Hospital

Randwick NSW 2031

Genetic Health Queensland
Royal Brisbane & Women’s Hospital

Herston QLD 4029

Adult Genetics Unit
Central Adelaide Local Health Network
Royal Adelaide Hospital

Adelaide SA 5000

Tasmanian Clinical Genetics Service
Royal Hobart Hospital

Hobart TAS 7000

Clinical Genetics Service
Austin Health

Heidelberg VIC 3084

Family Cancer Clinic
Cabrini Health

Malvern VIC 3144

Familial Cancer Centre
Monash Health

Clayton VIC 3168

Parkville Familial Cancer Centre
Peter MacCallum Cancer Centre & Royal Melbourne Hospital

Melbourne VIC 3000

Familial Cancer Clinic
Barwon Health & Royal Melbourne Hospital

Melbourne VIC 3000

Familial Cancer Program
Genetic Services of Western Australia
King Edward Memorial Hospital

Subiaco WA 6008

This research is supported by Love Your Sister in association with the National Breast Cancer Foundation, Australia.

[email protected]

Ph: 03 8559 6190

FCC, Peter Mac
Locked Bag 1
A’Beckett Street
Melbourne VIC 8006
Lyon Mascarenhas, Study Coordinator
Simone McInerny, Project Manager