Evidence map›Paper›PMID 42644074›Full record

ArticleNature health2026

Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.

Paul Lacaze, Jane Tiller, Adam Brotchie, Tu Nguyen-Dumont, Jason Steen, Dan Belluoccio, Mary-Anne Young, Amanda M Willis, Lucas A Mitchell, Bronwyn Terrill and 29 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Paul LacazeSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Jane TillerSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Adam BrotchieSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Tu Nguyen-DumontClinical Genomics, School of Translational Medicine, Monash University, Melbourne, VIC, Australia.
Jason SteenClinical Genomics, School of Translational Medicine, Monash University, Melbourne, VIC, Australia.
Dan BelluoccioPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
Mary-Anne YoungClinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Amanda M WillisClinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Lucas A MitchellClinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Bronwyn TerrillClinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Kristen J NowakOffice of Population Health Genomics, Western Australia Department of Health, Perth, WA, Australia.
Belinda BurnsOffice of Population Health Genomics, Western Australia Department of Health, Perth, WA, Australia.
Ari E HortonSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Stephen J NichollsMonash Victorian Heart Institute, Monash University, Victoria, Australia; Cardiovascular Genomics, Monash Health, Victoria, Australia.
Zanfina AdemiHealth Economics and Policy Evaluation Research Group, Centre for Medicine Use and Safety, Faculty of Pharmacy and Pharmaceutical Sciences, Parkville, Australia.
Robert C GreenMass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School.
Ranjit ManchandaWolfson Institute of Population Health, Queen Mary University, Department of Gynaecological Oncology, Barts Health NHS Trust, Royal London Hospital.
Bryony A ThompsonDepartment of Pathology, Royal Melbourne Hospital, Melbourne, VIC, Australia.
David ThomasCentre for Molecular Oncology, University of New South Wales, Sydney, NSW, Australia; Omico, the Australian Genomic Cancer Medicine Centre, Kensington, NSW.
Roger L MilnePrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
Fiona BruinsmaCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Martin B DelatyckiThe University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
Jing PangLipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
Gerald F WattsLipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
Finlay MacraeDepartment of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Medicine, University of Melbourne, Parkville, VIC, Australia.
Nicola PoplawskiAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Judy KirkFamilial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, New South Wales, Australia.
Kathy TuckerHereditary Cancer Clinic, Prince of Wales Hospital, Randwick, New South Wales, Australia; Prince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.
Lesley AndrewsHereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, Australia; School of Medicine and Public Health, University of Newcastle, Callaghan, NSW, Australia.
Mathew WallisTasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia. School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
Rachel SusmanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Nicholas PachterGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
David SullivanDepartment of Chemical Pathology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, Australia.
Abiramy RagunathanFamilial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia.
Paul JamesParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
John ZalcbergSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
John J McNeilSchool of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
Ingrid WinshipParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.

Funding

Return of Genomic Results and Estimating Penetrance in Population-Based CohortsR01HL143295 · NHLBI · BROAD INSTITUTE, INC. · PI CARSON, APRIL P, GREEN, ROBERT C. · 2019 to 2022
$7.2M
Experiences and Outcomes in Early Adopters of Predispositional SequencingR01HG009922 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2018 to 2020
$2.6M
Impact of Direct to Consumer Genetic TestingR01HG005092 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., ROBERTS, SCOTT · 2010 to 2012
$1.1M
NHGRI NIH HHS R01 HG005092NHGRI NIH HHS R01 HG009922NHLBI NIH HHS R01 HL143295
6 · The paper itself

Abstract

Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. Informed by prior cost-effectiveness modelling, we conducted a prospective nationwide pilot targeting young adults in Australia (aged 18 to 40 years), offering genomic screening for 10 genes linked to hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. Of 30,017 registrants, 18,573 were invited and 10,263 completed genomic screening (median age 31.9 years; 45.5% men; 30.0% culturally or linguistically diverse). We detected pathogenic/likely pathogenic variants in 202 (2.0%). Of the 189 referred for clinical follow-up, 97.9% accepted and 87.3% attended appointments. Notably, 74.5% of attendees were ineligible for government-funded criteria-based genomic testing. Our findings demonstrate the feasibility of adult population genomic screening, including high public engagement, clinical uptake, and identification of individuals ineligible for current criteria, supporting the further development of adult population genomic screening in Australia.

Identifiers

PMID42644074
PMCPMC13505400

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.