The prospect of healthcare systems offering population-based preventive genomic testing to all adults is becoming feasible. Some single-payer or state-funded healthcare systems are already considering offering universal testing as part of routine care. In countries with public healthcare systems, there is a unique opportunity to provide such testing in the form of a national screening program, following existing national population health-screening frameworks. This paradigm, if achievable, could help deliver a degree of testing quality and equity-of-access that may not be possible in private-payer or direct-to-consumer models, to maximize prevention and health benefits. Here, we outline some of the major challenges ahead in considering this prospect and discuss the research that is helping shape the future direction in Australia and elsewhere.

1.
Zhang
L
,
Bao
Y
,
Riaz
M
, et al
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
Genetics in medicine : official journal of the American College of Medical Genetics.
2019
.
2.
Carey
DJ
,
Fetterolf
SN
,
Davis
FD
, et al
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
Genetics in medicine : official journal of the American College of Medical Genetics.
2016
;18(9):906-13.
3.
Schwartz
ML
,
McCormick
CZ
,
Lazzeri
AL
,
Lindbuchler
DM
,
Hallquist
ML
,
Manickam
K
, et al
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
.
Am J Hum Genet
.
2018
Sep
;
103
(
3
):
328
37
.
[PubMed]
0002-9297
4.
Grzymski
J
,
Elhanan
G
,
Smith
E
, et al
Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
.
bioRxiv
.
2019
;
•••
:
650549
.
5.
Turnbull
C
,
Scott
RH
,
Thomas
E
,
Jones
L
,
Murugaesu
N
,
Pretty
FB
, et al;
100 000 Genomes Project
.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
.
BMJ
.
2018
Apr
;
361
:
k1687
.
[PubMed]
0959-8138
6.
Leitsalu
L
,
Haller
T
,
Esko
T
,
Tammesoo
ML
,
Alavere
H
,
Snieder
H
, et al
Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu
.
Int J Epidemiol
.
2015
Aug
;
44
(
4
):
1137
47
.
[PubMed]
0300-5771
7.
Stark
Z
,
Dolman
L
,
Manolio
TA
,
Ozenberger
B
,
Hill
SL
,
Caulfied
MJ
, et al
Integrating Genomics into Healthcare: A Global Responsibility
.
Am J Hum Genet
.
2019
Jan
;
104
(
1
):
13
20
.
[PubMed]
0002-9297
8.
Gaff
CL
,
M Winship
I
,
M Forrest
S
,
P Hansen
D
,
Clark
J
,
M Waring
P
, et al
Preparing for genomic medicine: a real world demonstration of health system change
.
NPJ Genom Med
.
2017
May
;
2
:
16
.
[PubMed]
2056-7944
9.
Rowley
SM
,
Mascarenhas
L
,
Devereux
L
, et al
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Genetics in medicine : official journal of the American College of Medical Genetics.
2018
.
10.
Lacaze
P
,
Woods
R
,
Zoungas
S
,
McNeil
J
;
ASPREE Investigator Group
;
ASPREE Healthy Ageing Biobank
;
and the STAREE Investigator Group
.
The genomic potential of the Aspirin in Reducing Events in the Elderly and Statins in Reducing Events in the Elderly studies
.
Intern Med J
.
2017
Apr
;
47
(
4
):
461
3
.
[PubMed]
1444-0903
11.
Haer-Wigman
L
,
van der Schoot
V
,
Feenstra
I
,
Vulto-van Silfhout
AT
,
Gilissen
C
,
Brunner
HG
, et al
1 in 38 individuals at risk of a dominant medically actionable disease
.
Eur J Hum Genet
.
2019
Feb
;
27
(
2
):
325
30
.
[PubMed]
1018-4813
12.
Lazarin
GA
,
Haque
IS
,
Nazareth
S
, et al
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in medicine : official journal of the American College of Medical Genetics.
2013
;15(3):178-86.
13.
Manchanda
R
,
Patel
S
,
Gordeev
VS
,
Antoniou
AC
,
Smith
S
,
Lee
A
, et al
Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women
.
J Natl Cancer Inst
.
2018
Jul
;
110
(
7
):
714
25
.
[PubMed]
0027-8874
14.
Kuchenbaecker
KB
,
Hopper
JL
,
Barnes
DR
,
Phillips
KA
,
Mooij
TM
,
Roos-Blom
MJ
, et al;
BRCA1 and BRCA2 Cohort Consortium
.
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
.
JAMA
.
2017
Jun
;
317
(
23
):
2402
16
.
[PubMed]
0098-7484
15.
Møller
P
,
Seppälä
TT
,
Bernstein
I
,
Holinski-Feder
E
,
Sala
P
,
Gareth Evans
D
, et al;
Mallorca Group
.
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
.
Gut
.
2018
Jul
;
67
(
7
):
1306
16
.
[PubMed]
0017-5749
16.
Soerjomataram
I
,
Lortet-Tieulent
J
,
Ferlay
J
,
Forman
D
,
Mathers
C
,
Parkin
DM
, et al
Estimating and validating disability-adjusted life years at the global level: a methodological framework for cancer
.
BMC Med Res Methodol
.
2012
Aug
;
12
(
1
):
125
.
[PubMed]
1471-2288
17.
Vos
T
,
Flaxman
AD
,
Naghavi
M
,
Lozano
R
,
Michaud
C
,
Ezzati
M
, et al
Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
.
Lancet
.
2012
Dec
;
380
(
9859
):
2163
96
.
[PubMed]
0140-6736
18.
Tiller
J
,
Morris
S
,
Rice
T
, et al
Genetic discrimination by Australian insurance companies: a survey of consumer experiences
.
Eur J Hum Genet
.
2019
.1018-4813
19.
Erlich
Y
,
Shor
T
,
Pe’er
I
,
Carmi
S
.
Identity inference of genomic data using long-range familial searches
.
Science
.
2018
Nov
;
362
(
6415
):
690
4
.
[PubMed]
0036-8075
20.
Benusiglio
PR
,
Di Maria
M
,
Dorling
L
,
Jouinot
A
,
Poli
A
,
Villebasse
S
, et al
Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling
.
Fam Cancer
.
2017
Jan
;
16
(
1
):
51
6
.
[PubMed]
1389-9600
21.
Cooper
DN
,
Krawczak
M
,
Polychronakos
C
,
Tyler-Smith
C
,
Kehrer-Sawatzki
H
.
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
.
Hum Genet
.
2013
Oct
;
132
(
10
):
1077
130
.
[PubMed]
0340-6717
22.
Directors ABo
. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics.
2019
.
23.
Rehm
HL
,
Berg
JS
,
Brooks
LD
,
Bustamante
CD
,
Evans
JP
,
Landrum
MJ
, et al;
ClinGen
.
ClinGen—the Clinical Genome Resource
.
N Engl J Med
.
2015
Jun
;
372
(
23
):
2235
42
.
[PubMed]
0028-4793
24.
Landrum
MJ
,
Lee
JM
,
Riley
GR
,
Jang
W
,
Rubinstein
WS
,
Church
DM
, et al
ClinVar: public archive of relationships among sequence variation and human phenotype
.
Nucleic Acids Res
.
2014
Jan
;
42
(
Database issue
):
D980
5
.
[PubMed]
0305-1048
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.