Eu opean Jou nal o Public Heal h, 1–3
ßThe Au ho 2014. Published by Ox o d Uni e si y P ess on behal o he Eu opean Public Heal h Associa ion.
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Beyond public heal h genomics: p oposals om an in e na ional wo king
g oup
Ad ances in genomics ha e c ucial implica ions o public heal h,
o e ing new ways o di e en ia ing indi iduals and g oups wi hin
popula ions ha go beyond he measu es no mally used by public
heal h p o essionals, such as gende , age, socio-economic s a us,
physiological measu emen s o clinical bioma ke s.
1
While public
heal h has adi ionally been conce ned wi h in e en ions a a
popula ion le el, genomic medicine seems o p omo e a ision o
heal h ca e ha encou ages indi idualism a he han collec i ism.
2
This ension is appa en in weighing up i s consequences. Thus, i
may b ing bene i s in s a i ying indi iduals acco ding o gene ic
isk, enabling be e a ge ing o p e en i e and he apeu ic in e -
en ions. Bu i may also ha e ha m ul consequences unde mining
he impe a i e o ackle social and en i onmen al de e minan s o
disease and he collec i e p o ision o heal h ca e po en ially leading
o o e diagnosis/o e ea men ; i may agmen he isk pooling
ha unde pins social solida i y; and i may inc ease he p obabili y
o s igma iza ion and disc imina ion.
Consequen ly, he public heal h communi y, wi h i s commi men
o equi y, mus ake he oppo uni y o engage wi h genomic
knowledge, ensu ing ha i ad ances he popula ion’s heal h.
These issues we e explo ed in Janua y 2014 a he inaugu al
mee ing o an in e na ional wo king g oup on ‘Beyond Public
Heal h Genomics’, con ening leading expe s in genomics, public
heal h, clinical sciences, sys ems medicine, law and bioe hics, om
many disciplines and coun ies, a he Uni e si a
`Ca olica del Sac o
Cuo e in Rome. I s goal, inspi ed by he 2005 Bellagio s a emen on
public heal h genomics, de ined as he ‘ esponsible and e ec i e
ansla ion o genome-based disco e y in o popula ion heal h,
3
was o gene a e high alue-based p oposals o os e he e idence
base o implemen ing genomic disco e ies in public heal h policy
and p ac ice, and o ensu e necessa y ac ion while accoun ing o he
challenge o needing o und hese wo ks eams in he cu en
en i onmen o diminishing esou ces.
The con ibu ion o genomics o heal h is in h ee main a eas. The
i s is he abili y o go beyond adi ional pheno ypes using gene ic
and molecula cha ac e is ics as a basis o diagnosis and disease
classi ica ion. Sequencing and o he molecula echnologies may
acili a e he diagnosis in di icul cases, such as child en bo n
wi h lea ning disabili y o de elopmen al delay. Newbo n
sc eening p og ammes enable ea ly diagnosis and ea men o a
ange o a e inhe i ed me abolic condi ions be o e clinical p esen-
a ion, he eby imp o ing leng h and quali y o li e o a ec ed
child en. Cance s may now be subdi ided in o di e en ypes
acco ding o hei gene ic o molecula signa u e, as can diabe es,
sudden ca diac dea h and a ange o o he condi ions. Fo example,
women wi h BRCA1 mu a ions may be iden i ied h ough gene ic
es ing wi h a iew o o e mo e in ensi e p e en i e op ions,
including mammog aphic sc eening, chemo he apy o p ophylac ic
su ge y.
The second is o guide ea men , he i s eme ging a ea being
ha o pha macogenomics. The abili y o e ine diagnos ic
ca ego ies will allow speci ic ea men s, whe he in oncology,
ca diology o diabe es ca e. I may also be possible o di e en ia e
pa ien s acco ding o how hey me abolize d ugs mo e accu a ely
ailo ing he dosages, o o asce ain hose a g ea es isk o ad e se
d ug eac ions. This has ob ious bene i s no only o he pa ien bu
also he heal h-ca e sys em as a whole because esou ces will p o ide
only he mos e ec i e ea men s, hus imp o ing ou comes and
educing was e.
The hi d is o s a i y popula ions acco ding o disease isk o
esis ance so as o maximize bene i s o p e en ion p og ammes,
using algo i hms compu ed om bo h gene ic and non-gene ic
pa ame e s. This app oach, some imes e med gene ic p o iling, is
in i s in ancy and i s u ili y has ye o be shown, as indi iduals who
ca y mul iple isk alleles and a high isk o disease will likely
cons i u e only a small pe cen age o he popula ion.
The pa icipan s no ed a ou h con ibu ion esul ing om he
app op ia e use o pa hogen genomics in in ec ious disease con ol,
bu wi h he mee ing’s ocus on human genomics, i s con ibu ion
was no u he discussed.
To da e, genomics has had only limi ed impac on heal h policy
and p ac ice. Khou y e al.
4
ha e desc ibed genomic esea ch as
alling on a con inuum om he ini ial disco e y (T0) o T1,
de eloping candida e heal h applica ions; T2, e alua ing i s applica-
ions and de eloping e idence-based ecommenda ions; T3,
in eg a ing e idence-based ecommenda ions in o heal h ca e and
p e en ion; and inally T4, assessing heal h ou comes and
popula ion impac . They no ed ha he as majo i y o published
esea ch emains in he disco e y phase, wi h a ew making i o he
ea ly s ages o ansla ion. Bu since ha pape was w i en and
published, science and echnology ha e ad anced apidly.
No wi hs anding equen calls o suppo mo e ansla ional
esea ch and ac ual implemen a ion o p o en genomic in e en-
ions, in eali y, he e ha e been ew e o s o e alua e ecen
disco e ies o see whe he hey a e e ec i e in he eal wo ld and,
i so, o whom and in which ci cums ances.
5
E ans and colleagues ha e p oposed some ways in which he
po en ial o public heal h genomics migh be ealized.
6
Rapid and
inexpensi e sequencing o genes can iden i y indi iduals ca ying
indi idually a e mu a ions ha con e subs an ial p edisposi ion
o p e en able diseases. Examples include use o BRCA1 and
BRCA2 gene es ing o he edi a y b eas cance : hei combined
p e alence is a ound 0.2–0.3% o he gene al popula ion, bu hey
con e a >70% li e ime isk o b eas and o a ian cance . Also, he
ou Lynch-associa ed genes a e p esen in 0.2% o subjec s and
con e >80% li e ime isk o colon cance , wi h po en ial isk
educ ion by colonoscopy and p ophylac ic aspi in ea men .
These a e ob ious candida es o u he e alua ion o assess
whe he he e is a case o hei wide use, d awing on he
expe ience wi h some exis ing neona al sc eening p og ammes,
such as ha o phenylke onu ia, whe e he p e alence o he
gene ic diso de is much a e .
7
Ne e heless, i is clea ha such
p oposals should be subjec ed o igo ous e alua ion using he
sc eening c i e ia amewo ks usually used o sc eening
p og amme decisions.
We ha e al eady no ed ha he use o gene ic p o iling o
p e en ion o common diso de s p esen s majo challenges, no
leas because a p esen he e is li le e idence ha be e
knowledge o one’s gene ic makeup will lead o beha iou change
enhancing heal h i he unde lying isk is no e y high.
8
Wo se, i
The Eu opean Jou nal o Public Heal h Ad ance Access published Augus 27, 2014
a Uni e si y o Deb ecen, Facul y o Medicine, Cen al Lib a y on Sep embe 10, 2014h p://eu pub.ox o djou nals.o g/Downloaded om
may engende a alism and anxie y. O he key issues o be add essed
include judgemen s abou equi y, se ice e ec i eness and
p io i iza ion. Bu , he lack o e idence o u ili y is no he same
as e idence o disu ili y, and he e may in he u u e be oom o
e ine and in eg a e genomic in o ma ion o he p e en ion o
common complex diso de s.
So is he inco po a ion o genomics o p e en ion and public
heal h use a pa adigm shi in public heal h o a ma ginal
inc emen ? The in e na ional wo king g oup ecognizes ha he
gene ic cha ac e is ics o an indi idual o a popula ion a e only
one se o ac o s ha will de e mine he pa e n and dis ibu ion
o heal h and disease. Mos ob iously, he e is a need o unde s and
gene–en i onmen in e ac ions, exempli ied by a ecen pape ha
demons a ed he in e ac ion be ween a genome-de i ed isk sco e
and consump ion o ied oods in inc easing he p obabili y o
becoming obese.
9
Howe e , his is s ill based on single genes,
whe eas he ob ious nex s ep o ackle complex o ms o disease
will be o in ol e mul iple genes and en i onmen al ac o s.
Fu he , he public heal h communi y can in eg a e his wo k wi h
con ibu ions om o he ‘omics’, including he ela ed ields o
epigenomics, p o eomics and me abolomics, no ing, o cou se,
ha all o hese ac o s a e embedded wi hin he b oade social
and economic de e minan s o heal h. The e is a co esponding
need o hose wo king a he molecula le el o add ess he social
and economic de e minan s o public heal h, and o acknowledge
he con ibu ion o exis ing clinical in e en ions, he combined
e ec s o which ha e achie ed a decline o up o 50% in ca dio as-
cula dea hs in he pas h ee decades in many indus ialized
coun ies.
Ou p oposal is he e o e a call o g ea e engagemen by hose
om public heal h, wi h gene icis s and scien is s o engage wi h
mode n genomic and molecula science o de elop e idence-based
app oaches o add essing ansla ional ba ie s o he kind
iden i ied abo e. Two a eas o esea ch we e iden i ied as low-
hanging ui :
E ec i eness and cos -e ec i eness esea ch o new genomics-
based app oaches
Implemen a ion esea ch ha aims o assis he decision-making
p ocesses in genomic medicine and i s use in disease p e en ion
Ou wi h he esea ch agenda, p ac ical solu ions o e ec i ely
ansla e esea ch indings wi hin heal h sys ems will also be
needed. This will mean in es men h ough a sepa a e unding
s eam o ensu e ha he ui s o such esea ch a e ac ually ac ed
upon and implemen ed in he eal wo ld o policy make s, clinical
p ac i ione s and heal h se ice manage s, a communi y wi h
di e en objec i es, ewa d s a egies and cul u e. Addi ionally,
changes will be needed in he p ac ice o public heal h ha aim o
in eg a e ad ances in genomics in o public heal h compe encies and
aining, and o es ablish app op ia e policy and e hical amewo ks
o ensu e ha genomic echnologies and in o ma ion imp o e
heal h ac oss all segmen s o he popula ion.
In conclusion, he e may be po en ial o educe he bu den o
disease and imp o e popula ion heal h h ough genomics, bu we
belie e ha i will be mos success ul i i is de eloped as a na u al
ex ension o adi ional public heal h app oaches. Achie ing o al
in eg a ion o he wo will equi e ha p ac i ione s wo k
oge he . Decision-make s in heal h and science policy may be
eluc an o engage no leas because o ea o he inancial and
o ganiza ional implica ions o inno a ion. Academics may also
ha e a simila eluc ance because o hei ocus on esea ch and
lack o a en ion o he implica ions o indings o public policy.
Public heal h p o essionals ha e a du y o engage in his agenda.
O he wise, he e is a dange ha he ield will be open o hose
whose mo i a ions a e p ima ily comme cial and incompa ible wi h
no ions o equi y and he p omo ion o heal h o all. Ho izon 2020
challenges esea che s in he ield o public heal h o ake public
heal h in o he genomics e a, in pa icula h ough i s heme o
‘Pilo ing pe sonalized medicine in o heal h and ca e sys ems’.
10
The public heal h and policy communi ies ha e no eal al e na i e
bu o engage; he ailu e o do so can ha e only ad e se conse-
quences o popula ion heal h.
Funding
A.C.T. was pa ially suppo ed by unds om he Eu opean
Commission FP7 p ojec s ESGI (Eu opean Sequencing and
Geno yping In as uc u e, GA 262055), 3Gb-TEST (In oducing
diagnos ic applica ions o 3Gb-TEST in human gene ics, GA
602269), CAGEKID (Cance Genomics o he Kidney, GA 241669)
Eu oTARGET (Eu opean collabo a i e p ojec on TA ge ed he apy
in Renal cell cance : GEne ic and Tumou - ela ed bioma ke s o
esponse and oxici y, GA 259939). Uni e si a
`Ca olica del Sac o
Cuo e was suppo ed om Linea D1-2013. E.M.M. was suppo ed
by UL1RR025761-01/NIH Indiana Clinical and T ansla ional
Sciences Ins i u e; Pie e de Fe ma Chai e d’Excellence P og am,
Midi-Py e
´ne
´es Regional Council, F ance; S a e G an s o P omo e
Heal h In o ma ion Technology (Heal h In o ma ion Exchange
Challenge P og am) US O ice o he Na ional Coo dina ion o
Heal h In o ma ion, Awa d No: 90HT0054/01, CFDA. R.Z. and
H.B. a e unded by he PHG Founda ion. The PHG Founda ion is
he wo king name o he Founda ion o Genomics and Popula ion
Heal h, a cha i able company egis e ed in England and Wales:
Cha i y No 118664, Company No 5823194. BMK is unded by
Genome Quebec.
Disclaime : The opinions by au ho s o his pape do no e lec he
o icial posi ion o he Cen e s o Disease Con ol and P e en ion.
Re e ences
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Heal h 2014;24:349–50.
2 Zimme n RL, Khou y MJ. The impac o genomics on public heal h p ac ice: he
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3 Bu ke W, Khou y MJ, S ewa A, e al. The pa h om genome-based esea ch o
popula ion heal h: de elopmen o an in e na ional public heal h genomics ne wo k.
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4 Khou y MJ, Gwinn M, Yoon PW, e al. The con inuum o ansla ion esea ch in
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genome disco e ies in o heal h ca e and disease p e en ion? Gene Med
2007;9:665–74.
5 Khou y MJ, Coa es RJ, Fennell ML, e al. Mul ile el esea ch and he challenges o
implemen ing genomic medicine. J Na l Cance Ins Monog 2012;2012:112–20.
6 E ans JP, Khou y MJ. The a i al o genomic medicine o he clinic is only he
beginning o he jou ney. Gene Med 2013;15:268–9.
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´cal K, Bo y P, A a d D. Whole-genome sequencing in newbo n
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disease isk es ima es on isk- educing beha iou s. Coch ane Da abase Sys Re 2010:
CD007275.
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10 Eu opean Commission. h p://ec.eu opa.eu/p og ammes/ho izon2020/en/h2020-
sec ion/heal h-demog aphic-change-and-wellbeing (20 Ap il 2014, da e las
accessed).
S e ania Boccia
1
, Ma in Mc Kee
2
, Roza Adany
3
, Paolo Bo e a
4
,
Hila y Bu on
5
, Anne Cambon-Thomsen
6
, Ma ina C. Co nel
7
, Mui G ay
8
,
Anan Jani
8
, Ba ha Ma ia Knoppe s
9
, Muin J. Khou y
10
, E ic M. Meslin
11
,
Co nelia M. Van Duijn
12
, Paolo Villa i
13
, Ron Zimme n
14
, Al edo Cesa io
15
,
Anna Puggina
1
, Ma co Colo o
1
, Wal e Riccia di
1
2o 3 Eu opean Jou nal o Public Heal h
a Uni e si y o Deb ecen, Facul y o Medicine, Cen al Lib a y on Sep embe 10, 2014h p://eu pub.ox o djou nals.o g/Downloaded om
1
Sec ion o Hygiene-Depa men o Public Heal h-Facul y o Medicine,
Uni e si a
`Ca olica del Sac o Cuo e, Rome, I aly,
2
Depa men o Heal h
Se ices Resea ch and Policy, London School o Hygiene and T opical Medicine,
UK,
3
Depa men o P e en i e Medicine, Facul y o Public Heal h, Uni e si y
o Deb ecen, Hunga y,
4
Ins i u e o T ansla ional Epidemiology and Tisch
Cance Ins i u e, Icahn School o Medicine a Moun Sinai, New Yo k, NY,
USA,
5
PHG Founda ion, Camb idge, UK,
6
Ins i u Na ional de la San e
´e de la
Reche che Me
´dicale and Uni e si e
´Toulouse III Paul Saba ie , Join Uni 1027
‘‘Epidemiology and analyses in public heal h’’, Facul y o Medicine, Toulouse,
F ance,
7
Clinical Gene ics & EMGO Ins i u e o Heal h and Ca e Resea ch, VU
Uni e si y Medical Cen e , Ams e dam, The Ne he lands,
8
Be e
ValueHeal hCa e, UK,
9
Cen e o Genomics and Policy, Facul y o Medicine,
Depa men o Human Gene ics, McGill Uni e si y, Mon eal, Canada,
10
CDC
O ice o Public Heal h Genomics, A lan a, USA,
11
Indiana Uni e si y Cen e
o Bioe hics, School o Medicine, Indianapolis, USA,
12
Gene ic Epidemiology
Uni , Depa men s o Epidemiology and Clinical Gene ics, E asmus Uni e si y
Medical Cen e , Ro e dam, Ne he lands,
13
Depa men o Public Heal h and
In ec ious Diseases, ‘‘Sapienza ‘‘Uni e si y o Rome, Rome, I aly,
14
PHG
Founda ion, Camb idge, UK and
15
A ea o Sys ems Medicine, IRCCS San
Ra aele Pisana, Rome, I aly
Co espondence: Wal e Riccia di, Sec ion o Hygiene-Depa men o
Public Heal h-Facul y o Medicine, Uni e si a
`Ca olica del Sac o Cuo e,
L.go F. Vi o, 1 – 00168 Rome, I aly, Ph-Fax: 0039-(0)6-30154396,
e-mail: [email p o ec ed]
doi:10.1093/eu pub/cku142
Commen a y 3o 3
a Uni e si y o Deb ecen, Facul y o Medicine, Cen al Lib a y on Sep embe 10, 2014h p://eu pub.ox o djou nals.o g/Downloaded om