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RMGA Statement of Principles on the Return of Research Results and Incidental Findings

March 2013

DOI:10.13140/RG.2.1.3215.8567

Affiliation: Centre of Genomics and Policy - Université McGill

Authors:

Karine Sénécal

McGill University

Conrad Vincent Fernandez

IWK Health Centre

Anne Marie Tassé

Public Population Project in Genomics and Society (P3G)

Show all 7 authorsHide

The Network of Applied Genetic Medicine (hereafter RMGA) of the Fonds de la Recherche en Santé du Québec herein puts forward a "Statement of Principles on the Return of Research Results and Incidental Findings." These principles will guide RMGA researchers, and researchers across Québec, in the planning and execution of genetic and genomic research projects. More precisely, the Statement intends to be a guide for the management and the communication of research results, and addresses research projects in genetics and genomics.

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Biobank:!,2!()D62/R$0!3(..$3&/(2!(+!#=A62!?/(.(D/36.!A6&$)/6.!620!6::(3/6&$0!/2+()A6&/(2G!

:&()$0!+()!(2$!()!A()$!)$:$6)3#!-=)-(:$:ENT!!

Clinical! utility:! "#$! K6.=$! (+! &#$! )$:=.&:! /2! D=/0/2D! &#$! -6)&/3/-62&Q:!3#(/3$:! )$D6)0/2D!

-)$K$2&/(2!()! &#$)6-$=&/3! :&)6&$D/$:ENU!"#$! 6::$::A$2&! (+!=&/./&J!)$O=/)$:! 3(2:/0$)6&/(2!(+!

&#$!?$2$+/&:!?=&! 6.:(!(+!&#$! -(&$2&/6.! )/:*:!6::(3/6&$0! '/&#!&#$! *2('.$0D$!(+!&#$!)$:=.&!()!

/2&$)K$2&/(2E!

1$2$)6..JG! &#$! 3)/&$)/6! 3(2:/0$)$0! +()! 0$&$)A/2/2D! &#$! 3./2/36.! =&/./&J! (+! 6! )$:=.&! A6J! ?$!

D)(=-$0!/2!&'(!?)(60!36&$D()/$:NVe!

L8 M)/&$)/6!3(23$)2/2D!&#$!)$:=.&e!

68! &#$! @:$)K/3$! )$20$)$0F! 5/2! -6)&/3=.6)! &#$! K6.=$! (+! &#$! )$:=.&! &(! 0$&$)A/2$! &#$!

-(::/?.$!A$0/36.!A$6:=)$:!/2!&$)A:!(+!-)$K$2&/(2!()!&)$6&A$2&8P!620!!

?8!&#$!3(2&$H&!/2! '#/3#!&#$!)$:=.&!/:! (++$)$0!56K6/.6?/./&J!(+!&)$6&A$2&!()!-)$K$2&/(2!

:&)6&$DJ8P!

N8 M)/&$)/6!)$.6&/2D!&(!&#$!-6)&/3/-62&e!&#$!A$6:=)$!(+!&#$!3./2/36.!=&/./&J!(+!6!)$:=.&!A6J!

K6)J! +)(A! (2$! -6)&/3/-62&! &(! 62(&#$)! 50$-$20/2D! (2! &#$!-6)&/3/-62&Q:!:/&=6&/(28E! ;(3/6.!

620!3=.&=)6.!6:-$3&:!:#(=.0!6.:(!?$!&6*$2!/2&(!633(=2&ENW!

Clinical! validity:! 4$6:=)$A$2&! (+! &#$! 633=)63J! '/&#! '#/3#! 6! &$:&! /0$2&/+/$:! ()! -)$0/3&:! 6!

3./2/36.! 3(20/&/(2E! C&! /:! 0$+/2$0! /2! &$)A:! (+! 3./2/36.! :-$3/+/3/&JG! :$2:/&/K/&J! 620! -)$0/3&/K$!

K6.=$ENX!

General!research!results:!,DD)$D6&$0!)$:=.&:!3(23$)2/2D!6!D)(=-!()!3(#()&!(+!-$):(2:E!"#$!

$H-)$::/(2!gD$2$)6.!)$:=.&:g!'/..!?$!=:$0!#$)$/26+&$)E!

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NN!C2:-/)$0!?Je!Explanatory+ Report+ –+ Additional+Protocol+ to+ the+ Convention+ on+ Human+Rights+and+Biomedicine,+

concerning+Genetic+Testing+for+Health+PurposesG!NX!%(K$A?$)!N\\bG!MZ";!N\TG!6&!6)&!VG!:!UbE!

NT!B=?./3! B(-=.6&/(2! B)(I$3&! /2! 1$2(A/3:! 620! ;(3/$&J! 5BT18G! `$H/3(2G! (2./2$e! #&&-eSS-TDE()DS?/(?62*_

.$H/3(2h?E!

NU!M(=23/.!(+!Z=)(-$G!supra!2(&$!NN!6&!6)&!VG!:!VXE!

NV!IbidE!

NW!C2:-/)$0!?J!ibidE!

NX!C2:-/)$0!?J!supra!2(&$!NNE!

Human! biological! materials:! "/::=$:G! ()D62:G! ?.((0G! -.6:A6G! :*/2G! :$)=AG! [%,G! 7%,G!

-)(&$/2:G! 3$..:G! #6/)G! 26/.! 3./--/2D:G! =)/2$G! :6./K6G! 620! (&#$)! ?(0J! +.=/0:! 5'#$&#$)! ()! 2(&!

(?&6/2$0! -)$! ()! -(:&! A()&$A8E! "#$! &$)A! 6.:(! /23.=0$:! A6&$)/6.:! )$.6&$0! &(! #=A62!

)$-)(0=3&/(2G!/23.=0/2D!$A?)J(:G!+$&=:$:G!+$&6.!&/::=$:!620!#=A62!)$-)(0=3&/K$!A6&$)/6.:ENb!

Incidental!findings:! i262&/3/-6&$0! 0/:3(K$)/$:!&#6&! 6)$! (=&:/0$!(+!&#$! )$:$6)3#! (?I$3&/K$:!

?=&!&#6&!6)$!)$.$K62&!&(!&#$!/20/K/0=6.!-6)&/3/-62&ENa!!

Individual! research! results:!7$:=.&:!'#/3#!3(23$)2!62! /20/K/0=6.! -6)&/3/-62&! 0/:3(K$)$0!

0=)/2D!&#$!3(=):$!(+!)$:$6)3#E!"#$!$H-)$::/(2!g/20/K/0=6.!)$:=.&:g!'/..!?$!=:$0!#$)$/26+&$)E!

C2!&#$!3(2&$H&!(+!&#$!-)$:$2&!;&6&$A$2&G!@C20/K/0=6.!7$:=.&:F!0(!2(&!/23.=0$e!!

• ZH/:&/2D!-$):(26.!/2+()A6&/(2!=:$0!0=)/2D!)$:$6)3#!5$EDE!A$0/36.!)$3()0:8E!!

Secondary!use:!"#$!=:$!/2!)$:$6)3#!(+!/2+()A6&/(2!()!#=A62!?/(.(D/36.!A6&$)/6.:!()/D/26..J!

3(..$3&$0!+()!62(&#$)!-=)-(:$ET\!!!

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Nb!"MB;!NG!supra!2(&$!L!6&!D.(::6)JE!

Na!C2:-/)$0!?J!ibidE!!

T\!C2:-/)$0!?J!ibidE!!!

10"

SCOPE!OF!DUTIES!!

I. Expected!range!of!the!research!results!or!findings!!

C2!./D#&!(+!&#$!?((A!/2!D$2$&/3:!)$:$6)3#G!620!&#$!0$K$.(-A$2&!(+!&$3#2/O=$:!+()!:$O=$23/2D!

&#$! '#(.$! D$2(A$S$H(A$G! )$:$6)3#$):! :#(=.0! ?$! 6&&$2&/K$! &(! 2$'! $&#/36.! O=$:&/(2:GTL!

2(&6?.J!&#(:$!600)$::/2D!)$&=)2!(+!)$:$6)3#!)$:=.&:E!"#/:!;&6&$A$2&!(+!B)/23/-.$:!6--./$:!&(!

$H/:&/2D! '#(.$! D$2(A$S$H(A$! &$3#2(.(D/$:G! ?=&! )$:$6)3#$):! :#(=.0! 3(2:/0$)! &#$:$!

-)/23/-.$:! &(! 6--.J! &(! $A$)D/2D! A$&#(0(.(D/$:! :=3#! 6:! A$&#J.(A$G! &)62:3)/-&(A$! 620!

A/3)(7%,! /2&$))(D6&/(2! (+! $H-)$::/(2! (+! &#$! #=A62! D$2(A$E! ,..! (+! &#$:$! A$&#(0(.(D/$:!

A6J!=23(K$)!+/20/2D:!&#6&!6)$!3./2/36..J!-$)&/2$2&!620!K6./06&$0G!()!&#6&!#6K$!62!=23$)&6/2!()!

&(&6..J!=2*2('2!-)$0/3&/K$!K6.=$E!!

C2! &#$! )$:$6)3#! 3(2&$H&G! 2(&6?.J! :/23$! &#$! -=?./36&/(2! (+! &#$! "MB;! NG! &#/:! 2$'!)$6./&J! #6:!

/2&$2:/+/$0! 0$?6&$! (2! &#$! A626D$A$2&! (+! /23/0$2&6.! +/20/2D:! 620! &#$! )$&=)2! (+! /20/K/0=6.!

)$:=.&:G!6:! '$..! 6:!&#$!-)(3$0=)$:! 3(23$)2/2D! /2+()A$0!3(2:$2&! 620! &#$!)/D#&!&(! *2('! 5()!

2(&!&(! *2('8E! ,--.J/2D! &(! 6..! )$:$6)3#! 3(20=3&$0! /2! M62606G! &#$! "MB;! N! $:&6?./:#$0! &#$!

)$:$6)3#$)Q:!0=&J!&(!/2+()A!-6)&/3/-62&:!(+!6..!A6&$)/6.!/23/0$2&6.!+/20/2D:!0/:3(K$)$0!0=)/2D!

&#$!3(=):$!(+!&#$!)$:$6)3#GTN!6:!.(2D!6:!&#$!-6)&/3/-62&!3(2:$2&:!&(!?$!/2+()A$0E!!

"#$)$+()$G! ?$+()$! :&6)&/2D! 6! )$:$6)3#! -)(I$3&G! )$:$6)3#$):! :#(=.0! $K6.=6&$! &#$! -)(?6?/./&J!

&#6&! &#$/)! )$:$6)3#! '/..! D$2$)6&$! /20/K/0=6.! )$:=.&:!620!/23/0$2&6.! +/20/2D:TTE! C+! 2$3$::6)JG!

&#$J!:#(=.0! 0$&$)A/2$! &#$! &J-$:! (+! )$:=.&:! &#6&! '/..! ?$! (?&6/2$0G! &#$! ./*$.J! /A-./36&/(2!(+!

&#$:$!)$:=.&:G!+()!'#(AG!/2!()0$)!&(!0$K$.(-!6!:=/&6?.$!-.62!+()!A626D/2D!&#/:!/2+()A6&/(2E!!

II.!Developing!a!plan!for!managing!information!!

j$36=:$!(+!&#$!26&=)$!620!O=62&/&J!(+!&#$!/2+()A6&/(2!626.JR$0G!D$2$&/3!()!D$2(A/3!)$:$6)3#!

/:!$:-$3/6..J! ./*$.J! &(! D$2$)6&$! A6&$)/6.!/20/K/0=6.!)$:=.&:!620! A6&$)/6.! /23/0$2&6.! +/20/2D:!

3(A-6)$0! &(! (&#$)! )$:$6)3#! 0(A6/2:ETU!M(2:$O=$2&.JG! /2! 6.A(:&! 6..! 36:$:G! D$2$&/3:!

)$:$6)3#$):! :#(=.0! 0$K$.(-! 6! -.62! +()! A626D/2D! &#/:! &J-$! (+! /2+()A6&/(2E!"#$! +(..('/2D!

:$3&/(2! /:! 0$:/D2$0!&(! #$.-! &#$! )$:$6)3#$)!&(! 0$K$.(-! 62! 6--)(-)/6&$! -.62! +()! A626D/2D!

/2+()A6&/(2E!!!

,! -.62! +()! A626D/2D! /2+()A6&/(2! A6J! 2(&! ?$! I=:&/+/$0! /2! 6..! 3/)3=A:&623$:! 5$EDE!/+! 6..! &#$!

:6A-.$:!&(!?$! =:$0! 6)$! 62(2JA(=:! ()! 62(2JA/R$0! :6A-.$:8E!C+! &#$)$! /:! =23$)&6/2&J! 6:!&(!

'#$&#$)! 6! )$:$6)3#! -)(I$3&! '6))62&:! :=3#! 6! -.62G! &#$! 2$3$::/&J! (+! :=3#! 6!-.62! :#(=.0!?$!

0$&$)A/2$0!?J!&#$!)$:$6)3#$)G!/2!3(2:=.&6&/(2!'/&#!&#$/)!.(36.!/2:&/&=&/(26.!7ZjETV!!

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TL!Ibid!6&!LbLE!

32"Ibid!6&!6)&!TEUE"

TT!Ibid!6&!6)&:!LTENG!LTETE!

TU!Ibid!6&!6)&!TEUE!

TV!Ibid!6&!6)&!TEUE!!

11"

A)!Components!to!consider!before!the!development!of!a!plan!for!managing!

information!!

"(!)$:-$3&!&#$!6=&(2(AJ!(+!-6)&/3/-62&:!/2!&#$/)!3#(/3$!(+!'#$&#$)!()!2(&!&(!-6)&/3/-6&$!/2!

)$:$6)3#GTW!&#$!)$:$6)3#$)! :#(=.0! 0$K$.(-! 6!-.62!+()! A626D/2D! /2+()A6&/(2!$H-.6/2/2D!&#$!

26&=)$!(+! &#$!06&6! &#6&!A6J!$A$)D$! +)(A!&#$! )$:$6)3#ETX!"#$! )$:$6)3#$)!:#(=.0! 62&/3/-6&$!

&#$!K6)/(=:!36&$D()/$:!(+!)$:=.&:!./*$.J!&(!$A$)D$!+)(A!&#$!)$:$6)3#!620!-)(K/0$!6--)(-)/6&$!

-(./3J!+()!600)$::/2D!&#$AE!!

9()! $H6A-.$G! &#$! &J-$:! (+! )$:=.&:! &#6&! A6J! $A$)D$! +)(A! 6! )$:$6)3#! 3(=.0! ?$e! L8! D$2$)6.!

)$:=.&:P! N8! )$:=.&:! (+! &#$! /2/&/6.! $K6.=6&/(2! (+! -6)&/3/-62&:P! 620! T8! /20/K/0=6.! )$:=.&:! 620!

/23/0$2&6.! +/20/2D:E! C2! &#$! 36:$! (+! /20/K/0=6.! )$:=.&:! 620!/23/0$2&6.! +/20/2D:G! 6! 0/:&/23&/(2!

3(=.0!?$!A60$!6A(2De!!

68 7$:=.&!&#6&!#6:!:3/$2&/+/3!620!3./2/36.!K6./0/&J!6:!'$..!6:!3./2/36.!=&/./&Je!

_!+()!&#$!-6)&/3/-62&P!

_!+()!&#$!A$A?$):!(+!&#$!-6)&/3/-62&k:!?/(.(D/36.!+6A/.JP!

?8 7$:=.&:! '#(:$! 3(2:$O=$23$:! 6)$! K6./06&$0! 620! *2('2G! '/&#! 2(! &)$6&A$2&:! ()!

-)$K$2&/K$!A$6:=)$:G!?=&!'#/3#!A6J!6++$3&!:=?:&62&/K$!./+$:&J.$!3#(/3$:P!!

38 7$:=.&:! '#(:$! 3(2:$O=$23$:! 6)$! K6./06&$0! 620! *2('2G! '/&#!2(! &)$6&A$2&:! ()!

-)$K$2&/K$!A$6:=)$:G!?=&!'#/3#!A6J!6++$3&!)$-)(0=3&/K$!3#(/3$:P!!

08 7$:=.&!+()!'#/3#!&#$!3./2/36.!)$-$)3=::/(2:!6)$!=23$)&6/2!()!=2*2('2P!!

$8 7$:=.&!3(23$)2/2D!+6A/./6.!)$.6&/(2:#/-:!560(-&/(2G!2(2_-6&$)2/&J8E!!

1. Factors! to! consider! when! determining! the! policy! for! each! information!

category!

"#$!)$:$6)3#$)!:#(=.0!3(2:/0$)!&#$!+(..('/2D!+63&():!/2!0$&$)A/2/2D!&#$!6--)(-)/6&$!-(./3J!

+()!$63#!36&$D()J!(+!)$:=.&!&#6&!3(=.0!?$!)$K$6.$0!&#)(=D#!&#$/)!D$2$&/3!)$:$6)3#e!!!

• "#$!:3/$2&/+/3!620!3./2/36.!K6./0/&/$:!(+!&#$!/2+()A6&/(2!(?&6/2$0P!

• "#$! 3./2/36.! =&/./&JG! /E$E! &#$! -(&$2&/6.! ?$2$+/&:! 620! )/:*:! (+! 3(AA=2/36&/2D! &#/:!

/2+()A6&/(2!620!&#$!6K6/.6?/./&J!(+!&)$6&A$2&!()!-)$K$2&/K$!:&)6&$D/$:P!620!

• "#$!K6./06&/(2! (+! &#$! )$:$6)3#! )$:=.&!?$+()$!62J! -(&$2&/6.! 3(AA=2/36&/(2!&(! &#$!

-6)&/3/-62&E!

2. Modalities!of!communication!

7$:$6)3#$):! '#(! 62&/3/-6&$! )$&=)2/2D! )$:=.&:! &(! -6)&/3/-62&:! :#(=.0! 0$K$.(-! 6! -.62! +()!

A626D/2D!/2+()A6&/(2!'/&#!62!6--)(-)/6&$!-)(3$0=)$!&#6&!3.$6).J!-)$:$2&:!&#$!A(06./&/$:!(+!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

TW!,33()0/2D! &(! 6)&/3.$!LTEN! (+! &#$! "B;M! NG!@])^$:$6)3#$):! 3(20=3&/2D! D$2$&/3! )$:$6)3#! :#6..! ]EEE^! 38! 60K/:$!

-)(:-$3&/K$!-6)&/3/-62&:! (+! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! )$K$6.$0! &#)(=D#! &#$! )$:$6)3#F! ]$A-#6:/:!

600$0^E! Z.:$'#$)$G! 6)&/3.$! TEN! :&/-=.6&$:! &#6&! g])^$:$6)3#$):! :#6..! -)(K/0$! &(! -)(:-$3&/K$! -6)&/3/-62&:G! ()!

6=&#()/R$0! &#/)0! -6)&/$:G! +=..! 0/:3.(:=)$! (+! 6..! /2+()A6&/(2! 2$3$::6)J! +()! A6*/2D! 62! /2+()A$0! 0$3/:/(2! &(!

-6)&/3/-6&$!/2!6!)$:$6)3#!-)(I$3&Eg!,.&#(=D#!&#$!-.62!+()!A626D/2D!/2+()A6&/(2!)$K$6.$0!&#)(=D#!&#$!)$:$6)3#!

/:! 2(&! -6)&! (+! &#$! ./:&! (+! /2+()A6&/(2! D$2$)6..J! 3(2:/0$)$0! 2$3$::6)J! &(! $:&6?./:#/2D! /2+()A$0! 3(2:$2&!

56--./36&/(2! -6)6D)6-#! (+! 6)&/3.$!TEN8G! &#$! :6A$! 6)&/3.$! :&6&$:! &#6&! &#$! 7Zj! A=:&! K$)/+J! '#$&#$)! (&#$)!

:=--.$A$2&6)J!$.$A$2&:!6)$!2$3$::6)J!&(!&#$!3(2:$2&!-)(3$::E!l$&G!6)&/3.$!LTEN!:$$A:!&(!)$O=/)$!&#6&!&#$!-.62!

+()!A626D/2D!/2+()A6&/(2!?$!(2$!(+!&#$:$!:=--.$A$2&6.!$.$A$2&:!5ibid!6&!6)&:!TENG!LTEN8E!

TX!Ibid!6&!6)&!LTETE!

12"

3(AA=2/36&/(2! (+! )$:=.&:ETb!f#$2! )$O=/)$0G! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! 3(=.0G!

6A(2D! (&#$):G! :-$3/+J! '#(! '/..! )$&=)2! &#$! )$:=.&:G! &(! '#(AG! '#$2G! '/&#! '#/3#!)$:(=)3$:!

5$EDE!D$2$&/3!3(=2:$..():8G! $&3E!"#$! -.62!+()!A626D/2D!/2+()A6&/(2G!/23.=0/2D! &#$!A(06./&/$:!

(+! 3(AA=2/36&/(2G! :#(=.0! ?$! :=?A/&&$0! &(! &#$! 7Zj! +()! 6--)(K6.! 620! &#$2! -)$:$2&$0! &(!

-)(:-$3&/K$!-6)&/3/-62&:!0=)/2D!&#$!3(2:$2&!-)(3$::E!

3. Information!to!transmit!to!participants!!

!"#$ %&''()*+,-&.'+/0+.-+',&1,2+302.,&1,2+'0*3',!

7$:$6)3#$):!-.622/2D!&(!)$&=)2!)$:$6)3#!)$:=.&:!&(!-6)&/3/-62&:!:#(=.0!6..('!&#$A!&(!A6*$!

62!/2+()A$0!3#(/3$!(+!'#$&#$)! &(! )$3$/K$! &#$! )$:=.&:! ()! 2(&ETa!!"(! A6*$! &#/:! 3#(/3$!/2!62!

$2./D#&$2$0! A622$)G! -6)&/3/-62&:! :#(=.0! ?$! /2+()A$0! (+! -(::/?.$! 3(2:$O=$23$:! +()!

&#$A:$.K$:!6:!'$..!6:!&#$/)!+6A/./$:G!:#(=.0!&#$J!3#((:$!&(!*2('!()!2(&!*2('!6?(=&!3$)&6/2!

*/20:! (+! )$:=.&:EU\! 9()! $H6A-.$G! -6)&/3/-62&:! :#(=.0! ?$! 6'6)$! &#6&! *2('.$0D$! (+! :(A$!

)$:=.&:! A6J! #6K$! 6! -:J3#(.(D/36.! /A-63&! 5$EDE! 62H/$&J8G! #6K$! 62! /A-63&! (2! /2:=)6?/./&J! ()!

$A-.(JA$2&G!)$O=/)$!-)$K$2&/K$!A$6:=)$:G!)$O=/)$!&#$!3(A-.$&/(2!(+!(&#$)!&$:&:!/2!6!3./2/36.!

:$&&/2DG!()!A6J!3)$6&$!6!2$$0!&(!3(2:=.&!+()!6!D$2$&/3!3(=2:$../2DEUL!

!"4$ 56+,2+'+72-6+28',903:,3&,9(;0*<+,,

C2! ./D#&! (+! 3=))$2&! -)(+$::/(26.! 2()A:! 620! 3.6=:$:! 3(2&6/2$0! /2! /2+()A6&/(2! 620! 3(2:$2&!

+()A:G!)$:$6)3#$):!#6K$! 6! 0=&J! (+! 3(2+/0$2&/6./&J! '/&#! )$D6)0:! &(! /2+()A6&/(2! D6&#$)$0! /2!

&#$! 3(=):$! (+! )$:$6)3#E! Y('$K$)G! :(A$! :/&=6&/(2:! 3)$6&$! .$D6.! (?./D6&/(2:! &(! 0/K=.D$!

/2+()A6&/(2!&(!&#/)0!-6)&/$:!5$EDE!)$-()&6?.$! 0/:$6:$!&#6&!A=:&! ?$!0$3.6)$0!&(! -=?./3!#$6.&#!

6=&#()/&/$:!?J!6!-#J:/3/62!()!62J!3#/$+!$H$3=&/K$!(++/3$)!(+!6!.6?()6&()J!()!6!A$0/36.!?/(.(DJ!

0$-6)&A$2&!()G!/2!36:$:!'#$)$!&#$!:$3=)/&J!()!0$K$.(-A$2&!(+!6!A/2()!/:!3(A-)(A/:$0!620!

&#$!-6)$2&SD=6)0/62!/:!=26?.$!()!=2'/../2D!&(!63&!/2!&#$!3#/.0Q:!?$:&!/2&$)$:&G!2(&/+/36&/(2!(+!

&#$![/)$3&()!(+!l(=&#!B)(&$3&/(2!?J!6!-)(+$::/(26.8E!C&!/:!/A-()&62&!&(!2(&$!&#6&!-6)&/3/-62&:!

should+?$!/2+()A$0!(+!)$6:(26?.J!+()$:$$6?.$!:/&=6&/(2:!/2!'#/3#!&#$!)$:$6)3#$)!3(=.0!#6K$!

:=3#!0=&/$:!&(!0/K=.D$EUN!!

4. Participant!preferences!!

="#$ %723(-(>7.3,-6&(-+,7?&.<,+'37)*('6+9,>&*(-(+',!

"#$! -.62! +()! A626D/2D! /2+()A6&/(2! 362! -)$:$2&! 0/++$)$2&! (-&/(2:! &(! -6)&/3/-62&:E!

B6)&/3/-62&:Q!-)$+$)$23$:!:#(=.0!?$!)$3()0$0G!633()0/2D!&(!-)$_$:&6?./:#$0!-(./3/$:G!+()!$63#!

36&$D()J!(+!/2+()A6&/(2!./*$.J!&(!$A$)D$!+)(A!&#$!)$:$6)3#E!

B6)&/3/-62&!-)$+$)$23$:!:#(=.0!?$!)$:-$3&$0!'#$2!:=3#!6!3#(/3$!/:!D/K$2E!Y('$K$)G!?$J(20!

'#6&!/:!)$O=/)$0!?J!&#$!"MB;!N! 5/E$E!)$&=)2!(+!)$:=.&:!&#6&! #6K$!:/D2/+/362&! /A-./36&/(2:!+()!

&#$!-6)&/3/-62&8G!)$:$6)3#$):!6)$!2(&!)$O=/)$0!&(!-)(K/0$!6..!)$:=.&:!()!/23/0$2&6.!+/20/2D:!&(!

-6)&/3/-62&:! 5$K$2! /+! :(A$! -6)&/3/-62&:! '62&!&(! )$3$/K$! :=3#! )$:=.&:8E! 7$:$6)3#$):! :#(=.0!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

Tb!Ibid!6&!6)&!LTENG!LTETE!

Ta!Ibid!6&!6)&!LTET568E!

U\!Ibid!6&!6)&!LTENE!

UL!Ibid!6&!6)&!LTENG!LTEUE!

UN!Ibid!6&!6)&!VENE!

13"

3#((:$!&(!$:&6?./:#!6!-(./3J!(+!2(2_)$&=)2!'#$2!&#$!)/:*:!(=&'$/D#!&#$!-(&$2&/6.!?$2$+/&:!(+!

3(AA=2/36&/(2E!ZH6A-.$:!(+!+/20/2D:!&#6&!362!?$!'/&##$.0!6)$!)6'!D$2(A/3!()!(&#$)!:/A/.6)!

06&6G! +/20/2D:! (+! =23$)&6/2! :/D2/+/3623$!()! :3/$2&/+/36..J! K6./0! /2+()A6&/(2! '/&#!2(!3./2/36.!

=&/./&JE!!!

="4$ %723(-(>7.3,>2+1+2+.-+',-&.-+2.(.<,36+,2+302.,&1,2+'+72-6,2+'0*3',

f#$)$! /20/K/0=6.! )$:=.&:! ()! +/20/2D:! '/..! ?$! (++$)$0!&(! -6)&/3/-62&:G! )$:$6)3#$):!:#(=.0!

0$K$.(-! 6--)(-)/6&$! -)(3$0=)$:! +()! 3(AA=2/36&/2D! &#$:$! )$:=.&:G! &6*/2D! /2&(! 633(=2&!&#$!

-6)&/3/-62&Q:! -)$+$)$23$:! ()! /2:&)=3&/(2:E! "#$)$+()$G! &#$!-.62! +()! A626D/2D! /2+()A6&/(2!

:#(=.0! (=&./2$!&#$! 3#(/3$:!6K6/.6?.$! &(! &#$! -6)&/3/-62&G! $EDE! 0/)$3&! 3(AA=2/36&/(2! (+! &#$!

)$:=.&!&(! &#$! -#J:/3/62! ()! -6)&/3/-62&!()!&(! 6!&#/)0! -6)&/$:!6=&#()/R$0! &(!)$3$/K$! &#$!

/2+()A6&/(2EUT++

Y('$K$)G!/2!$H3$-&/(26.!3/)3=A:&623$:G!&#$! -)$+$)$23$:!$H-)$::$0!?J!6!-6)&/3/-62&!A6J!?$!

(K$))/00$2G!'/&#! &#$! 7Zj! 6--)(K6.G! /+!&#$)$!6)$! 3(A-$../2D! )$6:(2:! &(! 0(E!"#$!)$6:(26?.J!

+()$:$$6?.$!0/:3.(:=)$!)$O=/)$A$2&:!:#(=.0!?$!$H-.6/2$0!&(!-)(:-$3&/K$!-6)&/3/-62&:!0=)/2D!

&#$! 3(2:$2&! -)(3$::E! "#$J":#(=.0! ?$! -6)&! (+! &#$! /2+()A6&/(2! $H-.6/2$0! /2!&#$!-.62! +()!

A626D/2D!/2+()A6&/(2EUU+

="!$ 527.'?(33(.<,(.1&2?73(&.,3&,36(29,>723(+',,

,A(2D! &#$! &#/)0! -6)&/$:! 6=&#()/R$0! &(! )$3$/K$!)$:$6)3#! )$:=.&:G! &#$! -.62! +()! A626D/2D!

/2+()A6&/(2!3(=.0!/23.=0$! &)62:A/&&/2D!/2+()A6&/(2!&(!6! #$6.&#!-)(+$::/(26.UV!/0$2&/+/$0! ?J!

&#$!-6)&/3/-62&E!4()$(K$)G!)$:$6)3#$):!:#(=.0!D/K$!-6)&/3/-62&:! &#$!(--()&=2/&J!&(! $H-)$::!

-)$+$)$23$:!()! /2:&)=3&/(2! '/&#! )$D6)0:! &(!&#$!)$&=)2!(+!3$)&6/2! /20/K/0=6.! )$:=.&:! ()!

/23/0$2&6.! +/20/2D:! &(! ?/(.(D/36.!)$.6&/K$:G! ()! (&#$):! -$):(2:! '/&#! '#(A! &#$! -6)&/3/-62&:!

#6K$! -$):(26.! &/$:!52(2! ?/(.(D/36.! +6A/.J! m! $EDE! '/+$S#=:?620G! 3(AA=2/&J! ()! :-$3/+/3!

D)(=-8EUW!!

B)!The!process!of!planning!and!approving!a!plan!for!managing!information!!

f#$2! 6! -.62! +()! A626D/2D! /2+()A6&/(2! /:! )$O=/)$0G! &#$! )$:$6)3#$)! :#(=.0! 62&/3/-6&$!

0/++$)$2&!-(::/?.$!:/&=6&/(2:!5/E$E!&#$!0/K$):$!36&$D()/$:!(+!)$:=.&:!./*$.J!&(!$A$)D$!+)(A!&#$!

)$:$6)3#8!620!62&/3/-6&$!6--)(-)/6&$!-(./3/$:! 620! /2&$)K$2&/(2:! :&)6&$D/$:E! ,:! 2$$0$0G! &#$!

)$:$6)3#$)! :#(=.0! 2(&! #$:/&6&$! &(!3(2:=.&! (&#$)! )$:(=)3$:G! :=3#! 6:! &#$! )$:$6)3#! $&#/3:!

3(AA/&&$$!5#$)$/26+&$)G!7Zj8!(+!#$)!()D62/R6&/(2G!()!#/:!3(..$6D=$:EUX!!

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UT!Ibid!6&!6)&!LTET!

UU!Ibid!6&!6)&!VEN!5?8!

UV!Ibid!6&!6)&:!LTENG!LTETE!

UW!Ibid!6&!6)&!LTETE!

UX!>=<?$3G!4/2/:&n)$!0$!.6!:62&<!$&!0$:!:$)K/3$:!:(3/6=HG!=2/&<! 0$! .Q<&#/O=$G!Actes+de+la+5e+édition+ des+ Journées+

d’études+ des+ comités+ d’éthique+ de+ la+ recherche+et+ de+ leurs+ partenaires+ –+ Peut$on+ se+ faire+ confiance?!5>=<?$3!e!

B=?./36&/(2:!0$!>=<?$3G!N\L\8!6&!NG!L\LG!(2./2$e!#&&-eSS$&#/O=$EA:::ED(=KEO3E36S:/&$SLT\E\E\ELE\E\E-#&A.P!"MB;!

N!supra!2(&$!L!6&!6)&!TEUE!

14"

"#$! -.62! +()! A626D/2D! /2+()A6&/(2! :#(=.0! ?$! :=?A/&&$0! &(! &#$! 7Zj! +()! 6--)(K6.! 620!

:=?:$O=$2&.JG! &#$! +=206A$2&6.! 6:-$3&:! (+! /&!&#6&!3(=.0! /2+.=$23$! &#$!0$3/:/(2!(+! -(&$2&/6.!

-6)&/3/-62&:!&(!&6*$!-6)&!:#(=.0!?$!-)$:$2&$0!0=)/2D!&#$!3(2:$2&!-)(3$::EUb!!

C)!Contents!of!the!plan!for!managing!information!! !

"#$!)$:$6)3#$)!:#(=.0!0$K$.(-!6!-.62!+()!A626D/2D!/2+()A6&/(2!$H-.6/2/2D!&#$!26&=)$!(+!&#$!

(?:$)K6&/(2:! ./*$.J! &(! $A$)D$! +)(A! &#$! )$:$6)3#EUa!;-$3/+/36..JG! &#$! )$:$6)3#$)! :#(=.0!

$H-.6/2!+()!$63#!(+!&#$!/2+()A6&/(26.!36&$D()/$:!./*$.J!&(!$A$)D$e!

• "#$!-(./3J!62&/3/-6&$0!/2!&#$!3/)3=A:&623$:!5/E$E!'#$&#$)!)$&=)2!(+!)$:=.&:!/:!-(::/?.$!

/2!&#/:!36&$D()J!()!2(&8P!

• C+!6--./36?.$G!&#$!-6)&/3/-62&:!3#(/3$:P!620!

• "#$!A(06./&/$:!(+!3(AA=2/36&/(2E!!

M(2:$O=$2&.JG!&#$! -.62! +()!A626D/2D!/2+()A6&/(2! :#(=.0!2(&!(2.J! 600)$::! )$:=.&:!&#6&!6)$!

./*$.J!&(!?$!)$&=)2$0G!?=&!6.:(!/0$2&/+J!)$:=.&:!./*$.J!&(!?$!(?&6/2$0!&#6&!'/..!2(&!?$!)$&=)2$0!

5$EDE!)$:=.&:!'#(:$!:/D2/+/3623$!/:!=23$)&6/2G!)$:=.&:!&#6&!6)$!2(&!3./2/36..J!K6./06&$0G!$&3E8E!!

"#$!-.62!+()!A626D/2D!/2+()A6&/(2!3(=.0!0/:&/2D=/:#!?$&'$$2!L8!D$2$)6.!)$:=.&:P!N8!)$:=.&:!

(+!&#$!/2/&/6.! $K6.=6&/(2!(+!-6)&/3/-62&:P! 620!T8!&#$! 0/++$)$2&!&J-$:!(+! /20/K/0=6.!)$:=.&:!620!

/23/0$2&6.!+/20/2D:!&#6&!6)$!./*$.J!&(!$A$)D$e!!

1. General!results!

7$:$6)3#$):!:#(=.0!-)$:$2&!&(!-6)&/3/-62&:!&#$!A$&#(0:!&#6&!'/..!?$!$A-.(J$0!&(!:#6)$!&#$!

-)(I$3&Q:! D$2$)6.! )$:=.&:!'/&#! -6)&/3/-62&:! 5$EDE! /2+()A6&/(2! ?=..$&/2:G! '$?! :/&$:G! ()! (&#$)!

A$&#(0:8EV\!"#$!62&/3/-6&$0!&/A/2D!620!26&=)$!(+!&#/:!:#6)/2D!:#(=.0!?$!0$:3)/?$0E!!

2. Results!of!participants’!initial!evaluations!

7$:$6)3#$):!A6J!'/:#!&(!)$&=)2!-6)&/3/-62&!/2+()A6&/(2!(?&6/2$0!/2!&#$!3(2&$H&!(+!62!/2/&/6.!

$K6.=6&/(2E!

f#$2! &#$! /2/&/6.! $K6.=6&/(2! (+! 6! -6)&/3/-62&! )$K$6.:! 6! ./+$_&#)$6&$2/2D!3(20/&/(2G! &#$!

)$:$6)3#$)!:#(=.0! 63&E! 9()! $H6A-.$G! 6! 3./2/3/62_)$:$6)3#$)!:#(=.0!60A/2/:&$)! &#$! )$O=/)$0!

&)$6&A$2&E!C2!&#$!36:$!(+!6!2(2_3./2/3/62!)$:$6)3#$)!()!/+!&#$!:/&=6&/(2!$H3$$0:!&#$!36-63/&J!(+!

&#$! )$:$6)3#$)_3./2/3/62G! &#$! -6)&/3/-62&! :#(=.0! ?$! )$+$))$0! &(! 6! -)(+$::/(26.! 6?.$! &(!

/2&$)K$2$!/2!3/)3=A:&623$:E!

f#$2! &#$!)$:$6)3#! -)(&(3(.! -)(K/0$:!/2/&/6.! $K6.=6&/(2! (+! -6)&/3/-62&:G! &#$! -.62! +()!

A626D/2D!/2+()A6&/(2!:#(=.0! 600)$::!&#/:! /::=$!620!/2+()A!&#$!-6)&/3/-62&:! (+!&#$! -.62!/2!

&#$!$K$2&!6!./+$_&#)$6&$2/2D!3(20/&/(2!/:!+(=20!5$EDE!2$3$::6)J!36)$!'/..!?$!60A/2/:&$)$0!?J!6!

A$A?$)! (+! &#$! )$:$6)3#! &$6A! /+! &#$! -$):(2! /:! 6?.$! &(! 0(! :(! /2! &#$! 3/)3=A:&623$:! ()! &#$!

-6)&/3/-62&!'/..!?$!&)62:+$))$0!()!)$+$))$0!&(!6!-)(+$::/(26.!6?.$!&(!63&!/2!&#$!3/)3=A:&623$:8E!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

Ub!C2!$++$3&G!6)&/3.$!LTEN!538!(+!&#$!"MB;!N!:&/-=.6&$0!&#6&!&#$!-)(:-$3&/K$!-6)&/3/-62&!:#(=.0!?$!/2+()A$0!(+!&#$!

-.62! +()! A626D/2D! /2+()A6&/(2G! '#/3#! .$60:! =:! &(!?$./$K$! &#6&! &#$! -.62! :#(=.0! ?$! -)$:$2&$0!&(! -6)&/3/-62&:!

?$+()$!&#$J!0$3/0$!'#$&#$)!&(!-6)&/3/-6&$!5"MB;!NG!supra!2(&$!L!6&!6)&!LTEN!5388E!

Ua!Ibid!6&!6)&!LTENE!

V\!IbidE!

15"

c&#$):! )$:=.&:! (?&6/2$0! 0=)/2D! &#$! /2/&/6.! $K6.=6&/(2! 5/E$E! &#(:$! &#6&! 0(! 2(&! /AA$0/6&$.J!

&#)$6&$2!&#$!-6)&/3/-62&8!3(=.0!?$!3(AA=2/36&$0!&(!&#$!-6)&/3/-62&:!6&!&#$!0/:3)$&/(2!(+!&#$!

)$:$6)3#$)! (2!&#$! 3(20/&/(2! &#6&! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! 600)$::$:! &#/:!

-(::/?/./&J!620!&#$!-6)&/3/-62&!3(2:$2&:!&(!)$3$/K$!&#$:$!)$:=.&:E!C+!&#/:!/:!&#$!36:$G!)$&=)2/2D!

&#/:! */20! (+! )$:=.&! :#(=.0! ?$! 0(2$! 6:! :((2! 6:!-(::/?.$! 6+&$)! &#$! /2/&/6.! $K6.=6&/(2E! "#$!

)$:$6)3#$)!:#(=.0!2(2$&#$.$::! $H$)3/:$! 36=&/(2! /2! &#/:! )$D6)0e! #$! :#(=.0! 2(&! -)(K(*$! &#$!

&#$)6-$=&/3! A/:3(23$-&/(2G! '#/3#! /:! ./*$.J! &(! .$60! -6)&/3/-62&:! &(! ?$./$K$! &#$J! 6)$!

-6)&/3/-6&/2D!/2!6!A$0/36.!$K6.=6&/(2!)6&#$)!&#62!6!)$:$6)3#!-)(I$3&E!

f#$)$!6--./36?.$G!&#$! +$$0?63*!)$D6)0/2D!&#$!/2/&/6.!$K6.=6&/(2!+()!&#$!)$3)=/&A$2&!:#(=.0!

?$!3(AA=2/36&$0!6:!:((2!6:!-(::/?.$. C+!&#$!/2/&/6.!$K6.=6&/(2!)$K$6.:!6?2()A6.!)$:=.&:G!&#$!

)$:$6)3#!&$6A!:#(=.0!$23(=)6D$!&#$!-6)&/3/-62&!&(!3(2:=.&!6!-#J:/3/62E!!

3. Individual!results!and!incidental!findings!!

!"#$ %&''()*+,@73+<&2(+',,,

,:!-)$:$2&$0!-)$K/(=:.J!5-6)&!CCE!,8G!/2!&#$!36:$!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:G!

&#$!-.62!+()!A626D/2D!/2+()A6&/(2!could+0/:&/2D=/:#!6A(2De!!

68 7$:=.&:!&#6&!#6:!:3/$2&/+/3!620!3./2/36.!K6./0/&J!6:!'$..!6:!3./2/36.!=&/./&Je!

_!+()!&#$!-6)&/3/-62&P!

_!+()!&#$!A$A?$):!(+!&#$!-6)&/3/-62&k:!?/(.(D/36.!+6A/.JP!

?8 7$:=.&:! '#(:$! 3(2:$O=$23$:! 6)$! K6./06&$0! 620! *2('2G! '/&#! 2(! &)$6&A$2&:! ()!

-)$K$2&/K$!A$6:=)$:G!?=&!'#/3#!A6J!6++$3&!:=?:&62&/K$!./+$:&J.$!3#(/3$:P!!

38 7$:=.&:! '#(:$! 3(2:$O=$23$:! 6)$! K6./06&$0! 620! *2('2G! '/&#! 2(! &)$6&A$2&:! ()!

-)$K$2&/K$!A$6:=)$:G!?=&!'#/3#!A6J!6++$3&!)$-)(0=3&/K$!3#(/3$:P!!

08 7$:=.&!+()!'#/3#!&#$!3./2/36.!)$-$)3=::/(2:!6)$!=23$)&6/2!()!=2*2('2P!!

$8 7$:=.&!3(23$)2/2D!+6A/./6.!)$.6&/(2:#/-:!5$EDE!60(-&/(2G!2(2_-6&$)2/&J8E!!

%(&$!&#6&!:(A$!(+!&#$!36&$D()/$:!A6J!$H/:&!:/A=.&62$(=:.J!5+()!$EDE!36&$D()J!?!620!38E!

!"4$ A.,36+,-7'+,&1,B6&*+,<+.&?+,&2,+C&?+,'+/0+.-(.<,3&&*',

,.&#(=D#!D$2$&/3!620!D$2(A/3!)$:$6)3#!36..:!+()!6!-.62!+()!A626D/2D!/2+()A6&/(2!&#6&!/:!6:!

3(A-.$&$!6:!-(::/?.$G!:(A$!)$:$6)3#!3(2&$H&:!)$O=/)$!6!-6)&/3=.6).J!$H#6=:&/K$!-.62E!"#/:!/:!

2(&6?.J! &#$! 36:$! '#$2! )$:$6)3#! =:$:! '#(.$! D$2(A$! ()! $H(A$! :$O=$23/2DE! C2! &#$:$!

3/)3=A:&623$:G! )$:$6)3#$):! :#(=.0! -)$0/3&! &#$! 36&$D()/$:! (+! /2+()A6&/(2! A(:&! ./*$.J! &(!

$A$)D$!+)(A! &#$! )$:$6)3#!620!:-$3/+J!&#$! -(./3J! 60(-&$0!+()!$63#!(+! &#$A!/2! &#$!-.62!+()!

A626D/2D! /2+()A6&/(2E! "#$! :6A$! #(.0:! +()! ?62*$0! &/::=$:! 620! &#$! +63&! &#6&! /2! &#$! +=&=)$!

:=3#!&/::=$:!A6J!)$K$6.!)$:=.&:E,

16"

GENERAL!PRINCIPLES:!principles!1!to!4!

DECIDING!WHICH!RESULTS!TO!RETURN!!

I. GENERAL!RESULTS!!

%DAE@A%FG,#,,

1$2$)6.!)$:=.&:!'6&0*9, )+!A60$!$6:/.J!633$::/?.$!&(!&#$!:3/$2&/+/3!3(AA=2/&JG!&(!)$:$6)3#!

-6)&/3/-62&:G!620!&(!&#$!D$2$)6.!-(-=.6&/(2E!!

%DH@GIJDGK,

A) Accessibility!of!results!!

1$2$)6.! )$:=.&:! :#(=.0! ?$! A60$! 6K6/.6?.$! 620! :#(=.0! ?$! 6:! 3(A-.$&$! 620! 633$::/?.$! 6:!

-(::/?.$E!!

"#$!:3/$2&/+/3! 3(AA=2/&J!:#(=.0!?$! 6?.$!&(!633$::! &#$!D$2$)6.! )$:=.&:! '/&#/2!6! )$6:(26?.$!

'6/&/2D!-$)/(0!620G!/+!-(::/?.$G!/2!6!+()A6&!&#6&!/:!$6:/.J!633$::/?.$!620!+)$$E!!

1$2$)6.! )$:=.&:! :#(=.0! ?$! (++$)$0! &(! 6..! -6)&/3/-62&:! '#(! '62&! &#$AG! '/&#! &#$! A(0$! (+!

&)62:A/::/(2! 620! .$K$.! (+! .62D=6D$! 606-&$0! &(! &#$! -6)&/3=.6)! D)(=-:! (+! -6)&/3/-62&:E!

4()$(K$)G! &#$:$! )$:=.&:! :#(=.0! ?$! (++$)$0! /2! 6! &/A$.J! '6JE! "(! &#$! $H&$2&! -(::/?.$G! &#$:$!

)$:=.&:!:#(=.0!?$!/2!&#$!+()A!(+!6!:/A-.$!:=AA6)J!+()!&#$!-=?./3E!

B) Modes!of!communication!

"#$!A$&#(0:!3#(:$2!+()!)$&=)2! (+!D$2$)6.! )$:=.&:!&(! -6)&/3/-62&:!:#(=.0! ?$!6--)(-)/6&$!&(!

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C) Notification!of!participants!

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17"

D)!Protection!of!privacy!and!confidentiality+

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II. INDIVIDUAL!RESULTS!AND!INCIDENTAL!FINDINGS!!

A) THAT!SHOULD!BE!OFFERED!TO!PARTICIPANTS!

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'#$&#$)! &(! )$&=)2! )$:=.&:! '/&#! @-$):(26.G! +6A/./6.! ()! :(3/6.F! =&/./&J! +()! &#$! '$.+6)$! (+! &#$!

-6)&/3/-62&!:#(=.0!?$!$K6.=6&$0!(2!6!36:$!?J!36:$! ?6:/:! 633()0/2D! &(! &#$! A(:&! +6K(=)6?.$!

-(::/?.$!?6.623$!?$&'$$2!?$2$+/&:!620!-(&$2&/6.!)/:*:G!620!:#(=.0!?$!6--)(K$0!?J!&#$!7ZjE!

"#$!-(&$2&/6.!:J:&$A/3!/A-63&!(+!:=3#!62!$H&$20$0!(?./D6&/(2!/:!62!/A-()&62&!3(2:/0$)6&/(2E!

2. Have! exceptions! and! additional! considerations! related! to! the! research!

context!been!weighed?!!

C&! /:! /A-(::/?.$! &(! =:$! 6! :/2D.$! 6--)(63#! +()! 6..! )$:$6)3#! 3(2&$H&:E! M(2:/0$)6&/(2! (+! &#$!

)$:$6)3#! 3(2&$H&! '/..! #$.-! 0$&$)A/2$! '#$&#$)! 62! /20/K/0=6.! )$:=.&! ()! /23/0$2&6.! +/20/2D:!

:#(=.0!?$!)$&=)2$0!&(!&#$!-6)&/3/-62&E!!

4"#$ GC-+>3(&.',

7$:$6)3#!-6)&/3/-62&:Q!K=.2$)6?/./&J! 362! A(0/+J! &#$! D$2$)6.! -)/23/-.$:! (+! )$&=)2! (+! )$:=.&:!

5:$$! supra! B)/23/-.$:! V! 620! W8E! 4()$! -)$3/:$.JG! '#$2! -6)&/3/-62&:! 6)$! .$D6..J! /236-6?.$! (+!

3(2:$2&!5/E$E!/2!&#$!36:$!(+!A/2():!()!/236-63/&6&$0!60=.&:8G!&#$!D$2$)6.!-)/23/-.$:!(+!)$&=)2!(+!

/20/K/0=6.! )$:=.&:!620! /23/0$2&6.! +/20/2D:!6)$! 0/++$)$2&G! 6:! &#$! ?$:&! /2&$)$:&:! (+! &#$!

K=.2$)6?.$!/20/K/0=6.!A=:&!-)$K6/.E!!

4"4$ Q99(3(&.7*,-&.'(9+273(&.',2+*73+9,3&,2+'+72-6,-&.3+C3,,

C2!3$)&6/2!)$:$6)3#!3(2&$H&:G!+()!$H6A-.$!'#$2!&#$!)$:$6)3#!/:!3(20=3&$0!=:/2D!62(2JA/R$0!

?/(.(D/36.!:6A-.$:! ()!62(2JA/R$0! D$2$&/3!()! A$0/36.!06&6G!&#$! )$&=)2!(+! /20/K/0=6.!)$:=.&:!

620!/23/0$2&6.!+/20/2D:G!$K$2!A6&$)/6.!(2$:G!/:!/A-(::/?.$E!!

! !

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6A(2D!(&#$)!6:-$3&:!(+!./+$E!]EEE^!,!-$):(2Q:!()!D)(=-Q:!'$.+6)$!/:!6.:(!6++$3&$0!?J!&#$!'$.+6)$!(+!&#(:$!'#(!6)$!

/A-()&62&!&(!&#$Ag5ibid!6&!L\8E!

WX!Supra!2(&$!L!6&!6)&!TEUE!

21"

C2!(&#$)!3/)3=A:&623$:G!&#$!0=)6&/(2!620!26&=)$!(+!&#$!)$.6&/(2:#/-!?$&'$$2!)$:$6)3#$)!620!

-6)&/3/-62&!3(=.0! /2+.=$23$!$H-$3&6&/(2:E! "#$!3.(:$)!)$:$6)3#! /:! &(!&#$!3./2/36.!3(2&$H&G! &#$!

#/D#$)!&#$!$H-$3&6&/(2:!A6J!?$!&#6&!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!?$!)$&=)2$0E!!

C2!&#$!:6A$!K$/2G!/+!6!)$:$6)3#$)!3(20=3&:!6!.(2D/&=0/26.!:&=0J!(K$)!&'$2&J!J$6):!'/&#!6!K$)J!

./A/&$0!2=A?$)!(+!-6)&/3/-62&:!5$EDE!)$:$6)3#!(2!6!)6)$!0/:$6:$8!620!#6:!)$D=.6)!3(2&63&!'/&#!

&#$! -6)&/3/-62&:! /2! O=$:&/(2G! &#/:!3(=.0!6.:(!/2&$2:/+J! &#$! $H-$3&6&/(2:! (+!&#$! )$&=)2! (+!

/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!&(!&#$!-6)&/3/-62&:E!

3.!Has!REB!approval!been!obtained?!

"#$!)$:$6)3#$)!:#(=.0!#6K$!6!-.62!+()!A626D/2D!/2+()A6&/(2!&#6&!A6J!?$!)$K$6.$0!&#)(=D#!

D$2$&/3!)$:$6)3#!6--)(K$0!?J!&#$!7ZjG!620!:#(=.0!-)(K/0$!6!-(./3J!+()!&#$!)$&=)2!(+!A6&$)/6.!

/20/K/0=6.!)$:=.&:!620! A6&$)/6.! /23/0$2&6.! +/20/2D:E! "#$! )$&=)2! (+! &#$! A6&$)/6.! /20/K/0=6.!

)$:=.&!()! A6&$)/6.! /23/0$2&6.! +/20/2D! :#(=.0! ?$! 0(2$! /2! 3(2+()A/&J! '/&#! &#$! -.62! +()!

A626D/2D! /2+()A6&/(2! 6--)(K$0! ?J! &#$! 7ZjE! ,.:(G! 62J! 0$K/6&/(2! +)(A! &#$! -.62! ()! 62J!

0/++/3=.&J! /2! /A-.$A$2&/2D! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! :#(=.0! ?$! $K6.=6&$0! ?J!&#$!

7ZjE!C2! -6)&/3=.6)G!)$:$6)3#$):!=2:=)$! (+!'#$&#$)!&(!3(AA=2/36&$!6! )$:=.&!:#(=.0!3(2:=.&!

&#$/)!7ZjE!

C2!&#$! 6?:$23$! (+!:=3#!-.62! +()! A626D/2D! /2+()A6&/(2!5+()!$H6A-.$G! '#$2! &#$!)$:$6)3#!/2!

O=$:&/(2! '6:! 6--)(K$0! ?J! &#$! 7Zj! ?$+()$! &#$! -=?./36&/(2! (+! &#$! "MB;! N8G! &#$! )$:$6)3#$)!

'#(!/0$2&/+/$:!6!A6&$)/6.!/20/K/0=6.!)$:=.&!()!6!A6&$)/6.!/23/0$2&6.!+/20/2D!:#(=.0!:=?A/&!&#$!

36:$!&(! &#$!7Zj! &(! 0$&$)A/2$!'#$&#$)! ()!2(&G!/2! &#$!3/)3=A:&623$:G! &#$!)$:$6)3#$)!:#(=.0!

3(2&63&! &#$! -6)&/3/-62&!62$'E! C+! &#/:! /:! &#$! 36:$G!&#$! )$&=)2! :#(=.0! ?$! 3(20=3&$0! /2!

3(2+()A/&J!'/&#!&#$!7ZjQ:!6--)(K$0!-)(3$0=)$E!!

4.!Has!the!participant!consented!to!be!informed!of!the!result?!!

p(.=2&6)J!620! /2+()A$0! 3(2:$2&!3(2:&/&=&$:! &#$! $H-)$::/(2!(+!&#$! -6)&/3/-62&Q:! 6=&(2(AJE!

"#/:!3(2:$2&! /:!(2.J!K6./0! /+!&#$! -6)&/3/-62&! /:!/2+()A$0! (+! &#$!)$:$6)3#Q:! :3(-$!620!./A/&:G!

2(&6?.J!3(23$)2/2D!&#$!)$&=)2!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:E!!

="#$ %723(-(>7.3,-6&(-+,7.9,36+,2(<63,.&3,3&,N.&B,,

f#$2!)$:$6)3#$):!62&/3/-6&$!&#$!)$&=)2!(+!)$:=.&:!()!/23/0$2&6.!+/20/2D:G!-6)&/3/-62&:!:#(=.0!

?$!6..('$0!&(! A6*$!62! /2+()A$0!3#(/3$! 6?(=&!'#$&#$)!()!2(&!&(!)$3$/K$!)$:=.&:WbE!7$:-$3&!

+()! /20/K/0=6.! 6=&(2(AJ! )$O=/)$:! &#6&!&#$! -6)&/3/-62&Q:! (-/2/(2! ?$! :(=D#&! 0=)/2D! &#$!

3(2:$2&!-)(3$::E!!

4()$(K$)G! 6:! consent! is! an! ongoing! processWaG! )$:$6)3#! -6)&/3/-62&:! :#(=.0! #6K$! &#$!

(-&/(2!(+!)$+=:/2D!&#$!)$&=)2!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!&#6&!3(23$)2!&#$A!

6&! 6..! &/A$:EX\!9(..('/2D! &#/:! -)/23/-.$G! /+! 6! -6)&/3/-62&! #6:! /20/36&$0! 6! '/:#!&(! )$3$/K$!

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Wb!Ibid!6&!6)&!LTET568E!

Wa!Ibid!6&!6)&!TETE!

X\!Supra!2(&$!LNE!

22"

/20/K/0=6.! )$:=.&:!620! /23/0$2&6.! +/20/2D:G! &#$! )$:$6)3#$)! :#(=.0! 2$K$)&#$.$::! 3(2+/)A! &#$!

0$:/)$!&(!)$3$/K$!)$:=.&:!?$+()$!)$&=)2/2D!&#$AE!!

C2!&#$!36:$!(+!)$+=:6.G!the!right!not!to!know!:#(=.0!?$!)$:-$3&$0E!B6)&/3/-62&:!'#(!/2/&/6..J!

)$+=:$0!&(!?$!/2+()A$0!(+! &#$!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!A/D#&!3#62D$!&#$/)!

A/20:!0=)/2D!&#$!)$:$6)3#!620!2(&/+J!&#$! )$:$6)3#!&$6AE! Y('$K$)G!)$:$6)3#$):!:#(=.0!2(&!

?$!2()A6..J!(?./D$0!&(!633$-&!3#62D$:!(+!A/20!?$J(20!&#$!+=20/2D!-$)/(0!(+!&#$!)$:$6)3#E!!

="4$ !M673,3&,9&,B6+.,36+,(.(3(7*,-&.'+.3,9&+',.&3,7992+'',36+,(''0+,&1,2+302.,

2+'+72-6,2+'0*3'L,

f#$2! &#$! /2/&/6.! 3(2:$2&!0($:! 2(&! 600)$::!&#$! /::=$! (+! )$&=)2! (+! /20/K/0=6.! )$:=.&:!()!

/23/0$2&6.! +/20/2D:!&(! -6)&/3/-62&:!5$EDE! '#$2! &#$!3(2:$2&! '6:! (?&6/2$0! ?$+()$!&#$!

-=?./36&/(2!(+!&#$!"MB;!NXL8!620!&#$!)$:$6)3#$)!/0$2&/+/$:!6!material!/20/K/0=6.!)$:=.&!()!6!

material!/23/0$2&6.!+/20/2D!5)$+$)!&(!&#$! 3)/&$)/6!6?(K$! =20$)!B)/23/-.$! N8G! &#$! )$:$6)3#$)!

:#(=.0!:=?A/&! &#$!36:$! &(!&#$! 7Zj!&(! 0$&$)A/2$!'#$&#$)!()!2(&G!/2!&#$! 3/)3=A:&623$:G!&#$!

)$:$6)3#$)!:#(=.0!3(2&63&!&#$!-6)&/3/-62&!62$'!/2!()0$)!&(!)$&=)2!&#$!A6&$)/6.!)$:=.&:E!

!5.!Has!the!result!been!confirmed?!

j$36=:$!$))():!/2! &#$!)$:=.&:! (+!D$2$&/3!&$:&:!362!#6K$! :$)/(=:!620! :(A$&/A$:!/))$K$):/?.$!

3(2:$O=$23$:G! &#$! )$:$6)3#$)! :#(=.0! 0$K$.(-! A$3#62/:A:! &(! )$0=3$! ()! A626D$! &#$! )/:*:!

/2K(.K$0! ?J! /2$H63&! &$:&/2D!620!&(! $2:=)$!:3/$2&/+/3!K6./0/&J!(+! &#$! )$:=.&E! ,.&#(=D#!&#$!

K6./0/&J!(+!6!&$:&!/:!I=0D$0!(2!&#$!$K/0$23$!620!2(&!(2!&#$!&J-$!(+!.6?()6&()J!&#6&!-$)+()A$0!

&#$!&$:&G!&#$!)$:=.&:!(?&6/2$0!/2!6!)$:$6)3#!.6?()6&()J!:#(=.0!?$!3(2+/)A$0!?J!62!633)$0/&$0!

3./2/36.!0/6D2(:&/3!.6?()6&()J!?$+()$!)$&=)2EXN!Y('$K$)G!/2!()0$)!&(!A/2/A/R$!&#$!(-$)6&/(26.!

/A-63&!(+!&#/:!3(20/&/(2!(2!3./2/36.!.6?()6&()/$:G!-&.1(2?73(&.,&1,36+,2+'0*3','6&0*9,&.*:,)+,

>+21&2?+9,B6+.,36+,2+'0*3,'73('1(+',36+,1&02,-&.9(3(&.','+3,&03,7)&;+"!

C2!&#/:!)$D6)0G!62!63&/(2!-.62!:#(=.0!?$!0$K$.(-$0!/2!&#$!/2/&/6.!)$:$6)3#!-)(&(3(.!/20/36&/2D!

&#6&!)$:$6)3#!)$:=.&:"'/..!?$!3(2+/)A$0G!'#$)$!2$3$::6)JE!

! !

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XL!"#/:!3(=.0! ?$! &#$!36:$G!+()! $H6A-.$G!'#$2!6! )$:$6)3#$)!=:$:!06&6!()!:6A-.$:!:&()$0!/2! 6! ?/(?62*!&#6&!'6:!

3)$6&$0!?$+()$!&#$! -=?./36&/(2! (+! &#$!"MB;! N!620! &#$!/2/&/6.! 3(2:$2&!0/0! 2(&! 600)$::! &#$! /::=$!(+!/20/K/0=6.!

)$:$6)3#!)$:=.&:!()!/23/0$2&6.!+/20/2D:E!!

XN!,:! )$3(AA$20$0G! 6A(2D! (&#$):G! ?J! &#$! M6260/62! M(..$D$! (+! 4$0/36.! 1$2$&/3/:&:G! supra!2(&$! LNP! cZM[G!

;3/$23$!620!"$3#2(.(DJ!m! j/(&$3#2(.(DJ!-(./3/$:G!OECD+ Guidelines+ for+ Quality+Assurance+ in+ Molecular+Genetic+

Testing!5B6)/:e!cZM[G!N\\X8G!(2./2$e!#&&-eSS'''E($30E()DS06&6($30SUTSWSTbbTaXbbE-0+E!

23"

B)!THAT!MAY!BE!OFFERED!TO!PARTICIPANTS!

%DAE@A%FG,!++

C20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!&#6&!0(!2(&!A$$&!&#$!3)/&$)/6!:$&!(=&!/2!B)/23/-.$!N!

5#$)$/26+&$)! 36..$0! 2(2_A6&$)/6.! /20/K/0=6.! )$:=.&:! 620!2(2_A6&$)/6.! /23/0$2&6.! +/20/2D:8!

?7:,)+,(++$)$0!&(!-6)&/3/-62&:!5/E$E!at+the+researcher’s+discretion8!'#$2e!

L8!&#$J!A$$&!&#$!D$2$)6..J!633$-&$0!3)/&$)/6!(+!:3/$2&/+/3!620!3./2/36.!K6./0/&JP!

N8!&#$!?$2$+/&:!(+!)$&=)2!:=)-6::$:!&#$!)/:*:P!!

T8!7Zj!6--)(K6.!#6:!?$$2!(?&6/2$0P!!

U8!&#$!-6)&/3/-62&!3(2:$2&$0!&(!&#$!)$&=)2P!620!

V8!&#$!)$:$6)3#!)$:=.&!#6:!?$$2!3(2+/)A$0E!!

%DH@GIJDGK,

%(2_A6&$)/6.! /20/K/0=6.! )$:=.&:! 620!2(2_A6&$)/6.! /23/0$2&6.! +/20/2D:! ?7:, )+!)$&=)2$0!&(!

-6)&/3/-62&:!5/E$E!at+the+researcher’s+discretion8!'#$2!&#$!+(..('/2D!+/K$!3(20/&/(2:!6)$!A$&e!!

1) Does!the!result!meet!generally!accepted!criteria!of!scientific!and!clinical!

validity?!!

7$:=.&:! 362! ?$!3(2:/0$)$0! &(! #6K$!:3/$2&/+/3!K6./0/&J!620!3./2/36.! K6./0/&J! '#$2! &#$J! A$$&!

D$2$)6..J!633$-&$0!3)/&$)/6!5:$$!D.(::6)J! +()!0$+/2/&/(2:!(+!&#$:$! 3(23$-&:!620!$H-.626&/(2:!

=20$)!-(/2&!LEL!(+!B)/23/-.$!N!+()!A()$!0$&6/.:8E!!

7$:=.&:!&#6&!0(!2(&!A$$&!D$2$)6..J!633$-&$0!3)/&$)/6!(+!:3/$2&/+/3!620!3./2/36.!K6./0/&/$:!should+

not!?$!)$&=)2!&(!&#$!-6)&/3/-62&GXT!?$36=:$!&#$!-(&$2&/6.!)/:*:!A6J!(=&'$/D#!&#$!?$2$+/&:!(+!

)$&=)2E!

2)!Do!the!benefits!of!returning!results!outweigh!the!risks?!!

7$:$6)3#$):!362!&)62:A/&!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!&#6&!6)$!2(2_A6&$)/6.!/+!

&#$! ?$2$+/&:! (+! &#$! )$&=)2! (=&'$/D#! &#$! )/:*:E! "#$! ?$2$+/&:! 620! &#$! )/:*:! &(! 3(2:/0$)! 6)$!

&#(:$!6++$3&/2D!&#$!-6)&/3/-62&!6:!'$..!6:!#/:!+6A/.JG!&#$!3(AA=2/&JG!620!:(3/$&J!/2!D$2$)6.E!C&!

)$A6/2:!&(!?$!0$&$)A/2$0!#('!&(!'$/D#!?$2$+/&:!+()!&#$!-6)&/3/-62&!6D6/2:&!)/:*:!&(!:(3/$&J!

5$EDE!/23)$6:$0!3(:&:8E!!

Results!that! do! not! have! scientific! and! clinical!validity! should! not! be! transmitted! to!

the!participant,XU!?$36=:$!&#$!-(&$2&/6.!)/:*:!&#$2!(=&'$/D#!&#$!?$2$+/&:!(+!)$&=)2E!!

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XT!Supra!2(&$!LX!53(AA$2&6)J8E!!

XU!Ibid.!

24"

3)!Has!the!agreement!of!the!REB!been!obtained?!!!

f#$2! 6! )$:$6)3#$)!'/:#$:! &(! )$&=)2! 2(2_A6&$)/6.! /20/K/0=6.! )$:=.&:! 620!2(2_A6&$)/6.!

/23/0$2&6.!+/20/2D:G!&#/:!:#(=.0!?$!/20/36&$0!/2!&#$!-.62!+()!A626D/2D!/2+()A6&/(2!:=?A/&&$0!

&(!&#$!7ZjE!f#$)$!6--./36?.$G!&#$!)$&=)2!(+!2(2_A6&$)/6.!/20/K/0=6.!)$:=.&:!620!2(2_A6&$)/6.!

/23/0$2&6.!+/20/2D:! :#(=.0!?$! 3(2:/:&$2&!'/&#! &#$!-.62! +()!A626D/2D!/2+()A6&/(2!6--)(K$0!

?J! &#$! 7ZjE! ,2J! 0$K/6&/(2! +)(A! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! ()! 62J! 0/++/3=.&J! /2!

6--.J/2D!&#$!-.62!:#(=.0!?$!$K6.=6&$0!?J!&#$!7ZjE!C2!-6)&/3=.6)G!&#$!)$:$6)3#$)! '#(!#6:!6!

0(=?&!6:!&(!'#$&#$)!()!2(&!&(!3(AA=2/36&$!&#$!)$:=.&!/2!&#$!3/)3=A:&623$:!:#(=.0!3(2:=.&!

62!7ZjE!

"#$!)$:$6)3#$)!3(=.0!.$D/&/A6&$.J!3#((:$!2(&!&(!-)(K/0$!2(2_A6&$)/6.!/20/K/0=6.!)$:=.&:!620!

2(2_A6&$)/6.! /23/0$2&6.! +/20/2D:!&(! -6)&/3/-62&:E!"#$! -(./3J! (+! 2(2_)$&=)2! (+! 2(2_A6&$)/6.!

/20/K/0=6.!)$:=.&:!620!2(2_A6&$)/6.!/23/0$2&6.! +/20/2D:!:#(=.0!?$! 3.$6).J!:&6&$0!/2!&#$!-.62!

+()!A626D/2D!/2+()A6&/(2!620!?$!6--)(K$0!?J!&#$!7ZjE!!

C2!&#$! 6?:$23$!(+! 6!-.62!+()! A626D/2D!/2+()A6&/(2!)$K$6.$0! &#)(=D#!D$2$&/3! )$:$6)3#!5$EDE!

'#$2! 6! )$:$6)3#!'6:! 6--)(K$0! ?J! &#$! 7Zj!-)/()! &(! &#$!-=?./36&/(2! (+! &#$!"MB;! N8G! &#$!

)$:$6)3#$)! :#(=.0! 2(&!)$&=)2! 2(2_A6&$)/6.! /20/K/0=6.! )$:=.&!()! 2(2_A6&$)/6.! /23/0$2&6.!

+/20/2D:E!

4)!Has!the!participant!consented!to!return?!!

7$:$6)3#$):! 6)$! 2(&!)$O=/)$0! &(! )$&=)2! 2(2_A6&$)/6.! /20/K/0=6.! )$:=.&:! ()! 2(2_A6&$)/6.!

/23/0$2&6.! +/20/2D:E! p(.=2&6)J! 620! /2+()A$0! 3(2:$2&! 3(2:&/&=&$:! &#$! $H-)$::/(2! (+! &#$!

-6)&/3/-62&Q:! 6=&(2(AJE! "#/:! 3(2:$2&! /:! (2.J! K6./0! /+! &#$! -6)&/3/-62&! /:! /2+()A$0! (+! &#$!

)$:$6)3#Q:!:3(-$!620!./A/&:G!2(&6?.J!3(23$)2/2D!&#$!-(::/?/./&J!(+!?$/2D!/2+()A$0!5()!2(&8!(+!

2(2_A6&$)/6.!/20/K/0=6.!)$:=.&:!620!2(2_A6&$)/6.!/23/0$2&6.!+/20/2D:E !

! !

Examples!of!benefits!

Examples!of!risks!

CA-)(K$A$2&!(+!D$2$)6.!#$6.&#G!

-)$K$2&/(2!!

,2H/$&J!+()!&#$!-6)&/3/-62&!620!&#$!

-6)&/3/-62&:!+6A/.J!

C2+()A$0!0$3/:/(2:!6?(=&!)$-)(0=3&/K$!

3#(/3$:!

9)=:&)6&/(2:!36=:$0!?J!=23$)&6/2&J!(+!)$:=.&:!

B6)&/3/-62&Q:!+$$./2D!(+!)$3/-)(3/&J!

Y=A62!620!+/2623/6.!)$:(=)3$:!)$O=/)$0!&(!

)$&=)2!!

7$:-$3&!+()!&#$!-6)&/3/-62&Q:!$H-$3&6&/(2:!

7/:*!+()!/2:=)623$!620!$A-.(J6?/./&J!

46/2&$2623$!(+!-6)&/3/-62&Q:!&)=:&!(+!

)$:$6)3#$):!

[/++/3=.&J!633$::/2D!)$:(=)3$:!+()!+(..('_=-!

36)$!!

9/2623/6.!:6K/2D:!+()!&#$!#$6.&#!:J:&$A!

CA-63&!(+!:=--()&/2D!-6)&/3/-62&!(2!&#$!#$6.&#!

:J:&$A!!

25"

="#$ %723(-(>7.3,-6&(-+,7.9,36+,2(<63,.&3,3&,N.&B,,

f#$2!&#$!)$:$6)3#$):!-)(K/0$!6!-(./3J!'#$)$!&#$!)$&=)2!(+!2(2_A6&$)/6.!/20/K/0=6.!)$:=.&:!

()!2(2_A6&$)/6.!/23/0$2&6.! +/20/2D:!/:!-(::/?.$G!-6)&/3/-62&:!:#(=.0! A6*$!/2+()A$0! 3#(/3$:!

6?(=&!'#$&#$)!&#$J! '/:#!&(! )$3$/K$!/2+()A6&/(2!()!2(&XVE!7$:-$3&! +()!/20/K/0=6.!6=&(2(AJ!

)$O=/)$:!&#6&!&#$!-6)&/3/-62&:Q!(-/2/(2!?$!:(=D#&!0=)/2D!&#$!3(2:$2&!-)(3$::E!!

4()$(K$)G!6:!consent!is!an!ongoing!process,XW!-6)&/3/-62&:!:#(=.0!#6K$!&#$!(--()&=2/&J!&(!

)$+=:$!&(!?$!/2+()A$0!(+!/20/K/0=6.! )$:=.&:!620!/23/0$2&6.! +/20/2D:! 6&! 62J! &/A$! 0=)/2D! &#$!

)$:$6)3#XXE!9(..('/2D! &#/:!-)/23/-.$G!/+!6!-6)&/3/-62&! #6:!/20/36&$0!/2!&#$!-.62! +()!A626D/2D!

/2+()A6&/(2! 6! '/:#! &(! )$3$/K$! /20/K/0=6.! )$:=.&:! 620!/23/0$2&6.! +/20/2D:G! &#$! )$:$6)3#$)!

:#(=.0!2$K$)&#$.$::!3(2+/)A!&#$!-6)&/3/-62&Q:!'/../2D2$::!?$+()$!)$&=)2/2D!&#$!)$:=.&:E!!

C2!&#$!36:$!(+!)$+=:6.G!the!right!not!to!know!:#(=.0!?$!)$:-$3&$0E!B6)&/3/-62&:!'#(!/2/&/6..J!

)$+=:$0!)$:$6)3#! )$:=.&:! A/D#&! 3#62D$! &#$/)! A/20:! 0=)/2D! &#$! )$:$6)3#!620! 2(&/+J!&#$!

)$:$6)3#!&$6AE!7$:$6)3#$):!6)$!2(&!(?./D$0!&(!633$-&!3#62D$:!(+!(-/2/(2!?$J(20!&#$!+=20/2D!

-$)/(0!(+!&#$!)$:$6)3#E!

="4$ M673,67>>+.',B6+.,36+,(.(3(7*,-&.'+.3,9&+',.&3,7992+'',36+,2+302.,&1,2+'+72-6,

2+'0*3',(''0+L++

f#$2!/2/&/6.!3(2:$2&!0($:!2(&!600)$::!&#$!/::=$!(+!)$&=)2!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!

+/20/2D:!5$EDE! '#$2! &#$! )$:$6)3#! 3(2:$2&! '6:! (?&6/2$0!?$+()$!&#$! -=?./36&/(2! (+! &#$! "MB;!

NXb8G! &#$! )$:$6)3#$)! :#(=.0! 2(&! )$&=)2! 2(2_A6&$)/6.! /20/K/0=6.! )$:$6)3#! )$:=.&:! 620! 2(2_

A6&$)/6.!/23/0$2&6.!+/20/2D:!&(!-6)&/3/-62&:E!!

5)!Has!the!result!been!confirmed?!

j$36=:$!$))():!/2! &#$!)$:=.&:! (+!D$2$&/3!&$:&:! 362!#6K$! :$)/(=:!620! :(A$&/A$:!/))$K$):/?.$!

3(2:$O=$23$:G! &#$! )$:$6)3#$)! :#(=.0! 0$K$.(-! A$3#62/:A:! &(! )$0=3$! ()! A626D$! &#$! )/:*:!

/2K(.K$0! ?J! /2$H63&! &$:&/2D!620!&(! $2:=)$!:3/$2&/+/3!K6./0/&J!(+! &#$! )$:=.&E",.&#(=D#! &#$!

K6./0/&J!(+!6!&$:&!/:!I=0D$0!(2!&#$!$K/0$23$!620!2(&!(2!&#$!&J-$!(+!.6?()6&()J!&#6&!-$)+()A$0!

&#$!&$:&G!&#$!)$:=.&:!(?&6/2$0!/2!6!)$:$6)3#!.6?()6&()J!:#(=.0!?$!3(2+/)A$0!?J!62!633)$0/&$0!

3./2/36.! 0/6D2(:&/3! .6?()6&()J!?$+()$! &#$!)$&=)2! (+! &#$! /20/K/0=6.! )$:=.&:! ()!/23/0$2&6.!

+/20/2D:! &(! &#$! -6)&/3/-62&EXa!Y('$K$)G!/2! ()0$)! &(! A/2/A/R$! &#$! (-$)6&/(26.! /A-63&! (2!

3./2/36.! .6?()6&()/$:G! -&.1(2?73(&., &1, 36+, 2+'0*3', '6&0*9, &.*:, )+, >+21&2?+9, B6+., 36+,

2+'0*3,'73('1(+',36+,1&02,-&.9(3(&.','+3,&03,7)&;+""

C2!&#/:!)$D6)0G!62!63&/(2!-.62!:#(=.0!?$!0$K$.(-$0!/2!&#$!/2/&/6.!)$:$6)3#!-)(&(3(.!/20/36&/2D!

&#6&!)$:$6)3#!)$:=.&:"'/..!?$!3(2+/)A$0G!'#$)$!2$3$::6)JE!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

XV!"MB;!NG!supra!2(&$!L!6&!6)&!LTET568E!

76!Ibid!6&!6)&!TETE!

XX!Supra!2(&$!LNE!

Xb!4()$! :-$3/+/36..JG! &#/:! 3(=.0! ?$! &#$! 36:$G! +()! $H6A-.$G! '#$2! 6! )$:$6)3#$)! =:$:! D$2$&/3! 06&6! ()! :&()$0!

?/(.(D/36.!:6A-.$:!/2!6!?/(?62*!3)$6&$0!?$+()$!&#$!-=?./36&/(2!(+!&#$!"MB;!N!'#$)$!&#$!/2/&/6.!3(2:$2&!0/0!2(&!

600)$::!&#$!/::=$!(+!/20/K/0=6.!)$:=.&:!()!/23/0$2&6.!+/20/2D:E!

Xa!Supra!2(&$!LNE!;$$!6.:(!supra!2(&$!XNE!

26"

C) THAT!HAVE!IMPLICATIONS!FOR!FAMILY!MEMBERS!

%DAE@A%FG,=,,

C&! /:! -(::/?.$! &#6&! /20/K/0=6.! )$:=.&:!620! /23/0$2&6.! +/20/2D:! #6K$! /A-./36&/(2:! +()! &#$!

-6)&/3/-62&Q:!BIOLOGICAL!RELATIVES.!i20$)!3$)&6/2!3/)3=A:&623$:G!&#$:$!)$:=.&:!?7:,)+!!

)$&=)2$0!5/E$E!at+the+researcher’s+discretion8!&(!+6A/.J!A$A?$):!'#$2e!

L8!&#$J!A$$&!&#$!D$2$)6..J!633$-&$0!3)/&$)/6!(+!:3/$2&/+/3!620!3./2/36.!K6./0/&JP!

N8!&#$!?$2$+/&:!(+!&#$!)$&=)2!(=&'$/D#!&#$!)/:*:P!

T8!7Zj!6--)(K6.!#6:!?$$2!(?&6/2$0P!!

U8!&#$!)$:$6)3#!)$:=.&!#6:!?$$2!3(2+/)A$0P!!

V8!&#$!-6)&/3/-62&!6D)$$:!&(!:#6)$!&#$!)$:=.&!'/&#!?/(.(D/36.!)$.6&/K$:P!620!!

W8!&#$!?/(.(D/36.!)$.6&/K$:!3(23$)2$0!6D)$$!&(!)$3$/K$!&#$!)$:=.&:E!

%DH@GIJDGK,

1) Is!the!result!meeting!generally!accepted!criteria!of!scientific!and!clinical!

validity?!!

7$:$6)3#$):! 3(=.0!3(2:/0$)! )$&=)2/2D! /20/K/0=6.! )$:=.&:!620!/23/0$2&6.! +/20/2D:!'/&#!

/A-./36&/(2:! +()! +6A/.J! A$A?$):! /+! &#$! )$:=.&! A$$&:! &#$! D$2$)6..J! 633$-&$0!3)/&$)/6! (+!

:3/$2&/+/3!620!3./2/36.!K6./0/&J!5:$$!D.(::6)J!+()!0$+/2/&/(2:!(+!&#$:$!3(23$-&:!620!)$+$)!&(!&#$!

$H-.626&/(2:!=20$)!B)/23/-.$!N!+()!A()$!0$&6/.:!(2!&#$:$!3)/&$)/68E!

7$:=.&:!&#6&!0(!2(&!A$$&!D$2$)6..J!633$-&$0!3)/&$)/6!(+!:3/$2&/+/3!620!3./2/36.!K6./0/&J!should+

not!?$! )$&=)2$0!&(! 6! +6A/.J! A$A?$)Gb\!?$36=:$! &#$! -(&$2&/6.! )/:*:!&#$2! (=&'$/D#!&#$!

?$2$+/&:!(+!)$&=)2E!!

2) Do!the!benefits!of!returning!results!outweigh!the!risks?!

7$:$6)3#$):! 3(=.0! 3(2:/0$)! )$&=)2/2D! /20/K/0=6.! )$:=.&:! 620! /23/0$2&6.! +/20/2D:!'/&#!

/A-./36&/(2:!+()!+6A/.J!A$A?$):!/+!&#$!?$2$+/&:!(+!&#$!)$&=)2!(=&'$/D#!&#$!)/:*:E!,:!:-$3/+/$0!

6?(K$G! &#$! ?$2$+/&:! 620!)/:*:! &(! 3(2:/0$)! 6)$! &#(:$! &#6&! 6++$3&! &#$! -6)&/3/-62&G! +6A/.J!

A$A?$):G! 620! :(3/$&J! /2! D$2$)6.E! "(! 3(2:=.&! 6! &6?.$! (+! :-$3/+/3! $H6A-.$:! (+! ?$2$+/&:! 620!

)/:*:G!:$$!&#$!-)(3$0=)$!:$3&/(2!(+!B)/23/-.$!TE!!

3) Has!the!agreement!of!the!REB!been!obtained?!!

C2! &#$! 3(2&$H&! (+! A$0/36.! ()! D$2$&/3! )$:$6)3#G! &#$! -.62! +()! A626D/2D! /2+()A6&/(2! :#(=.0!

600)$::! /2+()A6&/(2! ./*$.J! &(! $A$)D$! +)(A! &#$! )$:$6)3#! &#6&! 3(=.0! 6..('! &)$6&/2DG!

-)$K$2&/2D!()!6..$K/6&/2D!6!#$6.&#!3(20/&/(2!./*$.J!&(!6++$3&!6!-6)&/3/-62&Q:!+6A/.J!A$A?$)E!!

f#$2!6! )$:$6)3#$)! '/:#$:! &(! )$&=)2!/20/K/0=6.! )$:=.&:! ()!/23/0$2&6.! +/20/2D:! &(! ?/(.(D/36.!

)$.6&/K$:G!#$!:#(=.0!(?&6/2!&#$!6D)$$A$2&!(+!&#$!7ZjE!!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

b\!Supra!2(&$!LXE!;$$!6.:(!supra!2(&$!WNE!

27"

4) Has!the!research!result!been!confirmed?!

,:!-)$K/(=:.J!$H-.6/2$0G!)$:$6)3#$):!:#(=.0!&)J!&(!$2:=)$!&#$!:3/$2&/+/3!K6./0/&J!(+!&#$!)$:=.&E!

C2!&#$!6.&$)26&/K$G!&#$J!:#(=.0!0$K$.(-! A$3#62/:A:!&(!)$0=3$! ()!A626D$!&#$! )/:*:!3)$6&$0!

?J!/2$H63&!&$:&/2DE!"#$!)$:=.&:!(?&6/2$0!/2!6!)$:$6)3#!.6?()6&()J!:#(=.0!?$!3(2+/)A$0!?J!62!

633)$0/&$0! 3./2/36.! 0/6D2(:&/3! .6?()6&()J!?$+()$! )$&=)2! &(! &#$! -6)&/3/-62&EbL!Y('$K$)G!/2!

()0$)! &(! A/2/A/R$! &#$! (-$)6&/(26.! /A-63&! (+! &#/:! 3(20/&/(2! 53(:&! 620! /A-63&! (2! 3./2/36.!

.6?()6&()/$:8G! confirmation+ of+ the+ results+ should+ only+ be+ performed+ when+ the+ previous+

conditions+set+out+above+are+met.+

5)!Has!the!participant!agreed!to!share!the!result!with!biological!relatives?!

,&!&#$!&/A$!(+!&#$!3(2:$2&!-)(3$::G!-6)&/3/-62&:!:#(=.0!?$!6?.$!&(!$H-)$::!&#$/)!-)$+$)$23$:!

'/&#!)$D6)0!&(!&#$!)$&=)2!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!&(!?/(.(D/36.!)$.6&/K$:G!

6:! '$..! 6:! &(! (&#$)! -$):(2:! '/&#! '#(A! &#$J! :#6)$! &/$:! 5+6A/.JG! 3(AA=2/&JG! ()! 62(&#$)!

D)(=-8EbN!!

C+!6!A6&$)/6.!/20/K/0=6.!)$:=.&!()!A6&$)/6.!/23/0$2&6.!+/20/2D!/:!)$&=)2$0!&(!6!-6)&/3/-62&!5:$$!

3(20/&/(2:!=20$)!B)/23/-.$!N8!620!&#/:!)$:=.&!#6:!-(&$2&/6.!#$6.&#!/A-()&623$!+()!6!?/(.(D/36.!

)$.6&/K$G! &#$! )$:$6)3#$)!:#(=.0! $23(=)6D$! &#$!-6)&/3/-62&! &(! :#6)$! &#$! /2+()A6&/(2! '/&#!

)$.6&$0!?/(.(D/36.! )$.6&/K$:! /2! $H-.6/2/2D! &#$! /A-()&623$! (+! &#$! /2+()A6&/(2! +()! &#$AE! C+!

2$3$::6)JG!&#$!-6)&/3/-62&!:#(=.0!?$!:=--()&$0!?J!&#$!)$:$6)3#$)!+()!&#$!3(AA=2/36&/(2!(+!

&#$!)$:=.&!&(!&#$!3(23$)2$0!)$.6&/K$:EbT!C+!&#$!-6)&/3/-62&k:!)$+=:6.! -$):/:&:G!&#$!)$:$6)3#$)!

:#(=.0! 3(2:=.&!&#$!7ZjbU!&(! 0$&$)A/2$! &#$! 6--)(-)/6&$! 3(=):$! (+! 63&/(2!/2! &#$!

3/)3=A:&623$:E!

6)!Do!the!biological!relatives!agree!to!receive!the!results?!

R"#$,,, @&.'+.3,7.9,36+,2(<63,.&3,3&,N.&B,1&2,)(&*&<(-7*,2+*73(;+',,

j/(.(D/36.! )$.6&/K$:! 6.:(! #6K$!6!@)/D#&! 2(&! &(! *2('F! D$2$&/3! /2+()A6&/(2! &#6&! )$.6&$:! &(!

&#$AbVE!M(2:$O=$2&.JG!'#$2! 6! -6)&/3/-62&! ()!)$:$6)3#$)!6--)(63#$:!?/(.(D/36.!)$.6&/K$:!&(!

(++$)! A6&$)/6.! )$:=.&:! 5()! A6&$)/6.! /23/0$2&6.! +/20/2D:8! &#6&! 6++$3&! &#$A!-$):(26..JG!&#$!

-$):(2! :#(=.0! -)$:$2&!&#$! :/&=6&/(2! '/&#!K/D/.623$G! *$$-/2D! /2! A/20! &#6&! &#$! ?/(.(D/36.!

)$.6&/K$:!0(!2(&!$H-$3&!&(!)$3$/K$!:=3#!/2+()A6&/(2G!620!?$/2D!6&&$2&/K$!&(!:/D2:!:=DD$:&/2D!

&#6&!&#$J!-)$+$)!2(&!&(!?$!/2+()A$0!(+!&#$!)$:=.&:E!

! !

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bL!Supra!2(&$!LNE!;$$!6.:(!supra!2(&$!XWE!

bN!"MB;!NG!supra!2(&$!L!6&!6)&:!LTEN!_LTETE!

83";$$!6.:(!6?(K$!:$3&/(2!4(06./&/$:!(+!M(AA=2/36&/(2E"

bU!"MB;!NG!supra!2(&$!L!6&!6)&!VENE!

bV!International+Declaration+on+Human+Genetic+Data,+TNM!7$:!LVG!i%Z;McG!TN20!:$::/(2!5N\\T8!:!L\E!

28"

EXCEPTIONS!\!Principles!5!to!7!

C&! /:! /A-(::/?.$! &(! 6--.J! 6! :/2D.$! 6--)(63#! &(! 6..! )$:$6)3#! 3(2&$H&:E! C&! /:! -6)&/3=.6).J!

/A-()&62&! &(! 3(2:/0$)! &#$! :-$3/+/3! 3/)3=A:&623$:! (+!-6)&/3/-62&:E! "#$! K=.2$)6?/./&J! (+!

-6)&/3/-62&:!/:!6!3)=3/6.!$.$A$2&!620!.$60:!&(!3$)&6/2!36&$D()/$:!(+!$H3$-&/(2:E!

A) MINORS!!!

1) Justification!Principle!5!\!What!is!the!best!interest!of!the!child?!+

"#$! ?$:&! /2&$)$:&! (+! &#$! 3#/.0! 3(2:&/&=&$:+62! essential!3(2:/0$)6&/(2! +()! 6..! 0$3/:/(2:!

3(23$)2/2D! A/2():EbW! "#$! A/2()Q:! -6)$2&:! should! not! )$+=:$! &#$! 3(AA=2/36&/(2! (+!

/20/K/0=6.! )$:=.&:! ()! /23/0$2&6.! +/20/2D:!'#$2! &#$! 3#/.0Q:! /AA$0/6&$! #$6.&#! /:! ./*$.J! &(!

?$2$+/&!+)(A! )$&=)2! (+! )$:=.&:!5$EDE!$6).J! (2:$&! :$)/(=:! 0/:$6:$!+()!'#/3#G! 633()0/2D! &(! &#$!

$K/0$23$_?6:$0G! &)$6&A$2&! ()! -)$K$2&/K$! A$6:=)$:! A=:&! ?$! /2/&/6&$0!0=)/2D! 3#/.0#((0! ()!

60(.$:3$23$8E!A+ refusal+ to+ receive+ this+ category+ of+ result+ could+ be+ considered+ as+ a+ refusal+ of+

care+required+for+the+health+of+a+minor.+!

%DAE@A%FG,S,,

C20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!3(23$)2/2D!6!MINOR!'6&0*9,)+,)$&=)2$0!'#$2!6..!

&#$!+(..('/2D!3(20/&/(2:!6)$!A$&e!!

LE!&#$J!A$$&!&#$!D$2$)6..J!633$-&$0!3)/&$)/6!(+!:3/$2&/+/3!620!3./2/36.!K6./0/&JP!

NE!&#$J!#6K$!:/D2/+/362&!/A-./36&/(2:!+()!&#$!#$6.&#!(+!&#$!A/2()P!!

TE!$++$3&/K$! &)$6&A$2&! ()! -)$K$2&/(2!/:! 6K6/.6?.$! 620! :#(=.0! ?$! /2/&/6&$0!during!

childhood!or!adolescenceP!!

UE!7Zj!6--)(K6.!#6:!?$$2!(?&6/2$0P!620!

VE!&#$!)$:$6)3#!)$:=.&!#6:!?$$2!3(2+/)A$0E!

i20$)!&#$:$!3/)3=A:&623$:G!&#$!-6)$2&:!'6&0*9,.&3!)$+=:$!&#$!)$&=)2!(+!)$:=.&:E!,!)$+=:6.!&(!

)$3$/K$!&#/:!36&$D()J!(+!)$:=.&!3(=.0!?$!3(2:/0$)$0!A$0/36.!2$D.$3&E!!

! !

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bW!Convention+ on+ the+ Rights+ of+ the+ Child,!N\! %(K$A?$)! LabaG! LVXX! i%";! NXVTL! 6&! TG! :!T5L8G! (2./2$e!

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29"

2) Justification!Principle!6! \!Do!the! benefits!of!returning! results! outweigh!the!

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C) DECEASED!PARTICIPANTS!!

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33"

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ADDITIONAL!CONSIDERATIONS!RELATED!TO!

RESEARCH!CONTEXT!\!Principles!8!to!10!

C&!/:!/A-(::/?.$!&(!6--.J!6!:/2D.$!6--)(63#!&(!6..!)$:$6)3#!3(2&$H&:E!"#$)$+()$G!/&!/:!/A-()&62&!

&(!&6*$!3$)&6/2!3(2&$H&=6.!$.$A$2&:!/2&(!3(2:/0$)6&/(2!&(!0$&$)A/2$!/+!62!/20/K/0=6.!)$:=.&!()!

/23/0$2&6.!+/20/2D!:#(=.0!?$!)$&=)2$0!&(!&#$!-6)&/3/-62&E!!

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B)/23/-.$:!L!&(!X!'#$)$!6--./36?.$E!!

A) BIOBANKS!!

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f#$2! ?/(.(D/36.! :6A-.$:! ()! A$0/36.SD$2$&/3! 06&6! 6)$! 0$-(:/&$0! /2! 6! BIOBANK! +()! +=&=)$!

=:$G!&#$!O=$:&/(2! (+! )$:$6)3#! )$:=.&:! A626D$A$2&! 620! )$&=)2! '6&0*9, )+, 600)$::$0!/2!&#$!

?/(?62*Q:! A626D$A$2&! -(./3JG! 620! A()$! :-$3/+/36..J! /2! &#$! 6D)$$A$2&! +()! &#$! &)62:+$)!(+!

A$0/36.SD$2$&/3!06&6!()!?/(.(D/36.!A6&$)/6.E!!

34"

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A626D$A$2&!362!?$!633()0$0!&(!0/++$)$2&!-$(-.$!0$-$20/2D!(2!&#$!?/(?62*E!1$2$)6..JG!&#$!

-)/23/-6.! /2K$:&/D6&()! ()! /2K$:&/D6&():! #6K$! &#$! 0=&J! &(! -)(&$3&! &#$! 3(2+/0$2&/6./&J! 620G! /+!

2$$0!?$G!&#$!)$&=)2!(+!)$:$6)3#!)$:=.&:E!%$K$)&#$.$::G!/2!:(A$!)$:$6)3#!3(2&$H&:G!+()!$H6A-.$!

'#$2!)$:$6)3#!)$:=.&:!6)$!$23(=2&$)$0!?J!)$:$6)3#$):!=:/2D!6!D$2$&/3!06&6?62*!()!?/(?62*G!

&#$!0=&J! &(!)$&=)2! )$:=.&:!A6J!?$! +)6A$0! ?J!&#$!A626D$A$2&! -(./3/$:! (+!&#$! ?/(?62*! 620!

600)$::$0!:-$3/+/36..J! /2! &#$! &)62:+$)! 6D)$$A$2&:! +()! &#$!06&6!()!?/(.(D/36.! A6&$)/6.:E! "#$!

-)/23/-.$:!&(!?$!3(2:/0$)$0!?J!&#$!?/(?62*!:#(=.0!$23(A-6::!&#(:$!.6/0!(=&!/2!B)/23/-.$:!L_

bG!620G!/+!6--./36?.$!/2!&#$!3(2&$H&!(+!&#$!3(23$)2$0!?/(?62*G!B)/23/-.$:!a!()!L\E!

B) POPULATION\BASED!RESEARCH!!

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C2!POPULATION\BASED! RESEARCHG! :(A$! $.$A$2&:! ./2*$0! &(!&#$!)$:$6)3#! 3(2&$H&! 3(=.0!

)$20$)!&#$!)$&=)2!(+!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!/A-(::/?.$!()!=2)$6:(26?.$E!!

"#$! +(..('/2D! $.$A$2&:! ?7:,)++3(2:/0$)$0!/2! :=3#! 62! 6::$::A$2&! 620! &(! )$O=$:&! 6! 7Zj!

'6/K$)!3(23$)2/2D!&#$!3(AA=2/36&/(2!(+!)$:$6)3#!)$:=.&:e!

L8!&#$!:3(-$!(+!)$:$6)3#!(?I$3&/K$:P!!

N8!&#$!2=A?$)!(+!-6)&/3/-62&:!/2K(.K$0P!!

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f#$2! )$&=)2! (+! /20/K/0=6.! )$:=.&:!620! /23/0$2&6.! +/20/2D:! 6--$6):! /A-(::/?.$! ()!

=2)$6:(26?.$G!&#$!-.62!+()!A626D/2D!/2+()A6&/(2!:#(=.0!3.$6).J!-$)A/&!-6)&/3/-62&:!&(!A6*$!

62! /2+()A$0! 0$3/:/(2! 6:! &(! &#$/)! -6)&/3/-6&/(2! /2! &#$! )$:$6)3#E! C&! /:! /A-()&62&! &#6&!

-6)&/3/-62&:!0(!2(&!#6K$!=2)$6./:&/3!$H-$3&6&/(2:!'/&#!)$D6)0!&(!)$&=)2!(+!/20/K/0=6.!)$:=.&:!

620!/23/0$2&6.!+/20/2D:E!!

! !

35"

C) LONGITUDINAL!RESEARCH!!

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C2!LONGITUDINAL!RESEARCHG!&#$!26&=)$!(+!&#$!)$.6&/(2:#/-!?$&'$$2!&#$!)$:$6)3#$)!620!

&#$!-6)&/3/-62&!could!A(0/+J!$H-$3&6&/(2:!+()!&#$!)$&=)2! (+! )$:$6)3#! )$:=.&:E! 9()! $H6A-.$G!

$H-$3&6&/(2:!(+!3(AA=2/36&/(2!(+!)$:$6)3#!)$:=.&:!3(=.0!?$!/2&$2:/+/$0!/+!6!-6)&/3/-62&!'6:!

)$D=.6).J!)$3(2&63&$0E!!

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+63&():!?7:,)+!3(2:/0$)$0e!!

L8 2=A?$)!(+!-6)&/3/-62&:!/2K(.K$0!/2!&#$!)$:$6)3#P!!

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V8!!'#$&#$)!&#$!)$:$6)3#$)!/:!6.:(!&#$!-6)&/3/-62&Q:!&)$6&/2D!-#J:/3/62E!!

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C2!&#$!3(2&$H&!(+!.(2D/&=0/26.!)$:$6)3#G!/&!'(=.0!?$!I=0/3/(=:!&(!6:*!-6)&/3/-62&:!+()!&#$!26A$!

620!3(2&63&!/2+()A6&/(2!(+!&#$/)!&)$6&/2D!-#J:/3/62E!!

f#$2! .(2D/&=0/26.! )$:$6)3#! /2K(.K$:! A/2():G! &#$! )$:$6)3#$)! :#(=.0! (++$)! &#$! )$:=.&:! &(!

-6)&/3/-62&:!'#$2!&#$J!)$63#!&#$!6D$!(+!A6I()/&J!0=)/2D!&#$!)$:$6)3#E!!

MODALITIES!OF!COMMUNICATION!

M(AA=2/36&/(2!A(06./&/$:!:#(=.0!?$!3.$6).J!(=&./2$0!/2!&#$!-.62!+()!A626D/2D!/2+()A6&/(2!

)$K$6.$0!&#)(=D#!&#$!)$:$6)3#Ea\!!7$A$A?$)!&#6&!&#$!-.62:!+()!A626D/2D!/2+()A6&/(2!:#(=.0!

+()A! -6)&! (+! &#$! $H-.626&/(2! D/K$2! &(! @-(&$2&/6.F! -6)&/3/-62&:G! &#$)$+()$! -)$+$)6?.J! 6&! &#$!

&/A$!(+!3(2:$2&G!:(!&#6&!-6)&/3/-62&:!362!A6*$!62!/2+()A$0!0$3/:/(2!6:!&(!&#$/)!-6)&/3/-6&/(2!

/2!&#$! )$:$6)3#E! "#$!)/D#&!&(! ?$! /2+()A$0!(+!6! -.62! +()!A626D/2D!/2+()A6&/(2! &#6&! A6J! ?$!

)$K$6.$0! &#)(=D#! )$:$6)3#! /:! 62! $H&$2:/(2! (+! &#$! )$3(D2/R$0! )/D#&! &(! +)$$! 620! /2+()A$0!

3(2:$2&EaL!

I) Liability!

7$:$6)3#$):!:#(=.0!:#('!36=&/(2!'#$2!0/:3.(:/2D!)$:$6)3#!)$:=.&:E!C2!36:$!&#$)$!/:!0(=?&!6:!

&(!&#$!A(:&!6--)(-)/6&$!A$&#(0! +()! )$&=)2/2D! )$:=.&:! &(! -6)&/3/-62&:G!&#$J!:#(=.0!3(2:=.&!

'/&#!&#$/)!7ZjG!620!A6J!6.:(!3(2:=.&!&#$/)!3(..$6D=$:EaN!!

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a\!"MB;!NG!supra!2(&$!L!6&!6)&!LTETE!

aL!Ibid!6&!6)&!LTEN538E!

aN!Ibid+6&!6)&!TEUE!!

36"

`/6?/./&J! +()! A626D/2D! )$:$6)3#! )$:=.&:! 3(=.0! +6..! &(! 0/++$)$2&! -$(-.$! /2! 0/++$)$2&! )$:$6)3#!

3(2&$H&:E!1$2$)6..JG! &#$!-)/23/-6.!/2K$:&/D6&()! ()!/2K$:&/D6&():! 6)$!./6?.$!+()! -)(&$3&/2D!&#$!

3(2+/0$2&/6./&J! (+! /2+()A6&/(2! 620G! /+! 2$$0! ?$G! +()! &#$! )$&=)2! (+! )$:$6)3#! )$:=.&:E!

%$K$)&#$.$::G! /2! 3$)&6/2! )$:$6)3#! 3(2&$H&:G! +()! $H6A-.$! '#$2! )$:$6)3#! )$:=.&:! 6)$!

$23(=2&$)$0!?J!)$:$6)3#$):!633$::/2D!6!D$2$&/3!06&6?62*!()!?/(?62*G!./6?/./&J!+()!&#$!)$&=)2!

(+! )$:$6)3#! )$:=.&:! 3(=.0! ?$! +)6A$0! ?J! &#$! ?/(?62*Q:! A626D$A$2&! -(./3JG! 620! 600)$::$0!

:-$3/+/36..J!/2!&)62:+$)!6D)$$A$2&:!+()!&#$!06&6!()!?/(.(D/36.!A6&$)/6.E!"#$!+6/.=)$!&(!0/:3.(:$!

A6&$)/6.!+/20/2D:!A6J!6.:(!.$60!&(!.$D6.!./6?/./&JE!

II) Who!returns!the!results?!!

7$ 56+,2+'+72-6+2,&2,&.+,&1,6(',-&**+7<0+'!

f#$2!/20/K/0=6.!)$:=.&:!620!/23/0$2&6.!+/20/2D:!3(=.0!?$!)$&=)2$0!&(!-6)&/3/-62&:!620!'#$2!

-)/()! 3(2:$2&! +()! &#$! )$&=)2! #6:! ?$$2! (?&6/2$0G! )$:=.&:! :#(=.0! ?$! $H-.6/2$0! ?J! &#$!

)$:$6)3#$)!/+!#$!()!:#$!#6:!&#$!2$3$::6)J!3(A-$&$23$G!()!?J!6!A$A?$)!(+!&#$!)$:$6)3#!&$6A!

5$EDE!6!#$6.&#!-)(+$::/(26.!()!O=6./+/$0!-)(+$::/(26.G!:=3#!6:!6!2=):$!()!D$2$&/3!3(=2:$..()8EaT!

)$ Z+.+3(-,-&0.'+**(.<,

7$:$6)3#$):! '#(! $2K/:/(2! )$&=)2/2D! /20/K/0=6.! )$:=.&:! /2! D$2$&/3! )$:$6)3#! 620! /23/0$2&6.!

+/20/2D:!:#(=.0!$2D6D$G!'#$)$!-$)&/2$2&G!D$2$&/3!3(=2:$../2D!:$)K/3$:!/2!()0$)!&(!$H-.6/2!&#$!

3./2/36.!:/D2/+/3623$!()!3(2:$O=$23$:!(+!&#$!/2+()A6&/(2aUG!2(&6?.J!&#$!3./2/36.!:/D2/+/3623$!(+!

&#$!/2+()A6&/(2G!&#$! &/A$./2$::!(+!62!/2&$)K$2&/(2!()! ./+$:&J.$!3#62D$:G!620!&#$!-)(:-$3&/K$!

/A-./36&/(2:!(+!&#/:!/2+()A6&/(2!+()!A$A?$):!(+!&#$!-6)&/3/-62&Q:!?/(.(D/36.!+6A/.JE!!

f#$2!)$:$6)3#$):!)$&=)2!)$:=.&:!&(!(&#$)!+6A/.J!A$A?$):!()!&(!A$A?$):!(+!6!3(AA=2/&J!()!

D)(=-G!&#$J!:#(=.0!$O=6..J!+63/./&6&$!633$::!&(!D$2$&/3!3(=2:$..():!+()!&#$!6++$3&$0!-6)&/$:E!!

"#$! 26&=)$!620! :3(-$! (+! &#$! D$2$&/3! 3(=2:$../2D! :#(=.0! ?$! 0$+/2$0! '/&#! )$+$)$23$! &(! &#$!

/A-./36&/(2:!(+!&#$!)$:=.&:!620!&#$/)!-6)&/3=.6)! :/D2/+/3623$!+()!&#$! /20/K/0=6.!3(23$)2$0!()!

+()!&#$! A$A?$):! (+! #/:! ()! #$)! +6A/.JG! /23.=0/2D! -)(:-$3&/K$! /A-./36&/(2:! +()! )$-)(0=3&/K$!

3#(/3$:E!"#$!3(=2:$../2D!:#(=.0!?$!0$./K$)$0!/2!6!2(2_-)$:3)/-&/K$!A622$)E!!

1$2$&/3!3(=2:$../2D!:#(=.0!?$! D/K$2!?J!6! &)6/2$0!620!$H-$)/$23$0!/20/K/0=6.G!6.&#(=D#!/&!/:!

2(&!2$3$::6)J!&#6&!#$!()!:#$!#(.0!6!0/-.(A6!/2!D$2$&/3!3(=2:$../2DaVE!

! !

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aT!"#$:$!0=&/$:!6)$!&#$!:6A$!6:!&#(:$!:&6&$0!(K$)!&$2!J$6):!6D(!/2!&#$!741,!Statement+of+Principles:+Human+

Genome+Research!5;$$!%$&'()*!(+!,--./$0!1$2$&/3!4$0/3/2$!5741,8G!Statement+of+Principles:+Human+Genome+

7$:$6)3#!5N\\\8G!(2./2$e!#&&-eSS'''E)AD6EO3E36S$2S/::=$:E#&A.E8!

aU!"MB;!NG!supra!2(&$!L!6&!6)&!LTEUE!

aV!IbidE!!!

37"

III. Time!of!return!

C20/K/0=6.! )$:=.&:!620! /23/0$2&6.! +/20/2D:! :#(=.0! ?$! )$&=)2$0! 6&! 62! (--()&=2$! &/A$G!

3(2:/0$)/2D! &#$! 36&$D()J! (+! &#$! )$:=.&:! 620! &#$! 3/)3=A:&623$:E! "#$! -.62! +()! A626D/2D!

/2+()A6&/(2! :#(=.0! 600)$::! &#$:$! 6:-$3&:! 3.$6).JE! C2! 36:$! (+! 0(=?&G! &#$! )$:$6)3#$)! :#(=.0!

3(2:=.&!#/:!7ZjE!!

IV. To!whom!should!results!be!returned?!

7$&=)2! (+! /20/K/0=6.! )$:=.&:! 620! /23/0$2&6.! +/20/2D:!3(=.0! ?$! 0(2$! 0/)$3&.J! '/&#! &#$!

-6)&/3/-62&G! 6! 0$:/D26&$0! #$6.&#! -)(+$::/(26.G! ()! 6! &#/)0! -6)&J! 6=&#()/R$0! &(! )$3$/K$! &#$!

/2+()A6&/(2EaW!!"#$!)$3/-/$2&!(+!&#$!/2+()A6&/(2!362!K6)J!D/K$2!&#$!3(2&$H&!(+!&#$!)$:$6)3#E!

"#$!-.62!+()!A626D/2D!/2+()A6&/(2!:#(=.0!600)$::!&#/:!:=?I$3&E!!

f#$2!&#$!-6)&/3/-62&!/:!62!60=.&!'/&#!36-63/&JG!&#$!)$:=.&! 3(=.0!?$!)$&=)2$0!0/)$3&.J!&(!&#$!

-6)&/3/-62&G!()!&(!62!6=&#()/R$0!&#/)0!-6)&J!5$EDE!0$:/D26&$0!#$6.&#!-)(+$::/(26.!()!?/(.(D/36.!

)$.6&/K$:8!5:$$!B)/23/-.$:!UG!WG!X8E!!

f#$2! &#$! -6)&/3/-62&! /:! 62! /236-6?.$! 60=.&G! &#$! )$:=.&! :#(=.0! ?$! )$&=)2$0! &(! &#$!.$D6.!

)$-)$:$2&6&/K$E!f#$2!-(::/?.$G!&#$!)$:=.&:!:#(=.0!6.:(!?$!$H-.6/2$0!&(!&#$!/236-6?.$!60=.&G!/2!

6!A622$)!6--)(-)/6&$!&(!#/:!.$K$.!(+!3(A-)$#$2:/(2E!!

f#$2! &#$! )$:$6)3#! -)(I$3&! /2K(.K$:! J(=2D! 3#/.0)$2G! )$:=.&:! :#(=.0! ?$! )$&=)2$0! &(! #/:!

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-6)$2&!()!&(!?(&#E!!

f#$2! &#$! )$:$6)3#! -)(I$3&! /2K(.K$:! 60(.$:3$2&:G! )$:=.&:! :#(=.0! 6.:(! ?$! )$&=)2$0! &(! &#$A!

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?$!/A-()&62&!&(!+/):&!0/K=.D$!0$./36&$!/2+()A6&/(2!&(!&#$!60(.$:3$2&E!!

C2!&#$!36:$!(+!.(2D/&=0/26.!)$:$6)3#G!)$:$6)3#$):!3(=.0!(++$)!&(!)$&=)2!)$:=.&:!&(!-6)&/3/-62&:!

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aW!Ibid!6&!6)&!LTETE!!!

aX!,)&!LaU!MM>E!!

38"

CONCLUSIONS!

"#$! )$:$6)3#! =20$)&6*$2! &(! 0$K$.(-! &#/:! ;&6&$A$2&! #6:! -$)A/&&$0! =:! &(! /0$2&/+J! 3$)&6/2!

/::=$:!&#6&G!/2!&#$!3=))$2&!>=<?$3!3(2&$H&G!0(!2(&!6..('!6!3.$6)!-(:/&/(2E!!

What!is!the!duration!of!the!duty!to!return!research!results?!!

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A6&$)/6.!/20/K/0=6.!)$:=.&!()!6!A6&$)/6.!/23/0$2&6.!+/20/2D!3(=.0!3(A$!(=&!6+&$)!&#$!626.J:/:!

(+!&/::=$!3(..$3&$0!A62J!J$6):!?$+()$!620!:&()$0!/2! 6!?/(?62*E!"#$!K6./0/&J!(+!6!)$:=.&!A6J!

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)$:$6)3#!)$:=.&:!&(!-6)&/3/-62&:Eab!

"#$)$! 6)$! +$'! $H&62&! D=/0$./2$:! (2! &#/:! :=?I$3&E! "#$! "MB;! N! :-$3/+/$:!(2.J! &#6&! &#$!

0/K=.D$23$!(+!/23/0$2&6.!+/20/2D:!/:!:=?I$3&!&(!&#$!0=&J!(+!&#$!)$:$6)3#$)!&(!)$&=)2!)$:$6)3#!

)$:=.&:! &(! -6)&/3/-62&:Eaa!"#$! "MB;! N! #6:! 2(! 0/:-(:/&/(2! (2! &#$! 0=)6&/(2! (+! &#/:! 0=&JE! "#$!

Industry+ $+ Pharmacogenetics+ Working+ GroupG! 62! 6::(3/6&/(2! (+! -#6)A63$=&/36.! 3(A-62/$:!

$2D6D$0! /2! )$:$6)3#G! :&6&$:! &#6&! &#$)$! '(=.0! ?$! )$6:(2! &(! 60(-&! -)63&/36.! ./A/&:! &(!

3/)3=A:3)/?$! &#$! -$)/(0! (+! )$:$6)3#$)! ./6?/./&JEL\\! "#$! '()*/2D! D)(=-! (+! &#$! ,A$)/362!

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3622(&!-$):/:&!?$J(20!&#$!-$)/(0!(+!-)(I$3&EL\L!!

C2!>=<?$3G!&#$!6?:$23$!(+!/2:&)=3&/(2:!(2! &#$!0=)6&/(2!(+! &#$!0=&J!&(! )$&=)2!)$:=.&:!362!?$!

-)(?.$A6&/3! ?(&#!-)63&/36..J! 620!+/2623/6..JE! C2! &#/:! :$2:$G! (&#$)! :&=0/$:! 6)$! &(! ?$!

62&/3/-6&$0E!i2&/.!&#$2G!'$!)$3(AA$20!&#6&!&#$!)$:$6)3#$)!)$:-(2:/?/./&J!2(&!-$):/:&!?$J(20!

&#$!.$2D&#!(+!&#$!-)(I$3&! +=20/2DG!=2.$::!&#$)$!6)$!:-$3/6.!3/)3=A:&623$:!&(!I=:&/+J!6!.(2D$)!

-$)/(0! (+! )$:-(2:/?/./&J!5$EDE! '#$2! &#$! )$:$6)3#$)! )$A6/2:! 63&/K$! /2! 6! -)(I$3&!?$J(20!&#$!

+=20/2D!-$)/(08E!!

What!impact!will!return!of!results!have!on!the!healthcare!system?!!

"#$!)$&=)2!(+!)$:$6)3#!)$:=.&:!)/:*:!6!3(2:/0$)6?.$!/A-63&!(2!&#$!>=<?$3!#$6.&#36)$!:J:&$A!

?$36=:$e!!

• 1$2$&/3!620!D$2(A/3!)$:$6)3#!/:!62!/A-()&62&!-6)&!(+!#$6.&#!)$:$6)3#P!

• %$'!:$O=$23/2D!&((.:!6)$!=:$0!A()$!620!A()$!(+&$2P!620!

• "#$!"MB;!N!-=&:!+()'6)0!3(2:/0$)6?.$!0=&/$:!6:!&(!&#$!)$&=)2!(+!/23/0$2&6.!+/20/2D:G!

620! )$3(AA$20:! &#$! +=)2/:#/2D! (+! D$2$&/3! 3(=2:$../2D! :$)K/3$:! +()! &#$! )$&=)2! (+!

)$:$6)3#!)$:=.&:E!!

"""""""""""""""""""""""""""""""""""""""""""""""""""""""""""""

ab!Supra!2(&$!LU!6&!LLbE!

aa!"MB;!NG!supra!2(&$!L!6&!6)&!TEUE!

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j/($&#/3:!NUE!

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%Y`jC!f()*/2D!1)(=-F!5N\\W8!LU\eL\!,A!d!4$0!1$2$&/3:G!L\TTE!

39"

M(2:$O=$2&.JG! &#$! /A-63&! (+! &#$:$! 2$'! )$6./&/$:! (2! &#$! #$6.&#36)$! :J:&$A!2$$0! &(! ?$!

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6--)(-)/6&$!:=--()&!+()!)$:$6)3#!-6)&/3/-62&:!620!&#$/)!+6A/.JE!!

qqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqqq!

,3*2('.$0DA$2&:e!!

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0$K$.(-A$2&!(+! &#/:! Statement+ of+ Principles+ on+ the+ Communication+ of+ Research+ Results+ and+

Incidental+FindingsE!!

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Returning genetic research results in neurodevelopmental disorders: Report and review

Research

Full-text available

Feb 2017

This report originated from discussions at the Annual Brain Development Conference in late 2013 between researchers in the Neuroethics Core and Autism Spectrum Disorders Project of NeuroDevNet. Discussants felt that return of research results is a pertinent issue but that researchers are missing a comprehensive picture of the recommendations, approaches and empirical data related to the return of research results in genetics studies in children, in neurodevelopmental disorders, and specifically in autism. This report provides an overview of recent genetic studies of autism spectrum disorder (ASD), and reviews the ethical guidance (policies and peer-reviewed literature) and best practices on the return of individual research results in adult and pediatric genetic research. We focus on this case because of the wealth of genetic research being carried out in families and cohorts to explain the etiology of ASD and because there is a burgeoning literature on parental perspectives on the return of results in this case. The empirical perspectives are collected and summarized and provide context with regard to researcher and parent perspectives on the return of genetic results in ASD studies. We conclude by making recommendations about the return of both incidental and ASD-related findings and highlight issues that merit further discussion, including the role of the child or adolescent with developmental disability in decision-making, and the importance of risk communication. We believe that the report will be of use not only for those working in the area of ASD but more broadly in the field of pediatric genetic research and neurodevelopmental disorder research. For example, the publication of new evidence showing that genetic alterations play an important role in the etiology of cerebral palsy in some children means that genetic research may becoming increasingly common in other areas of the study of neurodevelopmental disorders.

Genomics in the Gulf Region and Islamic Ethics

Conference Paper

Full-text available

Nov 2016

In much the same way that genomic technologies are changing the landscape of biomedical research, the ethical issues these technologies generate are setting today’s agenda of ethics research. The distinct ethical issues concerning the management of incidental findings represent a serious challenge that has occupied the minds of Western bioethicists for a while, but has yet to capture due attention from specialists in the Muslim world. Incidental findings are generally defined as results that arise although they were not part of the original purpose of the research project or clinical test. Ethical management of these findings is not a simple matter, because while they can be lifesaving, they can also lead to harmful consequences for the individual and community at large, and at other times lack any clear significance. This study is an attempt to fill the current lacuna in Islamic literature by addressing some aspects of the ethical management of incidental findings from an Islamic perspective. The study is divided into three main chapters. The first chapter offers an overview of recent genomic initiatives in the Gulf region, with special reference to initiatives by two nations: Qatar and Saudi Arabia. After this first-hand information about these primary initiatives in the Gulf region, the second chapter broadens the scope by reviewing international deliberations on the ethical management of incidental findings. By including these two chapters, we want to emphasize that Islamic bioethics should be interdisciplinary in nature, and informed as well by deliberations and discussions beyond the Islamic tradition. We hope that this interdisciplinary character will become more evident and better integrated in follow-up studies. The third chapter is dedicated to the core purpose of this study, namely delineating Islamic bioethical discussions related to incidental findings. To make the study accessible for non-specialists in Islamic studies, introductory notes are included about the field of Islamic bioethics.

Genomics in the Gulf Region and Islamic Ethics: The Ethical Management of Incidental Findings, Ghaly et al (2016)

Conference Paper

Full-text available

Nov 2016

Mohammed Ghaly

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Article

Full-text available

Jun 2014
AM J HUM GENET

Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there are thousands of rare diseases for which causative mutations have yet to be identified. It is in this context that in 2010 a Canadian consortium was formed to rapidly identify mutations causing a wide spectrum of pediatric-onset rare diseases by using whole-exome sequencing. The FORGE (Finding of Rare Disease Genes) Canada Consortium brought together clinicians and scientists from 21 genetics centers and three science and technology innovation centers from across Canada. From nation-wide requests for proposals, 264 disorders were selected for study from the 371 submitted; disease-causing variants (including in 67 genes not previously associated with human disease; 41 of these have been genetically or functionally validated, and 26 are currently under study) were identified for 146 disorders over a 2-year period. Here, we present our experience with four strategies employed for gene discovery and discuss FORGE’s impact in a number of realms, from clinical diagnostics to the broadening of the phenotypic spectrum of many diseases to the biological insight gained into both disease states and normal human development. Lastly, on the basis of this experience, we discuss the way forward for rare-disease genetic discovery both in Canada and internationally.

Country Reports

Article

Dec 2019

Statement of Principles on the Return of Research Results and Incidental Findings in Paediatric Research: A Multi-site Consultative Process

Article

Full-text available

Nov 2015

This paper proposes a set of recommendations for the return of research results and incidental findings in paediatrics. The Network of Applied Genetic Medicine of Quebec spearheaded the initiative to develop the Statement of Principles on the Return of Research Results and Incidental Findings, which was the result of a consultation process with clinical and research experts in the field. To formulate the Statement of Principles, the authors (i) reviewed empirical and grey literature on the return of research results and incidental findings in Europe and Canada, (ii) conducted a qualitative study of stakeholder groups, (iii) developed, and (iv) validated the recommendations through consultations with the stakeholder groups. The Statement of Principles provides a useful disclosure tool for deciding when, and under what circumstances to return research results and incidental findings. It addresses the issue of return of results in genetic research generally, and has also specific principles for various research contexts, including paediatric research. It delineates ethical issues unique to paediatric research, and provides a framework to guide research ethics committees as well as the research community in addressing these issues.

Patients, business and the state - Translating health information into sustainable benefits. Policy brief for engagement practices in Canada, Finland, Iceland, Spain, UK and the US

Book

Full-text available

Jan 2015

This report reviews several interesting research results how to govern healthcare information. Especially it raises a question how to manage information derived from biobank research and genetic databases into globally sustainable and socially robust healthcare products and services. One focus of this study was to compare governance and engagement regimes in Canada, Finland, Iceland, Spain, UK and the US, as well as supranational actors, to manage the collections, storage, use and commercialization of healthcare and genetic data. It also explores the implications that new patient engagement strategies have for the creation and deployment of intangible assets and value creation within the Finnish innovation system. Moreover, the study identifies what are critical elements between the patients, business and the state. Especially what is the sustainability of value creation regimes that can be deployed by companies. This report was carried out by Aaro Tupasela, Karolina Snell and Jose A. Cañada in the University of Helsinki. Tekes wishes to thank the researchers for their thorough and systematic approach of biobanks. Tekes expresses its gratitude to steering group and all others that have contributed to the study.

Conference Report Reporting Genetic Results in Research Studies: Summary and Recommendations of an NHLBI Working Group

Article

May 2006

Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity.

!s!82;!Minister's+Regulation+under+the+Public+Health+Act

Public+health+act
Rsq ! C
S

Public+Health+Act,!RSQ!c!S_2.2,!s!82;!Minister's+Regulation+under+the+Public+Health+Act,!RRQ!c!S_2.2,!r!2,!ss!1,!2.! 11 !TCPS!2,!supra+note!1!at!art!5.1.!

of! the! parents! and! there! is! an! available! effective! intervention.! The! plan! for! managing! information!should!present!options!and!seek!the!parents'!preferences.! @BULLET Duty,to,act

Exceptionally

! Exceptionally,! results! concerning! the! future! adult! health! of! the! minor! could! be! communicated! to! parents! if! they! can! have! a! significant! impact! on! the! health! of! the! parents! and! there! is! an! available! effective! intervention.! The! plan! for! managing! information!should!present!options!and!seek!the!parents'!preferences.! @BULLET Duty,to,act, When!an!individual!result!or!incidental!finding!concerning!a!minor:! ! Meets!generally!accepted!criteria!of!scientific!and!clinical!validities;!! ! Carries!significant!health!implications!for!the!minor;!and! ! Has! an! evidence_based! method! of! prevention! or! treatment! that! should! be! initiated!during!childhood!or!adolescence;! researchers!should!act.!!

!according!to!procedures!established! by!the!REB.!! ! Researchers! may! return! the! results! to! parents! and! direct! them! toward! appropriate! resources.!If!the!researcher!does!not!have!

At! first,! researchers! should! consult! their! REB! to! obtain! its! agreement! to! return! the! result.! The! return! of! individual! results! and! incidental! findings! should! be! done! according! to! procedures! established! in! the! plan! for! managing! information,! or,! if! there! is! no! plan! (e.g.! research!begun!before!the!publication!of!the!TCPS!2),!according!to!procedures!established! by!the!REB.!! ! Researchers! may! return! the! results! to! parents! and! direct! them! toward! appropriate! resources.!If!the!researcher!does!not!have!the!necessary!professional!competence!to!return! the! result! to! the! participant,! then! appropriate! plans! should! be! in! place! for! timely! clinical! referral.!In!the!plan!for!managing!information,!researchers!may!also!delegate!of!the!return! of!individual!results!and!incidental!findings!to!a!designated!health!professional,!for!example,! a!doctor!designated!by!the!participant.!! ! At!the!time!of!return!of!individual!results!or!incidental!findings,!researchers!or!the!people!to! whom! this! responsibility! has! been! delegated! (e.g.! genetic! counsellor),! should! provide! parents!(and!the!minor!himself,!if!this!is!appropriate!to!the!minor's!age!and!maturity!level)! clear! explanations! of! the! interpretation! of! the! results! in! such! a! way! as! to! address! the! distress!that!the!results!may!cause.!Researchers!should!also!address!the!following!elements:!! ! @BULLET Possible!preventative!options!or!cures;! @BULLET The!limits!of!extant!clinical!services;! @BULLET The!results'!consequences!for!the!participant's!family;!and! @BULLET As!necessary,!the!accessibility!of!genetic!counselling!services.!!

! results! should! be! returned! to! his! parents! or! the! persons! acting! in! their! stead! (person! having! parental! authority)! The! Civil+ Code+of+Québec!anticipates!that!one!parent!can!give

When
Young

When! the! research! project! involves! young! children,! results! should! be! returned! to! his! parents! or! the! persons! acting! in! their! stead! (person! having! parental! authority).! The! Civil+ Code+of+Québec!anticipates!that!one!parent!can!give!the!other!the!mandate!to!represent!her! or!him!in!acts!relating!to!the!exercise!of!guardianship!and!that!this!mandate!is!presumed!to! apply!to!third!parties!in!good!faith. 97 !In!this!way,!return!of!results!can!be!returned!to!either! parent!or!to!both.!!

RMGA Statement of Principles on the Return of Research Results and Incidental Findings

Abstract

Recommendations

Marrow Failure

Canadian Health Instutes of Research

Genome Quebec - Policy Briefs

Advocacy

RMGA Statement of Principles on the Return of Research Results and Incidental Findings

Énoncé de principes du RMGA sur la communication des résultats de recherche et des découvertes fortu...

Énoncé de principes du RMGA sur la communication des résultats de recherche et des découvertes fortu...

Return of whole-genome sequencing results in paediatric research: a statement of the P(3)G internati...