LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ


Ƭͳͳ

ǡͶͷ͵
ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|1 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWES v1.2(8/31/2023)
Informed
Consent–ColumbiaWholeGenomeorWholeExomeSequencing


Ǥ
Thisconsentisintendedforthecomprehensivesequencin gofmalignant(“cancerous”)andnonǦmalignanttumorsand
diseasesofthebloodcells. Ifthisconsentformisusedforapediatricpatient,theword“you”alsoreferstoyourchild.
Description
ofthe
ComprehensiveSequencing
Tests
ȋȌȋȌ ǯ
         Ǥ      ǯ 
ǤǯǤǡǡ
Ǥǡ
ǡǡǤ 
ǤȀǤ ǡ
ǡǤȀ
ǡ   Ǥ Ȁ
Ǥ      
Ǥǡ  DzdzǤ
Dzǡdzǡ


Ǥ
ReasonsforTesting
ǤȀ Ǥǡ



Ǥ
Testing
ǡȋȌǤ
ǡȀǡ
Ǥ ǡȀ
ǡǤ
TestInterpretation
Ȁǡ
Ǥǡ ǡ 
Ǥ 

ǡǣ
Ǥ

Ǥ Ǥ
ǡDzǡdzǤǤ
Ǥ 
Ǥ
ResultReporting
Ǥ 
Ǥ
ͳǤ 
Ǧ
ȋȌǣ
Ǥ 
Ǥ
ʹǤ  ǦȋȌǣ    
Ǥ ǡ




Ǥ
Ǥ
LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ


Ƭͳͳ

ǡͶͷ͵
ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|2 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWES v1.2(8/31/2023)
͵Ǥ    ǣ         ǡ   
Ǥ Ǥ
Dz
dz

Ǥ
ͶǤ DzdzǣǤ 
        Ǥ


Ǥ
Secondary
Finding s
Ǥ 
ǡ  Ǥ 
Ǥ 
ȋȌ
ȀǤǡ
ǡǤ ǡ

Ǥ
 Ǥ
Ǥ 




Ǥ
ResultsThatWillNotBeReported
Ǥ
ͳǤ 

ǡǤ Ǥ 
ǯǡ
Ǥ
ʹǤ ǡ
  ǯǤ ǡ          
ǡ   ǡ  Ǥ   
 ǯ ǡ   
Ǥ
͵Ǥ 
ǡ Ǥ
DzdzǤ Ǥ 
     ǡ       


Ǥ
PotentialRis k s andDiscomfort
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PrivacyProtections
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Ǥ ǯ
LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ
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ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|3 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWES v1.2(8/31/2023)
ǡȋȌ
   Ǥ ǡǦ
    ȋȌǤ          
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ǡ    ǡ  ǡ ǡ  ǡ    Ǥ
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    Ǥ         ǡ
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ǡDzǦǦdzǤ 
ǡ  ǡ ǡ  
ȋȌǡ


Ǥ
OptionsforClinicalSequencing
ȀǤͳȌ
  ǡʹȌ     

ǡ͵ȌǡͶȌǤ
ǡǤ
DzdzDzdzǤ Ǥ
1) Secondary
Findings:
Ido
IdoNOT
______
____ȋȌ
______
____ȋȌ


ǡ
Ǥ
2) ElectronicMedicalRecords(EMRs):
             ͳǤ       
ǡǤ
Ido
IdoNO
T
______
____ȋȌ
__________ȋȌ
ȀǦ

ȋȌ
 Ǥ      Ȁ 
ǡ
ǤȀ
ǯǤ
ǡǡ 
 Ǥ     

ȀǤ
3) SampleStorage:
Ȁ
Ǥ       ǡǡ          
Ǥ
Ido
IdoNOT
__________ȋȌ
______
____ȋȌ


Ǥ
LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ


Ƭͳͳ

ǡͶͷ͵
ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|4 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWESv1.2 (8/31/2023)
4) FutureContactforClinicalPurposes:


ǣ
Ido
IdoNO
T
__________ȋ
Ȍ
__________ȋȌ


Ǥ
LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ


Ƭͳͳ

ǡͶͷ͵
ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|5 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWES v1.2(8/31/2023)
Research
Ǥ 
Ǥ
Ǥ 
ǡ
Ǥ Ǥ ǡ
      Ȁǡ       
Ǥǡ 
Ǥ
Sampl es:Ǥ  
Ǥ Ǧ
ǡ
5) Ido
IdoNOT
__________ȋȌ
__________ȋȌ


Ǥ
Sequencingdata:ȀǤ ǡ
         ǦǤ 
ǡȀǤ 
Ǥ  
  Ǥǡ   Ǧǡ 
          ǡ        
ǤǤ 
ǡ            ǡ     
Ǥ ǡǤ 
Ǥ
6) Ido
IdoNOT
__________ȋȌ
__________ȋȌ
Ȁ

Ǥ
7) (Pleaseansweronlyifyouhavechosen“Ido”aboveforquestion6).
Ido
IdoNOT
__________ȋȌ
__________ȋȌ
Ȁ

Ǥ
8) FutureContactfor
Research
Purposesǣ
Ido
IdoNO
T
__________ȋ
Ȍ
__________ȋ
Ȍ




Ǥ
LaboratoryofPersonalizedGenomicMedicine
DepartmentofPathologyandCellBiology
͸͵Ͳ  ͳ͸ͺ


Ƭͳͳ

ǡͶͷ͵
ǡͳͲͲ͵ʹ
ǣʹͳʹǦ͵ͲͷǦͻ͹Ͳ͸
ǣʹͳʹǦ͵ͶʹǦͲͶʹͲ
Page|6 
ǣȀȀǤǤȀȀȀ̷ǤǤ
CWESv1.2 (8/31/2023)
Costs

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ǡȀ
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        Ǥ     Ǧ
   Ǥ
Ǥ Ǥ


ǡ

Ǥ
Statement
ofConsent
          Ȁǡ   ǡ ǡ ǡ  
  Ǥ      Ǥ       ǡ  
Ǥ Ǥ 
ȋȌǤ
Ǥ
Signatures:
WGS/WESTestingParticip ant
PrintName:
_____________________________________________
Signature:
________________________________________________
Dat e:
_________________
Parent/Guardian
of
WGS/WES
Testing
Participant
(if
participant
<18ye arsold)
PrintName:
_____________________________________________
Signature:
________________________________________________
Dat e:
_________________
Person
Obtaining
Consent
PrintName:
_____________________________________________
Signature:
________________________________________________
Dat e:
_________________
ACMGSecondaryFindingsGeneListv3.2
Gene
GeneMIM Disease/Phentyope DisorderMIM PhenotypeCategory Inheritance SFListVersion Variantstoreport
A
CTA2 102620 Familialthoracicaorticaneurysm 611788 Cardiovascular AD 1.0 AllPandLP
A
CTC1 102540 Hypertrophiccardiomyopathy 612098 Cardiovascular AD 1.0 AllPandLP
A
CVRL1 601284 Hereditaryhemorrhagictelangiectasia 600376 Miscellaneous AD 3.0 AllPandLP
PC 611731 Familialadenomatouspolyposis 175100 Cancer AD 1.0 AllPandLP
A
POB 107730 Familialhypercholesterolemia 144010 Cardiovascular AD 1.0 AllPandLP
A
TP7B 606882 Wilsondisease 277900 Miscellaneous AR 2.0 PandLP(2variants)
Dilatedcardiomyopathy 613881 Cardiovascular AD 3.1 AllPandLP
Myofibrillarmyopathy 612954 Cardiovascular AD 3.1 AllPandLP
BMPR1A 601299 Juvenilepolyposissyndrome 174900 Cancer AD 1.0 AllPandLP
BRCA1 113705 Hereditarybreastandovariancancer 604370 Cancer AD 1.0 AllPandLP
BRCA2 600185 Hereditarybreastandovariancancer 612555 Cancer AD 1.0 AllPandLP
BTD 609019 Biotinidasedeficienc
y
253260 Metabolic AR 3.0 PandLP(2variants)
CACNA1S 114208 Malignanthyperthermia 601887 Miscellaneous AD 1.0 AllPandLP
Long‐QTsyndrometype14 616247 Cardiovascular AD 3.2 AllPandLP
Catecholaminergicpolymorphicventriculartachycardia 614916 Cardiovascular AD 3.2 AllPandLP
Long‐QTsyndrometype15 616249 Cardiovascular AD 3.2 AllPandLP
Catecholaminergicpolymorphicventriculartachycardia 616249 Cardiovascular AD 3.2 AllPandLP
Long‐QTsyndrometype16 618782 Cardiovascular AD 3.2 AllPandLP
Catecholaminergicpolymorphicventriculartachycardia 618782 Cardiovascular AD 3.2 AllPandLP
CASQ2 114251 Catecholaminergicpolymorphicventriculartachycardia 611938 Cardiovascular AR 3.0 PandLP(2variants)
COL3A1 120180 Ehlers‐Danlossyndrome,vasculartype 130050 Cardiovascular AD 1.0 AllPandLP
Dliatedcardiomyopathy 604765 Cardiovascular AD 3.1 AllPandLP
Myofibrillarmyopathy 601419 Cardiovascular AD 3.1 AllPandLP
DSC2 125645 Arrhythmogenicrightventricularcardiomyopathy 610476 Cardiovascular AD 1.0 AllPandLP
DSG2 125671 Arrhythmogenicrightventricularcardiomyopathy 610193 Cardiovascular AD 1.0 AllPandLP
Arrhythmogenicrightventricularcardiomyopathy 607450 Cardiovascular AD 1.0 AllPandLP
Dilatedcardiomyopathy 615821 Cardiovascular AD 1.0 AllPandLP
EN
G
131195 Hereditaryhemorrhagictelangiectasia 187300 Miscellaneous AD 3.0 AllPandLP
FBN1 134797 Marfansyndrome 154700 Cardiovascular AD 1.0 AllPandLP
Dilatedcardiomyopathy n/a Cardiovascular AD 3.0 AllPandLP
Hypertrophiccardiomyopathy 617047 Cardiovascular AD 3.0 AllPandLP
Myofibrillarmyopathy 609524 Cardiovascular AD 3.0 AllPandLP
GAA 606800 Pompedisease 232300 Metabolic AR 3.0 PandLP(2variants)
GLA 300644 Fabrydisease 301500
Cardiovascular
Metabolic
XL 1.0 Allhemi,het,homozygousPandLP
HFE 613609 Hereditaryhemochromatosis(c.845G>A;p.C282Yhomozygotesonly) 235200 Miscellaneous AR 3.0 p.C282Yhomozygotesonly
HNF1A 142410 Maturity‐OnsetofDiabetesoftheYoung 600496 Miscellaneous AD 3.0 AllPandLP
KCNH2 152427 Long‐QTsyndrometype2 613688 Cardiovascular AD 1.0 AllPandLP
KCNQ1 607542 Long‐QTsyndrometype1 192500 Cardiovascular AD 1.0 AllPandLP
LDLR 606945 Familialhypercholesterolemia 143890 Cardiovascular AD 1.0 AllPandLP
LMNA 150330 Dilatedcardiomyopathy 115200 Cardiovascular AD 1.0 AllPandLP
MAX 154950 Hereditaryparaganglioma‐pheochromocytomasyndrome 171300 Cancer AD 3.0 AllPandLP
MEN1 613733 Multipleendocrineneoplasiatype1 131100 Cancer AD 1.0 AllPandLP
MLH1 120436 Lynchsyndrome 609310 Cancer AD 1.0 AllPandLP
MSH2 609309 Lynchsyndrome 120435 Cancer AD 1.0 AllPandLP
MSH
6
600678 Lynchsyndrome 614350 Cancer AD 1.0 AllPandLP
MUTY
H
604933
MUTY
H
‐associatedpolyposis
608456 Cancer AR 1.0 PandLP(2variants)
MYBPC3 600958 Hypertrophiccardiomyopathy 115197 Cardiovascular AD 1.0 AllPandLP
MYH11 160745 Familialthoracicaorticaneurysm 132900 Cardiovascular AD 1.0 AllPandLP
Hypertrophiccardiomyopathy 192600 Cardiovascular AD 1.0 AllPandLP
Dilatedcardiomyopathy 613426 Cardiovascular AD 1.0 AllPandLP
MYL2 160781 Hypertrophiccardiomyopathy 608758 Cardiovascular AD 1.0 AllPandLP
MYL3 160790 Hypertrophiccardiomyopathy 608751 Cardiovascular AD 1.0 AllPandLP
NF2 607379
NF2 ‐relatedschwannomatosis
101000 Cancer AD 1.0 AllPandLP
OTC 300461 Ornithinetranscarbamylasedeficiency 311250 Metabolic XL 2.0 Allhemi,het,homozygousPandLP
PALB2 610355 Hereditarybreastcancer 114480 Cancer AD 3.0 AllPandLP
PCSK9 607786 Familialhypercholesterolemia 603776 Cardiovascular AD 1.0 AllPandLP
PKP2 602861 Arrhythmogenicrightventricularcardiomyopathy 609040 Cardiovascular AD 1.0 AllPandLP
PMS2 600259 Lynchsyndrome 614337 Cancer AD 1.0 AllPandLP
PRKAG2 602743
Hypertrophiccardiomyopathy 600858
Cardiovascular
Metabolic
AD 1.0 AllPandLP
PTEN 601728
PTEN hamartomatumorsyndrome
158350 Cancer AD 1.0 AllPandLP
RB1 614041 Retinoblastoma 180200 Cancer AD 1.0 AllPandLP
RBM2
0
613171 Dliatedcardiomyopathy 613172 Cardiovascular AD 3.1 AllPandLP
Familialmedullarythyroidcancer 155240 Cancer AD 1.0 AllPandLP
Multipleendocrineneoplasiatype2A 171400 Cancer AD 1.0 AllPandLP
Multipleendocrineneoplasiatype2B 162300 Cancer AD 1.0 AllPandLP
RPE65 180069
RPE65 ‐relatedretinopathy
204100,
613794
Miscellaneous AR 3.0 PandLP(2variants)
RYR1 180901 Malignanthyperthermia
145600
Miscellaneous AD 1.0 AllPandLP
RYR2 180902 Catecholaminergicpolymorphicventriculartachycardia 604772 Cardiovascular AD 1.0 AllPandLP
LongQTsyndrometype3 603830 Cardiovascular AD 1.0 AllPandLP
Brugadasyndrome 601144 Cardiovascular AD 1.0 AllPandLP
Dilatedcardiomyopathy 601154 Cardiovascular AD 1.0 AllPandLP
SDHAF2 613019 Hereditaryparaganglioma‐pheochromocytomasyndrome 601650 Cancer AD 1.0 AllPandLP
SDHB 185470 Hereditaryparaganglioma‐pheochromocytomasyndrome
115310,
171300
Cancer AD 1.0 AllPandLP
SDHC 602413 Hereditaryparaganglioma‐pheochromocytomasyndrome 605373 Cancer AD 1.0 AllPandLP
SDHD 602690 Hereditaryparaganglioma‐pheochromocytomasyndrome
168000,
171300
Cancer AD 1.0 AllPandLP
SMAD3 603109 Loeys‐Dietzsyndrome 613795 Cardiovascular AD 1.0 AllPandLP
Juvenilepolyposissyndrome 174900 Cancer AD 1.0 AllPandLP
Hereditaryhemorrhagictelangiectasia 175050 Miscellaneous AD 1.0 AllPandLP
STK11 602216 Peutz‐Jegherssyndrome 175200 Cancer AD 1.0 AllPandLP
TGFBR1 190181 Loeys‐Dietzsyndrome 609192 Cardiovascular AD 1.0 AllPandLP
TGFBR2 190182 Loeys‐Dietzsyndrome 610168 Cardiovascular AD 1.0 AllPandLP
TMEM127 613403 Hereditaryparaganglioma‐pheochromocytomasyndrome 171300 Cancer AD 3.0 AllPandLP
TMEM43 612048 Arrhythmogenicrightventricularcardiomyopathy 604400 Cardiovascular AD 1.0 AllPandLP
TNNC1 191040 Dilatedcardiomyopathy 611879 Cardiovascular AD 3.1 AllPandLP
TNNI3 191044 Hypertrophiccardiomyopathy 613690 Cardiovascular AD 1.0 AllPandLP
Dilatedcardiomyopathy 601494 Cardiovascular AD 1.0 AllPandLP
Hypertrophiccardiomyopathy 115195 Cardiovascular AD 1.0 AllPandLP
125647
FLNC 102565
MYH7 160760
RET 164761
CurrentListofgenesforreportingofSecondaryVariants(v3.2,Milleretal.,2023https://doi.org/10.1016/j.gim.2023.100866)
BAG3 603883
CALM1 114180
CALM2 114182
CALM3 114183
DES 125660
DSP
SCN5A 600163
SMAD4 600993
TNNT2 191045
ACMGSecondaryFindingsGeneListv3.2
Gene
GeneMIM Disease/Phentyope DisorderMIM PhenotypeCategory Inheritance SFListVersion Variantstoreport
CurrentListofgenesforreportingofSecondaryVariants(v3.2,Milleretal.,2023https://doi.org/10.1016/j.gim.2023.100866)
TP53 191170 Li‐Fraumenisyndrome 151623 Cancer AD 1.0 AllPandLP
TPM1 191010 Hypertrophiccardiomyopathy 115196 Cardiovascular AD 1.0 AllPandLP
Catecholaminergicpolymorphicventriculartachycardia 615441 Cardiovascular AR 3.0 AllPandLP
LongQTsyndrome n/a Cardiovascular AR 3.0 AllPandLP
TSC1 605284 Tuberoussclerosiscomplex 191100 Cancer AD 1.0 AllPandLP
TSC2 191092 Tuberoussclerosiscomplex 613254 Cancer AD 1.0 AllPandLP
TTN 188840 Dilatedcardiomyopathy(truncatingvariantsonly) 604145 Cardiovascular AD 3.0 PandLP(truncatingvariantsonly)
TTR 176300 Hereditarytransthyretin‐relatedamyloidosis 105210 Miscellaneous AD 3.1 AllPandLP
VHL 608537 VonHippel‐Lindausyndrome 193300 Cancer AD 1.0 AllPandLP
WT1 607102
WT1 ‐relatedWilmstumor
194070 Cancer AD 1.0 AllPandLP
TRDN 603283