IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
GENOME-WIDE ASSOCIATION STUDIES (GWAS) SUPPLEMENT
*Fill in header information.
Key:
(Text highlighted throughout supplement are hyperlinks to these types of information)
Investigator Help (includes background information and/or sample answers)
Federal Regulations
Seattle Children’s Policy
Type in text as appropriate (for text boxes, etc.)
Instructions:
 Fill out this form for new studies involving the proposed submission of genotype and
phenotype or other data (“dataset”) into Genome-Wide Association Studies (GWAS)
repositories, such as dbGaP, NDAR or any other repository that requires the Institutional
Official (IO) to certify samples for submission (i.e., governed by NIH GWAS Policy or
NDAR Policy). Researchers should check with funding agency if unsure whether such
NIH policies apply. This supplement would also apply for on-going or completed
projects that are now seeking certification for submission to these repositories.
 The responses on this form will allow the Institutional Review Board (IRB) to determine
whether the proposed submission will be permitted and whether any conditions or
restrictions will be imposed on the use of the data.
 Note: A consultation with a Human Subjects Protection Program (HSPP) analyst is
required for any study that represents a principal investigator’s (PI) first submission of a
GWAS study at Seattle Children’s. Please see the IRB Web site for more information
about consultations.
1. Definitions and Policy/Guidance Links
GWAS - A genome-wide association study is defined as any study of genetic variation across
the entire human genome that is designed to identify genetic associations with observable
traits (such as blood pressure or weight), or the presence or absence of a disease or
condition. Examples of GWAS studies include linkage analysis using single nucleotide
polymorphisms (SNPs) across the genome, exome sequencing, whole genome sequencing,
large scale candidate gene sequencing, etc.
Foundational Consent Form(s) - All approved versions of consent forms used to consent
participants whose data you want certified by the IRB. For example, if you have a 10 year study
that has 7 consent form versions that were used during the study history, you should submit all
versions of the consent forms that were used. If your study is new, then you would only need to
submit the versions for which you are seeking IRB approval.
Retrospective Consent Form - A foundational consent form that was already used to consent
all or a portion of research participants.
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IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
Prospective Consent Form - A foundational consent form that will be used at a future date to
consent research participants. This usually applies for new studies, but could also apply to an
older study that is adding either a new consent form or a consent form supplement for DNA
collection.
Investigator Help
2. GWAS Data Submission Certification
Federal Regulations
2.1. This is a PROSPECTIVE Study (dataset is not yet in existence).
Yes
No
2.2. This is a RETROSPECTIVE Study (dataset is in existence).
Yes
No
2.3. This is both a RETROSPECTIVE and PROSPECTIVE Study (part of dataset is in
existence and part is not yet in existence).
Yes
No
2.4. If the NIH GWAS policy is applicable, summarize here your plan to de-identify the
dataset to be submitted and describe how your plan is consistent with the NIH
GWAS Policy.
2.5 Please attach the following documents:
Relevant Foundational Consent Form(s) (all approved versions of consent forms used to
consent participants whose data you want certified)
Data Sharing Plan for the dataset, if applicable.
3. Consent Form Considerations
If you are creating consent forms for prospective data collection, the IRB will need to find
that the information provided to participants is consistent with the GWAS Points to
Consider Document.
Investigator Help
Please address the following for all approved consent form versions (both prospective
and retrospective) for which you are seeking certification.
Investigator Help
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IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
Scope
3.1. Please indicate whether the consent form allows, precludes, or is silent/does not
expressly preclude data sharing with regard to the below types of activity:
Activity
Genetic research or
analysis.
Future use and
broad sharing of the
participant’s coded
phenotype and
genotype data for
research.
Submission of the
participant’s coded
phenotype and
genotype data to a
government health
research database
for broad sharing to
qualified
investigators.
Allows
(identify where in the
consent)
Precludes
(identify where in the
consent)
Yes  Page #:
No
Yes  Page #:
No
Yes  Page #:
No
Yes  Page #:
No
Yes  Page #:
No
Yes  Page #:
No
Silent, or
does not
expressly
Preclude
3.2. For retrospective consent forms only:
3.2.1. If the consent form is either silent or does not expressly preclude any of the
activities listed above, do you plan to seek re-consent?
Yes  A copy of the consent for this purpose is attached.
No  Provide justification for the IRB about why re-consent will not be
sought. Please address the following points (for Waiver of Consent):
3.2.1.1. Why the posting of data from your research to the database involves
no more than minimal risk to the participants from whom the samples
were originally obtained.
3.2.1.2. Why the posting of data will not adversely affect the rights and welfare
of the participants from whom the samples were originally obtained.
3.2.1.3. Under what circumstances will participants be presented with relevant
information should it become available.
3.2.1.4. Why re-consenting the participants is not feasible/appropriate.
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IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
**All other sections below refer to both retrospective and prospective consent forms.
4. Restrictions
4.1. Are there restrictions on the types of subsequent research using the participant’s
phenotype and genotype data?
Yes  Explain.
No
Investigator Help
4.2. Are there restrictions on the location of such research?
Yes  Explain.
No
Investigator Help
4.3. Are there restrictions on duration of storage and use of human specimens and/or
phenotype and genotype data derived from such specimens?
Yes  Explain.
No
Investigator Help
4.4. Are there limitations on who can use the participant’s specimens and/or phenotype
and genotype data?
Yes  Explain.
No
Investigator Help
5. Potential Benefits
5.1. Does the consent form discuss the possibility that benefits may accrue broadly to
the public through the advancement of science and understanding of health and
disease?
Yes
No  Explain.
6. Risks
6.1. Please indicate whether the consent forms discuss any of the following risks
associated with genetic or genomic research:
6.1.1. Do the consent form(s) discuss risks of broad sharing of phenotype and
genotype data?
Yes
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IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
No
6.1.2. Do the consent form(s) discuss privacy risks of data sharing (e.g., the
possibility that the coded data may be released to members of the public,
insurers, employers, and law enforcement agencies)?
Yes
No
6.1.3. Do the consent form(s) discuss the risks of computer security breaches
relevant to maintaining data in an electronic format?
Yes
No
6.1.4. Do the consent form(s) discuss relevant risks to relatives or identifiable
populations or groups?
Yes
No
7. Return of Research Results
7.1. Does the consent form include a discussion of whether or not human specimens or
research results will be returned to participants?
Yes  Explain under what conditions and how this will occur.
No
8. Privacy and Confidentiality
8.1. Do the consent form(s) address how the confidentiality of individually identifiable
information about the participant will be protected?
Yes  Describe.
No
8.2. Describe the security and oversight provisions of the GWAS database if it is a
database other than dbGaP (and identify the database).
8.3. Is the description of confidentiality measures described in the consent form
consistent with the gate keeping and security measures of the GWAS database that
the data will be deposited into?
Yes
No  Describe.
9. Withdrawal of Consent
9.1 Do the consent form(s) address whether a participant can withdraw his/her
phenotype and genotype data from research use?
Yes  Explain.
No  Explain.
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IRB # (if known):
Study Title:
Principal Investigator:
Version Date:
9.2 Do the consent form(s) state that data cannot be withdrawn after it has been released
to other researchers?
Yes  Explain.
No  Explain.
10. Commercial Use
10.1. Do the consent form(s) allow for the commercial use of the participant’s phenotypic
and genotypic data?
Yes
No  Describe any restrictions.
Silent (Consent form is silent about commercial use)
11. Other
11.1. Is there any other information in the consent form(s) that is inconsistent with the
information provided about the NIH GWAS data repository and GWAS policies and
procedures?
Yes  Describe.
No
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