New York University Langone Medical Center/School of Medicine
Institutional Review Board
Continuing Education
Reviewing Genetic Research
April 2009
Definition of Genetic Research: Research that involves the study of inherited human traits. This type of
research is frequently divided into four (4) categories: (1) genetic research: research using human DNA
samples, genetic testing or genetic information; (2) genetic information: information about an individual
or the individual’s blood relatives obtained from a genetic test; (3) genetic test: a test for determining the
presence or absence of genetic characteristics; (4) genetic characteristic: a gene, chromosome or
alteration thereof that may be tested to determine the existence of or risk for acquiring a disease, disorder
or trait.
What Should I Consider When Reviewing Genetic Research?
Research involving genetic research must be reviewed to ensure the elements of 45 CFR 46.111 and 21
CFR 56.11 (if applicable) are satisfied.
Risks to Subjects are Minimized
 Consideration of psychosocial risks including privacy and confidentiality. The description of risks
must identify these types of risks and how these risks will be minimized.
 Examples of minimization of risks: de-identification of samples or results; not disclosing results to
subject or their representatives; limitation on the number of staff who have access to identifiable
results; not placing identifiable records such as signed consent documents or results in the medical
record; obtaining a certificate of confidentiality for identifiable results; avoiding storage of
specimens for future testing. Information should be included if genetic counseling will be necessary
and plan included on how this process is to be completed.
Reasonable Risk/Benefit Ratio
 Inclusion of a clear rationale from the Investigator to the scientific and social benefit of the
analyses to be performed. Outline of adequate protections against risks presented by the research.
Risks must be identified such as stigmatization, being provided with upsetting information and may
reveal information about family members that were otherwise unknown.
Selection of Subjects is Equitable
 Justification and description of importance of inclusion of the population being studied is included.
Informed Consent will be sought from each subject
 Consent document details specific descriptions of genetic components of the study and the risks of
the genetic analyses. Information included is in language appropriate to the age rang of the
subjects being recruited.
Adequate Provisions to Protect Privacy of patients and the Confidentiality of Data are included
 Description of all staff who may access identifiable subject data. Information on if results will be
provided to subjects or others. It is important to remember the implications to others besides the
subjects including relatives of the participant and the group the subject may be identified with such
as racial and/or ethnic.
 Certificate of Confidentiality should be requested when: socially sensitive conditions or traits are
studied; tests could have adverse consequences for the participant’s financial standing, insurability,
or employability should the results be disclosed outside the research team.
 De-identification of samples and data before the genetic testing or soon after can minimize risk to
subjects and help protect confidentiality.
Safeguarding Vulnerable Populations
 Specific justification is required to ensure inclusion is appropriate and not a burden on the population. All
appropriate elements of all sub-parts must be satisfied to ensure approval. Issues for discussion include, assent,
risk assessment and consent process procedures.
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