{"id":853,"date":"2018-05-22T11:26:08","date_gmt":"2018-05-22T11:26:08","guid":{"rendered":"https:\/\/az.research.umich.edu\/medschool\/document\/research-involving-genetic-genomic-andor-dna-collection-or-analysis\/"},"modified":"2026-04-07T11:00:29","modified_gmt":"2026-04-07T15:00:29","slug":"research-involving-genetic-genomic-andor-dna-collection-or-analysis","status":"publish","type":"document","link":"https:\/\/az.research.umich.edu\/medschool\/guidance\/research-involving-genetic-genomic-andor-dna-collection-or-analysis\/","title":{"rendered":"Research Involving Genetic, Genomic, and\/or DNA Collection or Analysis"},"template":"","categories":[24],"tags":[],"content-type":[41],"topic":[42,66,75,67],"update-type":[96,94],"class_list":["post-853","document","type-document","status-publish","hentry","category-institutional-review-boards-irbmed","content-type-guidance","topic-application-types","topic-investigator-study-team-responsibilities","topic-regulations-policies-federal-state-local","topic-subject-populations","update-type-research-staff","update-type-review-recommended"],"acf":{"use_legacy_editor":true,"updated_date":"2025-06-04 12:30:00","update_notice":false,"author":"IRBMED","summary":"This guidance document outlines IRB expectations for <strong>research involving genetic analysis<\/strong> which generates human genetic information through analysis of human biospecimens.\r\n<ul>\r\n \t<li>For this guidance, the relevant human genetic information includes heritable genotypes, mutations, chromosomal changes, gene expression, and epigenetics, whether based on DNA or RNA specimens.<\/li>\r\n \t<li>Genetic analysis may be the main goal of the study, an optional sub-study, or otherwise a part of the study. For instance, analysis of genomic DNA as a comparator to the non-heritable mutations in tumor DNA \u2013 a common practice \u2013 falls under this guidance.<\/li>\r\n \t<li>The scope of the analysis may be small (e.g. one SNP location) or vast (e.g. whole genome).<\/li>\r\n<\/ul>\r\nThis guidance does not apply to\r\n<ul>\r\n \t<li>Studies (and\/or IRB applications) involving analysis of non-human DNA, such as genotyping pathogens or \u201cmicrobiome\u201d bacteria or genotyping viruses obtained from human blood or fecal specimens.<\/li>\r\n \t<li>Studies (and\/or IRB applications) that are eligible for <a href=\"\/medschool\/guidance\/exempt-human-subjects-research\">exempt<\/a> and\/or Not Regulated (not human subject research) determination by IRBMED.<\/li>\r\n \t<li>Studies (and\/or IRB applications) that collect and analyze previously collected genetic data without collecting human biospecimens to generate new genetic data.<\/li>\r\n<\/ul>","button_links":null,"related_content":[781,730,741],"legacy_path":"research-involving-genetic-genomic-andor-dna-collection-or-analysis","legacy_node_id":413,"legacy_related_nids":"324, 259","legacy_content_section":[{"legacy_section_type":"heading","legacy_heading":"I. Additional Terms","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area","legacy_heading":"","legacy_subheading":"","legacy_section_text":"<ul>\r\n \t<li><strong><a href=\"https:\/\/www.genome.gov\/genetics-glossary\">Genomics<\/a><\/strong> refers to the study of the entire genome of an organism, where the genome is the entire set of genetic instructions found in a cell.<\/li>\r\n \t<li><strong><a href=\"https:\/\/osp.od.nih.gov\/scientific-sharing\/genomic-data-sharing-faqs\/\">Large-scale genomic data<\/a><\/strong> (a term from the 2014 NIH GDS Policy) includes genome-wide association studies (GWAS), single nucleotide polymorphisms (SNP) arrays, and genome sequence, transcriptomic, metagenomic, epigenomic, and gene expression data. Analyzing two or more genes can count as \u201clarge-scale genomic data\u201d if done in more than 1000 human subjects.<\/li>\r\n \t<li><strong><a href=\"https:\/\/www.genome.gov\/genetics-glossary\/Epigenetics\">Epigenetics<\/a> <\/strong>involves the study of changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism. Epigenetics refers to both heritable changes in gene activity and expression (in the progeny of cells or of individuals) and also stable, long-term alterations in the transcriptional potential of a cell that are not necessarily heritable.<\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"heading","legacy_heading":"II.\tProtocol\/Smartform considerations","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area","legacy_heading":"","legacy_subheading":"","legacy_section_text":"Among other regulatory and ethical considerations, the Protocol Document and related sections in the eResearch smartform should adequately describe plans for each of the following.","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"A.\tGenetic analysis per smartform","legacy_section_text":"<strong>eResearch smartform sections<\/strong>: <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/01-1.2-non-exempt-eR4.4.pdf\">01-1.2<\/a> or <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/07.pdf\">07<\/a>, <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section20.2017.07.10.pdf\">20<\/a>\r\n<ul>\r\n \t<li>Answer \u2018yes\u2019 to the \u2018trigger\u2019 question for genetic analysis at 7.1.1 or (for secondary use only studies) 01-1.2, question 1.2 for\u00a0<strong>any<\/strong> genetic analysis of\u00a0<strong>human<\/strong> biospecimens.<\/li>\r\n \t<li>A follow-up question asks for the type(s) of human genetic analysis expected. Section 20 is activated <b>only<\/b> for studies that include one or more of\r\n<ul>\r\n \t<li>Detecting clinically significant genetic variants or markers actionable for research participants and\/or their family members;<\/li>\r\n \t<li>Screening, eligibility, and\/or study intervention assignment based on genetic results;<\/li>\r\n \t<li>Results that may have cultural\/ historical significance (e.g. ancestry of population group).<\/li>\r\n<\/ul>\r\n<\/li>\r\n \t<li><strong>20.2<\/strong> and <strong>20.3<\/strong> \u2013 use key words so reviewers can quickly identify the type of genetic analysis, e.g. genomic, epigenetic, SNP.<\/li>\r\n \t<li><strong>20.4<\/strong> \u2013 see section <strong>II.B<\/strong> immediately below for additional considerations when data\/biospecimens are shared.<\/li>\r\n \t<li><strong>20.5<\/strong> \u2013 see section <strong>IV<\/strong> below for considerations in identifying what must be included in the consent document(s).<\/li>\r\n \t<li><strong>20.6<\/strong> and <strong>20.7<\/strong>\u00a0\u2013 see section <strong>II.C<\/strong> below for considerations in deciding when and whether to share results of genetic testing.<\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"B.\tBiospecimen and data storage\/sharing","legacy_section_text":"<strong>eResearch smartform sections<\/strong>: <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section11.2017.03.28.pdf\">11<\/a>, <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section18.2017.09.17.pdf\">18<\/a>, <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section24-Detail.2017.07.10.pdf\">24<\/a>; or linked <a href=\"\/medschool\/guidance\/repository-overview\">Repository (REP)<\/a> application\r\n<ol>\r\n \t<li>Confidentiality of biospecimens and data\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Stored specimens and data files should be coded and labeled without direct identifiers. The \u2018key\u2019 to the code should be stored in a secure manner.<\/li>\r\n \t<li>Refer to HRPP <a href=\"https:\/\/hrpp.umich.edu\/irb-health-sciences-and-behavioral-sciences-hsbs\/irb-application-process\/data-security-guidelines\/\">Data Security Guidelines<\/a> and ITS <a href=\"https:\/\/safecomputing.umich.edu\/\">Safe Computing<\/a> resources.<\/li>\r\n \t<li>eResearch application section 11 (and sub-sections) should reflect actual study team practices.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Determine if the <a href=\"https:\/\/sharing.nih.gov\/genomic-data-sharing-policy\/about-genomic-data-sharing\">NIH Genomic Data Sharing (GDS) Policy (2014)<\/a>\u00a0applies\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>The policy applies to <a href=\"https:\/\/sharing.nih.gov\/genomic-data-sharing-policy\/about-genomic-data-sharing\/does-gds-apply-to-my-research\">NIH-funded research generating large-scale genomic data<\/a>. \u201cLarge-scale\u201d depends both on number of genes sequenced and on number of human participants.\u00a0 Examples: Genome Wide Association Studies (GWAS), Single Nucleotide Polymorphism (SNP) arrays, genome sequences, expression data (e.g., transcriptomic, epigenomic, genetic)<\/li>\r\n \t<li>If the policy applies, preferably, <a href=\"\/medschool\/guidance\/nih-genomic-data-sharing-policy\">obtain Institutional Certification for GDS<\/a> as part of the initial eResearch application.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li><a href=\"https:\/\/medresearch.umich.edu\/office-research\/about-office-research\/our-units\/data-office-clinical-translational-research\/data-biospecimen-sharing\">Sharing outside the University<\/a> (to external collaborators on the study, or for future unrelated \u2018secondary use\u2019 studies) requires a <a href=\"https:\/\/orsp.umich.edu\/policies-procedures\/data-sharing-and-use-agreements\">Data Use Agreement<\/a>\/<a href=\"https:\/\/innovationpartnerships.umich.edu\/resources\/?t[]=mtas\">Materials Transfer Agreement<\/a> and may require a separate review.<\/li>\r\n \t<li>Re-use of data\/biospecimens for future separate studies\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li><a href=\"https:\/\/sharing.nih.gov\/data-management-and-sharing-policy\/about-data-management-and-sharing-policies\/data-management-and-sharing-policy-overview#after\">NIH Data Management and Sharing Policy<\/a> (published 2020, effective date 2023) <a href=\"https:\/\/www.federalregister.gov\/d\/2020-23674\/p-99\">expects<\/a> that \u201cresearchers will maximize the appropriate sharing of scientific data.\u201d<\/li>\r\n \t<li>Unless necessary for the new analysis, provide \u2018secondary use\u2019 investigators only deidentified and coded information without the \u2018key\u2019 to the code. This generally does not require a separate IRB application.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>When the study ends or the PI leaves the institution.\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>The University retains ownership of research biospecimens and derivatives, unless stipulated otherwise by the terms of specific research agreements for which the specimens were collected. (UMMS\u00a0<a href=\"https:\/\/michmed-medicalschool.policystat.com\/policy\/5508111\/latest\/\">Research Biorepositories Policy<\/a> \u2013 <em>level-2 login required<\/em>)<\/li>\r\n \t<li>Investigators preparing to leave the University should consult\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>UMMS <a href=\"https:\/\/umhealth.sharepoint.com\/sites\/MSA\/SitePages\/regulatory-affairs.aspx\">Regulatory Affairs<\/a> Office (<em>level-2 login required<\/em>)\u00a0\"Exit Checklist\" (<a href=\"https:\/\/umhealth.sharepoint.com\/sites\/MSA\/SitePages\/u-m-resources-researchers.aspx\">U-M Resources for Researchers<\/a> )<\/li>\r\n \t<li>Michigan Medicine <a href=\"https:\/\/umhealth.sharepoint.com\/sites\/Corporate-Compliance\">Corporate Compliance Office<\/a> (<em>level-2 login required<\/em>) Data Use and Sharing webpage<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Submit Amendments and\/or Terminations to the IRB for ongoing studies (HUM) or repositories (REP) from the PI, including\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>who takes on responsibility for any future contact with participants<\/li>\r\n \t<li>efforts to notify participants, if any<\/li>\r\n<\/ol>\r\n<\/li>\r\n<\/ol>\r\n<\/li>\r\n<\/ol>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"C.\tReturn of results to individual participants","legacy_section_text":"<ol>\r\n \t<li>Which of the following will be returned to participants?\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>General study results<\/li>\r\n \t<li>Individual study results<\/li>\r\n \t<li>Incidental findings<\/li>\r\n \t<li>Secondary findings<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>How quickly will results be returned? By whom? Can the return of results continue after the participant\u2019s involvement, or the study, ends?<\/li>\r\n \t<li>May participants \u201copt out\u201d of receiving certain kinds of findings?<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Explain the basis for returning (or not) each type of finding. Factors affecting the decision include:\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Whether individual research results are likely to be of clinical significance\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>Can the genetic tests be repeated by a commercial CLIA certified lab (i.e. can commercially available tests provide the same information)?<\/li>\r\n \t<li>Laboratories providing research findings for medical use (e.g., affected patients will be recommended for surgery, drug therapy or the research result will be used to guide other aspects of medical management) should be encouraged to obtain CLIA certification for the test.<\/li>\r\n \t<li><a href=\"\/medschool\/guidance\/investigational-vitro-diagnostics-ivds-utilized-clinical-investigations\">Diagnostic test devices<\/a> may be required to obtain an FDA IDE (contact <a href=\"https:\/\/michr.umich.edu\/offering\/resources-for-compliance-with-fda-regulations\/\">MICHR-MIAP<\/a> with questions).<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Potential psychological or emotional ramifications of learning the information\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>Who will provide any relevant genetic or other counseling (e.g. helping participants decide whether to seek additional testing) and who will cover the costs?<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Ethical considerations of allowing participants to opt out of receiving clinically significant, actionable, and lifesaving findings<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>If research findings are not routinely returned to participants, plan for the case of unanticipated information that could be medically compelling to the participant. Certain incidental and secondary findings are predictably associated with a particular modality or type of research, and researchers have a duty to anticipate such incidental findings\u2014whether common or rare\u2014to the extent possible.\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Submit an <a href=\"\/medschool\/guidance\/other-reportable-information-or-occurrence-orio\">ORIO<\/a> to IRBMED when any actual medically compelling case is discovered.<\/li>\r\n \t<li>Indicate who will evaluate the relevance of the information<\/li>\r\n<\/ol>\r\n<\/li>\r\n<\/ol>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"heading","legacy_heading":"III.\tParticipant Selection","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"A.\tInvolving family members of primary participants","legacy_section_text":"<strong>Related eResearch smartform sections<\/strong>: <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section10-1.2017.03.28.pdf\">10-1<\/a>, <a href=\"\/medschool\/wp-content\/uploads\/sites\/3\/2024\/12\/res_irbmed_eResearch.Application.Section10-2.2022.02.16.pdf\">10-2<\/a>\r\n<ol>\r\n \t<li>Informing other family members of the research\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Researchers should <strong>not <\/strong>request the names and contact information of relatives from primary participants, without their relatives\u2019 consent or knowledge.<\/li>\r\n \t<li>Primary participants may be asked to share information about the study to relatives who can then contact the study team if interested in participating or return a \u201cpermission to be contacted\u201d card.<\/li>\r\n \t<li>Researchers who request participants act as go-betweens between the study team and other family members should educate the participants on how to present study information and the contact process in a non-coercive manner.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Research contact with other family members\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Avoid enrolling or collecting specimens at family reunions or other family gatherings where privacy is compromised and time for education and informed discussion\/consent is limited. Regulations require that researchers <a class=\"gtip\" href=\"\/medschool\/glossary\/informed-consent\">seek informed consent<\/a> only under circumstances that allow the prospective participant sufficient opportunity to discuss and consider whether or not to participate, and that minimize the possibility of coercion or undue influence.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>The privacy of participants and families must be protected when information is published or publicly presented.\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Avoid publication or presentation of a pedigree that may easily identify a family with a rare disorder or uniquely structured family unit.<\/li>\r\n \t<li>Collect family history only as needed for study objectives. Additional identifiable information might pose harm or embarrassment to nonparticipating family members.<\/li>\r\n \t<li>Seek informed consent from the individual the information pertains to (i.e., the family member), unless appropriately waived by the IRB.<\/li>\r\n<\/ol>\r\n<\/li>\r\n<\/ol>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"B. Child participants","legacy_section_text":"It may not be appropriate to involve child participants in research on genetic diseases or conditions that present in adulthood or can be asymptomatic, because the child\u2019s best interest is to protect their future autonomy whether to receive information. On the other hand, if the research may reveal genetic propensities for conditions with known behavioral or environmental risk factors, this may be relevant to parents\u2019 decisions about the health care and well-being of the child participant, current or future other children in the family, or of the parents themselves. The relevance of the information depends also, though, on whether the research results are clinically verifiable.","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"heading","legacy_heading":"IV.\tInformed Consent considerations","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"A.\tContent","legacy_section_text":"Among other regulatory and ethical requirements, the consent document(s) should adequately describe the elements below that have special significance for genetic information. Template sentences\/paragraphs relating to most of these are\u00a0available in the IRBMED <a href=\"\/medschool\/templates\/standard-informed-consent-template\">Standard Informed Consent Template<\/a>.\r\n<ol>\r\n \t<li>Sharing of DNA sample or genetic information for future research. Participants can be invited to choose between different levels of access, but researchers should limit the number of choices to avoid participant confusion and later administrative complexity.\r\n<ol>\r\n \t<li>When a biobank or data repository is the main intent of the project, it is common to request upfront consent for any and all future re-use.<\/li>\r\n \t<li>When the genetic information is generated as part of a treatment study, more restrictive options may be appropriate. Participants enrolling in <a href=\"https:\/\/grants.nih.gov\/policy\/clinical-trials\/definition.htm\">clinical trials<\/a> that include collection\/storage of tissue or DNA samples for ancillary or future research purposes should have the option to withhold consent for that aspect, while still participating in the clinical research trial.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Plans for disclosure or purposeful non-disclosure of research results (<a href=\"https:\/\/ecfr.gov\/current\/title-45\/subtitle-A\/subchapter-A\/part-46#p-46.116(c)(8)\">45 CFR 46.116(c)(8)<\/a>)\r\n<ol>\r\n \t<li>When and how general or individual study results, incidental or secondary findings, and clinically significant individual results may returned, and the basis for this decision<\/li>\r\n \t<li>Sharing of information related to adult onset diseases if the participants are children<\/li>\r\n \t<li>Risks of learning the information (e.g. parentage issues, knowledge of a previously unknown condition)<\/li>\r\n \t<li>Whether participants may \u201copt out\u201d of receiving certain kinds of findings.<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>Risks (and mitigations thereof) particular to knowledge\/sharing of genetic information\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Genetic information may impact insurability or employability, or may cause other potential forms of discrimination (e.g. stigmatization). Researchers should consider, and should prompt the participants to consider, these risks and the mitigation of the risks, including in the case of unintentional or accidental release of research information.<\/li>\r\n \t<li><a href=\"http:\/\/ginahelp.org\/\">Genetic Information Non-Discrimination Act (GINA)<\/a> protects against misuse of an individual\u2019s genetic information (genetic tests of the individual or family members, and the manifestation of a disease or disorder in the individual's family members).\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>By GINA definition, \u201cgenetic test\u201d means <em>only <\/em>an analysis\r\n<ol>\r\n \t<li>of human DNA, RNA, chromosomes, proteins, or metabolites<\/li>\r\n \t<li>that detects genotypes, mutations, or chromosomal changes<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>GINA protections are <em>not <\/em>relevant to, and should <em>not <\/em>be in consent documents for, studies with genetic analyses related <em>only <\/em>to microbiome, gene expression, and epigenetics (i.e. <em>not <\/em>also generating results related to heritable variants).<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>A <a href=\"https:\/\/hrpp.umich.edu\/certificates-of-confidentiality\">federal Certificate of Confidentiality (CoC)<\/a> protects against forced disclosure of information from a research context.\r\n<ol style=\"list-style-type: lower-roman\" start=\"1\">\r\n \t<li>CoC is included as a term\/condition of grant for funding from NIH, CDC, SAMHSA, HRSA and FDA.<\/li>\r\n \t<li>Investigators are encouraged to obtain a CoC\u00a0from the NIH for non-NIH funded studies. <a href=\"https:\/\/grants.nih.gov\/policy-and-compliance\/policy-topics\/human-subjects\/coc\/for-research-not-funded-by-nih\">Researchers\u00a0may apply for an NIH CoC<\/a> if a primary focus of the research is within the NIH mission (i.e., health\/mental health-related). Individual level genomic data are generally considered sensitive data warranting CoC protection.\r\n<strong>NOTE<\/strong> - This option is temporarily unavailable in spring 2025.<\/li>\r\n<\/ol>\r\n<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>The extent to which primary participants\u2019 family members may be involved. (See heading \u2018Participant Selection\u2019 above.)<\/li>\r\n \t<li>The options for participant withdrawal from the study. Investigators should keep sufficient identifiers to accommodate participants\u2019 withdrawal of permission for further use of their data. Commonly, information\/biospecimens cannot be \u2018recalled\u2019 if shared with collaborators, but disposal of the data and any remaining specimens stored with the study team is possible.\u00a0 Any time limits for withdrawal must be specified in the consent.<\/li>\r\n \t<li>Costs associated with participation in the research for the participant or family, such as\r\n<ol style=\"list-style-type: lower-alpha\" start=\"1\">\r\n \t<li>Genetic or other counseling when results are returned<\/li>\r\n \t<li>Retesting by a commercial CLIA certified lab<\/li>\r\n<\/ol>\r\n<\/li>\r\n \t<li>As a best practice, the components specific to informed consent for genetic testing under Michigan law (<a href=\"http:\/\/legislature.mi.gov\/doc.aspx?mcl-333-17020\">MCL 333.17020<\/a> and <a href=\"http:\/\/legislature.mi.gov\/doc.aspx?mcl-333-17520\">333.17520<\/a>), outlined at <a href=\"https:\/\/hrpp.umich.edu\/resource\/operations-manual\/\">HRPP Operations Manual<\/a> Part 11.II.A.2.b. (This is a best practice, albeit the laws do not apply to procedures performed as a component of biomedical research subject to FDA and OHRP oversight).<\/li>\r\n<\/ol>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"B. Who provides consent","legacy_section_text":"If the study continues throughout the time when child participants may have reached the age of majority, the study must <a href=\"\/medschool\/guidance\/seeking-reconsent-research-participants\">seek reconsent<\/a> from the now-adult participants themselves. This includes ongoing use of data or biospecimens collected for a research <a href=\"\/medschool\/guidance\/repository-overview\">repository<\/a>.\r\n\r\nA legally authorized representative must consent to research participation on behalf of adults with cognitive impairment or otherwise impaired decision making (\u201cincapacitated individuals\u201d); and on behalf of children. <a href=\"https:\/\/hrpp.umich.edu\/resource\/operations-manual\/\">HRPP Operations Manual<\/a> Part 11.II.A.1 defines \u201cage of majority,\u201d \u201cincapacitated Individual,\u201d and individuals who can serve as legally authorized representative, with references to the <a href=\"http:\/\/legislature.mi.gov\/?page=chapterindex\">Michigan Code of Law<\/a>. See also IRBMED guidance <a href=\"\/medschool\/guidance\/who-may-consent-participation-research-studies-michigan\">Who May Consent for Participation in Research Studies (Michigan)<\/a>.","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"C. Imaging of consent into MiChart","legacy_section_text":"A complete (every page) copy of signed consent forms should be placed in the U-M medical record of participants (<a href=\"https:\/\/michmed-administration.policystat.com\/policy\/8719185\/latest\/\">Michigan Medicine Policy 01-04-310<\/a>, <em>level-2 login required<\/em>), particularly when the research intervention may affect other treatment or care (in most cases this means <a href=\"https:\/\/michmed.service-now.com\/sp?id=kb_article_view&amp;sysparm_article=KB0015636\">scanning the document into MiChart<\/a>\u00a0<em>(level-2 login required)<\/em>). However, doing so may not be appropriate in all cases (for example if identification of the participant might put them at risk of criminal prosecution or harm to reputation).","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"heading","legacy_heading":"V. Risk Assignment","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area","legacy_heading":"","legacy_subheading":"","legacy_section_text":"U-M IRBs are responsible for <a href=\"\/medschool\/guidance\/evaluating-risks-participants\">evaluating the risks<\/a> of a research study, weighing the <em>probability <\/em>of each risk coming to pass, and assessing the <em>magnitude <\/em>of harm that may result. Harm to research participants and their families based on genetic information can be both higher probability and higher magnitude than most other kinds of personally identifiable information, so genetic analysis studies may be considered to pose greater than minimal risk even when physical and\/or psychological risks are minimal.\r\n\r\n<a href=\"\/medschool\/guidance\/expedited-review\">Expedited review<\/a> is permitted for genetic research studies if the IRB application is otherwise eligible for expedited review. Genetic research alone is usually not a trigger for a convened board review. IRBMED no longer requires annual continuing review for these studies if the IRB application is otherwise eligible for No Continuing Review.","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"heading","legacy_heading":"VI.\tReferences","legacy_subheading":"","legacy_section_text":"","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"Informed Consent","legacy_section_text":"<ul>\r\n \t<li>IRBMED <a href=\"\/medschool\/templates\/standard-informed-consent-template\">Standard Informed Consent Template<\/a>, \u201cGenomic Data Sharing\u201d blue help sections<\/li>\r\n \t<li>IRBMED <a href=\"\/medschool\/templates\/specialty-informed-consent-templates\">Biorepository Informed Consent Template<\/a> and Informational Sheet<\/li>\r\n \t<li>National Human Genome Research Institute\r\n<ul>\r\n \t<li><strong><a href=\"https:\/\/www.genome.gov\/about-genomics\/policy-issues\/Informed-Consent-for-Genomics-Research\/Required-Elements-of-Consent-Form\">Required Elements of the Consent Form<\/a> (with sample language for each element)<\/strong><\/li>\r\n \t<li><a href=\"http:\/\/www.genome.gov\/informedconsent\/\">Informed Consent for Genomics Research Resource<\/a><\/li>\r\n \t<li><a href=\"https:\/\/www.genome.gov\/FAQ\/Clinical-Research\">Clinical Research FAQ\u00a0<\/a><\/li>\r\n<\/ul>\r\n<\/li>\r\n \t<li>\u00a0\u201cTailoring the process of informed consent in genetic and genomic research,\u201d Rotimi CM and Marshall PA, PMCID: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2873798\/\">PMC2873798<\/a><\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"Data\/Biospecimen Sharing","legacy_section_text":"<ul>\r\n \t<li>\u201cPrivacy and Progress in Whole Genome Sequencing\u201d (2012) at <a href=\"https:\/\/bioethicsarchive.georgetown.edu\/pcsbi\/index.html\">Presidential Commission on the Study of Bioethical Issues<\/a><\/li>\r\n \t<li>NIH Office of Science &amp; Policy <a href=\"https:\/\/sharing.nih.gov\/genomic-data-sharing-policy\/about-genomic-data-sharing\">Genomic Data Sharing<\/a><\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"Return of Results to Individual Participants","legacy_section_text":"<ul>\r\n \t<li>NHGRI <a href=\"https:\/\/www.genome.gov\/about-genomics\/policy-issues\/Human-Subjects-Research-in-Genomics\/Return-of-Research-Results\">Return of Research Results<\/a> guidance<\/li>\r\n \t<li>SACHRP Recommendations on <a href=\"https:\/\/www.hhs.gov\/ohrp\/sachrp-committee\/recommendations\/attachment-f-august-2-2017\/index.html\">Reporting Incidental Findings (2017)<\/a><\/li>\r\n \t<li>SACHRP Recommendations on <a href=\"https:\/\/www.hhs.gov\/ohrp\/sachrp-committee\/recommendations\/attachment-b-return-individual-research-results\/index.html\">Return of Individual Research Results (2019)<\/a><\/li>\r\n \t<li>\u201cAnticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts\u201d (2013) at <a href=\"https:\/\/bioethicsarchive.georgetown.edu\/pcsbi\/index.html\">Presidential Commission on the Study of Bioethical Issues<\/a><\/li>\r\n \t<li>Digest and Comment from Am J Epidemiol on \u201cAnticipate and Communicate\u201d PMID:\u00a0<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25150271\">25150271<\/a><\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null},{"legacy_section_type":"text_area_with_subheading","legacy_heading":"","legacy_subheading":"Family members of primary participants","legacy_section_text":"<ul>\r\n \t<li>\u201cDoes family always matter? Public genomes and their effect on relatives\u201d Bloss, CS 2013 PMCID: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3978598\/\">PMC3978598<\/a><\/li>\r\n \t<li>\u201cProtecting Third Parties in Human Subjects Research\u201d Resnick, DB and Sharp, RR. 2006 PMCID: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3951397\/\">PMC3951397<\/a><\/li>\r\n \t<li>\u201c<a href=\"https:\/\/deepblue.lib.umich.edu\/handle\/2027.42\/44922\">The Interface Between the Practice of Medical Genetics and Human Genetic Research: What Every Genetic Counselor Needs to Know<\/a>\u201d Yashar BM and Markel DS. 2004 PMID: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15604636\">15604636<\/a><\/li>\r\n \t<li>\u201cProtecting the Privacy of Family Members in Survey and Pedigree Research\u201d Botkin J. 2001 PMID: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/11176815\/\">11176815<\/a><\/li>\r\n<\/ul>","legacy_media_position":"","legacy_media_file":"","legacy_media_url":"","legacy_glossary_term":"","legacy_glossary_nids":"","legacy_resource":"","legacy_resource_nids":"","legacy_buttons":null}],"update_notice_type":[94,96],"update_notice_start":"2025-06-04 12:30:00","update_notice_end":"2025-08-04 17:00:00","update_notice_text_blocks":[{"update_notice_text":"Section II.A of this page has been updated to include guidance on the <a href=\"https:\/\/its.umich.edu\/academics-research\/research\/eresearch\/regulatory-management\/release-notes\/1232156\">new eResearch smartform<\/a> question 7.1.1.1."}],"global_contact_block":false,"contact_name":"","contact_email":"","contact_additional_info":"Contact us at <a href=\"mailto:irbmed@umich.edu?subject=Genetic%2FGenomic%20research&amp;body=Question%20from%20Research%20A-Z%3A\">irbmed@umich.edu<\/a> or 734-763-4768 \/ (Fax 734-763-1234)\r\n\r\n2800 Plymouth Road, Ann Arbor, MI 48109-2800\r\n\r\nA <a href=\"https:\/\/medresearch.umich.edu\/office-research\/about-office-research\/our-units\/institutional-review-boards-irbmed\/irbmed-contacts-roster#irbmed-staff\">list of IRBMED staff<\/a> is available at our website.\r\n\r\nEdited By: <a href=\"mailto:larkspur@umich.edu\">larkspur@umich.edu<\/a>\r\nLast Updated: April 7, 2026 11:00AM","global_contact_block_select":null},"_links":{"self":[{"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/853","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document"}],"about":[{"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/types\/document"}],"version-history":[{"count":4,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/853\/revisions"}],"predecessor-version":[{"id":1944,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/853\/revisions\/1944"}],"acf:term":[{"embeddable":true,"taxonomy":"update-type","href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/update-type\/96"},{"embeddable":true,"taxonomy":"update-type","href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/update-type\/94"}],"acf:post":[{"embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/741"},{"embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/730"},{"embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/document\/781"}],"wp:attachment":[{"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/media?parent=853"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/categories?post=853"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/tags?post=853"},{"taxonomy":"content-type","embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/content-type?post=853"},{"taxonomy":"topic","embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/topic?post=853"},{"taxonomy":"update-type","embeddable":true,"href":"https:\/\/az.research.umich.edu\/medschool\/wp-json\/wp\/v2\/update-type?post=853"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}