A genetic test is defined in the NYS Civil Rights Law as "any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or individual's offspring; such term shall also include DNA profile analysis."
This law has been interpreted to include research that seeks to develop or identify a genetic test. The nature of genetics research, its methods, purposes, risks and benefits, and population studied determines the extent to which regulatory and consent requirements are applied.
We require that information about genetic testing to be included in the protocol summary form (PSF) and consent form (CF) of all studies in which DNA is to be collected. We require the same information regardless of whether the DNA study is the main study, a sub-study, or an add-on study.
In addition to the confidentiality protections described in this CF, a Federal law called the Genetic Information Nondiscrimination Act (GINA) generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information. GINA does not protect you against genetic discrimination by companies that sell life insurance, disability insurance, or long-term care insurance or by adoption agencies. GINA also does not protect you against discrimination based on an already diagnosed genetic condition or disease. If you would like to know more about it you can discuss this with the principal investigator of this study or you can go to the following website www.genome.gov/10002328
DNA and the PSF
- General Information
As with all other studies, we require you to include the study title; protocol number; Principal Investigator's (PI) name, title and department; sponsor; and other investigator names. Also include who is authorized to perform consent procedures and their training and qualification to discuss DNA studies.
- Lay Summary
This summary should outline the structure of the study without using medical or scientific jargon. Summarize the reason for undertaking the study, its objectives, methods and the subject population(s). Please do not use an abstract from a grant, as these are usually too technical for non-scientific members of the IRB who want to read, understand, and approve your protocol.
Provide a brief background and study rationale statement including review of any previous research in the field to justify the work.
- Hypothesis/Specific Aims
1.Identify and explain the question(s) this study involves and how this research will address them
2.If there are no specific questions, describe the goals of the study
- Number of Completers
Indicate the number of participants expected to finish the study.
- Number Recruited
Tell us how many participants are to be enrolled in the study. This number is probably close to the number of completers in genetics studies, as there is only one collection time point.
- Gender/Ethnic/Racial Composition
List participant's sex, ethnicity, age range, diagnostic groups and other relevant characteristics. Include whether members of vulnerable populations (children, pregnant women, fetuses, prisoners, terminally ill, economically or socially disadvantaged) will be included. If any decisionally impaired people are to be included, please refer to our guidance on surrogate procedures.
- Gender/Ethnic/Racial Rationale
If a particular gender/ethnic/racial group is to be over- or under-represented in your study, please justify the study's composition.
- Inclusion and Exclusion Criteria
Indicate and explain the basis for subject eligibility.
- Recruitment Procedures
Detail the methods you will use to identify prospective subjects, and how, where, and by whom they will be contacted, informed about the study, or otherwise approached or recruited for participation.
- Consent/Assent Procedures
1.Describe informed consent procedures for study.
2.If the participant is decisionally impaired, refer to the guidance on surrogate procedures.
3.Assent should always be sought and respected regarding the participation of minors. See informed consent guidance on this topic.
4.Informed consent is an ongoing process, usually beginning with the signing of a written informed consent document, and continuing throughout the study by conversations between the investigator and the study participant.
- Alteration/Waiver of Consent (also Waiver of Documentation of Consent)
If seeking a waiver of consent or a waiver of documentation of consent, the request must be justified according to the specific guidance on these topics.
- Study Procedures
This section should describe everything that takes place during the course of the study.
- Collection of DNA Sample
Explain collection procedures (blood, buccal smear, pathological specimen, etc.). If blood draw, include amount of blood to be drawn and indicate stick site. For research involving blood draws from children, please note that EMLA cream should be used.
1. Coding: How will the samples be coded?
2. Transportation: Will the samples need to travel between different locations? If so, how will they be transported?
3. Storage: How and where will samples be stored?
4. Explain what will happen to the samples (DNA extracted only, cell lines created, stem cells isolated)
5. Location of analysis of sample: where will the analysis of samples take place?
6. If permission is sought to archive DNA or to create cell lines for future use, you will also need to specify any restriction on use (limited to mental health research,pharmacogenetics, genetics, etc.)
7. Indicate how long DNA/cell line will be maintained, tested, and/or stored.
8. Indicate what clinical data will be collected (individual, family history, psychiatric, medical) and indicate nature of identifiable data (example: numerical coding system)
9. Identifiable links: Indicate where identifiable links (example: key to code) will be located and how they will be handled (consider: perhaps no identifying information leaves the Principal Investigator)
- Shared Use
Is sharing limited to the PI, does it include commercial investigators, or investigators elsewhere?
1. Indicate who will have access to the samples
2. Indicate who will have access to identifiable information
3. Indicate who will have access to clinical information
- Intended Use of Samples
1. Indicate if uses are current and planned, or unspecified. Current and planned uses would be, for example, if you were going to search for genetic associations for a specific disorder or group of disorders in the course of this present study. Unspecified uses would be, for example, if you wish to request permission to reanalyze the sample for other disorders or purposes to be determined in the future or as part of this study.
2. If future use is involved, indicate whether it is restricted or unlimited (restricted to use only for this study, restricted to use by this investigator's group, restricted to use only for research on a particular disorder or class of disorders, or unlimited future use include potential uses on consent form, especially for research using stem cells).
3. Academic or commercial uses. Make clear who owns the sample and the rights to products developed from it.
- Feedback to Participants
What feedback, if any, will be provided to participants? Please see the separate guidance on this topic on our website.
1. Most genetics studies will not provide feedback, as they are exploratory and not diagnostic in nature
2. If diagnostic feedback is tentatively or definitely planned now or in the future, researchers must provide counseling (possibly provided through primary care physician or genetic counselor). Include counseling procedures in this protocol summary.
- Retrieval of Samples
Specify procedures that will permit the subject to retrieve specimens (in studies which access and destroy, indicate what access subjects will have to samples).
1. If your study's sample and clinical data are not anonymized at the time of collection, you must provide participants with the opportunity to retrieve their sample. If samples are to be anonymized, when does that take place?
2. Will participants be able to request additional testing of their sample later on?
Risks Associated with this Component of the Study
1. Psychological and social harms, such as anxiety, confusion, damage to family relationships, or a decreased ability to obtain employment or insurance.
2. Risks associated with physical procedures such as blood draw or biopsy.
3. These risks may further extend to members of the participant's family who did not have the opportunity for prior informed consent.
- Benefits - DNA
Potential Benefits Associated with this Component of the Study: Your summary should state that there are no direct benefits to subjects as a result of their participation in the study. Compensation is not considered a benefit.
Participants should be compensated equally regardless of the method used to collect samples (example: blood draw same compensation as a cheek swab)
Describe additional procedures to protect confidentiality, such as a Certificate of Confidentiality. A Certificate of Confidentiality is required for genetics research at this institution unless the sample and clinical data are anonymized at the time of collection. Explain the Certificate of Confidentiality to participants and list exceptions to confidentiality, such as a decision by an investigator to voluntarily disclose cases involving a threat of violence of an individual participant against himself or others or of suspected child abuse. Also, participants should be informed that they must also protect their privacy as individuals. See additional guidance on Certificates of Confidentiality on our website