Research with Genetics

Human subject is defined as a living individual whom an investigator is performing research on whether that is gaining information or biospecimens. The HHS defines a human subject as a living individual about whom an investigator conducting research obtains data through intervention or interaction with that individual or identifiable private information. The HHS defines research as a systematic investigation including research development, testing and evaluation designed to develop or contribute to generalizable knowledge. Another part of this definition includes the analysis of identifiable biospecimens and private information. If the study meets the criteria for human subject research, it must be submitted to the Institutional Review Board (IRB) for approval prior to beginning.

The consent process involves both an informative dialogue between the participant and investigator as well as a physical form that must be signed by the participant. At this time, investigators must also disclose whether the participant consents to have their data shared for. Although it may not be considered sensitive information, all data should be stored in compliance with federal regulations.

Elements of informed consent may include:

• Purpose of Research
• Description of Research
• Risks
• Benefits
• Alternatives to Participation
• Confidentiality
• Resources Available in Case of Injury
• Contact Information
• Voluntariness
• The Collection of Identifiable Information and Identifiable Biospecimens
• Compensation
• Withdrawal from Research
• Clinically Relevant Results

Since genetic and genomic research may involve identifiable biospecimens additional elements to be aware of when conducting this type of research include:

• If the data will be stored indefinitely
• Informing subjects about susceptibility to certain conditions either personal or family history related
• Informing subjects about risks that they carry
• Potential for findings to be reinterpreted over time
• Possible privacy concerns
• Future decision making about family planning

Genomic data is challenging when it comes to protection since genetic information is unique to each participant and could potentially be identifiable. The NIH Genomic Data Sharing Policy sets guidelines on the protection of research participant confidential information. A major aspect of this involves giving access to only researchers that submit a request from the Data Access Committee. With approval from this committee, researchers can gain access to databases such as The Cancer Genome Atlas (TCGA).

The NIH also issues certificates of confidentiality to protect private information of participants. Investigators are required to withhold identifying information that could potentially have a negative impact on participant’s employment, financial, or insurance status. This certificate applies to federal, state, or local levels.

For more information regarding the specific language built into consent forms please visit the following link:

Risks to genetic research involve not only those involved in gene therapy but also social and psychological. Upon learning about genetic conditions about oneself, participants may become stressed about their condition. Due to this, in studies involving conditions such as Huntington’s Disease, researchers may be required to do an emotional stability screening prior to enrolling the participant to the study. Institutional Review Boards (IRBs) may require research facilities to provide counseling services for certain types of studies. For this reason, investigators are strongly encouraged to let participants know that genetic and genomic research has a margin of error and that future studies may change understanding of disease states as it is known today. Social risks include the fear of being labeled as well as potential changes in employment or insurance status upon diagnosis.

Reduced uncertainty of genetic disease is the most significant benefit of genetic research. Participants are able to better plan for their future by knowing about the chance of developing a genetic condition as well as the risks involved with it. Furthermore, genetics and genomics is an evolving field and every advancement contributes to growing scientific understanding of the cause, treatment, and risks of many diseases.

Ethical concerns about genetic testing include the extent of information that participants should know about their genetic condition. Researchers should be aware of the potential impact that disclosure of sensitive health information can be to patients. This involves finding the best way to communicate risks of developing a particular disorder as it could change aspects of a patient’s life. There are also implications as to the process of informed consent and what defines an individual’s ability to make an independent decision. There are also concerns regarding the amount of data that can be collected from participants whether that involves blood work, other clinical exams, or even interviews between participants.

Legal implications are focused on securing private health and confidential information. Documentation for the process is done through the informed consent form and must clearly outline research protocol, patient risk, and the general purpose of biospecimen collection. For example, data may be used for current studies but if consented for can also be used for future projects.Additional implications includes who has access to private health information. This ensures that only researchers and investigators that require the data to perform research are the ones that have access to it. If the data is to be used for future purposes, consent must first be obtained and then can be shared to the authorized individuals.