On March 1, 2018, FDA issued nonbinding guidance on Genomic Sampling and Management of Genomic Data. The guidance was developed with the Expert Working Group of the International Conference for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH), and subjected to consultation by the regulatory parties in accordance with the ICH process. Due to the lack of a harmonized ICH guidance, FDA offers these guidelines pertaining to genomic sampling and management of genomic data in clinical studies. The guidance establishes a common understanding of critical parameters for the unbiased collection, storage, and optimal use of genomic samples and data. The guidance does not address biobanking regulations or ethical aspects.

Awareness of, and interest in, genomic data obtained from clinical studies are growing. Genomic research is useful in all phases of drug development, including assessing genomic correlates of drug response, and allows for a better understanding of pharmacological and pathological mechanisms for identification of new drug targets. The quality of genomic research is dependent upon the unbiased systematic collection and analyses of samples, and the lack of harmonized guidance on genomic sampling and data management makes it difficult for sponsors and researchers to collect genomic samples and conduct genomic research in a consistent manner in global clinical studies. To solve this problem, the guidance establishes standardized practices for collecting/processing and transporting/storing samples, generating and storing genomic data, maintaining privacy and confidentiality of samples, and informed consent policies.

For collection and processing strategies to ensure suitability of samples for genomic testing, the guidance advises that certain pre-analytical variables should be considered, including specimen type, timing of specimen collection, specimen preservation conditions, sample stability/degradation, specimen volume/composition, and parameters influencing genomic sample quality/quantity. For sample transport and storage strategies, the guidance identifies good practices including (1) documenting dates of shipment and receipt as well as temperatures of the specimens when received, (2) storing samples long term to enable re-use and/or future use and as multiple aliquots to avoid repeated freeze/thaw cycles and contamination, and (3) curating sample inventories based on consent for use, length of storage, request to withdraw, and record of sample destruction.

Regarding genomic data, FDA encourages using appropriate levels of assay validation in accordance with local regulations and policies when the data is used for clinical decision making. When the data is used for exploratory settings, sufficient analytical validation should still be conducted to ensure an adequate level of accuracy and consistency to allow for reliable interpretation of the results. For genomic research, sponsors and researchers should undertake rigorous documentation of processing and analytical workflow as well as appropriate QC procedures for all stages of analysis. FDA also recommends that genomic data files be stored in secured media with long-term capabilities with a possibility to link the genomic data to other clinical data as for future use, as appropriate.

FDA also encourages taking steps to maintain privacy and confidentiality of genomic samples and data. Single coding is recommended for genomic samples and data because anonymization has limitations. Because use of genomic samples may require repeated access, FDA also recommends policies and procedures involving systems to ensure strict control of access rights with user access logs for all genomic samples and data.

The guidance finally suggests informed consent policies for the collection and use of genomic samples that permit broad use of the samples, such as assay development, disease research, drug response, or pharmacovigilance regardless of the timing of the analyses.