The delivery of health care is in a period of intense transition as information garnered from the sequencing of complete genomes is being integrated into the development and delivery of clinical care. This information is necessary for the advancement and continued development of personalized medicine. As many parties touch this data, e.g., the laboratory technician, the research hospital, the drug developer and the clinician, the patient and her family is vulnerable to unauthorized access to and misuse of that information.

Earlier this month the Presidential Commission for the Study of Bioethical Issues (the Commission) issued guidelines to address ethical and legal issues that arise as a result of whole genome sequencing. Privacy and Progress in Whole Genome Sequencing, Presidential Commission for the Study of Bioethical Issues, attached here as the “Report.” The Commission recognized that current U.S. governance and oversight of genomic data do not fully protect individuals from the risks associated with sharing their whole genome sequence data and information, which sharing is necessary to advance the technology and realize its full potential. Presently, privacy regulation varies greatly from state to state. After reviewing any present regulations and considering their limitations and possible future use of the technology and ethical obligations concerning the use of this information, the Commission recommends strong baseline protections for whole genome sequence data to protect individual privacy and data security while also leaving ample room for data sharing opportunities that propel scientific and medical progress. The Commission recommends the following:

  1. Strong Baseline Protections While Promoting Data Access and Sharing.  Clear policies defining acceptable access to and permissible uses of whole genome sequence data are necessary. The policies should promote opportunities for models of data sharing by individuals who want to do so. A consistent floor of privacy protections covering whole genome sequence data is necessary regardless of how the data were obtained. The policies must protect individual privacy and prohibit the unauthorized use of data without individual consent.
  2. Data Security and Access to Databases. Accessible whole genome sequence data should be stripped of traditional identifiers whenever possible to inhibit recognition or re-identification. Only in exceptional circumstances should entities such as law enforcement or defense and security have access to bio specimens or whole genome sequence data for non health-relate purpose without consent. In addition, relevant federal agencies should continue to invest in initiatives to ensure that third-party entrustment of whole genome sequence data complies with relevant regulatory schemes such as the Health Insurance Portability and Accountability Act.
  3. Consent. Researchers and clinicians should evaluate and adopt robust and workable consent processes that allow research participants, patients, and others to understand who has access to their information and how this data might be used in the future. Recommended for informed consent forms include: 1) a brief description of whole genome sequencing and analysis; 2) state how the data will be used now and how it might be used in the future; 3) explain the extent to which the individual will have control over future data use; 4) define the benefits and potential risks, and state that there might be unknown future risks; 5) state what data and information might be returned to the individual; and 6.) state which incidental future findings might be communicated to the patient and the scope of that communication and to whom it will be communicated.
  4. Facilitating Progress in Whole Genome Sequencing. Policy makers are recommended to promote opportunities for the public to benefit from whole genome sequencing research. Alternative models of the relationship between researchers and research participants should be explored that promote collaborative relationships. 
  5. Public Benefit. Finally, the Commission encourages the federal government to facilitate access to the numerous scientific advances generated through its investments in whole genome sequencing to the broadest group of persons possible to ensure that all persons who could benefit from these developments have the opportunity to do so.

Advancing the Principles of Personalized Medicine

Significant advances in personalized medicine will require the collection and analysis of large data sets of patient information. Unauthorized and/or misuse of this information could derail progress and hinder patient participation. The Commission’s analysis and recommendations to protect patient privacy and provide wide scale access to this information, if accepted, will continue to foster the development of this promising technology.