PCSBI: Privacy and Progress in Whole Genome Sequencing

Yesterday, President Obama’s Commission for the Study of Bioethical Issues released its fifth report: Privacy and Progress in Whole Genome Sequencing.  I haven’t had a chance to digest it yet, but for now, just wanted to call it to everyone’s attention.  The gist seems to be privacy, privacy, privacy.

Here are the major recommendations, straight from the Commission’s “mouth”:

Recommendation 1.1
Funders of whole genome sequencing research; managers of research, clinical, and commercial databases; and policy makers should maintain or establish clear policies defining acceptable access to and permissible uses of whole genome sequence data. These policies should promote opportunities for models of data sharing by individuals who want to share their whole genome sequence data with clinicians, researchers, or others.

Recommendation 1.2
The Commission urges federal and state governments to ensure a consistent floor of privacy protections covering whole genome sequence data regardless of how they were obtained. These policies should protect individual privacy by prohibiting unauthorized whole genome sequencing without the consent of the individual from whom the sample came.

Recommendation 2.1
Funders of whole genome sequencing research; managers of research, clinical, and commercial databases; and policy makers should ensure the security of whole genome sequence data. All persons who work with whole genome sequence data, whether in clinical or research settings, public or private, must be: 1) guided by professional ethical standards related to the privacy and confidentiality of whole genome sequence data and not intentionally, recklessly, or negligently access or misuse these data; and 2) held accountable to state and federal laws and regulations that require specific remedial or penal measures in the case of lapses in whole genome sequence data security, such as breaches due to the loss of portable data storage devices or hacking.

Recommendation 2.2
Funders of whole genome sequencing research; managers of research, clinical, and commercial databases; and policy makers must outline to donors or suppliers of specimens acceptable access to and permissible use of identifiable whole genome sequence data. 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 biospecimens or whole genome sequence data for non health-related
purposes without consent.

Recommendation 2.3
Relevant federal agencies should continue to invest in initiatives to ensure that third-party entrustment of whole genome sequence data, particularly when these data are interpreted to generate health-related information, complies with relevant regulatory schemes such as the Health Insurance Portability and Accountability Act and other data privacy and security requirements. Best practices for keeping data secure should be shared across the industry to create a solid foundation of knowledge upon which to maximize public trust.

Recommendation 3.1
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 whole genome sequences and other data generated in the course of research, clinical, or commercial sequencing, and to know how these data might be used in the future. Consent processes should ascertain participant or patient preferences at the time the samples are obtained.

Recommendation 3.2
The federal Office for Human Research Protections or a designated central organizing federal agency should establish clear and consistent guidelines for informed consent forms for research conducted by those under the purview of the Common Rule that involves whole genome sequencing. Informed consent forms should: 1) briefly describe whole genome sequencing and analysis; 2) state how the data will be used in the present study, and state, to the extent feasible, how the data might be used in the future; 3) explain the extent to which the individual will have control over future data use; 4) define benefits, potential risks, and state that there might be unknown future risks; and 5) state what data and information, if any, might be returned to the individual.

Recommendation 3.3
Researchers, clinicians, and commercial whole genome sequencing entities must make individuals aware that incidental findings are likely to be discovered in the course of whole genome sequencing. The consent process should convey whether these findings will be communicated, the scope of communicated findings, and to whom the findings will be communicated.

Recommendation 3.4
Funders of whole genome sequencing research should support studies to evaluate proposed frameworks for offering return of incidental findings and other research results derived from whole genome sequencing. Funders should also investigate the related preferences and expectations of the individuals contributing samples and data to genomic research and undergoing whole genome sequencing in clinical care, research, or commercial contexts.

Recommendation 4.1
Funders of whole genome sequencing research, relevant clinical entities, and the commercial sector should facilitate explicit exchange of information between genomic researchers and clinicians, while maintaining robust data protection safeguards, so that whole genome sequence and health data can be shared to advance genomic medicine.

Recommendation 4.2
Policy makers should promote opportunities for the public to benefit from whole genome sequencing research. Further, policy makers and the research community should promote opportunities for the exploration of alternative models of the relationship between researchers and research participants, including participatory models that promote collaborative relationships.

Recommendation 5
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.

Holly Fernandez Lynch

Holly Fernandez Lynch

Holly Fernandez Lynch, JD, MBE, is the John Russell Dickson, MD Presidential Assistant Professor of Medical Ethics in the Department of Medical Ethics and Health Policy at Penn’s Perelman School of Medicine. She is also the Assistant Faculty Director of Online Education, helping to lead the university’s first online master’s degree, the Master of Health Care Innovation, and other online offerings.

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