January 1, 2013 (Vol. 33, No. 1)

Group Focuses on Data-Sharing and Privacy Concerns Inherent with Whole-Genome Sequencing

The Presidential Commission for the Study of Bioethical Issues released a report entitled “Privacy and Progress in Whole Genome Sequencing” on October 11, 2012. In issuing the report, the Commission intended to identify privacy and data-sharing risks and challenges posed by whole-genome sequencing (WGS) and to articulate a series of recommendations for facilitating the advancement of WGS while balancing important public policy considerations.

The Commission is an advisory panel composed of experts in a variety of disciplines, such as medicine, science, ethics, and law. Charged with advising the President on bioethical issues attendant to biomedical innovation, it seeks to identify best practices and policies that ensure that the biomedical innovation is informed by a set of ethical principles. The Report sets forth 12 recommendations to address the privacy and data-sharing concerns.

The report notes that WGS is increasingly popular among patients, physicians, and researchers in part because it’s cheaper to perform, we know the clinical significance of more and more sequences, and it is vital to successful biomedical innovation in the genomic age. Although the majority of people still do not currently have their entire genome sequenced, and opt instead for specific genetic tests as needed (which are often covered by insurance where WGS is typically not), the Commission expects that WGS will become an increasingly attractive and effective option.

Jennifer Geetter

Ethical Concerns

In light of this trend, the Commission argues for prospective safeguards and solutions for data-sharing maximization and informational privacy protections that account for some of the specific ethical concerns the Commission sees as raised by WGS.

Of course, concerns about genetic privacy are not new. Questions about the nature and degree of privacy risks posed by genetic information as compared to other types of sensitive health information, such as mental health information and communicable disease information, are also not new. Thus, in considering informational privacy and other risks for WGS, it is important to consider whether these are new risks in kind and/or new risks in degree.

The Commission appears to try and identify both risks new in kind and risks new in degree, as well as to highlight existing regulatory gaps or barriers to equitable data sharing. For example, the Commission explores several privacy-related concerns regarding group or community privacy, as information gleaned from WGS may reveal something about the tested individual’s family or community members if the results suggest a familial, racial, or ethnic predisposition to a condition as opposed to a random, isolated genetic mutation in that one individual.

The Commission also notes with concern whether existing state and federal privacy frameworks are adequate in light of the sheer amount and detail of information about an individual that could be learned and abused through unauthorized access. Apart from privacy, the Commission questions whether risk and incentives are appropriately calibrated currently to promote equitable data sharing and data-use benefits.


Accordingly, the report proposes 12 recommendations across the following goals: (1) data protections simultaneous with data access and sharing; (2) data security and access to secure databases; (3) different consent models; (4) facilitating WGS progress; and (5) maximizing public benefit:

1.1 Various genomic medicine stakeholders should have clear policies for access to and permissible uses of WGS data. The policies should promote opportunities for data sharing.

1.2 Federal and state lawmakers should implement a “consistent floor of privacy protections” that would protect individual privacy and prohibit unauthorized access.

2.1 Various genomic stakeholders should ensure the security of WGS data and should be mindful of ethical standards for the use and disclosure of such information and held accountable for federal and state regulations for security breaches.

2.2 Various genomic stakeholders need to explain clearly to patients and donors of WGS information the permissible uses and disclosures of such information and, whenever possible, WGS data should be stripped of certain “traditional” identifiers to minimize the chances of linking this information to individuals.

2.3 Federal agencies should invest in efforts to ensure compliance with existing privacy regimes and to assist in the development of best practices.

3.1 Researchers and clinicians should develop and implement new consent policies and procedures tailored to genomic privacy and should seek to obtain up-front consent for future use.

3.2 OHRP or another federal agency should establish clear and consistent guidelines for informed consent forms for research.

3.3 Researchers, clinicians, and WGS commercial providers should explain the risks of incident findings and whether such findings will be communicated to the patient.

3.4 Funders of WGS should support studies that assess models for sharing incidental findings and that assess public expectations with respect to incidental findings.

4.1 Various genomic stakeholders should facilitate information exchange between researchers and clinicians while maintaining data protections.

4.2 Lawmakers should identify ways for the public to benefit from WGS research and for researchers and research subjects to collaborate on genomic research.

5.0 Federal government should facilitate access to WGS-generated advancements to the greatest number of people to ensure that everyone who can benefit does.

Overall, the Commission’s recommendations encourage stakeholders to look through genomic-colored glasses in order to leverage well-established ethical and legal principles in anticipation of the widespread adoption of WGS. As genomic information moves from the periphery to the center of medial practice, patients will increasingly undergo WGS. Accordingly, the privacy and data-sharing protections and incentives put in place for genomic information may well serve as a harbinger of the next-generation privacy and data-sharing framework generally.

The Commission’s Report, therefore, should be carefully considered as an early government effort to establish public policy in this important area, and WGS stakeholders should begin the process of reviewing their policies, practices, agreements, and other procedures and forms with an eye to tailored protections.

Jennifer S. Geetter ([email protected]) is a partner in the law firm of McDermott Will & Emery and a member of the firm’s Life Sciences Affinity Group and Personalized Medicine Team, and Privacy and Data Protection Practice.

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