Whole Genome Sequencing: Society to Reap the Benefits But Individuals to Bear the Risks

Using a person’s own genetic code to figure out what treatments might work best against a particular disease will be one of the most powerful weapons available to 21st century doctors and researchers.

But such potential carries a heavy burden to protect the privacy of individuals who agree to share their most intimate information.
Privacy and Progress in Whole Genome Sequencing

That’s one of the overarching themes of the most recent report of the Presidential Commission on the Study of Bioethical Issues, released earlier this month, entitled Privacy and Progress in Whole Genome Sequencing.

“To realize the enormous promise that whole genome sequencing holds for advancing the greater public good, individual interests in privacy must be respected and secured,” said Amy Gutmann, PhD, chair of the commission and president of the University of Pennsylvania.

The 13 commissioners, which include Daniel Sulmasy, MD, PhD, Kilbride-Clinton Professor of Medicine and Ethics in the Department of Medicine and the Divinity School, made a number of recommendations to help guide the president on the benefits, and potential pitfalls, of the rapid advancements in human genome research.

Currently, existing laws and oversights “do not fully protect individuals from the risks associated with sharing their whole genome sequence data and information,” the report said.

Not only is there a “great degree of variation” in protections offered by various states, but only about half of the states have laws or policies against secret commercial genetic testing.

That means, for example, that somebody could legally grab a discarded coffee cup in some states, sequence a sample of saliva, and find out if the unsuspecting individual had a predisposition to certain diseases.

The misuse of such information could have major financial and personal implications for individuals and their relatives.

“There are many ethical issues generated by the explosion in genetic information,” Sulmasy said. “The costs of sequencing a human genome have dropped significantly, but the vast majority of the information in a human genome sequence is of uncertain function and significance and this raises questions about what to do with the information.”

The commission’s recommendations fell under five broad categories:

  • Strong Baseline Protections While Promoting Data Access and Sharing
  • Data Security and Access to Databases
  • Consent
  • Facilitating Progress in Whole Genome Sequencing
  • Public Benefit

“I think that an important overriding theme across many of the recommendations is that the advice we are giving should not be limited to federally funded programs,” said Sulmasy. “Much of the sequencing that goes on today and will be done in the future will occur in the private sector. We all have a stake in this.”

The commission held four public meetings on the topic, and also polled 18 different federal agencies about their protections for genetic and whole genome data.

Some of the specific recommendations called for:

  • Clearly defined policies on access and permissible uses of the sequence data.
  • Establishment by federal and state governments of a floor of privacy protections covering whole genome sequencing regardless of how the data were obtained. That is, whether the sequencing is done in a doctor’s office setting, currently covered by one set of rules, or for research, which has another set of privacy protections.
  • Prohibit unauthorized whole genome sequencing without consent of the individual
  • Elimination of traditional identifiers whenever possible to inhibit re-identification
  • Adoption of robust consent processes that allow participants, patients and others with access to sequences and other data to know how data might be used in the future
  • Policies governing whether incidental findings should be communicated to the individual

The commission is holding its next meeting Nov. 5-6 at the University of Chicago Divinity School’s Swift Hall.  The meeting is open to the public. Among the topics on the agenda will be medical countermeasures for children.

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