Panel Urges Individual Privacy Protection To Benefit From Whole Genome Sequencing

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To realize the enormous promise that whole genome sequencing holds for advancing clinical care, individuals' privacy must be respected and secured, with a consistent floor of privacy protections established regardless of how the data were obtained, a presidential commission report released Oct. 11 concluded.

The report also recommended the establishment of clear processes and policies for informed consent and the formation of a working group to determine what constitutes a baseline for privacy protection.

“The commission's goal was to find the most feasible ways of reconciling the enormous medical potential of whole genome sequencing with the pressing privacy and data access issues raised by the rapid emergence of low-cost whole genome sequencing,” Amy Gutmann, chair of the Presidential Commission for the Study of Bioethical Issues, told reporters Oct. 11.

The report offered recommendations to help craft policies that are flexible enough to ensure progress and responsive enough to protect privacy, she said.

Close to One's Personal Identity.

According to Gutmann, who is president of the University of Pennsylvania, whole genome sequencing is basically the mapping of the complete DNA sequence of an individual's genome. “It has been seen as being close to one's personal identity,” she noted, adding, “Privacy is very different for whole genome sequencing than it is for one genetic test because it's not just you you're learning about but your family.”

The commission found that current U.S. governance and oversight of genetic and whole genome data may fail to fully protect individuals from the risks associated with sharing their whole genome sequence data and information.

“In particular, a great degree of variation exists in what protections states afford to their citizens regarding the collection and use of genetic data. Only about half the states, for example, offer protections against surreptitious commercial testing,” Commission Vice Chair James W. Wagner, who is president of Emory University, said in a statement.

Inconsistent Protection for Some Testing.

The commission recommended that federal and state governments ensure a consistent floor of 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 an individual's consent.

“Your genome sequenced at your doctor's office would be the same as your genome sequenced during research,” Gutmann said. “However, the sequence information collected in a doctor's office is protected by the Health Insurance Portability and Accountability Act (HIPAA), and the sequence information collected during research is protected by what's known as the Common Rule” for protection of human research subjects.

In many states, Gutmann said, someone could legally pick up a discarded coffee cup and send a sample of the user's saliva out for sequencing to see if that person shows a predisposition for certain diseases. “The high cost of doing this has provided a barrier, but in the future, when the cost has gone down, it could happen without baseline privacy protection in place,” she said.

The report also recommended that:

• funders of whole genome sequencing, research managers, and participants establish clear policies for defining acceptable access and permissible use of whole genome sequencing;

• clinicians and research managers ensure the security of data, outline to donors acceptable access and permissible use of the data, and evaluate and adopt robust and workable consent processes to allow participants to understand who has access to the data; and

• the Department of Health and Human Services Office for Human Research Protections or a designated central organizing agency establish clear and consistent guidelines for informed consent forms.


While not advocating a federal law to ensure the protection of individuals' privacy from misuse of data obtained during whole genome sequencing, the committee, Gutmann said, envisioned that a group composed of federal and state experts and members of the informed public would be formed to obtain a consistent baseline for privacy protection.

“Confusion and uncertainty tend to erode trust, and trust is the key to amassing the large number of genomic data sets needed to make powerful lifesaving discoveries,” Gutmann said.

Asked if existing laws such as HIPAA or the Genetic Information Nondiscrimination Act could be used to provide the necessary protection, Gutmann said those laws would have to be reformed to cover more types of situations, entities, and data than they now do to provide the necessary privacy protection with the use of whole genome sequencing.

By John T. Aquino  

The 154-page PCSBI report, “Privacy and Progress in Whole Genome Sequencing,” is available at

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