The Presidential Commission for the Study of Bioethical Issues hasreleased its report concerning genomics and privacy. The report, Privacy and Progress in Whole Genome Sequencing, concludes that to realize the enormous promise that whole genome sequencing holds for advancing clinical care and the greater public good, individual interests in privacy must be respected and secured. As the scientific community works to bring the cost of whole genome sequencing down from millions per test to less than the cost of many standard diagnostic tests today, the Commission recognizes that whole genome sequencing and its increased use in research and the clinic could yield major advances in health care. However it could also raise ethical dilemmas. The Commission offers a dozen timely proactive recommendations that will help craft policies that are flexible enough to ensure progress and responsive enough to protect privacy.
“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,” said Commission Chair Amy Gutmann, Ph.D. “The life-saving potential of genome sequencing depends on gathering genetic information from many thousands (perhaps millions) of individuals, most of whom will not directly benefit from the research. Those who are willing to share some of the most intimate information about themselves for the sake of medical progress should be assured appropriate confidentiality, for example, about any discovered genetic variations that link to increased likelihood of certain diseases, such as Alzheimer’s, diabetes, heart disease and schizophrenia. Without such assurance in place, individuals are less likely to voluntarily supply the data that have the potential to benefit us all with life-saving treatments for genetic diseases. Everyone stands to gain immensely from our society taking the necessary steps to protect privacy in order to facilitate progress in this era of whole genome sequencing.”
The report outlines steps the U.S. Government can take to prevent ethical problems. This proactive look by the Commission highlights the key issues surrounding how to reconcile the need for protecting privacy with the need for gathering data from many individuals to advance discoveries with whole genome sequencing.
“Realizing the promise of whole genome sequencing requires widespread public participation and individual willingness to share genomic data and relevant medical information,” said Commission Vice Chair James W. Wagner, Ph.D. “In other words, scientists and clinicians must have access to data from large numbers of people who are willing to share their private information. This in turn requires public trust that any whole genome sequence data shared by individuals with clinicians and researchers will be adequately protected.”
The Commission found that current governance and oversight of genetic and genomic data varies in its protection of 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,” Wagner said.
Only about half the states, for example, offer protections against surreptitious commercial testing.
Recognizing that ethical obligations importantly reach beyond what is legally enforceable, the Commission examines both the relevant ethical principles and the relevant legal requirements to offer guidance as to what ethically ought to be done and what legally must be done. This is the foundation upon which the Commission builds its whole genome sequencing recommendations including proposals for: strong baseline protections while promoting data access and sharing; improved data security and access to databases; a fully informed consent process; facilitating progress in whole genome sequencing through support of integrating whole genome sequence data into health records; and ensuring that all citizens benefit from the medical advances that result from whole genome sequencing.
Among the recommendations the Commission specifically urges the federal and state governments to develop a process for ensuring 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 the consent of the individual from whom the sample came.
“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. Moreover, in many states in the U.S. someone could legally pick up your discarded coffee cup and send a sample of your saliva out for sequencing to see if you show a predisposition for certain diseases. The exact same data – arguably your most personal data – are treated differently depending on who took your sample to sequence your genome. These are just a few discrepancies in public policy that can create confusion and uncertainty when it comes to understanding how to protect some of our most personal data. 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 life-saving discoveries.”
Privacy and Progress in Whole Genome Sequencing has been presented to the Administration and is posted on the Commission’s website.*
The Presidential Commission for the Study of Bioethical Issues (the Commission) seeks to identify and promote policies and practices that ensure that scientific research, health care delivery, and technological innovation are conducted by the U.S. in a socially and ethically responsible manner. The Commission is an independent, deliberative panel of thoughtful experts that advises the President and the Administration, and, in so doing, educates the nation on bioethical issues.
To date the Commission has advised the White House on the benefits and risks of synthetic biology; assessed the rules that currently protect human subjects in research; and completed an independent investigation into the specifics of the U.S. Public Health Service STD experiments in Guatemala in the 1940s.