On October 11 the Presidential Commission for the Study of Bioethical Issues released the 154-page “Privacy and Progress in Whole Genome Sequencing”report, which concludes that, in order “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.”
The commission recommends that strong baseline protections for whole genome sequence data to protect individual privacy and data security are required, “while also leaving ample room for data-sharing opportunities that propel scientific and medical progress.”
In other words, the health-care and research communities should develop more comprehensive informed consent procedures to protect patient wishes after their entire DNA is sequenced, and also have that data treated as confidentially as the patient’s other personal medical data.
A Growing Risk?
Stolen or misused genome sequence data could become more problematic as genome sequencing comes down in price and is used more widely. This highly personal health information, which reveals predispositions toward serious health conditions like cancer, could be used to discriminate in hiring or for insurance coverage situations.
“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,” says commission chair Amy Gutmann. “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.”
Although a few federal laws offer some protection, such as the Health Insurance Portability and Accountability Act (HIPAA), Genetic Information Nondiscrimination Act, and Common Rule, they are more designed for research subjects than patients.
Who is Best 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, especially from state to state. For example, only about half the states offer protections against surreptitious commercial testing. The report called for the establishment of a “consistent floor of protections covering whole genome sequence data regardless of how they were obtained” and outlined 12 general recommendations.
“Your genome sequenced at your doctor’s office should be the same as your genome sequenced during research,” says Gutmann. “However, the sequence information collected in a doctor’s office is protected by the Health Insurance Portability and Accountability Act and the sequence information collected during research is protected by the Common Rule.
Privacy Gets Personal
The exact same data—arguably your most personal data—are treated differently, “depending on who took your sample to sequence your genome,” she continues. “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.”
For example, in many states, 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.
“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,” says Gutmann. “This is why we need 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.”