When it comes to genetic testing, how can we protect the rights and privacy of individuals while encouraging genetic exploration and research? Should privacy trump sharing when it comes to our data, even if that risks public health?

ATCGTGCTAGTCGAC… Repeat this sequence and change the letter order 200 million times, and you will get the amount of unique data obtained after sequencing the entire genome of one person. That’s a lot of data.

But whose data is it, really? And, as more and more people sign up to sequence their own genomes and privacy concerns form the core of the public conversation, could we lose the potential to serve the greater good?

The Anatomy Lesson

The Anatomy Lesson of Dr. Nicolaes Tulp

The costs

In the last five years, the price tag for a whole genome sequence decreased from over $10 million to a couple of thousand dollars due to improvements in technology. For routine methods like single gene or single variant sequencing, it’s even cheaper and therefore more accessible.

Stored in patient health records and databanks, genetic data are shared among clinicians to improve care, much as other biological data have been shared for research purposes for centuries.

With affordable methods for sequencing the human genome, though, an increasing number of people are opting to decode their DNA through online services either for recreation, ancestry research, or to inform their medical decisions. That latter service has been called into question, most recently when the FDA all but halted 23andMe’s sale of direct to consumer genetic testing kits, arguing that the company was promising medical information without approval.

What does more readily available genetic data mean for individual privacy? A study published by Gymrek et al. in the journal Science last year raised this question by linking genetic data with patient identity based on metadata such as gender, age, and sometimes location, provided online. This has potentially far-reaching implications. Could insurance companies raise premiums or deny coverage based on the results of genetic data, for example?

23andMe genetic data

Share and share alike

Researchers and clinicians are working hard to decipher all possible DNA sequences, including how and what variations may be associated with disease. With the vast majority of genetic testing in the US done in commercial labs not required to share their data for clinical use, however, the scientific process slows down and a lot of the knowledge out there doesn’t make it into the public health sphere.

In 2007, however, in the Amendment to Opinion E-9.095 “Trademarks, Patents, Copyrights, and Other Legal Restrictions on Medical Procedures” by the Council on Ethical and Judicial Affairs, the American Medical Association stated,

The use of patents, trade secrets, confidentiality agreements, or other means to limit availability of medical procedures places significant limitation on the dissemination of medical knowledge, and is therefore unethical.

Further, the Association encouraged laboratories to put their data into the public domain to allow interpretation and surveillance for variations that could impact public health.

At the October 2013 ScienceOnline Bay Area meeting held at swissnex San Francisco, UCSF medical geneticist Robert Nussbaum commented that, “If we give privacy and autonomy the absolute trump card… it will interfere with our ability to provide decent genomic and genetic care, and this is contrary to the public health. It is contrary to the principle of beneficence, which is an important tenant of bioethics.”

Beneficence, according to Nussbaum, is possible only when databanks are big enough to support clinical research. But from the patient point of view, the problem seems to be how much we can or cannot trust the places where our data is going.


Issues around genetic data privacy raise questions

Protecting rights, serving science

While some warn that data should never be shared for fear of privacy issues, others in the Bay Area and around the world are working to empower patients to serve themselves as well as the common good.

Greg Biggers is the CEO at Genomera (Mountain View, California) and also a speaker at SOBA. His platform allows users to share genomic information and health related issues associated with genetics. It also offers a way for members to suggest and take part in the analysis of research and clinical trials. This example of a patient-driven initiative may create enough trust and engagement for participants to decide to willingly donate their data.

“Historically, bioethics has expressed the need for protection. Now we have to add the value of expression,” Biggers says. “Expression and control should become the norm for those communities more than the discussion about privacy.”

The groundswell of patient data sharing extends to clinician-led initiatives like sharingclinicalreports.org, created by Nussbaum and using de-identified data to improve the quality of genomic testing. Such examples of citizen science could be one solution to creating a worthy and transparent structure.

Barbara Koenig of UCSF believes we also have to find new ways of governance that are trustworthy. She is a co-director of a new, multidisciplinary center exploring the ethical, legal, and social implications of genomics in healthcare.

Reconciling concerns and rights with public health

Questions still remain about how risks to privacy will be governed. “The legal and regulation systems are 30 years behind the speed of technology and data production,” warns Biggers.

From top-down rules to bottom-up discussions, the laws and structures for genetic testing clearly need to evolve with the production of millions of new DNA sequences and associated data.

Lawyers, clinicians, bioethicists, and patients all agree that they need to solve the problem of genetic privacy, and many want to make sure this doesn’t happen at the cost of possibly live-saving research. The conversation will surely continue.

What do you think? Share your thoughts!