Genetic Information Privacy: An Interview with Lee Tien
Interview by Hart Fogel
Genetic information privacy is an increasingly hot topic of public and political debate, and this issue represents a complex intersection of health policy, privacy and criminal justice. Considering the nuanced nature of the subject and its diverse implications, senior editor Hart Fogel conducted an interview via e-mail with Lee Tien, Senior Staff Attorney and Adams Chair for Internet Rights at the Electronic Frontier Foundation, about genetic information privacy. Mr. Tien has written articles on topics ranging from privacy and surveillance to free speech in the field of computer software to children’s sexuality and information technology.
Hart Fogel (HF): Briefly, what is genetic information privacy and why is it important?
Lee Tien (LT): It’s privacy concerning a person’s genetic makeup, which is quintessential, highly private/sensitive, medical or health information. Your DNA is of course linked to diseases and health conditions. It reveals ancestry, which can matter to people for non-health reasons—one particularly common and mundane issue is “he’s not my father/child.” It can make you a criminal suspect per DNA identification, deem you at risk for breast cancer, etc. All this can affect decisions that governments, employers, and other people make about you.
HF: What are some of the most prominent forms of genetic information collection, and how is this data stored and analyzed?
LT: Hard to generalize. Genetic information, per se, isn’t usually collected as information; it’s collected from cells that contain DNA. We shed DNA all the time, wherever we go. Many medical visits deliberately collect blood or urine, hospitals collect biospecimens, and many people these days affirmatively submit samples to increasingly cheap testing services. I believe the [United States] military does DNA testing on military personnel, both for identification and biological research. That’s got to be a big one.
And of course there’s law enforcement DNA collection, see e.g. Maryland v. King (2013). [The late Supreme Court Justice Antonin] Scalia’s dissent is excellent!
HF: Does the digitization of medical records and genetic information pose a greater privacy risk?
LT: Yes, for two reasons. For all medical records, digitization presents an increased privacy risk over paper records, both because electronic data breaches can be enormous and because the copied or seized data can spread quickly and widely. For genetic data—well, you really wouldn’t have it all without digitization (computers) and the file is big.
According to this article, your basic human genome is something like 200 gigabytes: https://medium.com/precision-medicine/how-big-is-the-human-genome-e90caa3409b0
HF: In the cases of companies like 23andMe and Ancestry.com which collect DNA samples from consumers and provide people with information on their health, traits and ancestry, what are some privacy aspects of these exchanges which consumers may not be aware of?
LT: I’m pretty sure that there have already been cases where people unexpectedly discovered that a parent was not a biological parent. Not sure that’s a privacy issue though. I suspect that consumers as a whole grasp many of the privacy risks, but they may not be able to assess their seriousness well. They probably have no idea where their genetic information goes [and] who knows their DNA [police, the government health establishment, researchers, etc.]
They also may not think about what their DNA says about their biological relatives. My DNA says things about my children and my siblings (think about familial DNA identification). Information about me could taint them. In a European case, an Icelandic woman claimed that her privacy was violated by her father’s DNA information in a database.
HF: Earlier this year, 23andMe received a green light from the Food and Drug Administration to offer certain tests that identify consumers' risks of developing ten different diseases. (23andMe had suspended this sort of testing in 2013 after the FDA expressed concerns regarding the accuracy of the tests.) What are the market implications of this? Can we expect to see more of this sort of direct-to-consumer marketing for health procedures and tests?
LT: That is the first major implication. I can’t project further except to say that DTC [direct-to-consumer] testing usually links up with research using the genetic data that comes from the testing, so the larger market implications have to do with the commercial market for that information (which is huge).
HF: In what ways could this trend potentially be problematic?
LT: DTC companies aren’t usually covered by the existing privacy laws. Thus, data transfers that would be unlawful or unethical if done by your doctor or hospital might not be by a DTC company.
HF: How and to what extent could the collection of genetic information lead to discrimination? In particular, might people be at risk of discrimination at the hands of employers and health insurance companies?
LT: Many diseases have genetic components and therefore some people are more at risk for such diseases. Procreation partners often care about the risk of birth defects or heritable genetic conditions. Obviously, there’s an economic incentive to favor the healthy and the likely to be healthy in most cases. We already see corporate wellness programs all over the place. You might be charged more for health insurance if you are high risk for some conditions. You might see more employer or insurer surveillance of your off-work behavior. We discussed some related issues here: https://www.eff.org/deeplinks/2016/07/new-eeoc-rules-allow-employers-pay-employees-health-information
And of course one should never forget the eugenics movement.
HF: What are some of the implications of the collection of genetic information for law enforcement? What risks accompany practices like the increasing use of familial DNA analysis in criminal investigations?
LT: There are so many implications, but they generally stem from either accuracy or inaccuracy. Accuracy implications, to me, mean the dangers of the government knowing with precision where a person has been or what people were present in a given setting. That way leads to a police state. Inaccuracy implications, conversely, mean the dangers [of the government being] wrong about the above. With any forensic technique, a combined implication of the two is that the government is wrong but the forensic report seems rock-solid -- thus making it even harder for someone to defend herself if charged with a crime. And yet the report is the product of much human work and interpretation. How evidence is stored and analyzed matters. But the “CSI effect” is powerful. See: https://www.theatlantic.com/magazine/archive/2016/06/a-reasonable-doubt/480747/
From The Atlantic: “‘Ironically, you have a technology that was meant to help eliminate subjectivity in forensics,’ Erin Murphy, a law professor at NYU, told me recently. ‘But when you start to drill down deeper into the way crime laboratories operate today, you see that the subjectivity is still there: Standards vary, training levels vary, quality varies.’ Last year, Murphy published a book called Inside the Cell: The Dark Side of Forensic DNA, which recounts dozens of cases of DNA typing gone terribly wrong. Some veer close to farce, such as the 15-year hunt for the Phantom of Heilbronn, whose DNA had been found at more than 40 crime scenes in Europe in the 1990s and early 2000s. The DNA in question turned out to belong not to a serial killer, but to an Austrian factory worker who made testing swabs used by police throughout the region. And some are tragic, like the tale of Dwayne Jackson, an African American teenager who pleaded guilty to robbery in 2003 after being presented with damning DNA evidence, and was exonerated years later, in 2011, after a police department in Nevada admitted that its lab had accidentally swapped Jackson’s DNA with the real culprit’s. Most troubling, Murphy details how quickly even a trace of DNA can now become the foundation of a case. In 2012, police in California arrested Lukis Anderson, a homeless man with a rap sheet of nonviolent crimes, on charges of murdering the millionaire Raveesh Kumra at his mansion in the foothills outside San Jose. The case against Anderson started when police matched biological matter found under Kumra’s fingernails to Anderson’s DNA in a database. Anderson was held in jail for five months before his lawyer was able to produce records showing that Anderson had been in detox at a local hospital at the time of the killing; it turned out that the same paramedics who responded to the distress call from Kumra’s mansion had treated Anderson earlier that night, and inadvertently transferred his DNA to the crime scene via an oxygen-monitoring device placed on Kumra’s hand."
Familial DNA analysis is much criticized for its inaccuracy. It also of course combines with concerns about racism and “the usual suspects.” At crime scenes there is a lot of DNA and it can be in less than pristine condition. [The article from] The Atlantic explains this well.
HF: What concerns exist surrounding the use of genetic testing in medical contexts like the screening of newborns for genetic diseases?
LT: Such screening is a good thing. The concerns are for informed consent -- do the parents have a choice? -- and the disposition of the biospecimen (typically a blood spot) for purposes other than newborn screening. If the blood spot is retained, it can be analyzed for DNA identification purposes such as in a law enforcement database. Obviously, if all newborns are tested, you’ll get a huge DNA ID database of all born in the United States, with obvious privacy concerns.
HF: When individuals undergo genetic testing, do they generally have a sufficient understanding of what giving away this information entails? Are they truly able to provide informed consent?
LT: Hard to know. Medical ethics requires some disclosure. Non-medical contexts like 23andMe are trickier. I don’t know what they tell people.
HF: In what ways is genetic privacy currently protected? What are some additional safeguards that could be implemented in order to balance people's privacy and the potential benefits of genetic information collection (for example, the study of genetic diseases and development of new drugs)?
LT: Under HIPAA [Health Insurance Portability and Accountability Act], there is some protection for medical information privacy and security. Without going deeply into HIPAA, it is not a strong privacy/security law. It only covers medical providers (doctors, hospitals), insurance companies, and their business associates. It is primarily designed to keep dissemination of health information within the health care system, not to limit collection of it. And HIPAA is relatively porous in terms of data transfer to the government, whether law enforcement, intelligence agencies, or public health agencies.
GINA, the Genetic Information Nondiscrimination Act, tries to protect individuals against insurance and workplace discrimination. It is also pretty weak: http://www.councilforresponsiblegenetics.org/genewatch/GeneWatchPage.aspx?pageId=184
I strongly advise you read the section beginning here: "There are three major flaws with GINA. First, it applies only to two aspects of the problem, discrimination in health insurance and employment. To allay public concerns about genetic discrimination, it's necessary to prohibit the adverse treatment of individuals in numerous settings. GINA does nothing to prohibit discrimination in life insurance, disability insurance, long-term care insurance, mortgages, commercial transactions, or any of the other possible uses of genetic information. It remains to be seen whether GINA's limited applicability, coupled with its inadequate protections in health insurance and employment, will be enough to reassure the public that undergoing genetic testing will not endanger their economic security…”
The Common Rule, which is federal policy/law that attempts to maintain high ethical standards for federally funded research, is another source of protection for people. It is pressured by big data and the promise of genetic research: https://www.eff.org/deeplinks/2016/01/more-needs-be-done-strengthen-protection-human-subjects-scientific-experiments
HF: Is there anything else you would like to add?
LT: This is a tough subject for privacy. The most important reason is that we shed DNA all the time. So you are trying to keep “private” something that you are “leaking” all the time. Our main protection is that it’s not cheap to go from cells to DNA sequence, but that is getting cheaper every day. We see in lawsuits the law enforcement claim that the Fourth Amendment doesn’t protect your “abandoned” cells from government analysis.
Second, I’ll emphasize the CSI effect — juries convict on DNA even though the actual process of producing the “it’s 99% likely that he’s the guy” is susceptible to much error.
Third, there are so many promised benefits to widespread genetic testing …. makes it tough to argue privacy.
Finally, genetic information isn’t just DNA. Your family tree, obituaries of your relatives, [etc.] contain genetic information. If my wife reports on Facebook that her sister has breast cancer there’s an inference that my wife could have inherited mutations in the BRCA1 or BRCA2 tumor suppressor genes. So the current genealogy craze and all those TV ads from Ancestry.com probably feed the fire.