Tag Archives: privacy

Guest Post: An Education in ‘Re-identification’: Learning From the Personal Genome Project


Leila Jamal is a genetic counselor in pediatric neurology and a PhD student in Bioethics and Health Policy.  The views expressed here are hers and hers only.

As many are now aware, Latanya Sweeney and her colleagues at Harvard’s Data Privacy Lab recently published a study demonstrating the individual “re-identifiability” of research participants in the Personal Genome Project (PGP).  Despite misleading news coverage overstating the proportion of individuals Sweeney’s team re-identified (using self-reported birthdates, genders, and zip codes) the study has sparked some useful discussions about the implications of ‘re-identifiability’ for genomic research and the ethics of re-identification demonstrations.  For a comprehensive roundup of these issues, I recommend reading a series of perspectives corralled by Michelle N. Meyer in her Online Re-Identification Symposium over at the Petrie-Flom Center’s Bill of Health.  This post will not match the breadth and depth of insight covered by my friends and colleagues there.   My more modest aim is to contemplate what genomic researchers and counselors can learn from the ripple effects of Sweeney’s study.

The PGP is demonstration project in its own right, with one of its goals being to “explore the opportunities, risks, and impacts of public genomics research”.   As clairvoyants who saw the pitfalls of guaranteeing anonymity to participants in whole-genome research early on, PGP founder George Church and colleagues developed a novel strategy for securing the trust of prospective participants by privileging the principle of “veracity” in their informed consent process.  Accordingly, the PGP informed consent form clearly tells prospective participants that any personal data they contribute to the PGP may be linked to their individual names.

By pursuing this strategy, the PGP nudged a shift in our thinking about the risks of genomic research.  The emphasis on veracity reflects a subordination of concern about risks to individuals posed by anonymity breeches in favor of concern about risks to genomic research posed by breeches of researcher-participant trust.   Since its inception in 2005, the PGP has reciprocated the openness of its participants by developing open-source research tools, hosting them at an annual education meeting, returning their individual research data, and keeping them abreast of the PGP’s activities with blog updates.

In light of the PGP’s emphasis on transparency and data-sharing, a key question raised in the aftermath of the Sweeney et al. study is whether participants had a “right” to be distressed – or even surprised – that their identities were (potentially) made public by a third-party demonstration project.  In a pair of symposium posts, Madeleine Ball and Misha Angrist stress that the possibility of individual participant identification from PGP data is explained thoroughly in the project’s informed consent form, pre-enrollment study guide, and ongoing correspondence with participants.  Their advice to anyone in the PGP with residual concerns about being identifiable? To refrain from sharing ‘sensitive’ data with the PGP, or to withdraw what data they can from the protocol altogether.

On the surface, these suggestions make complete sense and are consistent with the PGP’s fidelity to the principles of veracity and respect for autonomy.  Yet their bottom line makes me uncomfortable.  It reminds me of a recent meeting I attended where Johns Hopkins bioethicist Jeffrey Kahn spoke to a group of communications researchers about the ethical issues raised by using Twitter API and other internet data in public health research.   Kahn’s suggestion that mining ‘anonymous’ Twitter data (which is stamped by time and location) for health-relevant content could be upsetting or even harmful to some Twitter users was met with a common rebuttal, loosely paraphrased as follows:  “If they don’t want it used, they shouldn’t have put it out there.”

To me, this sounded like the research ethics equivalent of being told I deserve to be catcalled for wearing a skirt in the street.

Obviously, the PGP is not trying to be the street, nor is it trying to be Twitter.  Given the PGP’s specific ethos and aims, some might argue that adopting a “we told you so” approach to informed consent is sufficient to advance the project’s research aims (though I suspect not, given my wholehearted faith in the PGP’s commitment to collecting reliable phenotype data and recruiting diverse participants, not to mention departing from the status quo in research ethics.)  To its credit, the PGP has welcomed the response to Sweeney’s re-identification demonstration as a teaching moment and is soliciting feedback about how to improve its communication with participants.  The PGP’s humility moves me to consider: What are the rest of us taking for granted about research participants’ long-term views regarding secondary uses of their personal data – ‘identifiable’ or otherwise?

In her own re-identification symposium post, Meyer highlights a number of concerns I share (in case I butcher them in what follows, I encourage readers to refer directly to her original words.)  Responding to Angrist’s question about why she remains in the PGP despite misgivings over Sweeney’s findings, Meyer draws an important distinction between a) assuming the risk of individual re-identification to advance biomedical research (which she authorized) and b) providing consent for third parties to use her data with the explicit goal of determining her identity (which she did not).  At the core of Meyer’s qualm is that “choosing to share personal information when asked is different than having that information taken from you without your permission or even knowledge” [emphasis mine].  Her point is that we shouldn’t have to choose ‘both’ or ‘neither’ to participate in genomic research.

The irony of this debate is that the PGP leadership has asked its discontents to withdraw data from the protocol to mitigate their concerns over the risks of being re-identified, when the breech Meyer refers to is one of trust and shared understanding about the purposes of donating her data to research.  Aren’t trust and understanding the very dimensions of the research-participant relationship the PGP seeks to preserve with its veracious approach to informed consent?  If so, this is a critical lesson for any of us involved in biomedical research at a time of impending (we think) regulatory reform.  If such misunderstandings can surface in a cohort of scientifically literate and motivated “genomic altruists” despite a rigorous informed consent process, what does this presage for other, less thoughtful research projects in an era of genomic identifiability?  It would suggest that reforming U.S. research ethics regulations to encourage the use of more ‘open’ informed consent protocols administered at a single time point would be insufficient to respect autonomy and voluntariness in research participation.  At best.

As a member of the ethics team for Genetic Alliance’s new Registry for All Diseases [Reg4All] I follow events like these with interest and concern.   Reg4All is committed to building an inclusive, accessible research repository while honoring heterogeneous privacy preferences and facilitating participants’ control over aspects of data-sharing that matter to them.  Like the PGP, Reg4All will evolve in response to the engagement and feedback of research participants.   In order to listen to them, we must know who they are.  But once we do know, we must REALLY listen.

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Saqqaq Confidential

An article in a recent issue of the journal Nature by a Danish-led international research team reported genomic sequencing of 4,000 year old permafrost-preserved human hair tufts from a man who belonged to the Arctic Saqqaq culture. The authors obtained remarkable information about the genetic constitution of Inuk – as he was named by the researchers, from the Inuit word for “person” – that provided insights into the genetic and migratory history of circumpolar populations.

The geneticist in me was fascinated by this paper. The authors suggest that the samples may have been the clipped hair that fell during a haircut. They calculated an admittedly speculative inbreeding co-efficient of 0.06, compatible with several ancestry scenarios, one of which is a first cousin mating. More than 300,000 SNPs provided information about his phenotypic traits such as hair color and earwax type but also susceptibility to diabetes, obesity, hypertension, Alzheimer disease, nicotine dependence, parkinsonism, and alcoholism. It’s the kind of research that makes you say “Gee whiz, it’s amazing what scientists can do.”

And then the nagging voice of my internal genetic counselor began pestering me with the questions “Do we have a right to know about this man’s genetic disease susceptibility? When does science trump a person’s right to privacy?”

I appreciate the scientific value of this information. There is no reason to believe that Inuk’s genetic information could be directly linked to his descendants.  Thus, no living person experienced psychological harm or a violation of privacy. One might even argue – with some Western hubris – that this research enhanced Inuk’s dignity since it contributed to our understanding of his people and culture.

On the other hand, we have clear-cut social and legal restrictions on privacy of medical information about living people. Some of what we learned about Inuk, such as his hair color or tooth shape, would have been obvious to his contemporaries and therefore does not compromise his privacy. However, Inuk’s genetic susceptibility to various diseases would not have been known by his coevals. Where do we draw the privacy line for deceased individuals?  Every culture has its taboos – what kind of personal information was considered privileged and confidential in Saqqaq culture?

It’s one thing when Beethoven asked his physician to study his body after death and to share the knowledge of his illness with the world or when the great English chemist John Dalton willed his color-blind eyes to science to advance the scientific understanding of deuteranopia. But would we have second thoughts about sharing the genetic disease susceptibilities of historically important people who may not have given such permission, like George Washington, Mark Twain, or Winston Churchill? What about celebrities like Michael Jackson? Is Inuk’s private information publicly available because of his anonymity or, more uncomfortably, because he was a member of a non-Western extinct culture?

The paper compared Inuk’s results with the DNA of Craig Venter and James Watson, but the latter two have intentionally made their genetic information widely available. Are DNA studies of the dead any different than studying disinterred bones for  clues to disease and biology? How do scientists distinguish themselves from resurrectionists and distance their practice from cranioklepty?  Is studying the DNA of the dead the scientific equivalent of sacra furta (the theft of saintly relics that was unofficially condoned by the Medieval Catholic Church)? How do we balance human dignity with the quest for scientific knowledge?

Should we allow public reporting of aggregate data on populations but only allow researchers with a legitimate scientific interest access to private information on a specific individual? Or are we contributing to the mythological aura surrounding DNA by insisting that genetic information is somehow more special and privileged than any other information about a person? After all, we live in a world shark-frenzied for intimate details about the sexual and personal lives of celebrities. DNA sequencing seems almost harmless in comparison.

I know, I know. I’ve posed many questions and no answers. But I am having a hard time answering them, so I am interested in what you think.

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Guest Post: Letter to the Editor, CNN

Suzanna Schott has been a prenatal and pediatric outreach genetic counselor in New Mexico for the last 4 years.  She was trained at JHU-NHGRI, and prior to that was a graphic designer in Atlanta, Georgia, her home town.  She is interested in representations of genetics in the media, and is a frequent writer of letters to the editor.

Ms. Elizabeth Cohen

Senior Medical Correspondent


Dear Ms. Cohen,

As a genetic counselor, it is my job to advocate for patients and families, help them interpret complex scientific information, consider the personal and ethical implications of genetic testing, and facilitate difficult medical decision-making.  I therefore appreciate your efforts to raise awareness of public health genetic screening practices and potential concerns about privacy and misuse (Elizabeth Cohen, “The government has your baby’s DNA,” cnn.com February 4, 2010.)  However, I was very concerned to see serious misinformation in your report about the nature of the screening and the potential risks involved.

I agree that parents have legitimate concerns about consent, privacy and potential misuse of testing samples.  Unfortunately, your report provided very few facts or evidence relevant to whether privacy violations and surreptitious testing have actually occurred.  Instead, your story sensationalized unrelated and unfounded concerns, which I am afraid will unduly influence families to avoid a test that can actually save lives.  Indeed, based on the online public comments, your article has left many readers ready to believe that every aspect of newborn screening is an illicit and irresponsible ploy by the government.  I must take issue with three assumptions in your report that I think led to these misunderstandings.

First, you suggest that newborn screening will identify children with diseases that would not otherwise be diagnosed, putting a permanent blemish in the medical record that could have been avoided.  Unfortunately, the fact is that the conditions detected on the newborn screen are typically so severe that even without newborn screening, an affected child would eventually require significant medical treatment resulting in the diagnosis in the medical record.  The problem with delaying diagnosis until symptoms appear is that it is often too late at that point for medical intervention to make a real difference. Babies with these conditions may appear healthy and normal at birth, while irreversible damage is silently occurring in the brain and other organs.

The second assumption that you make is that identification of these diseases puts children at risk for insurance or employment discrimination.  While genetic discrimination is a theoretical risk, I believe that your report grossly exaggerates this possibility.  Again, a diagnosis based on newborn screening is no more likely to result in discrimination than a diagnosis based on symptoms.  It is true that newborn screening can sometimes identify individuals who only carry a genetic difference associated with a disease, but are not affected with a disease.  Genetic carrier status has no effect on an individual’s long-term health and does not require treatment.  Therefore, carrier status does not cost an individual’s insurance company anything.  Nor does carrier status create any disability that would affect one’s performance at work.  Therefore the risk of insurance discrimination is very low, and in fact, actual cases of discrimination based on genetic testing results are very few and far between.

Nevertheless, there is a federal law called the Genetic Information Non-Discrimination Act (GINA) which prohibits health insurance and employment discrimination based on genetic information, and which your report entirely neglected to mention.  While there are limits to the protections provided by the law (see http://www.genome.gov/24519851 and http://www.dnapolicy.org/), GINA was specifically written to allow families to feel less afraid of having medically necessary genetic testing.  In addition, another federal law called the Health Insurance Portability and Accountability Act (HIPAA) provides strict controls on the types of medical information that can be shared with non-health care providers, including information related to newborn screening and residual samples.  If a parent truly feels that their child’s medical privacy rights have been violated by newborn screening protocols, there are outlets for reporting that (see http://www.hipaa.ihs.gov/index.cfm?module=faq).

Finally, the third concern I have with your report is the suggestion that the government will surreptitiously begin adding tests to the newborn screening for common conditions like mental illness or diabetes.  Again, in my opinion, your report greatly exaggerates this risk.  Many of us are frightened of science-fiction scenarios in which babies are genetically labeled and sorted.  However, the goal of newborn screening is early treatment, not eradication of genetic traits or labeling of adult onset disease.  Your readers may be relieved to know that there are very stringent criteria for inclusion of a condition on newborn screening panels.  Committees of medical and ethical experts have carefully considered how common a disease is, how severe it is, and whether early diagnosis and treatment will make any difference before including a condition on the test panel.  Your readers should know that much of the movement to implement newborn screening did not come from government bureaucrats, but from families who have witnessed first hand the difference that newborn screening can make.

Certainly, as a society we should be debating the uses of genetic technology, including what conditions are included on testing panels, who gets to decide, who has access to our genetic information and how is it used.  I also concede that we health care providers can be doing a better job to make sure parents fully understand newborn screening, ahead of time, and have the opportunity to opt out of both testing and storage of DNA.  But make no mistake, newborn screening has saved lives, reduced suffering, and contributed to genetic and public health research.  I believe that most thoughtful parents, armed with balanced and complete information, would agree that the benefits of newborn screening far outweigh the risks, to both their children and the community at large.

Your report would have been less alarming and more informative for your audience if it had included more facts and less speculation.  For future stories on genetics, I encourage you to utilize the professionals in the American College of Medical Genetics (see http://www.acmg.net) and the National Society of Genetic Counselors (see http://www.nsgc.org) to both deepen and broaden your discussion of the issues.


Suzanna Schott, ScM-LCGC

Licensed Certified Genetic Counselor

Albuquerque, New Mexico


Filed under Guest Blogger

Glenn Beck Hates Babies: Death Panels, Newborn Screening, Fox News and Me

 “You are from the Glenn Beck Show?” I asked. My voice betrayed what for lack of a nicer word might be called skepticism.

 “The Glenn Beck Show,” she answered, her tone sliding past defensive into a smug I-know-what-you-are-thinking defiance that reminded me wordlessly of Fox News’ Nielsen dominance.  “We were wondering if you would like to come on the air tonight, to discuss newborn screening.  We are interviewing a woman who is suing the state of Minnesota for taking her child’s DNA without parental consent.  We were told you might provide some expertise on the issue.”

A quick succession of questions went through my head.  What was something as routine as newborn screening doing on the Glenn Beck Show?  What expertise were they looking for from me?  I reviewed what I knew on the subject.  Our system — a hodgepodge of opt-in and opt-out, implied consent and presumed consent – state-by-state regulations put in place in a simpler era, when newborn screening meant looking for PKU and a handful of other conditions.  It was not a system designed to handle today’s complex screening panels, and certainly not the use of newborn screening samples for research on genetic disease, birth defects, environmental exposures, chromosome studies and the like.  The topic interested me.  Being on television interested me.  Could I say yes?  Absolutely not, I told myself sternly.  This was Glenn Beck.  Who knew what crazy angle they would take?  There might be shouting.  What if he cried?  What on earth would I do if he cried?

 “Yes,” I said.  “I would be happy to.”

I was in New York, she noted, so I could come in and sit with Glenn in the studio.  With Glenn.  We were on a first name basis now, me and Glen.  Oh dear, I thought – or perhaps it was some other four letter word starting with ”sh”.  I poked around on the internet, searching for a few salient facts.  Minnesota tested for 53 conditions, 24 more than the 29 “core conditions” the ACMG designated top candidates for newborn screening.  The state permitted the use of newborn screening blood spots for research, usually de-identifying the samples first.  If you had a child in Minnesota, his or her DNA might be used to check the incidence of CMV infection, or the feasibility of newborn screening for Wilson’s Disease.  There was a study of mercury exposure.

I barely had time to break into a cold sweat in my closet when the producer from the Glenn Beck Show called back.  “Change of plans,” she said.  “We’re going in a different direction.”  A different direction — I was no longer needed.  They liked some other expert better.  I felt that peculiar pang you feel when people you despise and disdain don’t love you.  It was like junior high school all over again.

 And then I watched the show, which is to say there’s a first time for everything.  They hadn’t booked another expert in place of me (my heart gave a small, involuntary leap).  They had booked instead a state senator from Texas who was so completely insane that he made Glenn look reasonable by comparison.  The government was using newborn screening as an excuse to take DNA from children, the senator said.  That’s right, Glenn agreed.  It was like Nazi Germany, the senator insisted.  It could be, Glenn agreed.  Soon there would be concentration camps for people whose DNA the government found inferior.  Glenn tilted his head, like he couldn’t quite get his brain around that.  Probably not, he said, after a significant pause.

 Now I understood why I had been dis-invited for this crazifest.  They didn’t reject my expertise – they rejected all expertise.  Expertise was problematic in that facts could not be relied upon to support the narrative.  This wasn’t a story about newborn screening; it was a story about  government power encroaching on individual liberties.  The woman from Minnesota, a petulant but mild-mannered soul who had some good points to make about the actual risks of amassing a DNA database without proper consent – a practice confined to newborn babies and convicted felons – but she was left in the dust, unable to take the necessary next step of contextualizing newborn screening in the socialization of the American healthcare system.

 Complex issues are always at risk of being misused by in the service of a simple story that feeds into existing fears and beliefs.  The more complex the issue, the easier it is to cherry-pick facts to provide ersatz credibility.  In recent attacks on newborn screening, the underlying narrative is fear of big government, as illustrated by a CNN story last week titled: “The Government Has Your Baby’s DNA.”  Against all odds, this is actually a decent, balanced article – but if that headline doesn’t make you crazy, try reading the comments, several of which suggest that newborn screening is an invention of the Obama administration or a 21st century incarnation of Big Brother.  Death panels for the Headstart crowd.

 I applaud the spirit of the many genetic counselors who immediately looked to respond to the CNN article (No one said boo about the Glen Beck Show; was I the only one watching?).  Still, I think it is important to look at two key points before formulating any response:

1. Keep in mind the narrative.  Most people cannot be expected to care that much about newborn screening except as it fits into a larger context.  The fact that you are anxious to educate them does not mean that they wish to be educated.  Therefore, if the narrative is about a government power grab (and it is), then it probably won’t help to tell people that HIPPA and GINA will keep their babies safe.  I’m guessing that they will not take comfort in knowing that Washington has created two new acronyms to safeguard their children’s DNA. 

Ignoring the narrative is one big reason why the well-intentioned and well-informed have spent years dumbfounded by the intransigence of parents who continue to believe that vaccines do not cause autism.  I know it is hard to accept, but it just doesn’t help to offer someone the gold standard of peer-reviewed science when their meta-narrative is about how the medical establishment has been corrupted by for-profit entities.

 You can’t tell people whose fundamental issue is that they don’t trust the government that they don’t have to worry because the government will take care of anything.  What other options do we have?  Let’s try to remember that this is not about government rights; it is about baby’s rights.  The message has to be that every baby has a RIGHT to newborn screening.  We can’t get sidetracked into defending the will of the government to defend privacy and autonomy.

2. The narrative doesn’t just obscure the facts from those who believe it; it obscures the facts from those who despise it.  Let’s not lose track of all the valid concerns that have been raised by parents who object to a lack of education and consent in the use of newborn screening samples.  As much as we would like to insure parents that a database of blood samples would never be misused, it’s a fool’s business making promises.  The only sure thing about predictions is that some of them will be wrong.  No one anticipated the development of an algorithim that could match DNA samples to individuals within pooled DNA in GWAS, which sent government agencies scrambling to rewrite the rules for use of supposedly anonymous DNA registries.  No one anticipated that a teenage British boy conceived by sperm donation would be able to use ancestry testing designed for genealogy buffs combined with a few rudimentary facts like date of birth to find his donor dad.

 All other innovations in genetic services require vigilance and thoughtfulness.  But it is worth the effort, because every baby has a right to newborn screening.  We can’t sacrifice the possible to the paranoid, because that would be shortchanging America’s children.  That’s what I would have told Glenn Beck.  I might even have cried.


Filed under Laura Hercher