Genome Sequencing - III: Presidential Commission for the Study of Bioethical Issues Meeting 8, February 2, 2012 (cont.)

Meeting 8 Session 4: Privacy III – Law Enforcement Use and Access to Genomic Information
Transcript 

Melissa Mourges, J.D.

Melissa Mourges, J.D., Assistant District Attorney, Chief, Forensic Sciences/Cold Case Unit, New York County District Attorney's Office works in the Manhattan DA's Office, the setting of the TV show Law and Order.  She gave a rapid survey of the progression of collection of crime evidence, from the old days of using sterile swabs taken from the victim’s body, to the forensic database CODIS, the Combined DNA Index System, that allows identification of a 13-marker DNA “signature” sample taken and amplified from a very small saliva, blood or semen crime-scene stain and matching with DNA obtained from the suspect. A FAQ on how it works is here. 


She went on to say that in 15 years use of the CODIS database has expanded from  rape and homicide cases to property crimes – now amounting to over half of the 10,000 samples collected in New York City each year.  She described a typical case in which a burglar who left behind a Starbucks cup with a saliva stain was convicted by a DNA match with a probability of error of “one in greater than a trillion.”


From the point of view of privacy, she stated that “Forensic DNA typing looks only at the areas of DNA that do not code for any known trait or characteristic, so-called junk DNA…”  New York and other states also have laws about “de-identifying” the data by using bar codes, and prohibiting release of the data for “anything other than law enforcement purposes.”


However, what she did not say was that in an era of whole-genome sequencing it is becoming more evident that so-called “junk DNA” may actually have a purpose that one day will be discovered – as research is increasingly showing that causes of diseases, conditions or traits are multi-factorial gene combinations rather than a single gene.



Pilar Ossorio, J.D., Ph.D., Associate Professor of Law and Bioethics, University of Wisconsin-Madison set the use of forensic genomics evidence in a wider context by pointing out that government and private sector surveillance capacity is expanding in many different ways. 

Pilar Ossorio, J.D., Ph.D.

She went on to describe “law enforcement efforts to generate phenotype profiles based on genotyping of crime scene samples.”  The goal is to come up with an image of what the suspect might look like, but she pointed out that not only can gender and ancestry be readily determined, but also “…there is nothing actually to prevent law enforcement from explicitly attempting to find medical information in genetic material left at a crime scene.”


She gave the example of genetic analysis revealing that a possible suspect had an illness that required specific medications or a condition like sickle-cell anemia, which could lead police to look in pharmacies or pain clinics for the person.  Also, the biological materials left at the crime scene may not actually have come from a suspect, Ossorio cautioned.


She cited the case of United States v. Jones, where the court ruled that the Fourth Amendment prevents warrantless use of a GPS tracker to map a suspect’s whereabouts.  The police did have a 10-day warrant, but it had expired by the time they installed the tracker, and it was used in a different jurisdiction as well.


Ossorio observed “…neither our privacy jurisprudence nor our bioethics scholarship, I think, adequately addresses the distinction between privacy and anonymity…” and that surveillance technologies “…are getting rid of our opportunities for anonymity in any place outside of our homes.”  


She concluded “So, courts have held that, you know, looking at someone's biological material is like looking at something discarded, that the person has no privacy interest and no Fourth Amendment interest in that biological material once it is outside of your body and outside of your private property, like your home or your deck on the back of your house.”

Amy Gutmann, Ph.D. Commission Chair

Meeting 8 Session 5: Roundtable
Transcript



After presenting papers on ethical issues with whole genome sequencing, the meeting participants were given the opportunity to respond to one another.  Here are some highlights:

• “…that we do not find a balance that maintains…whatever the privacy boundaries are that we want to maintain, with the capacity of whole genome sequencing to let us actually start tying traits and gene variation.” (John Wilbanks, on the growing capability of the technology to drill down to specific, individual genetic characteristics)
• “…what we need to do is make [privacy concerns] more nuanced and allow individuals to have a say about the way in which whole genomes are used or who has access to them.” (Jane Kaye)
• “…that the clinical utility at this point will not outweigh the privacy risks to individuals, both from their psychological response and also to what third parties might do, based on the information that they could obtain.” (Mark Rothstein)
• “…the more we look at genes, the less we're going to look at the whole person and the less we're going to take that person's whole life into account, and I think that is a big problem, for privacy, but for just basic control over your life.” (George Annas)
• “…that we have used anonymity as the way to protect research participants from informational harms for the last 50 or 100 years, at least since the Common Rule went into effect, and we're not taking seriously the fact that we really are having decreasing amounts of anonymity and a decreasing ability to promise that to people, and we're not developing in creative ways alternative governance structures that would protect people and minimize harms, when we can't actually promise them anonymity.“ (Pilar Ossorio)
• “…I think knowledge is power, and I would hate to give up the knowledge that you can gain through this project, and I think that we figured out how to do it with forensic DNA databasing…” (Melissa Mourges)
• “…metaphorically, your genome has been called the book of humanity, and if it is, then it's a book that we only understand perhaps one-third of the words.  We can barely speak a single sentence and not even so much as one full paragraph.  And so that is where we stand, with the understanding of the incomplete genome and of biological science and health and disease.  So, my major concern would be that privacy not materially inhibit the rapidity with which we can de-code that book and understand what it means.” (Daniel Masys)
• “…a lack of the right infrastructure and process to advance genetic literacy and genomic literacy as ubiquitously as we possibly can.” (Richard Gibbs)
• “…I think that information is a good thing and I think that it's a good thing that can be used in diagnosing a rare disease.  I think that it's something that should be shared in a broader format…” (Retta Beery)

Further issues that came up in the ensuing discussion included:

• Pediatric genomic data: “…whether parents have the authority to authorize their children to be screened for … late-onset disorders,” e.g. BRCA1 and BRCA2  Now whole-genome sequencing will show such data, where before it required a separate test, and was not done until adulthood. (George Annas).
• Along with that, the question of consent by the child once he/she becomes an adult, to the use of their childhood biobank data in future research. (Daniel Masys).
• The fact of greater use of whole-genome sequencing and genetic research being done in majority vs. minority populations – will that further disadvantage healthcare for the minority groups? (Daniel Masys).
• “I wouldn’t post my 23andMe on the Internet, and I’m reasonably literate in this area, and so, it turns out though that I think my ignorance is much larger than my knowledge, and so, the reason I wouldn’t publicly post that is the unintended consequences of the reuse of that, 10 years from now or 20 years from now, because we just don’t know enough.” (John Wilbanks)

Flash videos of all sessions of Meeting 8

The Ethical Issues Inherited by Evolutionary Genomics

When the draft sequence of the human genome was published in 2001, significant attention was paid to repeat sequences that "...constitute a rich paleontological record, holding crucial clues about evolutionary events and forces..." such as "...the unusual evolutionary history of chromosome Y."   


In 2003, the U.S. National Human Genome Research Institute's vision for the future of genome research included Grand Challenge I-4 that called for "understanding evolutionary variation across species and the mechanisms underlying it.”  As the ability to sequence genomes became easier and cheaper, researchers collaborated on cataloging extensive maps of human variation as part of the 1000 Genomes Project and the International HapMap Project, "…providing the necessary raw material for human evolutionary genomics to operate."

After  reviewing a decade of research in the field of evolutionary genomics, Vitti et al. find that it “..stands at the intersection of two sensitive topics that are widely misunderstood in their own right: evolution and genetics.” In recognition of this need for clarity, their review begins with a glossary of essential terms for discussing the intersection of these two fields such as genetic determinism, genetic reductionism, and genetic drift.

Historically, advances in evolutionary science and genetics "…have been misapplied to provide justification for unethical practices."  When Herbert Spencer devoted a section of his Principles of Biology [1864] to the "survival of the fittest,” the stage was set for evolution to be conceived of as a progressive and teleological force rather than as the "blind process" that it is.  The authors recall the “…now-infamous [1854]  depiction [from Nott and Gliddon’s Types of Mankind] of the heads and skulls of a chimpanzee, an African male and the god Apollo” used over the years to justify racism and social Darwinism.

As an example of the effects of this “dark history” on current research, the authors refer to recent studies of brain size determinants by Mekel-Bobrov et al. and Evans et al. that have provoked both critical and racist responses.

The authors recommend that researchers "…be responsible for devising ‘ethically self-aware research agendas’ to foster ‘interpretative rigor’” and to prevent research findings from “…being warped towards harmful ends.” Such an agenda would consist of three components: methodological rigor, cautious scientific reporting, and educational leadership in the public discourse of science.  

To determine “what counts as evidence” in a rigorous way, the authors refer to J. M. Akey’s review of research methods for examining alternate hypotheses and conducting follow-up studies, and cite a PLoS Biology’s editors’ proposal that researchers augment any claim for positive selection by combining the sequence data analysis with other experimental evidence.

Being cautious when reporting study results includes emphasizing the study’s limitations and explaining the conclusions “…in language that is precise and accessible to a lay audience.”  To avoid the common problem of correlation being mistaken for causation, the authors suggest depicting the genome as a recipe rather than as a blueprint for an organism.

To enhance public understanding of biological concepts, the authors propose that researchers be proactive and organize forums to discuss their research findings so that they can “…address misconceptions head-on.”

The authors conclude by suggesting that the pitfalls of evolutionary genomics can be avoided by researchers holding their “…projects at arm’s length and [examining] the genuine ethical dilemmas they inspire.” 

Akey, Joshua M. Constructing Genomic Maps of Positive Selection in Humans: Where Do We Go from Here?  Genome Research 19(5):711-22, May 2009. doi: 10.1101/gr.086652.108

Collins, Francis S.; Green, Eric D.; Guttmacher, Alan E.; and Guyer, Mark S. A Vision for the Future of Genomics Research: A Blueprint for the Genomic Era. Nature 422(6934): 835-847, April 24, 2003.

Evans, Patrick D.; Gilbert, Sandra L.; Mekel-Bobrov, Nitzan;  Vallender, 
Eric J.;  Anderson, Jeffrey R.; Vaez-Azizi, Leila M.; Tishkoff, Sarah A.; 
Hudson, Richard R.; and  Lahn, Bruce T. Microcephalin, a Gene 
Regulating Brain Size, Continues to Evolve Adaptively in Humans.

Science 309(5741):1717-20, September 9, 2005. doi: 10.1126/science.1113722.

International Human Genome Sequencing Consortium. Initial Sequencing and Analysis of the Human Genome. Nature 409(6822): 860-921, February 15, 2001. doi:10.1038/35057062.

MacCallum, Catriona, and Hill, Emma. Being Positive about Selection. PLoS Biology 4(3): e87, March 14, 2006.  doi: 10.1371/journal.pbio.0040087.

Mekel-Bobrov, Nitzan; Gilbert, Sandra L; Evans, Patrick D.; Vallender, Eric J.;  Anderson, Jeffrey R.; Hudson, Richard R.; Tishkoff, Sarah A.; and Lahn, Bruce T. Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens Science 309(5741): 1720-2, September 9, 2005. doi: 10.1126/science.1116815.

Nott, Josiah Clark, and Gliddon, George R. Types of Mankind. 
Philadelphia: Lippincott, 1854.

Spencer, Herbert.  The Principles of Biology. London: Williams and  Norgate, 1864. 

[The discussion of “survival of the fittest” begins on page 444 of this digital version at Bayerische StaatsBibliothek (The Bavarian State Library). Click on the three red bars in the upper left-hand corner to advance a page. To download a .pdf file of the book, go here, click on "Ja" and "Weiter" and then click on the highlighted PDF file]

Vitti, Joseph J.; Cho, Mildred K.; Tishkoff, Sarah A.; and Sabeti, Pardis C.  Human Evolutionary Genomics: Ethical and Interpretive Issues. Trends in Genetics: TIG 28(3):137-45, March 2012.  doi: 10.1016/j.tig.2011.12.001