Tag Archives: disease

CODIS Loci Not Ready for Disease Prediction After All?

Last month, I noted the findings of a superior court in Vermont that “some of the CODIS loci have associations with identifiable serious medical conditions,” making the scientific evidence “sufficient to overcome the previously held belief[s]” about the innocuous nature of the CODIS loci [1]. The judge based her conclusion in State v. Abernathy [2] that the CODIS loci now permit “probabilistic predictions of disease” on the unpublished views of biologist Greg Wray, who oversees the Center for Evolutionary Genomics and the DNA Sequencing Core Facility, within Duke University’s Institute for Genome Sciences and Policy.

A technical report accepted for publication in the Journal of Forensic Sciences seems to dispute these claims. Sara Katsanis, a staff researcher at Duke’s same Institute for Genome Sciences and Policy, and Jennifer Wagner, a postdoc at the University of Pennsylvania’s Center for the Integration of Genetic Healthcare Technologies, searched the biomedical literature and genomic databases not only for associations with phenotypes in the current 13 loci used in offender databases, but also in ones that soon may be added to the system. They came up with “no evidence” that any particular CODIS single-locus STR genotypes “are indicative of phenotype.”


1. CODIS Loci Ready for Disease Prediction, Vermont Court Says, June 15, 2012.
2. State v. Abernathy, No. 3599-9-11 (Vt. Super. Ct. June 1, 2012).

Cross-posted to Forensic Science, Statistics, and Law Blog

Foolishness in Akron Raises a Serious Question about GINA

The University of Akron recently reserved the right to demand DNA samples from applicants for certain jobs (Jaschik 2009, McCullagh 2009). The relevant portion of its policy reads as follows:

Certain positions at the university of Akron, if required by law or contract, will be subject to both state of Ohio and federal criminal background checks regardless of how long the preferred candidate has resided in Ohio. Further, at discretion of the university of Akron, any applicant may be asked to submit fingerprints or DNA sample for purpose of a federal criminal background check (University of Akron 2009).

Initial reaction has been predictably negative. One adjunct faculty member — who was not asked for any DNA — quit teaching his class in the middle of the semester to show his students “that there are principles worth fighting for.” He is “considering filing for a temporary restraining order to keep the university from implementing this.” (McCullagh 2009).

The thought that a court would grant an extraordinary remedy, based on a finding of imminent, irreparable injury, for an action that has not occurred, is not planned, and probably never will come to pass, is absurd. At the same time, the university’s new policy statement is ludicrous. A spokeswoman for the university tried to justify it on the ground that “there have been national discussions that indicate that in the future, reliance on fingerprinting will diminish and DNA for criminal identification will be the more prominent technology. By including it in the policy we have the flexibility to match the technology if the Ohio State Highway Patrol makes changes to its system.” (Id.)

It is extremely improbable that law enforcement agencies will abandon fingerprinting as the routine form of identification. Fingerprint examination is superior to DNA typing for distinguishing among individuals. DNA profiling for identification does not distinguish between monozygotic twins (a situation that occurs in about 4 out of every 1000 births), and digital scanning and comparison of fingerprints is only getting better. Moreover, if and when DNA typing were to replace fingerprinting, the university could revise its requirements. There is no plausible reason to adopt the policy in advance of the hypothetical change, especially when the university does not do criminal background checks on existing employees. (Id.)

Although the University of Akron’s ostensible reason to collect DNA from its present or prospective employees is nonsense, some enterprises have more a serious interest in some of their employees’ DNA. A laboratory that does forensic DNA typing, for instance, might wish to build a database of its employees’ profiles so that it, the police, prosecutors, and judges and juries can be assured that the DNA profiles reported out by laboratory are free of any effects of contamination from the employees’ DNA. An extreme example of this kind of problem comes from “the Phantom of Heilbronn.” (Himmelreich 2009). Police in Germany linked DNA evidence from 40 crimes — including the homicide of a policewoman in the southern German town of Heilbronn — to the same woman. It turned out that the mysteriously prevalent DNA profile was that of a worker at a factory in Austria that produced the cotton swabs that the police used to obtain DNA samples at crime scenes. (Id.)

Other employers besides laboratories and their suppliers may have plausible reasons to acquire DNA identification profiles from selected employees. New York City already requires police officers who handle crime-scene materials to provide DNA samples. Beyond identification for elimination purposes, forensic DNA analysis of employees could be useful when internal investigations of theft or sexual conduct on company property produce traces of DNA samples at the locations in question.

Although the University of Akron’s policy seems silly, it provoked discussion of the somewhat ill-defined scope of a statute that the late Senator Edward Kennedy hailed as “the first major new civil rights bill of the new century of life sciences.” (Aldhous 2008).  According to CBS News, “the policy . . . appears to violate a federal law . . . called the Genetic Information Nondiscrimination Act, better known as GINA.” (McCullagh 2009). Susannah Baruch, an attorney and consultant for Johns Hopkins University’s Genetics and Public Policy Center, opined that:

GINA clearly prohibits the collection of a DNA sample from employees or prospective employees by the University of Akron. One of the primary targets for GINA was employers collecting genetic information from employers and using it to make decisions about hiring and firing and promotions. It’s that kind of discrimination that GINA was designed to prohibit. (Id.)

But is an employer’s use of the DNA loci whose variations are recorded in criminal-offender databases — loci that have no significant predictive or diagnostic medical applications (Kaye 2007) — really the “kind of discrimination that GINA was designed to prohibit.”  Was GINA designed to foreclose all the possible uses of DNA samples strictly for identification?  The Act is concerned with medical, not biometric, information. Section 2 explains that Congress was worried about “[n]ew knowledge about the genetic basis of illness [allowing] for earlier detection of illnesses, often before symptoms have begun, [thus giving] rise to the potential misuse of genetic information to discriminate in health insurance and employment.” The examples of discrimination in the Congressional findings offered to justify the statute are “sterilization laws by the States based on early genetic science,” actions taken against individuals with an allele for sickle cell anemia, and more recent cases in which employers allegedly performed genetic tests on employees relating to specific medical conditions. Thus, the stated objective of GINA is to establish “a national and uniform basic standard . . . to fully protect the public from discrimination and allay their concerns about the potential for discrimination, thereby allowing individuals to take advantage of genetic testing, technologies, research, and new therapies.” � 2(5).

At first blush, it might be hard to imagine how the Akron policy would discourage individuals from seeking appropriate medical care or volunteering for genetic research. It is possible, however, that potential employees might worry that if the university has samples of their DNA, it might use them — not for criminal background checks — but for excluding them on the basis of genetic tests that indicate increased risk for certain diseases. Although this is not what the University of Akron is doing or contemplating, and even though it makes little sense to distinguish between using genetic and nongenetic information in employment decisions, as GINA attempts to (Rothstein 2008), at least it is the kind of “discrimination” that “GINA was designed to prohibit.”

As a result, the question becomes whether Congress chose to ban, as a prophylactic measure, the collection of tissue samples from job applicants because of the risk that an employer might engage in the forbidden “discrimination.” This issue is, I think, rather more subtle than the news reports so far have implied.  Arguably, the DNA profiles commonly used for identification purposes do not involves the tests of “mutations, genotypes, and chromosomal changes” that the Act defines as “genetic information.” Furthermore, even if one concludes that GINA does apply to all identification profiles (as it probably does), then the exceptions it creates to its ban of an employer’s acquisition of genetic information are insufficient to meet the legitimate needs of employers.  I hope to develop these initial ideas more fully later.


Thanks to Marie T. Reilly for calling the University of Akron policy to my attention.


Peter Aldhous, US Outlaws Genetic Discrimination , New Scientist, Apr. 28, 2008, http://www.newscientist.com/article/dn13785-us-outlaws-genetic-discrimination.html

Genetic Information Nondiscrimination Act of 2008,  Pub. L. 110-233, 42 U.S.C. 2000ff et. seq. http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493:@@@L&summ2=m&

Claudia Himmelreich, Germany’s Phantom Serial Killer: A DNA Blunder, Time Mag., Mar. 27, 2009, http://www.time.com/time/world/article/0,8599,1888126,00.html]

Scott Jaschik, DNA Swab for Your Job, Inside Higher Education, Oct. 29, 2009, http://www.insidehighered.com/news/2009/10/29/akron

Declan McCullagh, Want A Job In Akron? Hand Over Your DNA, Oct. 28, 2009, http://www.cbsnews.com/blogs/2009/10/28/taking_liberties/entry5438012.shtml

David H. Kaye, Please, Let’s Bury the Junk: The CODIS Loci and the Revelation of Private Information, 102 Nw. U. L. Rev. Colloquy 70 (2007), http://www.law.northwestern.edu/lawreview/colloquy/2007/25/

David H. Kaye, Mopping Up After Coming Clean About “Junk DNA”, Nov. 23, 2007, http://ssrn.com/abstract=1032094

Mark A. Rothstein, GINA, the ADA, and Genetic Discrimination in Employment,
36 J. L., Med. & Ethics, No. 4 (2008)

University of Akron, http://www.uakron.edu/ogc/docs/11-22_8-5-09.pdf, visited Oct. 29, 2009