Lindsey Vickers

Professor Dryer

Privacy in a Digital Age

May 2 2014

Can Genetic Databases and Privacy Co-exist?

Relatively recent advances in science and technology have challenged our ability to

protect personal information. In just over 50 years, scientists have been able to decode the recipe

for life, DNA, as well as the methods and tests that decipher individual genetic information. The

use of DNA evidence is a powerful scientific development that has allowed for advancements in

forensics, medicine, and in determining ancestry. The combination of cataloguing and comparing

DNA information presents one of the latest and most complex challenges in protecting personal

privacy and information. This paper gives a brief history of the forensic use of DNA and

discusses some of the privacy concerns related to expanding DNA databases.

I. History of the Forensic Use of DNA

In 1953, James Watson and Francis Crick, graduate students at Cambridge University,

discovered the structure of deoxyribonucleic acid, or DNA, the molecule responsible for our

physical and behavioral traits (Cambridge MRC Laboratory). It took scientists another 50 years

to completely sequence the human genome, ordering three billion As, Ts, Cs, and Gs (DNA-

nucleotides) to finally decode the DNA alphabet (National Human Genome Research Institute

“Extramural Research”). The human genome is comprised of 23 chromosomes and an estimated

25,000 genes (National Human Genome Research Institute “Abnormalities”). Human cells have

a total of 46 chromosomes, but a complete genome consists of one set, or 23 chromosomes, since

the second set is complementary (National Human Genome Research Institute “Project

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Completion”). Sequencing the genome involved deciphering the order of DNA nucleotides for

one set of 23 chromosomes, with samples taken from six different individuals. In 2003 the

genome sequence was finally published and made available to scientists around the world via the

Internet, creating hundreds of new possibilities for the fields of science, forensics, and medicine.

Having the entire sequence is akin to “having all the pages of a manual needed to make the

human body” (National Human Genome Research Institute “Project Completion”).

DNA databases are used to catalogue, store, and compare individual genetic information.

Many of these databases hold genetic data for thousands, and sometimes tens of thousands, of

individuals. It is worth noting that evaluating segments of the DNA sequence and storing this

information in DNA databases pre-dates sequencing the human genome. Forensic scientists

created the first DNA fingerprint in 1984, but the human genome sequence was not published

until 2003 (Encyclopaedia Britannica; National Human Genome Research Institute “Project

Completion”). The insight provided by the human genome sequence expanded options for DNA

use in forensics and opened the door to new medical and commercial applications. Early DNA

databases only stored the profiles of convicted sex offenders. Today, in some states, databases

have expanded to include profiles from convicted felons as well as from arrestees (Hibbert). As

the equipment and resources needed for DNA analysis have become more readily available and

affordable, the range of information that can be garnered from the DNA molecule has also

grown.

In a 1987 criminal investigation DNA evidence was used for the first time (Crenson). The

evidence allowed officials to link a series of rapes to Tommie Lee Andrews (Crenson). Andrews’

case was only a precursor to the forensic technologies to come, including the use of DNA

databases. Initially, DNA profiling and options for creating a database to catalogue genetic

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information were limited due to variable methods of analysis and inconsistencies in cataloguing

and comparing genetic data. Distinguishing individuals from one another was another difficulty

in the early days of DNA analysis, as the human DNA sequence differs by less than 2% (Ritter).

In response to these challenges, the Combined DNA Index System, or CODIS, was created and

piloted by the Federal Bureau of Investigation (FBI) in 1990 (Marpuri). The CODIS mapped the

location of 13 loci that are unlikely to be exactly the same for any two individuals (Norrgard).

These loci, or specific chromosome locations, which are also referred to as DNA markers, are

critical to creating DNA profiles (otherwise known as a DNA fingerprints) and can reveal DNA

sequence differences and/or similarities with a high degree of certainty (Federal Bureau of

Investigation Laboratory Services). During the pilot period, the CODIS software was only used

in “12 state and local forensic laboratories” (Adams). Initially the system allowed officials to

gather DNA from convicted offenders in order to form profiles, which were then stored in a

database and used to solve crimes where there were no suspects (Adams). A few years later, in

1994, the DNA Identification Act was passed. This act gives the FBI the authority needed to

utilize the CODIS to establish and index DNA records from those convicted of certain crimes,

and to analyze and catalogue DNA samples from unsolved crime scenes and/or unidentified

persons (U.S. DOJ Office of the Inspector General).

DNA evidence was used in the years following Andrews’ case, but the national database

did not become well known until the controversial conviction of the “Grim Sleeper.” The Los

Angeles Weekly nicknamed the murderer after his first killing spree ceased, only to resume a

number of years later (McCarthy). The Grim Sleeper traumatized residents of Los Angeles,

California for over two decades (Steinhauer). From 1985 to 1988, six women were shot and

killed with the same 0.25 caliber semiautomatic pistol (McCarthy). The first few murders

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appeared unrelated, but eventually officials began identifying a pattern that connected the crimes.

For a period of 14 years, from 1988-2002, the killings stopped until three new murders occurred,

in 2002, and 2003, and then another 2007 (McCarthy). Given the lack of leads and dead ends in

the investigation, it appeared the Grim Sleeper would never be found. This may have been the

case if not for DNA evidence and testing.

Officials were unable to identify and arrest the Grim Sleeper until a familial search of the

DNA database detected similarities between an arrestee’s DNA and samples taken from the

scenes of the Grim Sleeper murders. At the time, California law enforcement officials were only

permitted to take DNA from individuals with felony convictions (Simon). In 2010, a novel

source of data would provide the lead that ultimately solved the case. When a relative of Lonnie

David Franklin Jr., the man who was ultimately identified as the Grim Sleeper, was convicted for

unlawful possession of a weapon his DNA was sampled and entered into California’s database of

unsolved crimes. Computer analysis flagged this sample as similar to DNA evidence gathered

from the Grim Sleeper murders. These similarities indicated a high likelihood that the arrestee

and serial killer were related. It was the smoking gun that would eventually lead investigators to

Franklin Jr. (Simon). However, before any arrest could occur, police investigators needed to

acquire a DNA sample directly from Franklin Jr. His DNA was collected by an undercover

police officer that posed as a busboy in order to gather a sample of saliva from the napkins and a

cup that Franklin had discarded while dining at a restaurant in his neighborhood (Dave). The

sample was analyzed and compared to the DNA taken from the crime scenes. The DNA profiles

revealed a definitive match (Dave). Lonnie David Franklin Jr. was subsequently arrested and

taken into custody. After the arrest, Franklin’s public defender argued that this method of DNA

collection was a violation of rights guaranteed by the Fourth Amendment, which prohibits

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unreasonable searches and seizures of U.S. citizens. The defender claimed Franklin had a

reasonable expectation that his used napkins and cup would not be treated differently than any

other individual dining in a restaurant (Dave). However, when the case went to court, it was

ruled that the DNA had been lawfully obtained (Dave).

Today, every state in the U.S. has a DNA database of genetic information from those

convicted of serious crimes, and some states take DNA samples from those arrested for any

felony; the DNA is obtained by collecting cells through a cheek swab (Ross). The samples can

then be checked against the national DNA database of information from unsolved crimes (CBS

News). Those opposed to genetic databases argue that forensic DNA testing threatens the

presumption of innocence, and conflicts with the principle that you are “innocent until proven

guilty.” DNA analysis and the use of DNA databases in forensics is only one of many perceived

threats from cataloguing DNA information. Despite flying under the radar, DNA databases are

among the greatest threats to the privacy of people living in the 21st century.

II. Privacy Concerns Related to DNA Databases

Some maintain that DNA fingerprinting is akin to traditional fingerprinting methods (The

Tech Museum of Innovation). Every individual has unique differences in their genetic code and

in the patterns that define their digital fingerprints. Both of these unique personal characteristics

can be used as identification tools in forensic investigations, but any similarities between the two

end there. As new technologies are developed, we will be able to learn increasingly more about

an individual from a single DNA sample (Ross). Even now, DNA reveals much more than a

simple fingerprint. Unlike normal fingerprints, DNA can provide information on a number of

genetic diseases, as well as personality, and physical traits (Silverman). DNA “is inherited in a

far more consistent way [than fingerprints]. It shows who’s related to whom—something a

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standard fingerprint could never reveal” (Ross). Although DNA technologies have become more

common, broad usage has been limited by cost and efficiency. Recent research efforts have

dramatically helped to lessen the impact of these limitations, and in the future it is likely we will

be able to “generate more detailed profiles more quickly” (Ross).

In the context of forensic sciences, DNA’s potential to reveal specific details about an

individual’s physical appearance is extremely important. DNA can provide information about a

person’s biological sex, hair and eye color, height, nose shape, whether a person has dimples,

and even if they are prone to obesity (Randerson; Silverman). Scientists from Pennsylvania State

University recently published an article that discusses the development of a computer program

capable of creating a digital mugshot from DNA samples taken from a crime scene. If this

system proves effective, it will be a far departure from flawed eyewitness recall and artist

renderings (Claes et. al; Reardon). The potential to generate DNA mugshots is only one

demonstration of just how much can be learned from our DNA. Privacy concerns associated with

genetic data do not end there. The sections below explore some additional privacy issues

associated with amassing large DNA databases.

A. Function Creep

One concern that arises with nearly all technological advances, especially those

concerning privacy, is function creep, or the creation of a technology with one purpose in mind

and its unforeseen expansion into other areas. This certainly applies to DNA databases as the

applications for their contents could easily expand beyond their intended uses. In a press release

from the late 90’s, the American Civil Liberties Union, or ACLU, claimed “We are already

beginning to see function creep in DNA databases… We have gone from collecting DNA from

convicted sex offenders to… creating banks of all violent offenders, of all persons convicted of a

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crime, of juvenile offenders in 29 states, and now to proposals to DNA test all arrestees”

(American Civil Liberties Union). This press release did not reveal all of the implications and

legal issues that emerged following the publication of the human genome sequence, which

provided scientists with an even better understanding of the DNA molecule.

In an effort to narrow suspect pools, new DNA testing techniques have emerged. In

Britain, this has led to the use of DNA characteristics that can supposedly narrow a suspect’s

racial origins (Cho and Sankar). These new methods can align a suspect’s race with as few as

one or two ethnic groups (Cho and Sankar). Given that this is among the latest efforts to further

exploit DNA samples by deriving more specific information about a subject, the accuracy of

these tests is relatively unknown (Fullwiley). Although this technique originated in England, it

has also been used in the United States. In 2003, a Louisiana killer was identified shortly after a

tissue analysis “determined the killer was probably black” (Wade). Could DNA open new doors

for racial profiling and discrimination by allowing law enforcement officials to differentiate a

suspect by race?

B. Access and Use Concerns and the Possibility of Discrimination

As with all types of databases, there are concerns regarding unauthorized access and use

of information obtained from DNA. In 2008, President Bush signed the Genetic Information

Nondiscrimination Act, or GINA, into law (Marpuri; National Human Genome Research

Institute “Genetic Information Nondiscrimination”). This legislation was an important

preliminary action towards limiting the unethical use of genetic data by employers, insurance

companies, and medical providers. The GINA also provides protection for Americans who

volunteer as research subjects in studies involving genetic testing by “prohibiting discrimination

in the workplace and by health insurance providers” (National Human Genome Research

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Institute “Genetic Information Nondiscrimination”). However, the scope of protection outlined

under the GINA falls short of considering all types of insurance plans and employers, leaving

some Americans vulnerable to genetic discrimination. “GINA’s provisions prohibiting

discrimination in health coverage based on genetic information do not extend to life insurance,

disability insurance or long-term care insurance” (U.S. Department of Health and Human

Services Office for Human Research Protections).

Aside from the insurance protection loopholes, the GINA does not apply to businesses

with fewer than 15 employees (Genetic Alliance). Additionally, it does not extend to some

veterans and members of the military, and health benefits provided for federal employees by the

Federal Employees Health Benefits Plan (Genetic Alliance). According to the National Human

Genome Institute, the act states that health insurance providers cannot “use genetic information

to make eligibility, coverage, underwriting or premium setting decisions” (National Human

Genome Research Institute “Genetic Information Nondiscrimination”). The GINA also

“prohibits requesting, requiring, or purchasing genetic information about an individual employee

or family member,” which ensures that DNA obtained directly or indirectly from an American

citizen cannot be used to profile and potentially discriminate on the basis of genetically inherited

traits (U.S. Equal Employment Opportunity Commission).

The GINA is an important first step in addressing this issue, but it is not foolproof, and it

has not prevented the “leakage of genomic data in a few cases” (Marpuri). On the surface, the

GINA seems to address what could be considered our most sacred and detailed personal

information, our DNA, from many of the obvious privacy issues. Novel, and more recent, uses of

DNA information have emerged in the form of personal genetic testing services (PGTSs). For-

profit companies provide a new challenge in what could be viewed as a race to protect our

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genetic privacy. Preventing security breaches and limiting access to genetic information has

become more difficult with PGTSs. This is especially true in circumstances where DNA data is

stored by commercial entities and shared with consumers through private online accounts. Given

the now innumerable examples of hacking personal accounts for information and our increasing

reliance on computers and remote data storage methods, like those used by some PGTSs, it is

impossible to guarantee genetic data will remain secure and private. While legislation like the

GINA aims to protect individuals, the increased risk of security breaches combined with high

quantities of digitally archived and Internet accessible personal genetic information will make it

harder to prevent genetic discrimination. In addition to the voluntary offering of DNA samples to

PGTSs by consumers, insurance providers and employers are not the only groups that have an

interest in gathering genetic data from the public. Medical researchers and pharmaceutical

companies, as well as other third parties may want access to their clients’ genetic information for

marketing purposes and/or a better understanding of their cliental (American Cancer Society).

In some cases, unauthorized access to data is not directly linked to misuse. There is

always the potential for officials and managers of PGTSs or other entities managing genetic data

to access the information and violate the donor’s/customer’s privacy without the intent to

discriminate. In a hospital setting, there are checks and balances to ensure that healthcare

providers, who may be curious or know a patient personally, cannot casually review medical

files. History demands that we remain sensitive to the consequences of DNA profiling. It is not

unreasonable to foresee a future where DNA information could divide societies on the basis of

genetic fitness. Religion, physical appearance and other differences have resulted in now

unimaginable atrocities against humanity. DNA provides the most telling information, which in

the wrong hands could fuel divisive societal changes and result in harm based on genetic

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superiority. Given the amount of information that can be gleaned from a DNA sample, it is

imperative that state and federal governments advance legislation to anticipate and address this

possibility.

C. Non-Consensual Genetic Testing

Preventing third party access to personal genetic information will become challenging as

more commercial genetic testing companies appear in the marketplace. Web-based companies

such as 23andMe, Genedx, and Navigenics, have made personal genetic testing affordable and

available to anyone, regardless of where they live. These companies provide customers with

information about their ancestry and disease risk, among other things. With little governmental

regulation and predominantly self-imposed and self-enforced policies, corruption, and potentially

insufficient security standards means DNA information could be viewed by third parties without

donor/customer consent (Su). It is now possible to obtain a sample of someone’s DNA without

their knowledge or permission, and then send it to a commercial testing company. This practice

is commonly referred to as surreptitious testing (Hill). Some state governments have sought to

control “surreptitious commercial [DNA] testing” but, as of 2012, only half of U.S. states have

made this practice illegal (Brown). Companies like Nanopore Technologies are developing small

portable devices that analyze different molecules, including DNA (Nanopore). Affordability and

easy access will make DNA analysis more widely available in the future. Given that people leave

a DNA trail practically everywhere they go, this type of technology and a lack of regulation pose

major threats to privacy.

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D. Security Concerns with Private DNA Databases

The website advertising services for 23andMe appears innocuous, and promises

consumers, “23andMe respects your privacy. 23andMe does not sell, lease, or rent your

individual-level Personal Information without your explicit consent.” However, the company’s

official privacy statement reveals potential problems with their data storage and possible release

of customer information. On the topic, the company states,

“We may disclose to third parties, and/or use in our services, ‘Aggregated Genetic

and Self-Reported Information’, which is Genetic and Self-Reported Information

that has been stripped of registration information and combined with data from a

number of other users sufficient to minimize the possibility of exposing

individual-level information while still providing scientific evidence.” (23andMe)

There are several issues with this statement. The vague wording allows the company to easily

change the interpretation or definition of their terms. Additionally, “Sufficient to minimize the

possibility of exposing individual-level evidence” is, in no way, a promise of taking all possible

precautions to ensure the privacy and protection of their customers.

Others have raised concerns regarding the company’s purpose for collecting genetic

information. Various sources believe that 23andMe’s real goal is to build a massive database of

genetic information, which can then be associated with what each consumer reports about their

personal health. “A large enough database of people who were sharing not only genetic

information but information about their health and bodies offered… a tool that could be used to

find new genetic connections, for detecting drug side effects, maybe even for finding new

diagnostics or cures” (Herper). Some appreciate this action, and one journalist even claims that,

“on very many big issues, the company is right” (Herper). Of course, there are also opponents of

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this unconfirmed ulterior motive, “the agency [FDA] has no clue about the real dangers they

[23andMe] pose. The Personal Genome Service isn’t primarily intended to be a medical device.

It is a mechanism meant to be a front end for a massive information-gathering operation against

an unwitting public” (Seife).

With respect to both the governmentally managed CODIS database as well as smaller

databases managed by consumer genetic testing companies, there are legitimate concerns

regarding data security and the potential for breaches. 23andMe provides customers with a

personal online account, which is where a client’s self-reported medical information and test

results are stored. Hackers and viruses alike could target these sites and glean the information

from private emails, or personal data stored on the accounts. Two personal genetic testing

companies that rely on this type of system for accounting and communicating with customers are

23andMe and Navigenics. Recently, a flaw in OpenSSL was discovered, the most commonly

used open-source encryption system. OpenSSL is used to keep emails and other data only

intended for one recipient secure (Russell). The heartbleed bug disguises itself as a “heartbeat,”

or a small packet of data that is sent from one computer to another to ensure that both computers

are actually present (Russell). To prove both computers are operational, the one that received the

heartbeat sends back a small packet of data it has stored in its memory (Russell). This bug

“allows attackers to eavesdrop on communications, steal data directly from the services and users

and to impersonate services and users,” and it is thought that half a million websites have been

affected (Wakefield). A bug like this could easily allow hackers to target sites like 23andMe, and

threatens to expose private medical data and genetic information obtained from consumers who

use these services.

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Some argue that even if these databases were breached, it would be difficult, if not

impossible, for hackers to use genetic information to identify the anonymous individual who

provided it. Yet, it only took one M.I.T. undergraduate and a professor to prove that this is a

potential and real threat, and that some DNA samples can be traced back to the anonymous or

unidentified individual who contributed them. Using data available to the public from the 1,000

Genomes Project website, the professor and student selected 32 males to study and extracted the

genetic marker information from their DNA sequences (Ferguson). Afterwards, they used the

extraction, as well as the meta-data supplied with each sample, to search two publicly accessible

genealogy websites (Ferguson). These websites linked the data to surnames, although this may

seem insignificant,

“the results show that a curious party equipped with open-access information can

not only tie a three-billion-digit-long genome directly to an individual, but also

can use bits and pieces of that same DNA to identify distant relatives, male or

female, of the original genetic donor…. This is the first time that anyone has

connected an anonymous DNA sequence to its donor without donor DNA as a

reference” (Ferguson).

III. Conclusion

There are numerous nuances and questions surrounding the use of DNA databases and

whether we will be able to protect genetic privacy in the future. The widespread collection of

genetic data could easily allow the government and other entities to come too close to our

personal lives, and peer into the information encoded in our genes. This could pave the way for

an entirely new variety of discrimination based solely on inheritance. Although it is indisputable

that DNA evidence is more accurate than eyewitness testimonies; it is difficult to know exactly

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where to draw the line when it comes to the extent of analysis and long-term storage of DNA

profile information. These questions are only further complicated by options to obtain DNA

indirectly, by using methods like familial searches.

New ideas and technologies, like DNA databases, are often greeted with skepticism.

Despite this, in many cases these technologies gradually become accepted and widely used. One

of the best, and oldest examples of this phenomenon is writing. Initially Socrates was extremely

skeptical about writing, and stated:

“And in this instance you who are the father of letters, from a paternal love of

your own children have been led to attribute to them a quality which they cannot

have; for this discovery of yours will create forgetfulness in the learners’ souls,

because they will not use their memories; they will trust to the external written

characters and not remember of themselves.” (Konnikova)

Thousands of years later, writing has become commonplace and unavoidable; it is impossible to

imagine a modern world without writing. Socrates made the assumption that it would negatively

impact the people of his era, making them forgetful, but it is obvious that this was not actually

the case and that writing was an innovation critical to advancing society. Writing is not a new

“technology” by today’s standards, but in the time of Socrates, it was revolutionary.

More recently, people have questioned the impact of the internet, use of websites like

Facebook and MySpace, and criticized impersonal modes of communication, like texting and

instant-messaging. Texting has been in use for over 20 years, but people continue to question

whether or not it will negatively influence society (Moore). One of the largest questions

surrounding the use of texting is whether it has, or will, change how people communicate in

person (Tardanico). It is evident that computer technologies, and informal web-based

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communication platforms are not going anywhere soon. Most millennials can hardly imagine life

without a cell phone, and they would rather give up their car or TV set instead (Maynard).

Undoubtedly, social scientists are gathering data on how computers have altered human

interactions and communications. Whether or not these new technologies are harmful will be a

matter of perspective and time. Perhaps in the future, DNA databases will be accepted, widely

used, and important to society. As with writing and texting, new innovations require an

adjustment period. Possibly there will come a day when people shake their heads and chuckle at

the skepticism that surrounded DNA databases, but this acceptance may be part of a future where

privacy has been completely redefined, or more frighteningly, no longer exists.

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