快猫短视频

Editorial: Time for laws on genome spies

INTIMATE secrets hidden in your DNA could be stolen without you even realising. By taking a glass from which you have drunk, a 鈥済enome hacker鈥� could obtain a comprehensive scan of your genome, revealing DNA variants that help determine your susceptibility to a wide range of diseases, from a common form of blindness to Alzheimer鈥檚 disease.

That鈥檚 the disturbing finding of a 快猫短视频 investigation, in which one of us 鈥� Michael Reilly 鈥� 鈥渉acked鈥� the genome of the other 鈥� Peter Aldhous 鈥� armed with only a credit card, a private email account and a home address.

You might have thought that genome hacking requires specialist skills, and personal access to sophisticated equipment. But in recent years, some companies have started to offer personal genome scans to the public over the internet. Other firms routinely analyse genomes on behalf of scientists involved in human genetics research. In theory, both types of service are vulnerable to abuse by a genome hacker determined to submit someone else鈥檚 DNA for covert analysis.

Until our investigation, it was not clear whether this would be possible in practice. Could a hacker with no access to a genetics lab take an item carrying another person鈥檚 DNA and obtain a sample that companies would accept for scanning? Would the sample be of high enough quality to yield accurate results? And would genome analysis companies have procedures in place to identify and refuse suspicious orders?

We decided to find out. Rather like computer security researchers who expose vulnerabilities in software code so that they can be 鈥減atched鈥� to guard against malicious hackers, our goal was to uncover vulnerabilities in the way companies offering genome scans operate, so that they can be fixed.

Our investigation uncovered some loopholes that might be closed to help thwart genome thieves. The findings also strengthen the case for additional laws to protect the information contained in the DNA that we all shed continually and leave lying around.

鈥淛ust as we have a right to expect that relatives, neighbours, or even strangers can鈥檛 poke through our medical records without our permission, we should have a right to expect that people can鈥檛 snoop through our genes,鈥� says , who heads the Genetics and Public Policy Center in Washington DC.

鈥淲e should have a right to expect that people can鈥檛 snoop through our genes鈥�

Our experimental genome hack began like this: Peter drank water from a glass, which he handed to Michael. Michael鈥檚 first task was to get Peter鈥檚 DNA off the glass and turn it into a sample that he could submit to a genome-scanning company.

Michael approached several firms that ordinarily extract DNA from items like drinking glasses and match this DNA against particular individuals, on behalf of the police, private detectives or citizens pursuing their own investigations. He said nothing about his intentions, but soon found a company that would extract the DNA without performing any DNA matches. Some weeks later a vial containing a solution of Peter鈥檚 DNA turned up at Michael鈥檚 home.

DNA boosters

Companies that perform genome scans use DNA 鈥渃hips鈥� that test for the presence of hundreds of thousands of DNA variants known as single nucleotide polymorphisms, or SNPs 鈥� some of which have been associated with susceptibility to various diseases. As these chips require more DNA than came from our drinking glass, Michael鈥檚 next challenge was to duplicate Peter鈥檚 DNA to get a large enough sample.

This procedure, called 鈥渨hole genome amplification鈥�, is offered to scientists and could, for instance, be used to amplify DNA from small clinical samples in studies investigating the genetic origins of disease. Geneticists often place orders involving large numbers of samples, but Michael found a lab services firm that was willing to amplify our single sample to produce more than enough DNA to run on a SNP chip. He did not say why he wanted this done.

Next we had to choose a company to perform the genome scan itself. Lab services companies, such as the one that performed our amplification, often offer this service to scientists as well. But they do not provide an interpretation of the scans in terms of health risks and other traits 鈥� something a genome hacker is likely to want. So this wasn鈥檛 our first port of call. Instead, we looked at the personal genomics services offered to members of the public by companies such as of Reykjavik, Iceland, and the Californian firms of Mountain View and , based in Foster City.

Swab spiker

To gather the DNA provided by their customers, 23andMe and Navigenics use a collection tube into which you must spit about 2 millilitres of saliva. We decided that it would be hard to convert Peter鈥檚 amplified DNA sample into a form that closely mimicked saliva. So we chose to use Decode鈥檚 service, branded deCODEme, which instead collects DNA using swabs consisting of a piece of filter paper on a plastic handle that customers are supposed to rub against the inside of their cheek. We reasoned that Michael might be able to 鈥渟pike鈥� these swabs with Peter鈥檚 amplified DNA without Decode noticing.

The terms and conditions for the deCODEme service state that someone submitting DNA must have the legal authority to do so, and that the sample must be taken from the cheek. We wanted to test whether deCODEme is vulnerable to abuse from someone prepared to ignore these terms, so Michael pipetted some of Peter鈥檚 DNA onto deCODEme鈥檚 swabs and sent them off for analysis under his own name. As far as Decode was concerned, it was a sample of Michael鈥檚 DNA taken by swabbing his own cheek.

This is when we hit our only real obstacle. A few weeks later, Michael was told that the sample had not processed successfully. This is possibly because Decode uses a chip that isn鈥檛 designed to work with amplified DNA.

We had two contingency plans, however. First, Michael contacted our original lab services company again and asked it to analyse the remainder of our amplified sample using a different type of chip to the one that Decode uses. This company also has terms and conditions specifying that customers must have the necessary consents and approvals to submit samples. Mimicking a hacker who would be willing to ignore these terms, Michael submitted the amplified DNA for scanning.

Second, we made use of the replacement cheek swabs sent to deCODEme customers when a sample fails to process. We wanted to test the swabs鈥� vulnerability to being spiked with a different source of 鈥渁bandoned鈥� DNA that might be taken by a genome hacker 鈥� semen from a used condom. Peter sealed the replacement swabs, spiked with his semen, in an envelope, which Michael sent back to Decode.

Both of these back-up plans worked. For the sample of DNA taken from the drinking glass and analysed by the lab services company we obtained a read-out of about a million of Peter鈥檚 SNPs. To interpret this information, we used a computer program called , which can be downloaded for free from the genomics website .

SNPedia contains information contributed by genomics enthusiasts on the diseases and traits linked to particular SNPs, mostly drawn from scientific papers. Promethease is a tool intended for legitimate customers of personal genomics companies that takes the raw data from an individual鈥檚 genome scan and relates it to the information in SNPedia, highlighting those SNPs that seem to reveal the most interesting things about the person concerned.

For the semen sample submitted to Decode, we obtained the company鈥檚 own interpretation of Peter鈥檚 lifetime risks of developing a range of diseases, in addition to a full download of the raw data, again documenting about a million SNPs.

So what would a hacker who had taken Peter鈥檚 DNA have learned about him? For the DNA taken from the drinking glass, Promethease highlighted a range of SNPs, including those conferring increased risks of baldness, the skin disease psoriasis, and a form of blindness called exfoliation glaucoma. Decode鈥檚 interpretation of the semen sample was rather different. For instance, it decided from an analysis of eight different SNPs that Peter鈥檚 risk of developing psoriasis is very low (see table). And while Promethease and Decode both concluded that Peter is more likely than a typical person to develop Alzheimer鈥檚 disease, they disagreed on the size of his risk (see 鈥淎 short-lived Alzheimer鈥檚 scare鈥�).

In part, these confusing results reflect current limits to geneticists鈥� knowledge of how individual variations in DNA sequences influence health. But the science is advancing quickly, so there is no room for complacency about the ease with which a genome can be hacked.

Motives for such hacking are not hard to find. In the wake of the US presidential election, Robert Green and George Annas of Boston University speculated that future campaigns could be blighted by the sneaky analysis of a candidate鈥檚 DNA by political opponents who hope to reveal looming health problems (The New England Journal of Medicine, vol 359, p 2192).

For people who are not politicians or celebrities, the most obvious threat comes from unscrupulous employers or insurers 鈥� and many countries have already restricted their use of genetic information. But private citizens may also have motives to pry into one another鈥檚 DNA. A newly engaged person might want to know whether their future spouse carries genes making them vulnerable to dementia, for example. Or a childless couple could simply wipe a dribbling baby鈥檚 mouth to investigate the child鈥檚 genetic heritage and traits before deciding whether to adopt.

鈥淎n engaged person might want to know if their future spouse is vulnerable to dementia鈥�

Cost is not a huge obstacle, as the sums we spent would not deter a wealthy snoop. Decode鈥檚 analysis of Peter鈥檚 semen cost $985, while the total price for extracting his DNA from a drinking glass and then getting it amplified and analysed by the lab services company was about $1700. Genomic analysis is only going to get cheaper, and more powerful. 鈥淭he plummeting costs of genome profiling and sequencing make it all too tempting to snoop around in other people鈥檚 genomes,鈥� says Hudson.

Still, the results of our investigation suggest steps that companies could take to help protect people鈥檚 privacy, and 快猫短视频 has informed firms that run SNP analyses of our findings.

For companies selling genetic analyses to the public, verifying the origin of samples will always be difficult unless sample collection is supervised by a medical professional or some other official witness. It is possible to run lab tests that distinguish saliva and swabs taken from inside the cheek from other biological samples, however.

Companies offering services to research scientists, meanwhile, might consider running some checks to try to confirm that customers are legitimate. Such checks may not be completely hacker-proof, but had Michael been asked for evidence of affiliation to a scientific institution, he would not have been able to provide it legitimately.

Following our investigation, the company that amplified and analysed the sample from the drinking glass is now considering whether it could introduce further checks without obstructing legitimate orders. 鈥淐learly we do not want to process samples where the proper consent has not been obtained,鈥� says the firm鈥檚 operations director. 鈥淚t鈥檚 a question of how to achieve that goal without impeding the research of legitimate scientists.鈥�

Thwarting genome hackers may also require new laws to protect privacy. One approach would be for other countries to follow the UK, which has made it a crime to have someone else鈥檚 DNA with the intent of analysing it without consent. 鈥淎lthough we are not aware of any instances of this in personal genome analysis, there is a clear rationale for making it illegal to analyse an individual鈥檚 DNA without their knowledge and consent,鈥� says Decode spokesman Edward Farmer. Such laws are difficult to enforce, however, as an earlier 快猫短视频 investigation revealed (31 January, p 6).

Another approach, which could be tried in parallel, would be to make it illegal for companies to extract and analyse DNA left on everyday items, except under specific circumstances. 鈥淭here鈥檚 no good reason, unless you are a police officer investigating a crime, to be doing DNA analysis on a sample from a drinking glass,鈥� argues , director of the Institute for Bioethics, Health Policy and Law at the University of Louisville in Kentucky.

One thing is clear: if lawmakers fail to rise to the challenge posed by genome hacking, we all have reason to fear for the security of our DNA.

Editorial: Time for laws on genome spies