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Clinical Laboratories and Pathology Groups

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How DNA Databases Help Investigators Solve Crimes; Will Clinical Laboratories Be Asked to Help?

Studies show consumer genealogy databases are much broader than is generally known. If your cousins are in such a database, it’s likely you are too

Recent news stories highlighted crime investigators who used the DNA data in consumer genetic genealogy databases to solve cold cases. Though not widely known, such uses of direct-to-consumer DNA databases is becoming more commonplace, which might eventually lead to requests for clinical laboratories to assist in criminal investigations involving DNA data.

Case in point: investigators found the Golden State Killer, a serial killer/rapist/burglar who terrorized multiple California counties over a dozen years in the 1970s to 1980s, after uploading a DNA sample from the crime scene to GEDmatch, an open-data genomics database that features tools for genealogy research. They made the arrest after discovering a distant relative’s DNA in the genealogy database and matching it to the suspect, CBS News revealed in a 60 Minutes Overtime online report.

These and other investigators are using a technique called familial DNA testing (AKA, DNA Profiling), which enables them to use genetic material from relatives to solve crimes.

Clinical laboratories oversee DNA databases. Could DNA databases—developed and managed over years by medical laboratories for patient care—be subpoenaed by law enforcement investigating crimes?

The question raises many issues for society and for labs, including privacy responsibilities and appropriate use of genetic information. On the other hand, the genetic genie is already out of the bottle.

Leveraging Familia DNA to Solve Crimes a New Trend

“The solving of the Golden State Killer case opened this method up as a possibility, and other crime labs are taking advantage of it. Clearly, a trend has started,” Ruth Dickover, PhD, Director of Forensic Science, University of California, Davis, told the Los Angeles Times.

Indeed, the use of familial DNA testing is moving forward. The Verge reported 19 cold case samples have been identified in recent familial DNA testing and public database searches. It also said two new published studies may propel the technique further.

One study, published in the journal Science, suggests nearly every American of European ancestry may soon be identified through familial DNA testing.

The other study, published in Cell, shows that a person’s relatives can be detected when forensic DNA data are compared with consumer genetic databases.

Professor Noah Rosenberg and postdoctoral research fellow Jaehee Kim.

Noah Rosenberg, PhD (above left), Professor of Population Genetics and Society Biology at Stanford University, is shown above working with Jaehee Kim, PhD (right), a Postdoctoral Research Fellow in Biology, on math that could be used to track down relatives in genealogy databases based on forensic DNA. “This could be a way of expanding the reach of forensic genetics, potentially for solving even more cold cases. But at the same time, it could be exposing participants in those databases to forensic searches they might not have anticipated,” he told Wired. (Photo copyright: Stanford University/L.A. Cicero.)

15 Million People Already in Genealogy Databases

Researchers at Columbia University in New York and Hebrew University of Jerusalem told Science they were motivated by the recent trend of investigations leveraging third-party consumer genomics services to find criminals. But they perceived a gap.

“The big limitation is coverage. And even if you find an individual it requires complex analysis from that point,” Yaniv Erlich, PhD, Associate Professor at Columbia and Chief Science Officer at MyHeritage, told The Verge. MyHeritage is an online genealogy platform.

Others offering consumer genetic testing and family history exploration include 23andMe and Ancestry. As of April 2018, more than 15 million people have participated in direct-to-consumer genetic testing, the researchers noted.

The study aimed to find the likelihood that a person can be identified using a long-range familial search. It included these steps and findings:

  • Statistical analysis of 1.28 million people in the MyHeritage database;
  • Pairs of people with “identity-by-descent” were removed to avoid bias, such as first cousins and closer relationships;
  • Researchers aimed at finding a third cousin or closer relatives for each person in the database;
  • 60% of the 1.28 million people were matched with a third cousin or closer relative.

“We project that about 60% of the searches for individuals of European-descent will result in a third cousin or closer match, which can allow their identification using demographic identifiers. Moreover, the technique could implicate nearly any US individual of European descent in the near future,” the researchers wrote.

In an interview with Wired, Erlich added, “The takeaway is it doesn’t matter if you’ve been tested or not tested. You can be identified because the databases already cover such large fractions of the US—at least for European ancestry.”

Matching Forensic and Consumer Genetic Data

Meanwhile, the study published in Cell by researchers at Stanford University, University of California, Davis, and the University of Michigan also suggests investigators could compare forensic DNA samples with consumer genetic databases to find people related to criminals.

That study found:

  • 30% to 32% of people in a forensic database could be related to a child or parent in a consumer database;
  • 35% to 36% could be tied to a sibling.

These studies reveal that genetic data and familial DNA testing can help law enforcement find suspects, which is a good thing for society. But people who uploaded DNA data to some direct-to-consumer databases may find themselves caught up in searches they do not know about. So may their cousins.

Dark Daily recently covered other similar studies that showed it takes just one person’s DNA to reveal genetic information on an entire family. (See, “The Problems with Ancestry DNA Analyses,” October 18, 2018.) These developments in the use of DNA databases to identify criminals should be an early warning to clinical laboratories building databases of genetic information that, at some future point, law enforcement agencies might want access to those databases as part of ongoing criminal investigations.

—Donna Marie Pocius

Related Information:

Could Your DNA Help Solve a Cold Case?

So Many People Have Had Their DNA Sequenced That They’ve Put Other People’s Privacy in Jeopardy

The DNA Technique That Caught the Golden State Killer is More Powerful than We Thought

Identity Inference of Genomic Data Using Long-Range Familial Searches

Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci

Genome Hackers Show No One’s DNA is Anonymous Anymore

Stanford Researchers Discover a New Way to Find Relatives from Forensic DNA

The Problems with Ancestry DNA Analyses

Coverage of Alexion Investigation Highlights the Risk to Clinical Laboratories That Sell Blinded Medical Data

Despite blinding data and following protocols, a recent investigation in Bloomberg Businessweek shows that clinical laboratories can be at risk in deals with pharmaceutical and big data companies

While big data is transforming how healthcare is both researched and applied, it also offers opportunities for clinical laboratories to create additional revenue from the endless streams of data generated by diagnostic tests and genetic assays. However, these opportunities come at a cost.

Data mining and pharmaceutical companies are turning to medical laboratories for blinded data (patients’ names are removed) to aid in their research and marketing efforts. Although the data is blinded to adhere to consumer privacy protocols, a story on the biopharmaceutical company Alexion (NASDAQ:ALXN) in Bloomberg Businessweek shows how clinical laboratories may be at risk for civil and legal ramifications, as well as public relation concerns.

When Blinded Patient Data Is Not Blind

Despite requirements to anonymize medical data, the increased computing and data collection abilities of data mining companies make it possible to bridge gaps in information by collating multiple data sources. Companies then can make assumptions about the data with relative accuracy.

With Alexion’s drug Soliris, the blinded data was enough to locate healthcare professionals treating patients with paroxysmal nocturnal hemoglobinuria (PNH), a rare disease of the blood, and atypical hemolytic uremic syndrome (aHUS) a rare disease of the immune system.

Cover of the Bloomberg Businessweek issue containing the article on Pharmaceutical companies’ use of blinded patient data for marketing high-cost “orphan drugs” that were developed to treat just one specific rare disease. (Photo copyright: Bloomberg Businessweek.)

On the surface, this seems like an ideal example of how making clinical laboratory and pathology data available to companies can be beneficial to patients and a victory for healthcare.

However, the Bloomberg Businessweek article highlights a darker side of the issue, noting, “Alexion set out to persuade doctors to test more frequently for PNH and aHUS—and to find a way to glimpse these test results, which traditionally have been shared only among the patient, the doctor ordering the test, and the lab.”

Liability and Risk in Age of Big Data

By reaching out to doctors and encouraging them to route lab tests to preferred medical laboratories with which they allegedly had partnered, Alexion could collect information and compare it to their database to pinpoint opportunities to sell their orphan drug Soliris. An orphan drug contains a unique pharmaceutical agent that was developed to treat a specific rare disease.

Five clinical laboratory companies are named in the story. While these laboratories might have followed regulations and the partnerships might be legal, news stories such as these could result in public relations crises and damaged reputations.

According to the Bloomberg Businessweek article, Alexion is resolving legal or regulatory concerns in at least seven countries. Though there is no precedent for medical laboratories assuming liability or being implicated in the crimes of a company to which they sold blinded data, the possibility exists.

Increased Scrutiny as Privacy Becomes a Public Concern

Healthcare big data continues to unlock new opportunities and create new approaches in treating disease and improving health around the world. However, as the public gains awareness of how healthcare big data is collected, shared, and used, greater scrutiny of how the data is handled, and the parties involved, will likely follow.

Dark Daily reported on the balancing act faced by laboratories in a 2016 e-briefing titled, “Trading in Medical Data: Is this a Headache or an Opportunity for Pathologists and Clinical Laboratories?

That e-briefing cites a Scientific American article in which author Adam Tanner, a fellow at Harvard University’s Institute for Quantitative Social Science, states, “At present, the system is so opaque that many doctors, nurses, and patients are unaware that the information they record or divulge in an electronic health record, or the results from lab tests they request or consent to, may be anonymized and sold.”

In a similar story, Ancestry recently experienced how fast opinions can shift when certain online publications questioned the terms and conditions of the company’s AncestryDNA service. In a matter of days, the service went from an interesting example of consumer genomics to a trending topic on social media.

In the Slate article “Who Owns Your Genetic Data After a Home DNA Test?,” author Jacob Brogan notes, “Even if Ancestry maintains its current commitment to protecting its customers’ data, its willingness to profit from that information may raise red flags for the future of consumer genetic testing.”

While Ancestry might resolve its immediate troubles with an update to its terms of service governing how and when it sells the genetic information of its customers, the hit to the company’s reputation could continue to impact its business. This is something the five clinical lab companies affiliated with Alexion and named in the Bloomberg Businessweek story may be experiencing as well.

As competition increases and clinical laboratories work to cultivate and improve revenue streams and reduce costs, it remains important to stay ahead of trends—and public opinion—by choosing partnerships carefully and remaining transparent about how patient data is collected, shared or sold, and used.

—Jon Stone

Related Information:

When the Patient Is a Gold Mine: The Trouble With Rare-disease Drugs

Your Medical Data Is for Sale, and There’s Nothing You Can Do About It

How Data Brokers Make Money Off Your Medical Records

Who Owns Your Genetic Data After a Home DNA Test?

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