Genetics and Privacy

Part 2 of 2: The DNA testing industry is attracting significant investments and contributing to the growth of genetic databases, which raise important privacy concerns.
Biopolitical Times
Cartoon drawing of a person handcuffed by DNA

DNA Testing, Medical Applications and Databases

The concept of merging DNA ancestry testing with forensic analysis is very disturbing. But there is much more – and potentially worse – happening. Merging both technologies with gene editing and also with medical applications is under active development. Both Jennifer Doudna and Feng Zhang, two of the three discoverers of CRISPR-Cas9, are involved with companies aiming for exactly this kind of synergy.

Meanwhile, security breaches of mega-databases seem to be increasingly common. And for the cherry on top, Stephen Hsu (who already claims to be able to identify low-IQ embryos) is also one of the founders of another company that intends to be involved in all of the above and assisted reproduction too.

Investing in Testing

Big money is continuing to move into this area. On March 12, GenomeWeb featured this headline:

Forensic Genomics Firm Othram Raises $4M

Othram is particularly interesting since Hsu is one of the co-founders. Othram promotes itself with the slogan “Justice through genomics” but also claims to work with the military, private investigators, historians, and academic researchers using the most modern technologies:

Othram operates at the intersection of molecular biology, population genetics, and bioinformatics ... using cutting edge laboratory techniques and computational algorithms to extract the most value from sequenced human genomes. 

That’s their important value added: whole-genome sequencing. The company “certainly has future plans to explore research and clinical applications” for its technology. They might perhaps be interested in working with the Air Force, which claims to have developed a genetic test for cognitive performance:

People who can process and retain information better than their peers can be put in jobs that require fast thinking and complex problem-solving, or it can be used as a diagnostic for training and diet.

The Department of Defense is looking for partnerships with private companies that might turn the invention into new products.

But as Othram diversifies from forensic to medical applications, they will run into significant competition from companies expanding in the opposite direction. Mammoth Biosciences, for one, is focused on using gene editing for disease detection, “democratizing access to an endless variety of tests for biosensing in healthcare, as well as across industries such as agriculture, manufacturing, forensics, and more.” With Jennifer Doudna chairing the Scientific Advisory Board, they do have some credibility, as well as $23 million

But they are not alone: Doudna’s chief academic rival, Feng Zhang, is involved with the newly launched, and wonderfully named, Sherlock Biosciences, which also aims at the diagnostic testing market, and announced initial funding of $35 million on March 21. The company does not specifically target forensic applications at this time, but intends “to address significant unmet needs in infectious disease, oncology, agriculture, and other areas to transform diagnostic testing and global public health.” 

Two other companies announced an interesting alliance on March 18: 

My Gene Counsel and Ambry Genetics Join Forces to Bridge the Gap Between Direct-To-Consumer Testing and Medical-Grade Genetic Testing

Prenatal testing is another area attracting the interest of investors. BillionToOne just raised $15 million, claiming that its new technology “improves the resolution of cell-free DNA testing by over a thousand-fold.” The company “also plans to move into the oncology liquid biopsy market next year.” 

Who Benefits?

Skepticism remains appropriate in this industry. At a consumer level, the latest evidence from a substantial randomized trial reported in the BMJ Journal Heart is that:

Provision of risk information, whether based on phenotypic or genotypic characteristics, alongside web-based lifestyle advice did not importantly affect objectively measured levels of physical activity, other health-related behaviours, biological risk factors or emotional well-being.

Similarly, Bruce Cohen, Robertson-Steele Professor of Psychiatry at Harvard Medical School, told the Washington Post:

[S]tudies so far haven’t shown that genetic testing to choose antidepressants leads to collectively better outcomes for patients.

STAT Plus [paywall] recently discussed the gradual tendency of some physician-focused genetic testing companies, such as PerkinElmer and Invitae, to shift into the “patient-initiated testing” space. It also seems worth noting that an April 3 article published by Genetics in Medicine assessed how well laboratories followed the recommendations of the American College of Medical Genetics and Genomics (ACMG) on noninvasive prenatal screening (NIPS): “No company adhered to all laboratory guidance.” Whether this encourages either investment or patient uptake remains to be seen.

Meanwhile, 23andMe announced a new test, for diabetes risk, available to customers at no extra charge, which may just be what it’s worth. The real news is that

The company said it determined that it does not need clearance from the Food and Drug Administration to market the test; instead, it developed its new report by following the FDA’s guidance for developing products meant for wellness.

They didn’t ask the FDA, apparently. Doesn’t that give you confidence?

Privacy and Databases

An important part of the context for privacy concerns is the rapid, huge growth of genetic databases. The National Institutes of Health (NIH), for instance, is running All of Us, “a historic effort to gather data from one million or more people living in the United States to accelerate research and improve health.” NIH hopes to blunt the criticism, recently detailed in Cell, that human genomics research has a “diversity problem,” indeed “a white bias.” Kaiser Permanente has a parallel Research Bank, for members only. Both efforts are very aware of the need to keep information secure, but some experts are not fully convinced that current safeguards will be adequate.

Indeed, even with the best will in the world, accidents do happen. FEMA, the disaster relief agency, can attest to that: They inadvertently shared supposedly confidential data from 2.3 million survivors with an outside contractor. Facebook’s lack of data privacy has been front-page news for a while; investigations continue. Many more companies have had security issues: Equifax, Yahoo, Deep Root Analytics, Uber ... 

None of these involved leaks of genetic data, but it would be dangerously naive to assume that your DNA is going to remain private.

The question is, what can we do about it?


To read the first post in this series about privacy concerns and the growth of both DNA testing industry investments and genetic databases, see Genetics and Privacy: Part 1.