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Corporations fund self-validating studies all the time, but most of them don’t end up published in a 

 by genetic testing company Invitae that is noteworthy for a few reasons.

The researchers were looking to gauge the value that genetic deletions and duplications—called copy number variants (CNV)&mdash;can add to genetic testing. CNVs might be disease-causing or disease-associated (the well-known 

1-variation is an example), but most testing companies do not analyze for them: They typically aren’t detectable by whole-genome chromosomal microarrays often used in disease risk testing. The researchers indicate that more could be known about CNV prevalence and implications if certain advanced next-generation sequencing techniques were more widely used.

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The new study looked to a colossal data set to learn more about the phenomenon. De-identified sequence data for more than 143,000 individuals were included in the search. They found that about 10% of patients who received a report of potential disease-causing variants had CNVs, with examples across medical specialties, accounting for 4.7% of cardiac pathogenic variants to 35% of neurologic examples.

Invitae’s head of medical affairs, Swaroop Aradhya, PhD, was the study’s senior author. He called the intragenic dataset “one of the largest available” to the medical community, and added that the study did more than just help illustrate CNV prevalence. “We were able to discern properties of CNVs that help us distinguish between those most likely to cause disease versus those that exist as natural variation in the human genome,” he said.

The company’s chief medical officer, Robert Nussbaum, MD, said that the findings suggest that “CNVs are not just clinically significant, they are a critical piece of genetic information that can and should be delivered as part of comprehensive clinical testing.”

But incorporating that measure efficiently requires next-generation sequencing platforms that are capable of simultaneously preening for CNVs alongside other sequence variants. And therein lies the sale: Invitae 

 commercial lab to implement such a thing.

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Articles

Invitae just published a study that it says shows the necessity of looking for dupications and deletions when testing.

The Importance of Copy Number Variants in Genetic Testing

Twice this week, Western governments have taken punitive action against Russian companies and individuals out of suspicion that they contributed to ongoing cyberwarfare operations, including the now-notorious NotPetya attack that caused massive headaches for healthcare last summer.

, the United States Department of the Treasury slapped a fresh batch of economic sanctions on 

 believed to have provided material or technological support to Russia’s Federal Security Service (FSB) in its cyberwarfare efforts.

WannaCry, NotPetya, and Cyberwarfare's Threat to Healthcare

The FSB was blamed for launching NotPetya as a fake ransomware attack directed against Ukrainian infrastructure. Despite apparent efforts to target its spread, the cyberweapon ended up infecting enormous international companies, causing service delays and wiping out billions in revenue. American healthcare entities like Merck and Nuance Communications, both of which have operations or partnerships in Ukraine, fell victim to the attack

For that and other “destabilizing cyber activities”—including cyber intrusions against the US power grid&mdash;US citizens are now forbidden from doing business with firms Digital Security, ERPScan, Embedi, Kvant Scientific Research Institute, and Divetechnoservices. Three Divetechnoservices executives also made the list, and US-based assets belonging to the sanctioned parties are now blocked.

That news was followed a day later by the 

 to label software from Kaspersky, one of the world’s best-known cybersecurity firms, as “malicious” while urging member states not to adopt it. The company, which has continually denied claims that it has nefarious ties to the Russian government, had previously assisted the EU on its “No More Ransomware” campaign, and with efforts to recover from the WannaCry attack that crippled the United Kingdom’s National Health Service in May, 2017.

In the wake of the European Parliament’s declaration, Kaspersky suspended activities with the EU and its participation in the campaign.

“We have protected the EU for 20 years working with law enforcement leading to multiple arrests of CYBERCRIMINALS,” founder Eugene Kaspersky 

, adding that, “The way we conducted public-private partnership is unfortunately ceased until the withdraw of the European Parliament decision.”

banned use of Kaspersky’s anti-virus software

 in federal government machines. While recommending the move, the Department of Homeland Security wrote that Kaspersky’s anti-virus software could gain “broad access to files and elevated privileges on the computers on which the software is installed,” and that ties between “certain Kaspersky officials and Russian intelligence” were 

. Russian law also allows the country’s intelligence agencies to compel compliance and assistance from private companies.

™, cybersecurity experts described the NotPetya attack as intelligently designed and “elegant.” In addition to mechanisms meant to restrain its spread to Ukraine, it also acted differently when it encountered machines running Kaspersky’s software.

 showed that “if the victim machine has avp.exe (associated with Kaspersky antivirus) process running, NotPetya will NOT encrypt the [main file table],” meaning that Kaspersky-protected machines would be recoverable while other systems were destroyed completely.

It remains unclear, according to some experts, why that was the case. In its own analysis of the attack, published a day after it first hit, Kaspersky told infected users “

The company was given the opportunity to respond to the US ban, and it has committed to making its software code open source to disprove allegations of involvement with Russian government activities. It claims to cover over 

 and 270,000 corporate clients around the globe.

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Suspected involvement in destabilization efforts, including the devastating NotPetya attack that rocked healthcare, brought sanctions and killed partnerships this week.

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Concierge Key, a company that works to connect patients with top-notch specialists (for a premium) via mobile app, today launched its services for those using Android smartphones.

The company launched in the first quarter of this year for iOS users in select markets, allowing users to bypass wait times and book appointments with highly-rated specialists, sometimes as soon as the same day. It now has a handful of participating physicians in most states, with concentrations in dense urban centers.

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Company founder and CEO Robert Grant, MBA, built Concierge Key after noticing that his primary care physician had adopted a concierge system—with an annual retainer fee of a few thousand dollars. Realizing that such a service did not exist for specialists, he created one.

“We’ve all been through this bureaucratic, impersonal system that has forgotten we are customers. The whole industry right now is upside down,” Grant told 

™ in a previous interview. “What we tried to build here is something that I and other people in my office would value as consumers.”

Grant, in a statement, noted that the expansion to Android more than doubles the number of smartphone users

 of engaging with Concierge Key’s app. About 53% of all smartphone owners in the US have an iPhone. “We wanted to ensure that our platform was accessible to that user base, too,” he said, adding also that the new locations represented an interest in “expanding the innovative Concierge Key Health service to include even more discerning consumers."

The increased availability doesn’t necessarily double the company’s potential market customer base, however: Android users, as a demographic, have significantly lower median incomes than iPhone users, which may make them less likely to seek a premium service. That trend also seems particularly pronounced in all of the brand’s available markets, as demonstrated by this 

snarkily-titled series of device usage heat maps

Concierge Key isn’t cheap: It’s a $3,000 per-year service for individuals, with more expensive packages to cover family members. But Grant poses it as a value proposition: Rather than forcing patients through into a confusing series of referrals through their primary care physician or insurance company, it allows them to go directly to a curated group of specialists.

“What percentage of flights are done through a travel agent versus online?” he asked during our earlier interview. “It’s just more convenient.”

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“We wanted to ensure that our platform was accessible to that user base, too,”  the company's founder and CEO said. 

Concierge Key Expands Premium Specialist Access App to Android

A subsidiary of Israeli defense company Elbit Systems, announced today that it has raised $11.5 million to continue work on artificial reality (AR) and virtual reality (VR) tools for surgeons.

Elbit does plenty of VR and AR work for military training and operations, and in 2012 it began bringing its experience in simulation to healthcare applications. The resulting spin-off company, Beyeonics, is focused on a product called the Clarity Bionic Visualization Platform, which features a transparent, camera-equipped headset display that “replace[s] surgical microscopes” by projecting visualizations to guide surgeons during ophthalmologic surgeries. That device is accompanied by a processing core that uses analytics tools to enable instantaneous data integration from numerous digital sensors.

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The system has been undergoing clinical trials for about 2 years now. According to the company, it has been successfully tested in more than 20 surgeries both in Israel at Tel Aviv Sourasky Medical Center and in the United States at Renal Consultants of Arizona.

The investors backing Beyeonics were not named, although 

 report that “5 unnamed organizations…including an American corporation in the medical device business” contributed to the round.

“We are proud to have spun-off a company that leverages some of our unique technologies to materially enhance surgeons' capabilities in the operating room,” Elbit Systems CEO Bezhalel Machlis said 

. “This investment will enable Beyeonics to expand product development, to include additional surgical applications and to accelerate commercialization."

 for the company, which reads “Beyeonics” above the phrase “The Future of Surgery.”

And that moniker probably isn’t inaccurate, although Beyeonics is far from alone in the AR/VR surgery and simulation field. Earlier this year, a team in Texas became the first to perform an AR-assisted sinus surgery using technology from a 

. Meanwhile, numerous firms—ranging from startups like Osso VR to established tech giants like Samsung&mdash;are working to create physician and surgeon tools that manipulate their eyes to improve patient outcomes.

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Last summer, its parent company trademarked a wordmark that reads “The Future of Surgery.”

Ryan Black

Articles

The Importance of Copy Number Variants in Genetic Testing

Cyberwarfare Concerns Yield Consequences for Russian Tech Companies

Concierge Key Expands Premium Specialist Access App to Android

Beyeonics Raises $11.5M to Develop AR and VR for Eye Surgeons