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Thursday, June 13, 2019

How to protect your at-home DNA test data

Since at-home, direct-to-consumer DNA testing kits are still relatively new, fall somewhere in the murky area between the commercial and healthcare sectors and are not subject to HIPAA-protected physician approval, they can pose major risks to the privacy of users’ most personal health information.
Until stricter laws are put in place to regulate how consumer genomics companies use and share data, they are largely at will to distribute it to third parties such as insurance companies, law enforcement, pharmaceutical companies and more. Mailing in a cheek swab is registered as consent for 23andMe, Ancestry.com and their competitors to share a customer’s DNA results with a whole host of third parties.
Here, according to The New York Times, are tips for protecting at-home test data both before and after submitting DNA for testing.
1. Choose a major company: James Hazel, PhD, a postdoctoral fellow at the Center for Genetic Privacy and Identity in Community Settings, told NYT that larger, well-known companies like 23andMe, Ancestry.com and MyHeritage are more likely to have comprehensive privacy policies that hold them accountable for users’ data privacy than smaller, newer firms.
2. Read the fine print: Before signing up for a DNA testing service, read the privacy policy and user agreements to learn how and in what form data will be shared. For reference, “de-identified aggregate data” cannot be traced back to an individual, while “de-identified individual-level data” theoretically can. Additionally, the agreements may ask for permission to store DNA samples for future testing or to connect long-lost relatives with matching DNA, two deeply personal options that should be considered before giving consent.
3. Know how to revoke DNA test data: All of the major DNA testing companies offer customers the option to delete their data and test results from the company’s database. Users should familiarize themselves with those processes, but keep in mind that some identifying data may still be kept on record and that deleting data from the testing companies will not necessarily revoke it from the third parties with whom it has already been shared.

Noninvasive laser detects, kills melanoma cells in bloodstream

A noninvasive device using laser, ultrasound and phone technologies can detect and destroy circulating tumor cells (CTCs) in a cancer patient’s bloodstream without drawing any blood, according to a studypublished June 12 in Science Translational Medicine.
Scientists at the University of Arkansas for Medical Sciences in Little Rock used the Cytophone device on patients with and without melanoma. The device correctly identified all 19 healthy patients, and detected CTCs in 27 of 28 melanoma patients. Due to its high level of sensitivity, the tool was able to detect CTCs in patients with melanoma tumors not visible on the skin, due to either small size or surgical removal.
The Cytophone uses photoacoustic flow cytometry to scan a patient’s entire blood supply for CTCs, which are often sparse and difficult to detect, with the ability to identify even just one CTC per liter of blood, a detection rate approximately 1,000 times more sensitive than existing methods. Those methods require blood draws, allowing them to search for CTCs in only a small amount of blood.
Once CTCs are detected, the Cytophone also destroys the cancerous cells without harming any surrounding cells. As a result, the device is able to prevent metastasis by stopping the disease from traveling to other parts of the body through the bloodstream.

FDA OKs Amgen’s Herceptin biosimilar

The FDA approves Amgen’s (AMGN +0.4%) KANJINTI (trastuzumab-anns), its biosimilar to Roche’s (OTCQX:RHHBY +0.4%) Herceptin (trastuzumab).

Questions surround Bone Therapeutics’ spine data

The company needed a hit in its spine trial, and it claims to have got one.
The disastrous halting of a trial of Bone Therapeutics’ cell therapy Preob in hip osteonecrosis last autumn left the Belgian group in a precarious position. It is now claiming a hit with its one real remaining hope, the allogeneic osteoblast product Allob, in a phase IIa study in lumbar spinal fusion, and the company’s stock is up 9% so far today.
But with no control group the study does not settle the question of how much of the benefit seen was actually conferred by Allob.
Today’s news appears good. The trial enrolled 30 patients with degenerative spine disorders to whom Allob was administered at the surgical site during the standard fusion procedure for the lumbar vertebrae. This standard treatment involves the surgical implantation of an interbody cage with bioceramic granules into the spine.
Fusion
A year after the procedure successful fusion was seen on CT scans in in 22 out of 30 patients (73.3%). Bone Therapeutics gives a p value for this – less than 0.001 – despite the trial having no control group. It is comparing the one-year outcomes to baseline, in which case it is hardly surprising that there was an improvement.
Indeed, owing to the trial’s design, it is impossible to say whether the improvement was down to the inclusion of Allob or simply the standard spinal fusion procedure.
“How can we be sure the efficacy is coming form Allob? Obviously without a control we will never be sure,” Thomas Lienard, Bone Therapeutics’ chief executive, told Vantage on a conference call to discuss the results. He said that the trial’s objective was not to go head-to-head with another type of treatment but rather to have information on the safety of Allob and indications of its efficacy.
Professor Bronek Boszczyk, head of spinal surgery at Benedictus Hospital, Tutzing, Germany, said the trial was a cohort study, and as such the control group would be historical data from other studies.
“We believe the results are strong compared with the standard procedure alone,” Mr Lienard added.
Fracture trial
In its press release, the company added that the other eight patients showed evidence of bone formation, and said that 13 of the first 15 patients who reached the 24-month follow-up time point (86.7%) showed successful fusion.
It then stated that “treatment with Allob resulted in a clear and statistically significant clinical improvement from the pre-treatment baseline in functional disability” since 63% of the trial patients had improvements on the Oswestry Disability Index. It again gives a p value of less than 0.001. But again the data do not show that this improvement can be definitively attributed to Allob.
The company now plans to push Allob forward in its other indication, delayed-union or non-union fractures, with a phase II/III trial pencilled in for next year. The next steps in spinal fusion are not yet clear.
Perhaps it is not unusual for a phase IIa trial to dispense with a control group. But claiming statistical significance under these circumstances looks disingenuous.

Mount Sinai to launch $100M center dedicated to AI, precision medicine


Mount Sinai aerial shot
A new artificial intelligence research center at Mount Sinai will be home to researchers focused on data science, genomics and precision medicine. (Mount Sinai Health System)

RWJBarnabas, Rutgers firm academic med partnership in $750M cancer center

RWJBarnabas Rutgers Cancer Institute of New Jersey
As early as this summer, officials expect to break ground on a $750 million freestanding cancer hospital in New Brunswick adjacent to the existing Robert Wood Johnson University Hospital and the Rutgers Cancer Institute of New Jersey campus. (RWJBarnabas)

Glaxo teams up with Doudna, putting CRISPR to work to find new drugs

GlaxoSmithKline is joining forces with the University of California to dig into how gene mutations cause disease and to use CRISPR to discover new drugs. The partners will set up a new laboratory near the UC San Francisco (UCSF) campus that will net up to $67 million in funding over five years.
The Laboratory for Genomics Research (LGR) is the brainchild of CRISPR pioneer Jennifer Doudna, Ph.D., of UC Berkeley, Jonathan Weissman, Ph.D., whose work at UCSF includes CRISPR screening, and Hal Barron, M.D., GSK’s chief scientific officer and R&D chief. The lab will house 24 full-time UCSF employees as well as 14 GSK staffers who will focus on immunology, oncology and neuroscience. GSK’s artificial intelligence and machine learning teams will build the computational tools the lab needs to analyze the data its work will generate.
CRISPR has gained prominence as a treatment in itself—editing genes has obvious applications in a range of diseases—but the LGR will develop CRISPR-based tools to study how small changes in a person’s genetic makeup can increase the risk of disease and to identify new drug targets.
“Ultimately the goal is to deepen our understanding of genetics and discover new targets, and to create next generation technologies that will become future standard practice for the pharmaceutical industry,” the British pharma said in a statement.
“Over the last seven years, CRISPR has transformed academic research, but until the LGR, we haven’t had a focused effort to catalyze the kind of research we know will lead to new innovation using this CRISPR tool,” Doudna said in the statement. “LGR is about building that space where creative science is partnered with the development of robust technology that will help develop tomorrow’s drugs. I think we’re going to be able to do science that none of us can even imagine today.”
The new lab will also serve researchers at UC Berkeley and UCSF, who can use its technology to create their own tools exploring how genes work and to answer biological or biomedical questions in their own research.
“One of our key goals is to advance the field overall and make these tools as broadly available as possible. The LGR screening center will enable labs at UCSF and Berkeley, and having access to it will give our scientists opportunities to advance their research in ways that would be very hard for them to do in their own labs,” Weissman said.