Emergency and urgent hospitalizations are associated with an increased rate of cognitive decline in older adults, report researchers at Rush University Medical Center. Results of their study, published in the Jan. 11, 2019, online issue of Neurology, the medical journal of the American Academy of Neurology, shows that hospitalization may be a more of a major risk factor for long-term cognitive decline in older adults than previously recognized.
“We found that those who have non-elective (emergency or urgent) hospitalizations and who have not previously been diagnosed with dementia or Alzheimer’s disease had a rapid decline in cognitive function (i.e., thinking abilities) compared to the prehospital rates,” said Bryan James, PhD, an epidemiologist and in the Rush Alzheimer’s Disease Center and an assistant professor in the Rush Department of Internal Medicine. “By comparison, people who were never hospitalized and those who had elective hospitalizations did not experience the drastic decline in cognitive function.”
In 2017, James and colleagues presented a preliminary version of their study results at the Alzheimer’s Association International Conference in London.
Study compares hospitalization data and cognitive assessments for 777 older adults
The data emerged from a study of 777 older adults (81 years old on average, 75 percent of them women) enrolled in the Rush Memory and Aging Project (MAP) in Chicago. The study involved annual cognitive assessments and clinical evaluations.
Information on hospitalizations was acquired by linking records of 1999 to 2010 Medicare claims for these participants with their MAP data. All hospital admissions were designated as elective, emergency, or urgent. The latter two were combined as non-elective for analysis.
Of the 777 participants, 460 were hospitalized at least once over an average of almost five years of observation. Of those who were hospitalized, 222 (29 percent of the total study population) had at least one elective hospital admission, and 418 (54 percent) had at least one non-elective hospital admission. These groups included 180 participants (23 percent) who had both types of hospitalizations.
Non-elective hospitalizations were associated with an approximately 50 percent acceleration in the rate of cognitive decline from before hospitalization, and a rate of cognitive decline that was more than double the rate in persons who were not hospitalized. Elective hospitalizations, however, were not associated with acceleration in the rate of decline at all.
‘Elective admissions do not necessarily carry the same risk’
“We saw a clear distinction: non-elective admissions drive the association between hospitalization and long-term changes in cognitive function in later life, while elective admissions do not necessarily carry the same risk of negative cognitive outcomes,” James said. “These findings have important implications for the medical decision making and care of older adults.
“While recognizing that all medical procedures carry some degree of risk, this study implies that planned hospital encounters may not be as dangerous to the cognitive health of older persons as emergency or urgent situations.”
It is unknown why emergency and urgent hospitalizations carry a higher risk of long-term cognitive decline than elective hospitalizations, but it could be due to differences in levels of sickness (though the authors controlled for health status), stress, or hospital procedures involved. The authors plan to explore these reasons in future research.
This work expands upon previous research which has shown that after being hospitalized, older adults are at high risk for memory and other cognitive problems, including both transient (temporary) delirium and long-term changes in cognition, including dementia. According to the Healthcare Cost and Utilization Project in October 2010, 40 percent of all hospitalized patients in U.S. are age 65 and older. Therefore, hospitalization may be an under-recognized risk factor for cognitive decline and dementia for a large number of older adults that deserves more attention.
Detection of dementia at the earliest stages has become a worldwide priority, because drug treatments, prevention strategies and other interventions will likely be more effective very early in the disease process, before extensive brain damage has occurred.
When Black Diamond Therapeutics emerged from stealth modelast month with $20 million in backing and a handful of preclinical cancer drugs, the company signaled that another financing was in the works for 2019. That day is here.
Black Diamond announced late Wednesday that it has closed $85 million in Series B financing, which the company says it will use to advance its top drug candidates into human testing within the next two years.
Black Diamond was incubated within the Switzerland drug discovery unit of venture capital firm Versant Ventures. The company is developing drugs that target allosteric sites, less obvious targets on a molecule that can still produce an outsized effect on the activity of that molecule. Black Diamond has technology that it says can find oncogenes, the genes that spark the growth of cancers. The genes can be activated by mutations, including allosteric mutations. The company says its technology can show how oncogenes are activated, which helps scientists develop corresponding drugs.
So far, Black Diamond says its research has produced five drug programs. The company plans to use the funding to advance up to three of them into clinical trials. It will also use the cash to further develop its drug technology and to set up a new corporate headquarters in Cambridge, MA.
New Enterprise Associates and RA Capital Management led the Series B round. Additional new investors NexTech Invest, The Invus Group, and Perceptive Advisors, also participated in the financing, joining founding investor Versant Ventures.
A University of Wisconsin-Madison researcher and his collaborators at the University of California, San Francisco have repurposed the gene-editing tool CRISPR to study which genes are targeted by particular antibiotics, providing clues on how to improve existing antibiotics or develop new ones.
Resistance to current antibiotics by disease-causing pathogens is a growing problem, one estimated to endanger millions of lives and cost over $2 billion each year in the U.S.
“What we need to do is to figure out new weaknesses in these bacteria,” says Jason Peters, a UW-Madison professor of pharmaceutical sciences, who developed the new system.
The technique, known as Mobile-CRISPRi, allows scientists to screen for antibiotic function in a wide range of pathogenic bacteria.
Using a form of bacterial sex, the researchers transferred Mobile-CRISPRi from common laboratory strains into diverse bacteria, even including a little-studied microbe making its home on cheese rinds. This ease of transfer makes the technique a boon for scientists studying any number of bacteria that cause disease or promote health.
Peters worked with Carol Gross, Oren Rosenberg and other colleagues at UCSF and other institutions to design and test Mobile-CRISPRi. The system reduces the production of protein from targeted genes, allowing researchers to identify how antibiotics inhibit the growth of pathogens. That knowledge can help direct research to overcome resistance to existing drugs.
The researchers published their findings Jan. 7 in the journal Nature Microbiology. They took advantage of the increasingly popular molecular tool CRISPR, but in a unique way.
“Most people, when they think about CRISPR, think about gene editing,” says Peters, who earned his doctorate at UW-Madison and recently joined the School of Pharmacy as an assistant professor. “But that’s not what I do.”
Normally, the CRISPR system gets targeted to a gene where it cuts the DNA in two. The gene can be edited while the cell repairs the damage.
But Peters and his collaborators worked with a defanged form of CRISPR known as CRISPRi. CRISPRi has been engineered to be unable to cut DNA. Instead, it just sits on the DNA, blocking other proteins from gaining access to and turning on a particular gene. The result is lower expression of the gene and a reduced amount of the protein it codes for.
The researchers showed that if they decreased the amount of protein targeted by an antibiotic, bacteria became much more sensitive to lower levels of the drug — evidence of an association between gene and drug. Thousands of genes at a time can be screened as potential antibiotic targets this way, helping scientists learn how antibiotics work and how to improve them.
To make CRISPRi mobile, the researchers developed methods to transfer the system from common lab models like E. coli to disease-causing species, which are often harder to study. Peters’ team turned to one of the natural ways bacteria link up and exchange DNA, a kind of bacterial sex called conjugation. Former UW-Madison Professor of Genetics Joshua Lederberg discovered conjugation, which earned him a Nobel Prize in 1958.
“You basically mix the bacteria together and it happens,” Peters says of conjugation. “It doesn’t get much easier than that.”
Using conjugation, Peters’ team transferred Mobile-CRISPRi to the pathogens Pseudomonas, Salmonella, Staphylococcus and Listeria, among others.
“What that means is that you can now do studies on how antibiotics work directly in these pathogens,” says Peters. “That could give us a better clue about how these drugs work in the different organisms and potentially what we can do to make them better.”
The real test of Mobile-CRISPRi’s mobility came from cheese.
As cheese ages, it curates its own landscape of microbes. Scientists are just starting to investigate the immense diversity of bacteria and fungi on cheeses, which contribute to their complex flavors. One of those bacteria, Vibrio casei, was found on the rind of a French cheese in 2010 by Peters’ collaborator Rachel Dutton of the University of California, San Diego.
Manipulating genes is simple in established laboratory bacteria such as E. coli, but there is often no way to study genes in bacteria recently isolated from the environment, such as V. casei. But Mobile-CRISPRi was easily transferred into the strain, opening up new avenues for understanding how the bacteria colonizes and helps age cheese. As a proof-of-concept, V. casei suggests that Mobile-CRISPRi should be useful for any number of previously understudied bacteria, both those that harm us and those we rely on.
Now Peters is offering up Mobile-CRISPRi to other researchers to study their germs of choice.
“So now it’s going to be completely available to the community,” says Peters. “Now this gives people a path forward.”
This work was supported by the National Institutes of Health (grants F32 GM108222 and R01 GM102790) and the U.S. Department of Agriculture National Institute of Food and Agriculture Hatch Project NYC-189438.
Jason M. Peters, Byoung-Mo Koo, Ramiro Patino, Gary E. Heussler, Cameron C. Hearne, Jiuxin Qu, Yuki F. Inclan, John S. Hawkins, Candy H. S. Lu, Melanie R. Silvis, M. Michael Harden, Hendrik Osadnik, Joseph E. Peters, Joanne N. Engel, Rachel J. Dutton, Alan D. Grossman, Carol A. Gross, Oren S. Rosenberg. Enabling genetic analysis of diverse bacteria with Mobile-CRISPRi. Nature Microbiology, 2019; DOI: 10.1038/s41564-018-0327-z
The New York State Department of Health has agreed to a deal with Independence Care System to wind down its managed long-term care plan by March 31 and transition members to a different insurer.
If ICS’ about 5,800 MLTC members do not pick a new plan by April 1, they automatically will be enrolled in VNSNY Choice, the MLTC plan of the Visiting Nurse Service of New York. Members who join VNSNY Choice will be “guaranteed the same level of services they currently receive for one year,” ICS said. Members who pick a different plan are eligible to maintain their same level of service for 120 days.
As part of its deal with the state, ICS said it will create the state’s first health home for people with physical disabilities. The Medicaid Health Home program coordinates care for people with multiple chronic illnesses, HIV/AIDS or a serious mental illness. ICS, which serves members in the Bronx, Brooklyn, Manhattan and Queens, will apply that model to people with physical disabilities, coordinating their care but no longer acting as the insurer that approves and pays for their services.
“DOH worked with us over many months to ensure that we will be able to use the specialized knowledge and skills we have developed to continue serving New Yorkers with disabilities,” Regina Estela, ICS’ chief operating officer, said in a statement.
The arrangement will allow for continuity of services, said state Medicaid Director Donna Frescatore.
“That’s a really important agreement,” she said. “Consumers will be able to continue to access a care manager they trust and have a longstanding relationship with.”
Independence Care System, founded in 2000, specializes in providing coverage to people with physical disabilities and had struggled financially due to the more intensive services required by its members. ICS has a significant portion of members requiring 12- or 24-hour care by home health aides, according to disability advocates. The state’s managed long-term care program is designed to provide nursing home–level care to people who are chronically ill or disabled with the goal of allowing them to remain at home.
“Caring for a high proportion of members with significant to severe disabilities made it increasingly fiscally unsustainable for ICS to continue as an MLTC plan,” ICS said in its announcement.
Frescatore said the premiums VNSNY Choice receives will be adjusted to reflect the financial risk of new members. She said it would be more financially feasible for VNS Choice, which had about 13,200 members as of December, to manage ICS’ members.
“The risk of the population will be spread over more members, who have more diversity in need,” she said.
Alex Elegudin, co-founder and president of the advocacy organization Wheeling Forward, said he was disappointed that the state did not increase reimbursement to ICS so it could continue to operate as an insurer.
He said he hopes the state Department of Health would monitor former ICS members to see whether the rates of nursing home use and hospitalizations are affected by the transition.
“I wish we would’ve had a long-term solution, not a short-term transition,” he said. “In a year, we will need an army of lawyers to help individuals protect their services.”
MemorialCare executive John Cascell believes physicians are privileged to be chosen to work in the system’s hospitals and clinics. They’re high-quality facilities that are well-respected in California’s Orange and Los Angeles counties.
That’s why he stands behind the Fountain Valley, Calif.-based health system’s long-standing policy of requiring in-hospital physician groups to contract with the same insurance carriers as MemorialCare. The provision became part of the system’s contracts several years ago in response to patient complaints about receiving surprise bills.
“For them to reject that, we may say, ‘Well why would we even want to work with your group if you’re not going to work with the payers in a reasonable fashion?’ ” said Cascell, senior vice president of managed care at the four-hospital system. “We can’t have disruption, because ultimately it hurts the patients, and that’s what we want to make sure doesn’t occur.”
Among the myriad solutions proposed for the widespread problem of surprise medical bills, some industry insiders say simply requiring in-hospital physician groups to contract with the same insurers as the facilities they work in could go a long way. Such stipulations were commonplace decades ago, but some experts say the practice slipped out of favor around 2000 as major physician staffing companies—which tend to make more money when they’re out of network—gained market power.
When Rulon Stacey worked as a hospital administrator, he often let physician groups decline to participate with the same insurers as the hospital. He now thinks that was the wrong decision.
“I do believe that we need to consider the option of requiring hospital-based physicians to contract with all of the insurance companies that we have affiliations with,” said Stacey, the current leader of Navigant’s healthcare strategy practice. “We can’t keep leaving the patients as the ones in the middle. It’s not acceptable.”
Perhaps the biggest downside with such a stipulation is that it tends to disadvantage physicians and hands a lot of negotiating leverage to insurers, especially if they know the physician group must contract with them as a condition of working in a certain hospital. To be fair to the physicians, some hospital administrators said their contracts have so-called reasonableness provisions that promise physicians won’t be forced to accept less than market rates from insurers.
Boca Raton (Fla.) Regional Hospital, which requires physician groups to contract with the same insurers as the hospital, is among those with such contract language. That provision might be used if, for example, a major insurer offered to pay only 10% of what Medicare pays for radiology services, said Dan Sacco, the hospital’s vice president for strategic affairs and payer relations.
“We’re not going to dislocate our entire radiology group because (an insurer) has been totally unreasonable,” he said. “So it does come down to just using common sense about this.”
Sacco said the hospital has not yet been in that situation.
MemorialCare, which also has a reasonableness provision, will step in and help physicians in contract negotiations if necessary.
“If a physician group is at an impasse with a payer, we would certainly do what we could to help move along the process,” MemorialCare Chief Financial Officer Karen Testman said in an email.
Still, these types of provisions are tricky when dealing with national physician groups like Envision Healthcare’s EmCare, which provides physician staffing for emergency rooms and inpatient areas of hospitals. Lee Hirsch, CEO of St. Peter’s Healthcare System in New Brunswick, N.J., said his system’s contracts require physicians to have the same in-network insurers, but has still had problems with EmCare being in-network with some insurers, despite having contracts that require it.
“The ability to actually implement that 100% of the time does become a challenge,” Hirsch said.
Envision spokeswoman Kim Warth said the company cannot discuss the confidential terms of its contracts with hospitals. But in an email, Warth said, “We do work closely with our hospital partners to ensure we provide services to meet the needs of the community,” adding that in February 2017, Envision Healthcare publicly committed to an in-network strategy. “Currently more than 90% of our revenue comes from in-network agreements. We just recently signed new agreements with Cigna Healthcare of Arizona, Horizon Healthcare Services in New Jersey and extended our national contract with UnitedHealthcare.”
In situations like that, Hirsch said St. Peter’s maintains an active dialogue to ensure its patients aren’t getting surprise bills, a problem he said he hears few complaints about. New Jersey’s new law designed to protect patients from surprise bills will likely further reduce that risk, Hirsch said. The law, which took effect last summer, requires providers to tell patients before scheduling an appointment whether they are in or out of network and to disclose all costs the patient is likely to incur from the procedure.
Surprise billing is one of the few areas that could see bipartisan action in Washington, D.C. Last year, lawmakers on both sides of the aisle introduced bills to curb or at least minimize the impact of surprise bills.
Protecting Patients from Surprise Medical Bills Act would:
• Limit patient cost-sharing to the amount they’d owe an in-network provider
• Establish payment standards detailing what insurers would owe providers in those cases
• Prohibit balance billing by providers
• Once a patient is stabilized in an out-of-network emergency room, the provider would have to notify them of the potential for higher costs if they remain in the facility
No More Surprise Medical Bills Act would:
• Restrict charges to in-network levels
• Require insurers to count the cost-sharing amount for surprise out-of-network bills toward in-network deductible and out-of-pocket limits
• Establish binding arbitration in cases where insurers and providers can’t reach agreement
Not all hospitals will be able to successfully require their in-hospital physicians to contract with the same insurance carriers, especially if they lack negotiating strength. Particularly in rural areas, some hospitals may not have many options for physician staffing groups. On the flip side, some physician groups may find it imperative to contract with the only hospital in town.
“It’s sort of like this market arms race between the plans, the hospitals and physicians for dominant position in the contract negotiations,” said Michael Miller, policy director with consumer advocacy group Community Catalyst. “Everyone is responding in analogous ways, and you’ve got to sort of put a stop to it.”
One thing everyone agrees on, Miller said: Consumers are getting caught in the crossfire.
“They are sort of the innocent bystanders in this,” he said.
Administrators from hospitals that have added such rules said patient complaints pushed them to make the change. MemorialCare’s Cascell said even though hospitals in California aren’t allowed to employ physicians, patients still tend to connect the bill they receive from physicians to the hospital, because that’s where they received the care. It was calls from unhappy customers that eventually pushed the health system to make the change, he said.
Much like what happened at MemorialCare, Sacco of Boca Raton Regional Hospital said the change was largely driven by patient dissatisfaction. In-hospital physicians must contract with the same insurers as the hospital so that patients aren’t caught off guard with unexpected bills.
“Patients do not have a choice,” he said, “and so we require them to participate in the same health plans that we participate in.”
Miller said he doesn’t think bad PR alone would be enough to drive a hospital to adopt such a rule with physician groups—unless the hospital already has significant leverage.
In a perfect world, such issues would be solved by having all parties sit around a table to make sure each provider in the supply chain is contracted with the right payers, said Steven Shill, national leader and assurance partner in the BDO Center for Healthcare Excellence & Innovation. But for now, he said it makes sense for hospitals to take the “play ball or you’re not in our networks” approach, since they’re likely going to field most of the complaints from patients.
“I think the hospital is ultimately going to become the quarterback in many of these situations, because they have the most to lose,” Shill said.
At least six states have passed protections against surprise billing. State laws do so by capping charges for out-of-network services, improving cost transparency, establishing an arbitration process and investing in research on the impact of surprise billing, according to the National Academy for State Health Policy. Congress is considering the No More Surprise Medical Bills Act of 2018, sponsored by Sen. Maggie Hassan (D-N.H.), which would, among other things, prohibit hospitals and providers from charging patients with employer-sponsored health plans more than the in-network amount for emergency medical care. The American Hospital Association and Families USA have come out in support of the measure.
If hospitals decide to require physicians to contract with certain insurers, they should be prepared for tough conversations, Sacco said, adding that both parties should approach the situation from the perspective of protecting the consumer.
“We’re trying to protect them, but we’re also trying to be reasonable business partners as well,” he said.
Invitae announced at the annual JP Morgan Healthcare Conference being held this week in San Francisco that all of its tests that have traditionally been physician ordered, will also be available for consumer-initiated ordering.
The strategy is aimed at lifting barriers that patients may face in accessing genetic testing due to cost, outdated guidelines, or restrictive insurance coverage policies. The genetic testing information offered by the company is important to people at all stages in their lives, said Invitae CEO Sean George, but he noted that the pace of scientific advancements in the genomics space has outstripped the ability of the healthcare system to use this information.
He highlighted the story of a young man with chest pains who died before he was diagnosed. The man’s mother had an inkling that there might be a familial or genetic cause to her son’s ailments and asked about genetic testing, but doctors didn’t do the testing. Finally, the medical examiner agreed to order the test, Invitae did the analysis, and uncovered a rare genetic cause, said George, but this wasn’t much of a surprise to the experts at the company because this happens more often than people might think.
“In 2019, we’ll focus on removing the barrier to access that information and providing support to that individual family every step of the way,” George said. “The broad set of genetic testing capabilities [that Invitae provides] … is now being made available online in a patient-initiated testing format.”
Currently, Invitae’s website notes that it will “soon offer a new way for patients to initiate a test for themselves, giving them access to genetic counselors and physicians who can place the order, and making it easier than ever before to get the information they need from any of Invitae’s affordable, comprehensive genetic tests.” In addition to allowing patients to order testing, Invitae sells its panel tests for $250 when patients without insurance coverage have to pay out of pocket.
This consumer-facing strategy that allows individuals to initiate testing and provides low self-pay test pricing (assuming insurance won’t pay) is already being employed by companies like Color, Veritas Genetics, and by companies providing health-related apps on the Helix online genomic marketplace. At the conference, George said Invitae’s initiative is in the early-access phase and will be commercially launched in the second quarter.
Ahead of George’s presentation, Invitae announced that it is expecting revenues of more than $144 million in 2018, more than double the revenue it generated in 2017, and projected testing volume that doubled year over year to more than 302,000 samples compared to around 150,000 in 2017. The company also said that in the fourth quarter it continued to push down the cost of goods sold to less than $250 per sample compared to $260 in the third quarter.
In the five years since Invitae’s launch, it has tested 500,000 patients, and George projected that by the end of 2019 the company hopes to have served more than 1 million patients.
In the next 18 to 24 months, the company plans to launch more tests to its portfolio of inherited cancer screening products, tests that provide information about the molecular features of cancers, and non-invasive tests for monitoring cancer progression and recurrence.
Invitae will also introduce a variety of offerings in the reproductive health setting, enabled by its acquisition of Good Start Genetics and CombiMatrix in 2017. George highlighted that the company will launch a genome- or exome-based neonatal exam aimed at identifying the between 1 percent to 3 percent of babies born with a genetic disorder to help families “get ahead of the information … before that child hits the NICU.”
The 37th annual JP Morgan Healthcare Conference kicked off here on Monday with several life science tools and molecular diagnostics companies presenting before thousands of investors. Below are brief reports on the presentations and breakout sessions covered by our team at the conference and in our offices in New York.
10x Genomics
10x Genomics more than doubled its revenue in 2018 over 2017, CEO Serge Saxonov said during his presentation on Monday. The firm’s total 2018 revenues were $146 million, up from $71 million in 2017. The company has placed more than 1,000 of its instruments, up from 500 by the end of 2017, and has more than 4,000 active users, Saxonov added.
Saxonov also said that the company plans to launch a new product in 2019 that will pair single-cell gene expression with spatial information. The product will make use of technology developed by Spatial Transcriptomics, a Swedish startup that spun out of the Science for Life Laboratory in Stockholm and that 10x acquired last month. Spatial Transcriptomics’ technology involved overlaying a thin tissue slice on a slide that contained nucleic acid probes. Barcodes that preserve spatial information are attached to the mRNA molecules, which are then prepared for sequencing. Saxonov said that 10x is working on a product that would combine this technology with the firm’s single-cell technology and would launch in 2019.
Looking ahead, Saxonov projected that the company’s total addressable market would grow to $53 billion by 2022, up from $42 billion in 2018, driven by growth in the single-cell market, which is just “in the earliest stages,” as well as in immuno-oncology and the broader precision medicine market, Saxonov said.
In 2018, the firm launched a number of new products, including single-cell ATAC-seq, which is based on technology the company secured by acquiring Stanford spinout Epinomics. In addition, it launched several products that make use of feature barcoding, or the ability to look at multiple aspects from one cell, such as proteins and gene expression. It also launched a third version of its single-cell gene expression kit. Saxonov noted that in the first few months of launching the single-cell ATAC-seq kit, it quickly became the firm’s fastest selling product. Pharmaceutical companies have shown a particular interest in the feature barcoding kit that combines single-cell gene expression with CRISPR-induced mutations, enabling high-throughput functional studies. Pharmaceutical companies see that as a way to “zero in” on the right target and the right drugs, Saxonov said.
Also this week, 10x said that it had raised $35 million in an extension of its Series D financing round. The company said last month that it plans to expandin 2019, including adding a new manufacturing site and increasing its workforce by 50 percent.
Myriad Genetics
On the heels of a publication of the results of a randomized controlled study on Myriad Genetics’ pharmacogenetic test GeneSight, which aims to guide treatment for patients suffering from depression, Myriad CEO Mark Capone said that the test is the firm’s “most important from the standpoint of future growth,” representing a $5 billion total addressable market in the US.
He noted that the firm plans to submit a dossier to private payors and Medicare this week for reimbursement. Overall, Capone said that the firm’s new products have been driving volume growth. In fiscal year 2013, less than 1 percent of testing volumes were from new products, but in fiscal year 2018, 76 percent of testing volumes derived from new products. A significant amount of that growth was driven by the acquisition of Counsyl, which closed last July. That enabled Myriad to expand into the reproductive health market, with Counsyl’s carrier screening and noninvasive prenatal tests.
Going forward, Capone said that Myriad plans to triple the number of sales reps for its prenatal products this month in order to push into the Ob/Gyn market, which he said is underpenetrated. Most other NIPT firms have focused on the maternal fetal medicine market, he said, since maternal fetal medicine specialists typically handle high-risk pregnancies for which NIPT is reimbursed. However, Capone said that NIPT for average-risk pregnancies is being increasingly accepted and some payors are covering it, noting that an anticipated endorsement by the American College of Obstetrics and Gynecologists sometime this year would help secure broader reimbursement.
Aside from Counsyl’s tests, an important acquisition was the app Counsyl developed, Counsyl Complete, essentially a “one-stop shopping for [prenatal] tests to order by the Ob/Gyn,” Capone said. “It automates the process from the time the patient comes into the office to the test result.” Capone said that Myriad eventually plans to apply that app, which it will rebrand as Myriad Complete, to the company’s entire portfolio of tests.
Bruker
Bruker Chairman President and CEO Frank Laukien provided an update on all the firm’s businesses and end markets including its MALDI Biotyper, a system used for microbial identification that is viewed as a success story for clinical proteomics. According to Laukien, the firm has an installed base of around 3,200 Biotyper systems around the world. And while sales growth for the system has slowed to the high-single digits, Laukien pointed out that about half the revenues associated with the platform are now coming from consumables, which are growing at a much higher rate.
The firm is working on multiple assays for the Biotyper system including blood culture identification and susceptibility testing. Laukien said that its rapid SepsiTyper product for bloodstream infections has been launched in Europe, and the firm is planning trials this year in advance of a filing for marketing clearance from the US Food and Drug Administration.
Through its acquisition of Hain Lifescience in August 2018, Bruker now has several assays marketed or in development for many infectious diseases including tuberculosis, sexually transmitted diseases, and HIV. The acquisition is part of a larger effort by Bruker to expand its microbiology offerings beyond the mass spec-based MALDI Biotyper system.
Laukien noted that Bruker has a pipeline of assays it is developing using Hain’s Liquid Array format, and in particular it aims to develop syndromic panels that will be launched in 2021 and beyond. It aims to launch a TB Liquid Array panel this year.
Laukien noted that Bruker made eight acquisitions in 2018 for a total of $190 million. Hain was one of those deals, but Laukien said the firm has placed recent emphasis on beefing up its informatics capabilities, and singled out its deal last month to take a majority stake in Mestrelab Research, a Spanish firm that has developed software for spectroscopic data from platforms such as mass spectrometry and NMR.
Konica Minolta
Aaron Elliott, CEO of Ambry Genetics, which Konica Minolta acquired in 2017 for $1 billion, discussed the genetic testing portion of the overall company’s business and how it is working with another of Konica Minolta’s businesses, imaging company Invicro. Elliottt noted that both Ambry and Invicro continue to operate as independent subsidiaries under the Konica Minolta Precision Medicine arm of Konica Minolta. Kiyotaka Fujii serves as CEO of Konica Minolta Precision Medicine. And, a separate branch of Konica Minolta is a Japan-focused precision medicine business, which it launched last September and is run by Ken Masuo.
At the conference, Elliott said that Ambry has now run more than 1.5 million genetic tests, the vast majority of them next-generation sequencing tests, and receives, on average, orders from 11,000 clinicians from more than 4,000 institutions per year. Its tests are in-network with around 95 percent of the insured population, he said, and its CLIA-certified, CAP-accredited lab has the capacity to process 3,000 samples per day. In addition, he said, the firm runs a translational genomics lab that can conduct variant classification. Elliott noted that for one class of variant, splice site variants, RNA testing was able to reduce the number of variants classified as being of unknown significance to 8 percent from 92 percent.
Kenneth Bloom, who serves as chief medical officer of both Ambry and Invicro, said that the company has been working on combining the high sensitivity tissue testing (HSTT) technology that Invicro has been developing with Ambry’s genomic testing. Bloom described the HSTT technology as a “secondary detection system for immunohistochemistry that’s very high sensitivity but without amplification.” It is based on nanoparticle detection technology and is quantitative. In a 2017 study published in Scientific Reports, Invicro described using the technology to quantify the level of HER2 expression.
Bloom said that the company is currently collaborating with several pharmaceutical companies to use the technology and is collaborating with some academic partners to see if “we can use the same substrate for HSTT and then go on to do deeper molecular profiling,” he said.
More broadly, Bloom said that he thinks imaging will have a larger role to play in diagnosis in the future and that in combination with genomic testing, it could be a powerful diagnostic tool that would also expand Ambry’s market.
Geisinger
Jaewon Ryu, Geisinger’s interim president and CEO, said that the integrated health system began offering routine clinical sequencing to its patients last July, following its pilot program that it announced last May.
The offering was born out of its MyCode Community Health Initiative, a research project that originally began as a biobank initiative in 2007 but expanded to include exome sequencing in partnership with Regeneron Pharmaceuticals in 2013. Participants who enroll in the research project receive results back for 76 genes related to hereditary cancer, cardiovascular conditions, and other genetic disorders.
Ryu said that more than 225,000 participants had enrolled in MyCode as of November 2018 and that 1,046 positive findings had been returned to patients. But because those results have implications for an average of five relatives per positive result, he estimated that in total, around 5,000 individuals were at risk.
During his presentation, he highlighted one patient’s story — a 60-year-old man who had a history of heart disease, including a heart attack at age 35 and a heart transplant at age 45. He enrolled in MyCode and discovered he had a mutation that impacted the ability of his LDL receptors to get rid of bad cholesterol. Not only did that provide an explanation for his previous heart conditions, but importantly, it prompted testing in his son, who was also found to have the mutation. “That has dramatically altered the care plan for the son,” Ryu said.
Ryu noted that Geisinger recognized around $8 billion in 2018 revenues.
