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Clinical Laboratories and Pathology Groups

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Clinical Laboratories and Pathology Groups

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Veritas Genetics Drops Its Price for Clinical-Grade Whole-Genome Sequencing to $599, as Gene Sequencing Costs Continue to Fall

Low prices to encourage consumers to order its WGS service is one way Veritas co-founder and genetics pioneer George Church hopes to sequence 150,000 genomes by 2021

By announcing an annotated whole-genome sequencing (WGS) service to consumers for just $599, Veritas Genetics is establishing a new price benchmark for medical laboratories and gene testing companies. Prior to this announcement in July, Veritas priced its standard myGenome service at $999.

“There is no more comprehensive genetic test than your whole genome,” Rodrigo Martinez, Veritas’ Chief Marketing and Design Officer, told CNBC. “So, this is a clear signal that the whole genome is basically going to replace all other genetic tests. And this [price drop] gets it closer and closer and closer.”

Pathologists and clinical laboratory managers will want to watch to see if Veritas’ low-priced, $599 whole-genome sequencing becomes a pricing standard for the genetic testing industry. Meanwhile, the new price includes not only the sequencing, but also an expert analysis of test results that includes information on more than 200 conditions, Veritas says.

“The focus in our industry is shifting from the cost of sequencing genomes to interpretation capabilities and that’s where our secret sauce is,” said Veritas CEO Mirza Cifric in a news release. “We’ve built and deployed a world class platform to deliver clinically-actionable insights at scale.” The company also says it “achieved this milestone primarily by deploying internally-developed machine learning and AI [artificial intelligence] tools as well as external tools—including Google’s DeepVariant—and by improving its in-house lab operations.”

The myGenome service offers 30x WGS, which Veritas touts in company documentation as the “gold standard” for sequencing, compared to the less-precise 0.4x WGS.

The myGenome service is available only in the United States.

Will Whole-Genome Sequencing Replace Other Genetic Tests?

Veritas was co-founded by George Church, PhD, a pioneer of personal genomics through his involvement with the Harvard Personal Genome Project at Harvard Medical School. In a press release announcing the launch of myGenome in 2016, Veritas described its system as “the world’s first whole genome for less than $1,000, including interpretation and genetic counseling.”

Church predicts that WGS will someday replace other genetic tests, such as the genotyping used by personal genomics and biotechnology company 23andMe.

“Companies like 23andMe that are based on genotyping technology basically opened the market over the last decade,” Martinez explained in an interview with WTF Health. “They’ve done an incredible job of getting awareness in the general population.”

However, he goes on to say, “In genotyping technology, you are looking at very specific points of the genome, less than half of one percent, a very small amount.”

Martinez says Veritas is sequencing all 6.4 billion letters of the genome. And, with the new price point, “we’re closer to realizing that seismic shift,” he said in the news release.

“This is the inflection point,” Martinez told CNBC. “This is the point where the curve turns upward. You reach a critical mass when you are able to provide a product that gives value at a specific price point. This is the beginning of that. That’s why it’s seismic.”

Rodrigo Martinez (above), Veritas’ Chief Marketing and Design Officer, told CNBC, “The only way we’re going to be able to truly extract the value of the genome for a healthier society is going to be analyzing millions of genomes that have been sequenced. And the only way we can get there is by reducing the price so that more consumers can sequence their genome.” Photo copyright: Twitter.)

Payment Models Not Yet Established by Government, Private Payers

However, tying WGS into personalized medicine that leads to actionable diagnoses may not be easy. Robin Bennett, PhD (hon.), a board certified senior genetic counselor and Professor of Medicine and Medical Genetics at UW School of Medicine, told CNBC, “[Healthcare] may be moving in that direction, but the payment for testing and for services, it hasn’t moved in the preventive direction. So, unless the healthcare system changes, these tests may not be as useful because … the healthcare system hasn’t caught up to say, ‘Yes, we support payment for this.’”

Kathryn Phillips, PhD, Professor of Health Economics at University of California, San Francisco, says insurers are uncertain that genetic sequencing will lead to clinical diagnoses.

“Insurers are looking for things where, if you get the information, there’s something you can do with it and that both the provider and the patient are willing and able to use that information to do things that improve their health,” Phillips told CNBC. “Insurers are very interested in using genetic testing for prevention, but we need to . . . demonstrate that the information will be used and that it’s a good trade-off between the benefits and the costs.”

Sequencing for Free If You Share Your Data

Church may have an answer for that as well—get biopharmaceutical companies to foot the bill. Though Veritas’ new price for their myGenome service is significantly lower than before, it’s not free. That’s what Nebula Genomics, a start-up genetics company in Massachusetts co-founded by Church, offers people willing to share the data derived from their sequencing. To help biomedical researchers gather data for their studies, Nebula provides free or partially-paid-for whole-genome sequencing to qualified candidates.

“Nebula will enable individuals to get sequenced at much lower cost through sequencing subsidies paid by the biopharma industry,” Church told BioSpace. “We need to bring the costs of personal genome sequencing close to zero to achieve mass adoption.”

Dark Daily reported on Nebula’s program in “Nebula Genomics Offers FREE Whole Genome Sequencing to Customers Willing to Allow Their Data Be Used by Researchers for Drug Development,” January 7, 2019.

So, will lower-priced whole-genome sequencing catch on? Perhaps. It’s certainly popular with everyday people who want to learn their ancestry or predisposition to certain diseases. How it will ultimately affect clinical laboratories and pathologists remains to be seen, but one thing is certain—WGS is here to stay.

—Stephen Beale

Related Information:

Veritas Doubles Down on Consumer Genomics, Sets New Industry Milestone by Dropping Price of Genome to $599

23andMe Competitor Veritas Genetics Slashes Price of Whole Genome Sequencing 40% to $600

Veritas Genetics Launches $999 Whole Genome and Sets New Standard for Genetic Testing

Veritas Genetics Breaks $1,000 Whole Genome Barrier

Nebula Genomics Offers FREE Whole Genome Sequencing to Customers Willing to Allow Their Data Be Used by Researchers for Drug Development

Clinical Laboratory Accuracy and Quality Is under Increased Scrutiny as Precision Medicine Puts Diagnostics in the Spotlight

As the public gains awareness of the role clinical laboratories play in modern healthcare, increased engagement and understanding of the technology underlying many of these advances could create risk for labs without transparent reporting protocols to both patients and the public

In recent years, consumers have continually raised the bar in their expectation of quality when they interact with the healthcare system. Not only do patients expect providers—including clinical laboratories and anatomic pathology groups—to improve regularly over time, but the public has even less tolerance for medical errors of any type. Thus, a recent NPR story is one more warning to the medical laboratory profession that it should be devoting resources and effort to improving quality.

Today’s healthcare consumers and patients are more educated about and involved in the care process than ever before. While the exact science and skills may not interest the general public, the technologies underpinning much of the shift toward personalized medicine (AKA, precision medicine) are the same technologies that created the always-connected, digital lifestyles seen around the world.

With this, comes a level of scrutiny and questioning from the public that clinical laboratories or anatomic pathology groups would not have experienced even just a decade ago.

Mounting Scrutiny of Medical Laboratories and Healthcare Professionals

A recent segment on NPR’sAll Things Considered” highlighted this trend and questioned the quality control standards behind many of the procedures powering current testing. The segment also questioned the impact quality control has on the quality of biobanks used to research and create future technologies and tests.

Pathologist Richard Friedberg, PhD, Medical Director of Baystate Reference Laboratories and former president of the College of American Pathologists, told NPR, “We need to be sure that the stuff [doctors and researchers are] looking at is valid, accurate, reliable, and reproducible … If it’s garbage in, it’s garbage out.”

The story highlights improved standards and guidelines surrounding immunohistochemical (IHC) HER2 tests in the early 2000s. In 2007, The New York Times questioned the reliability of the tests, based on studies presented to the American Society of Clinical Oncology the week prior.

In response, the American Society of Clinical Oncology and the College of American Pathologists released guideline recommendations outlining the exact standards required to reduce assay variation and ensure that data produced is accurate and reproducible. NPR’s coverage claims this is the only test with such strict guidelines.

“I don’t think physicians think this way about their entire medical system,” Carolyn Compton, PhD, CMO of the National Biomarker Development Alliance, CMO of the Complex Adaptive Systems Initiative, and professor of Life Sciences at Arizona State University, told NPR. “I don’t see how we’re going to get precision medicine at the end of the day when everything under the hood is so imprecise.”

Atul-Butte-PhD

Atul Butte, PhD (above), Director of the Institute of Computation Health Sciences at the University of California-San Francisco, presents an alternate side to Compton and Friedberg’s views in the NPR article. “I am not a believer in garbage-in, garbage out at all,” he said. “I know that no one scientist, no one clinician or pathologist is perfect … But, I’d rather take 10 or 100 so-called mediocre data sets and find out what’s in common, then to take one who says they’re perfect at doing this kind of measurement.” (Photo copyright: Santiago Mejia/San Francisco Chronicle.)

 

When data and previous research powers much of the innovation taking place across the modern healthcare landscape, the accuracy of said data would seem critical. Yet, without standards in place, there’s not always safeties by which to verify sample integrity and other critical concerns.

Late last year, Dark Daily reported on a study published in PLOS ONE from Radboud University in the Netherlands questioning the accuracy of more than 30,000 published scientific studies that contained misidentified or contaminated cell lines. Guidelines, such as those created for IHR and FISH HER2 testing, provide standards intended to prevent such issues from occurring or detecting them when they do occur.

Quality versus Quantity: A Gamble Worth Taking?

Apart from challenges with healthcare reform and the regulatory landscape surrounding precision medicine, medical laboratories also must struggle with the challenges of gleaning and maintaining useful, accurate information from an ever-growing trove of data produced by analyzers and assays.

Yet, these mediocre datasets include the results of tests that carried a potentially significant impact on patient lives. In the first two weeks of February alone, both the St. Louis Post-Dispatch and The Telegraph published stories related to erroneous testing related to cancer and the potential impact on the clinical laboratories involved and the patients tested.

Increased coverage shows that the world is watching what goes on in medical laboratories, hospitals, and data centers as healthcare continues to evolve. Clinical laboratories must move forward with this in mind or risk pushback and questioning from the public. Transparency regarding standards, and reporting information to patients surrounding testing or concerns, might effectively address this rising trend.

“We are moving faster and faster and faster as this whole precision medicine train is moving down the track,” Tim Allen, MD, Laboratory Director at the University of Texas Medical Branch Department of Laboratory Services, told NPR. “I suspect standardization of these things is going to become a reality much quicker than I would have expected even a few years ago.”

That quality control issues in anatomic pathology are considered newsworthy by no less than NPR is a sign of increased public attention to the quality of lab testing. The story was written to educate the public about the gap that exists in the quality control of anatomic pathology testing. All of this is consistent with the trend for providers to be transparent and report their quality metrics to the public, including patients.

—Jon Stone

Related Information:

Hormone Receptor Testing Volume 1: Investigation and Findings Commission of Inquiry on Hormone Receptor Testing

Precision Medical Treatments Have a Quality Control Problem

HER2 TESTS: How Do We Choose?

Cancer Drug May Elude Many Women Who Need It

American Society of Clinical Oncology/College of American Pathologists Guideline Recommendations for Immunohistochemical Testing of Estrogen and Progesterone Receptors in Breast Cancer

Impact of Electronic Health Record Systems on Information Integrity: Quality and Safety Implications

His Doctor Said It Was Cancer. It Wasn’t. But the Lab Mix-Up News Came Too Late.

Up to 60,000 Cancer Test Results May Have to Be Reviewed After Women Wrongly Given the All-Clear

Over 30,000 Published Studies Could Be Wrong Due to Contaminated Cells

Netherlands University Researchers Question Validity of More Than 30,000 Published Scientific Studies; Findings Have Implications for Medical Laboratories

Precision Medicine Requires Targeted Cancer Therapies, but Payers Reluctant to Pay for Some Genetic Testing Needed to Match a Patient with Right Drug

Precision Medicine Requires Targeted Cancer Therapies, but Payers Reluctant to Pay for Some Genetic Testing Needed to Match a Patient with Right Drug

Clinical labs and pathology groups know how advances in targeted therapies and genomics far outpace providers’ and patients’ ability to know how best to use and pay for them.

One fascinating development on the road to precision medicine is that many new cancer drugs now in clinical trials will require a companion genetic test to identify patients with tumors that will respond to a specific therapeutic drug.

This implies more genetic testing of tumors, a prospect that challenges both the Medicare program and private health insurers because they already struggle to cope with the flood of new genetic tests and molecular diagnostic assays. However, even as this genetic testing wave swamps payers, some pharmaceutical companies have cancer drugs for rare types of cancers and these companies would like to see more genetic testing of tumors.

Pathologists and clinical laboratory managers will find this to be precisely the dilemma facing specialty pharma company Loxo Oncology (NASDAQ:LOXO), a biopharmaceutical company located in San Francisco and Stamford, Conn.

Loxo is developing larotrectinib (LOXO-101), a “selective TRK inhibitor.” According to a Loxo press release, Larotrectinib is “a potent, oral, and selective investigational new drug in clinical development for the treatment of patients with cancers that harbor abnormalities involving the tropomyosin receptor kinases (TRK receptors).” In short, the drug is designed to “directly target TRK, and nothing else, turning off the signaling pathway that allows TRK fusion cancers to grow.”

How to Find Patients for This Cancer Drug

While a powerful, new, targeted cancer drug will be a boon to cancer therapy, it is only intended for a relatively small number of patients. Loxo estimates that between 1,500 and 5,000 cases of cancer are caused by TRK mutations in the United States each year. Conversely, according to the National Cancer Institute, the total number of new cancer diagnoses in the US in 2016 was 1,685,210.

An article in MIT Technology Review on larotrectinib notes, “To find patients, Loxo will need to convince more doctors to order comprehensive tests that screen multiple genes at once, including TRK.” And that is where things get complicated.

“These advanced genetic tests, which can cost $5,000 or more, are offered by companies like Foundation Medicine, Caris Life Sciences, and Cancer Genetics. The problem is, insurers still consider the tests ‘experimental’ and don’t routinely cover them, meaning patients are often stuck picking up the bill,” notes MIT Technology Review.

Data for the graph above comes from the National Human Genome Research Institute. The graph illustrates the steep decline in cost for whole genome sequencing over the past 17 years. As the cost of genetic testing drops, development of targeted-drug cancer therapies increases. Clinical laboratories and anatomic pathology groups can expect to be performing more such tests in the future. (Graphic copyright: National Human Genome Research Institute/Simple English Wiki.)

To further confuse the market, the National Cancer Institute states that “Insurance coverage of tumor DNA sequencing depends on your insurance provider and the type of cancer you have. Insurance providers typically cover a DNA sequencing test if there is sufficient evidence to support that the test is necessary to guide patient treatment. Tests without sufficient evidence to support their utility may be considered experimental and are likely not covered by insurance.”

Many reliable sources agree. For example, the US National Library of Medicine Genetics Home Reference states, “In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a person’s doctor.”

That, however, leads to a different conundrum for drug makers such as Loxo: the majority of doctors are not keeping up with the rapid-fire pace of discovery in the realm of genetics and targeted therapies. Some genes like BRCA1 and BRCA2 are familiar enough to doctors that they know how and why they are important. However, most other genes are less known, and critically, less understood by doctors who must also focus on all the other myriad aspects of patient care.

In an article on the Color Genomics $249 Hereditary Cancer Test, which tests for mutations in 30 genes, Timothy Hamill, MD, Professor Emeritus, University of California San Francisco (UCSF) Department of Laboratory Medicine, and former overall director of UCSF’s clinical laboratories, told Wired, “If you talk to docs, they say ‘BRCA, that’s the only thing I’m interested in because I don’t know what to do with the other information.’ Doctors don’t know what to do with it. Patients don’t know what to do with it.”

More Testing Equals More Knowledge

Further complicating the issue, there is an enormous lack of information on how multipanel screenings will affect individuals, public health, and the cost of healthcare in general. Several studies are underway, but they are so new it could be years before any real results become available.

Five years ago, it cost about $20,000 to sequence the whole human genome. Now the average price is $1,500, though there are more and less expensive types of genetic tests. As the cost continues to decline, however, more people will undergo the testing and scientists will learn more about how to identify the best therapy to treat cancers caused by genetic mutations.

—Dava Stewart

Related Information:

Loxo Oncology Announces Positive Top-Line Results from Independent Review Committee Assessment of Larotrectinib Dataset

National Cancer Institute Statistics

Promising New Cancer Drugs Won’t Go Far Unless Everyone Gets Genetic Testing

Tumor DNA Sequencing in Cancer Treatment

Will Health Insurance Cover the Costs of Genetic Testing?

A Single $249 Test Analyzes 30 Cancer Genes. But Do You Need It?

Personal Genome Test Will Sell at New Low Price of $250

 

For Embattled Medical Laboratory Company Theranos, Bad News Keeps on Coming After Two Federal Inspections Show Problems in Certain Lab Practices

High rates of variability from one drop to another raise questions about the reliability of point of care testing equipment and companies that collect lab specimens only with finger sticks

Since last fall, one news report after another has come out with bad news for Theranos Inc., the high-profile medical laboratory company. The reports have ranged from dissatisfaction among Theranos’ partners, such as Walgreens and Capital BlueCross, to failed inspection reports from the federal Centers for Medicare and Medicaid Services (CMS) and the U.S. Food and Drug Administration (FDA).

In response, the embattled lab company in Palo Alto, Calif., has maintained that it is doing everything it can to correct any deficiencies in its clinical laboratory testing methods and to ensure its partners that its processes are scientifically sound and its methods valid. (more…)

Clinical Laboratories and Pathology Groups May See Fewer Fee-For-Service Payments as More Hospitals and Health Systems Become Self-Insured

As national health insurers push more risk to hospital systems and medical groups, many hospital administrators become more interested in establishing their own health insurance companies

New modes of provider reimbursement—such as bundled payments and budgeted payments—are motivating hospitals and health systems to reconsider their existing relationships with health insurers. Hospital administrators want to control the dollars they save by improving patient care, instead of allowing insurance companies to capture that money.

To accomplish these goals, more and more hospitals and health systems across the country are making one of three moves:

• Funding their own health plans;
• Partnering with health insurance companies; or,
• Buying health insurance companies.

As this trend gathers momentum, it will put the medical laboratories of hospitals in a much better position to regain access to patients. It can be expected that hospital administrators will include their own clinical laboratories and anatomic pathology providers in their own health insurance provider networks. (more…)

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