Dec 3, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
As personalized medicine becomes more popular, clinical laboratories, and anatomic pathologists are uniquely positioned to use next-generation sequencing to advance their scope among regulators, insurers, providers and patients, while adding clinical value and generating a new revenue source
By now, most clinical pathologists and medical laboratory scientists recognize that genetics, genetic testing, and gene sequencing will be a major transformative force in this country’s healthcare system. Genetics is the future of modern medicine.
At the same time, most independent labs and health network labs still lack the key resources needed for them to provide accurate and state-of-the-art genetic testing and gene sequencing services in support of clinical care.
The good news is that it is not yet prime time for genetic testing—meaning few genetic tests have become part of routine care, particularly in primary care settings. Today’s limited use of genetic tests creates the opportunity for any medical laboratory and anatomic pathology group to use this time to develop its genetic testing strategy. It also has time to incrementally put in place the resources it will need to offer genetic testing and gene sequencing services to its client physicians.
“Every clinical lab that wants to be a provider of genetic tests needs three basic resources,” stated Robert L. Michel, Editor-in-Chief of The Dark Report and Dark Daily. “First, the lab must have information technology in place that can handle genetic and molecular data. The second thing needed are pathologists, PhDs, and clinical laboratory scientists trained in genetic and molecular diagnostics. Of course, the third resource is to have the lab analyzers, instruments, and automation needed to extract, amplify, and sequence specimens.”
Experts agree that adoption of genetic testing will happen at a rapid pace. “Next-generation sequencing (NGS) is an incredibly powerful, positive force in medical care. We were in the Dark Ages before this. It is the tsunami on our shores, and it’s going to take over all of medicine. It’s not a trend. It’s the future of medicine. There’s no question about it,” predicts Maurie Markman, MD, an oncologist and President of Medicine and Science at Cancer Treatment Centers of America, in an article he penned for Health Connect South.
“As knowledge of genomic medicine has increased, its cost has plummeted,” notes Maurie Markman, MD (above), President of the Cancer Treatment Centers of America, in his Health Connect South article. “Sequencing a human genome [in 2015] costs less than $10,000, compared to more than $100 million in 2001. Not only are the tests more available to patients, but more oncologists are trying their hand at tumor testing and building on the base of knowledge.” (Photo copyright: Cancer Treatment Centers of America.)
“This can be done by either adding the needed functions to the existing laboratory information system (LIS) or supplementing that LIS with appropriate middleware solutions,” he continued. “This is true even if a lab plans to outsource both the gene sequencing and the annotation and interpretation of the resulting gene sequences. It will need in-house informatics capabilities to store and report that genetic information.”
NGS, Gene Sequencing, Precision Medicine, and Clinical Laboratories
Purchasing, implementing, and operating NGS technologies can be a costly venture, so it is critical that labs know and understand the needs of their referring clients.
“Knowing who your lab’s customers are and what you do for them today should guide you as a laboratory,” notes Brian Keefe, Vice President of Sales and Customer Innovation at Psyche Systems, a laboratory solutions developer for the medical industry based in Boston. “For example, your pathology group knows it should be offering NGS testing, and the justification for needing to go in this direction is because 90% of your clients are oncologists.”
Using NGS technology and marketing it to clients will be a valuable benefit for clinical laboratories. It will enable labs to participate in personalized medicine and allow them to become the “go to” facility for specific genetic tests.
“If you’re a laboratory that has figured out how to map the genome for nightmare bacteria, it doesn’t matter whether you’re three miles or 3,000 miles away, physicians will send their samples to your lab regardless of the distance,” Keefe notes. “If your lab is first to market, you establish powerful brand recognition and attract positive attention, which justifies your lab’s cost to set up and offer that testing in the first place.”
Learn More by Requesting the Dark Daily NGS White Paper
To help medical laboratories and anatomic pathology groups learn more about the growing role of NGS in clinical care, and how NGS can benefit clinical and molecular laboratories, Dark Daily and The Dark Report have produced a white paper titled, “How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians.”
Medical laboratory leaders who want to learn how labs can establish NGS services and implement the IT/Informatics needed to be successful in using NGS should request a copy of this important white paper. It reviews how pathologists can help providers select targeted therapies and touches on marketing strategies to use NGS to procure new customers and retain existing customers.
The NGS white paper can be downloaded at no cost by clicking here or placing https://www.darkdaily.com/how-next-generation-sequencing-helps-molecular-laboratories-deliver-personalized-medicine-services-to-their-client-physicians-601/ into your browser.
—JP Schlingman
Related Information:
How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians
Genomic Medicine: The Future of Cancer Treatment Is Now
Clinical Pathology Labs Are on Track to Get New Genetic Test That Screens for 448 Rare Childhood Diseases
Is Whole-genome Sequencing Reaching a Tipping Point for Clinical Pathology Laboratories?
Nov 20, 2017 | Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
FDA is streamlining how new diagnostic tests are approved; encourages IVD companies to focus on ‘qualifying biomarkers’ in development of new cancer drugs
It is good news for the anatomic pathology profession that new insights into the human immune system are triggering not only a wave of new therapeutic drugs, but also the need for companion diagnostic tests that help physicians decide when it is appropriate to prescribe immunotherapy drugs.
Rapid advances in precision medicine, and the discovery that a patient’s own immune system can be used to suppress chronic disease, have motivated pharmaceutical companies to pursue new research into creating targeted therapies for cancer patients. These therapies are based on a patient’s physiological condition at the time of diagnosis. This is the very definition of precision medicine and it is changing how oncologists, anatomic pathologists, and medical laboratories diagnose and treat cancer and other chronic diseases.
Since immunotherapy drugs require companion diagnostic tests, in vitro diagnostic (IVD) developers and clinical laboratory and pathology group leaders understand the stake they have in pharma companies devoting more research to developing these types of drugs.
New cancer drugs combined with targeted therapies would directly impact the future of anatomic pathology and medical laboratory testing.
Targeted Therapies Cost Less, Work Better
Targeted therapies focus on the mechanisms driving the cancer, rather than on destroying the cancer itself. They are designed to treat cancers that have specific genetic signatures.
One such example of a targeted therapy is pembrolizumab (brand name: Keytruda), a humanized antibody that targets the programmed cell death 1 (PD-1) receptor. The injection drug was primarily designed to treat melanoma. However, the FDA recently expanded its approval of Keytruda to include treatment of tumors with certain genetic qualities, regardless of the tumor’s location in the body. It was the first time the FDA has expanded an existing approval.
In a Forbes article, David Shaywitz, MD, PhD, noted that pembrolizumab had “an unprecedented type of FDA approval … authorizing its use in a wide range of cancers.” Shaywitz is Chief Medical Officer of DNAnexus in Mountain View, Calif.; Visiting Scientist, Department of Biomedical Informatics at Harvard Medical School; and Adjunct Scholar, American Enterprise Institute.
Cancers with high mutational burdens respond to the therapy because they are more likely to have what Shaywitz calls “recognizable novel antigens called mutation-associated neoantigens, or MANAs.” Such cancers include melanomas, non-small cell lung cancer, some rare forms of colorectal cancers, and others.
Such therapies require genetic sequencing, and because sequencing is becoming faster and less expensive—as is the analysis of the sequencing—the information necessary to develop targeted therapies is becoming more accessible, which is part of what’s motivating pharma research.
Biomarkers and Traditional versus Modern Drug Testing and Development
At the same time pharma is developing new immunotherapies, the FDA is recognizing the benefit of faster approvals. In an FDA Voice blog post, Janet Woodcock, MD, Director of the Center for Drug Evaluation and Research (CDER) at the FDA, wrote, “In the past three years alone, [we have] approved more than 25 new drugs that benefit patients with specific genetic characteristics … and we have approved many more new uses—also based on specific genetic characteristics—for drugs already on the market.”
In his Forbes article, Shaywitz notes that pembrolizumab’s development foreshadows a “More general trend in the industry,” where the traditional phases of drug testing and development in oncology are becoming less clear and distinct.
Along with the changes to drug development and approval that precision medicine is bringing about, there are also likely to be changes in how cancer patients are tested. For one thing, biomarkers are critical for precision medicine.
However, pharmaceutical companies have not always favored using biomarkers. According to Shaywitz, “In general, commercial teams tend not to favor biomarkers and seek to avoid them wherever possible.” And that, “All things being equal, a doctor would prefer to prescribe a drug immediately, without waiting for a test to be ordered and the results received and interpreted.”
In July, just weeks after expanding its approval for Keytruda, the FDA approved a Thermo Fisher Scientific test called the Oncomine Dx Target Test. A Wired article describes it as “the first next-generation-sequencing-based test” and notes that it “takes a tiny amount of tumor tissue and reports on alterations to 23 different genes.”
Thermo Fisher’s Oncomine DX Target Test (above) is the first multi-drug next-generation sequencing test approved by the FDA. The test is a companion diagnostic for lung-cancer drugs made by Novartis and Pfizer. (Caption and photo copyright: Thermo Fisher Scientific.)
Unlike pembrolizumab, however, the Oncomine Dx Target Test did not enjoy fast-track approval. As Wired reported, “Getting the FDA’s approval took nearly two years and 220,000 pages of data,” in large part because it was the first test to include multiple genes and multiple drugs. Thus, according to Joydeep Goswami, PhD, President of Clinical Next Generation Sequencing at Thermo Fisher, “That put the technology under extraordinary scrutiny.”
FDA Encouraging Use of Biomarkers in Precision Medicine Therapies
The FDA, however, is taking steps to make that process easier. Woodcock noted in her FDA Voice blog post that the agency is actively encouraging drug developers to “use strategies based on biomarkers.” She added that the FDA currently “works with stakeholders and scientific consortia in qualifying biomarkers that can be used in the development of many drugs.”
Additionally, in a column he penned for Wired, Robert M. Califf, MD, former Commissioner of the FDA, states that the organization has “begun to lay out a flexible roadmap for regulatory approval.” He notes, “Given the complexity of NGS [next-generation-sequencing] technology, test developers need assurance as well, and we’ve tried to reduce uncertainty in the process.”
Regulations that assist IVD developers create viable diagnostics, while ensuring the tests are accurate and valid, will be nearly as important in the age of precision medicine as the therapies themselves.
All of these developmental and regulatory changes will impact the work done by pathologists and medical laboratories. And since precision medicine means finding the right drug for the individual patient, then monitoring its progress, all of the necessary tests will be conducted by clinical laboratories.
Faster approvals for these new drugs and tests will likely mean steep learning curves for pathologists. But if the streamlined regulation process being considered by the FDA works, new immunoassay tests and targeted therapies could mean improved outcomes for cancer patients.
—Dava Stewart
Related Information:
How Precision Medicine, Immunotherapy Are Influencing Clinical Trial Design for Cancer Drugs
Pharma Cooperates to Achieve Precision Medicine
The Startling History Behind Merck’s New Cancer Blockbuster
Two Recent Scientific Advances Underscore an Encouraging Future for Precision Medicine at FDA
Fast, Precise Cancer Care Is Coming to a Hospital Near You
Biomarker Trends Are Auspicious for Pathologists and Clinical Laboratories
Precision Healthcare Milestone Reached as Food and Drug Administration Clears New Multi-Marker Medical Laboratory Test to Detect Antibiotic-Resistant Bacteria
Genetic Tests and Precision Medicine Start to Win Acceptance by Some Payers; Pathologists and Clinical Laboratories Have Opportunity as Advisors
Feb 10, 2012 | Compliance, Legal, and Malpractice, Laboratory News, Laboratory Pathology
Clinical laboratory managers and pathologists can expect more companion diagnostics in responses to advances in molecular knowledge about various diseases
Recently, the Food and Drug Administration (FDA) cleared two products for market, one of which may be of particular interest to anatomic pathologists. The first product is a therapeutic drug for the treatment of late-stage skin cancer. The second product is a companion clinical laboratory test that will be used to identify skin cancer patients most likely to benefit from this new drug.
This development is attracting attention by experts watching the molecular diagnostics marketplace. That’s because both products were developed by the same company on a tight timeline and this process is likely to be much studied by other pharma companies and genetic test developers.
The company that developed the new drug and its companion diagnostic test is Roche Holdings AG (OTCQX: RHHBY). In its press release about the FDA’s decisions, the company simultaneously announced market clearance of the drug Zelboraf (vemurafenib) and the approval of the companion diagnostic, the cobas 4800 BRAF V600 Mutation Test.
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