New Levels Of Diagnostic Resolution

With hundreds of products across lab disciplines, including instrumentation, automation, and tests available, clinical diagnostics businesses are focused on developing revolutionary technologies.

The high stakes in diagnostic technology are obvious. Every day lives depend on how fast doctors can receive sophisticated lab test results. Point-of-care (PoC) tests can impact life-and-death treatment decisions. Molecular tests determine if a cancer patient is a candidate for a breakthrough therapy. A lab test can let someone know if they have an infectious disease. Blood donations are screened to ensure the safety of the blood supply. Getting information to help make a quick, accurate diagnosis is critical to every facet of modern medicine. In fact, researchers have estimated that diagnostic tests influence up to 70 percent of all critical clinical decisions. We all share the goal of accelerating development of and access to new, groundbreaking medical advances that have the potential to greatly improve patient health and well-being. For patients and their families, a diagnostic test is often the first step toward a treatment plan that can attack cancer at its core, and accurate and reliable diagnostics are necessary to make the best decisions. Diagnostic reform is not only essential for care delivery today, but it will serve as the backbone for ensuring that patients continue to benefit from ever more personalized therapies going forward.

Innovative clinical diagnostics tests and technologies are the foundation for evidence-based medicine, allowing for early intervention that improves patients’ health outcomes, often lowering costs for the broader health system. A modernized and predictable, risk-based, diagnostics regulatory framework would speed the pace and reach of cutting-edge diagnostics, allowing patients to benefit more broadly and rapidly from breakthrough diagnostic technologies. The focus on developing such breakthrough technologies has continued as the manufacturers look to address the most pressing concerns in healthcare. With hundreds of products across lab disciplines, including instrumentation, automation, and tests in the areas of infectious disease, cardiac testing, oncology, metabolics, and many more, clinical diagnostics businesses are focused on developing revolutionary technologies to improve healthcare.

In recent years, the business of operating the diagnostic laboratory has changed dramatically. The lab is a connected production environment and a primary generator of data, which requires the delivery of increased efficiency driven through lean workflows. And as the modern clinical laboratory becomes more connected, it becomes increasingly difficult to efficiently exchange and manage data. This is especially true with regard to interoperability, where data is exchanged among several clinical systems. Laboratories have long stressed efficiency, safety, and quality in the management of diagnostic data; however, the focus has primarily been on the analytical phase. But the trends toward lab automation and increasing testing require that laboratories constantly adapt to ever-changing data management requirements in all phases of the testing process. To meet expectations, laboratories have implemented laboratory information systems (LIS) as well as demanded analytical instruments with more powerful and sophisticated data management solutions. Integrated instruments can help coordinate various processes, from managing test orders, to monitoring samples, to validating final test results.

Development of sophisticated and specialized tests for early disease detection and disease management and increasing demand for lab automation will likely drive the growth of clinical diagnostics market. The rapidly rising use of PoC diagnostic products has introduced a decentralization trend in the healthcare industry. Patients and healthcare facilities in an attempt to encourage early diagnosis, to cater medical facilities remotely, and curb costs are now decentralizing their facilities. A wide array of clinical tests facilitate healthcare specialists with the ability to detect disease progression which also include blood and urine test ranging from simple to complex, molecular expression genetic analysis and various medical chemistry panels.

Moreover, the growing rate of chronic diseases such as diabetes, heart failure, and colon cancer; increasing demand for personalized medicine; expanding geriatric population base; and growing patient awareness toward disease diagnosis will also lead the clinical diagnostics market growth.

Indian market

The Indian in-vitro diagnostics (IVD) market is estimated to grow at a CAGR of 7 percent from 2018 to 2023, predicts Mordor Intelligence. IVD has witnessed several changes and additions to its gamut of offerings in the recent past. There has been a paradigm shift from traditional diagnostics to a new generation diagnostics that work on gene level. This change was possible only due to the inclusion of advanced technology, such as genetic testing, molecular diagnostics, polymerase chain reaction (PCR), and next-generation sequencing (NGS). Fast turnaround, reliability, user-friendliness, and predictability of predisposed diseases are a few significant qualities that are making these technologies attain their share in major offerings of diagnosis providers around the world.

An increasing demand from the educated public for more information about their predisposition for serious diseases, and how these potential illnesses can be detected at an early stage are the factors driving the market. This factor has been posing a significant growth in the market, with the entry of several new technologies that are being adopted by primary end-users, such as hospitals, clinics, and laboratories. The advantages of these new and upcoming technologies, such as precision, resourcefulness, portability, and efficiency, are expected to fuel the market growth further. Based on usability of IVD devices, the disposable devices segment led the Indian IVD market with approximately 70 percent of the share in 2017. This share is expected to further increase over the years, due to the emergence of PoC testing and the growing demand for portable diagnostic devices.

The lack of a proper reimbursement system is the major concern for the IVD market. The process of securing reimbursement and funding for a diagnostic test in India is extremely challenging. Stakeholders need to recognize the knowledge required by the payers/purchasers. This fact asks for the extensive research and interpretation of a very large amount of data.

Strategies are required to be altered as per the target market, making it a really cumbersome and tedious task. Moreover, the developers and marketers of IVD tests have to go through a time-consuming and resource-intensive regulatory procedure, in order to bring their test to the market.

Global market scenario

The global clinical laboratory test market is expected to reach USD 324.5 billion by 2022 from USD 220.1 billion in 2017, growing at a CAGR of 6.5 percent, predicts Market Research Future. Increasing prevalence of diseases, growing population, increase in global volume of IVD tests, and increasing patient awareness are some of the growth drivers of the market globally. However, government rules and regulations is the major factor which is restricting the growth of the market. The market has high growth opportunities in future due to various untapped therapeutic testing market and expansion that can happen.

The market may broadly be segmented into clinical laboratory testing and PoC testing. There are more than 4000 different diagnostic tests available today and have been divided into lipid panel, complete blood count, HbA1c tests, HGB/HCT, BUN creatinine, liver panel, electrolytes testing, basic and comprehensive metabolic, and renal panel tests. The lipid panel test is anticipated to be the fastest growing segment due to the high prevalence of obesity and cholesterol related disease. The PoC diagnostics market is expected to show a significant growth rate owing to the growing geriatric population base, the ability of PoC diagnostic tests to render immediate results and hence improved patient care and rising market penetration of PACS (picture archiving and communication systems) and EMR (electronic medical records).

Mergers and acquisitions with other companies and other small players is the key strategy adopted by major players. In January 2017, LabCorp acquired assets of Mount Sinai Health (Mount Sinai), one of the largest healthcare systems in New York City. Mount Sinai’s Clinical Outreach Laboratories have given the company, an opportunity to serve and anchor the health system in the critical New York metro market. In January 2017, Quest diagnostics launched hepatitis B virus quantitative test to help access response to anti-viral therapy. The test is significant because it may help physician’s tailor more effective treatments for up to 2.2 million individuals infected with HBV. The company also partnered with Montefiore Health System, a premiere academic health system. In February 2017, Quest Diagnostics and PeaceHealth initiated the company’s expansion by increasing access to innovative, high-value laboratory services in the Pacific Northwest.

Many of the largest names in life sciences have already entered the clinical diagnostics space, either with new medical instruments or by acquiring smaller companies comfortable in the industry with established product lines. For instance, in October 2017, Abbott acquired Alere Inc., a global manufacturer of rapid PoC diagnostic tests; in November 2017, Illumina introduced their NextSeq 550Dx system, the company’s second FDA-approved and CE-IVD marked NGS system. The company’s MiSeq sequencer has also been FDA-approved to include the use of DNA libraries generated from formalin-fixed paraffin embedded (FFPE) tissues, paving the way for clinical labs to use FFPE samples when developing clinical tests for new applications. Also in November 2017, Fabric Genomics announced a solution for somatic mutations in cancer, which enables clinical labs that perform cancer NGS testing to quickly convert genomic insights to targeted therapies.

In the past two years, Waters, Roche, Thermo Fisher Scientific, Luminex, CombiMatrix, Hologic, and several other companies have also received FDA or EU IVD approval for various instruments and techniques in and around the clinical diagnostics space. These approvals cover a wide variety of topics, such as cancer diagnosis and treatment, stillbirth genetic testing, blood testing, virus detection and differentiation, among others. Other prominent players in the global market include Siemens Healthineers, Danaher Corporation, Abbott Laboratories, Johnson & Johnson, Becton, Dickinson and Company, Bio-Rad Laboratories, Sysmex, bioMérieux, DiaSorin, Ortho Clinical Diagnostics, Agilent Technologies, and Qiagen.

Technological trends

Recent advancements in bioanalytical techniques have led to the development of novel and robust diagnostic approaches that hold promise for providing optimal patient treatment, guiding prevention programs and widening the scope of personalized medicine. However, these advanced diagnostic techniques are still complex, expensive, and limited to centralized healthcare facilities or research laboratories. This significantly hinders the use of evidence-based diagnostics for resource-limited settings and the primary care, thus creating a gap between healthcare providers and patients and leaving these populations without access to precision and quality medicine. Smartphone-based imaging and sensing platforms are emerging as promising alternatives for bridging this gap and decentralizing diagnostic tests offering practical features such as portability, cost-effectiveness, and connectivity. Moreover, toward simplifying and automating bioanalytical techniques, biosensors and lab-on-a-chip (LoC) technologies have become essential to interface and integrate these assays, as well as to bring together the high precision and sensitivity of diagnostic techniques with the connectivity and computational power of smartphones.

Several PoC tests including blood glucose test, blood gas and electrolytes analysis, rapid coagulation testing, rapid cardiac markers diagnostics, drugs of abuse screening, urinary strip testing, pregnancy testing, fecal occult blood analysis, hemoglobin diagnostics, infectious disease testing, and cholesterol screening, among others are based on enzymatic reactions or immune reactions; currently, very few genetic PoC testing tools are available. The advantages of PoC testing methods are their convenience, quick response, and low cost. Rapid and immediate responses allow patients, physicians, and care teams to make immediate clinical management decisions. Recently, PoC devices have become connected to hospital electronic medical record systems, and the results can be shared instantaneously with all members of the medical team through the software interface to enhance communication by decreasing turnaround time. LoC and microfluidic chips have been intensively studied because of their potential role as a PoC method for molecular diagnosis. LoC’s require extremely small fluid volumes at approximately the picoliter level. With the advantages of low fluid volume consumption and lower reagent cost, faster analysis and response times, better reaction control, smaller system size, medium- to high-throughput analysis, lower fabrication costs, and safer and simple platform, LoCs will become widely used in the clinic in the near future.

A smartwatch has been demonstrated to do everything from predicting the onset of seizures in patients with epilepsy, to detecting the falls of an elderly adult. From psychiatric disorders to cancer, precision medicine is revolutionizing the practice of medicine. In particular, the myriad applications and explosion of data from molecular diagnostics and genetic testing represent another distinct challenge concerning how to manage this data, determining at which level the data should be retained and how it can be applied most effectively. Children’s hospitals, academic medical centers, cancer centers, and even psychiatrist’s offices are pioneering precision medicine and the application of advanced genetic testing to make mainstream medicine a reality.

Take cancer as an example. For decades, pathologists have been diagnosing cancer using anatomic pathology techniques from extracted tissue obtained through biopsies. But cancer is fundamentally a genetic disease. Solely relying on a stained slide to determine cell morphology of a tumor is the metaphorical equivalent of a mechanic diagnosing car troubles by looking at it – it may have sufficed in the past, but we now know cancer is too complex for that. Just as a mechanic wants to know what the machinery inside the car reveals through an onboard computer, genetics can inform a pathologist of the inner workings of a tumor by providing its unique genetic signature. Using this genetic information, drugs and treatment programs can be prescribed based not only on the organ from which the tumor was extracted and the shape of the cells, but tailored to specific genetic errors found within the tumor.

A new class of diagnostic instruments

Increasing awareness of the role of IT in improving the management of diagnostic information, as well as their ability to optimize workflow and improve turnaround time, has resulted in increased focus on more sophisticated instruments in diagnostics. In turn, this has led to trends in clinical diagnostic instruments such as random-access testing, bi-directional interfacing capabilities, and advance order, and results data management features associated with LIS integration. Traditionally, random access and bi-directional LIS interfaces are characteristic of analyzers in the core laboratory (e.g., chemistry and hematology). However, with the trend toward random access instead of batch testing in molecular diagnostics, bi-directional LIS functionality has found its way into the diagnostic lab. The relationship between bi-directional interfaces and random-access testing presents several implications for diagnostic laboratories in terms of detecting errors and improving pre- and post-analytical data management processes.

It is evident that instruments with the most flexible and connectivity-based features are more suited to play a greater role in meeting the data management needs of the modern diagnostic laboratory since the clinical laboratory is a relatively high-risk environment with the possibility of error in several key areas of the testing process. Errors are more significant in the pre-analytical phase, which can significantly affect patient safety and quality of care. Focusing on the pre-analytical steps that are presented in the laboratory, errors can occur when test orders are programmed into the instrument, in specimen identification, or in specimen receipt. Instruments with bi-directional LIS interfaces can help laboratories optimize workflow and reduce errors by managing some of these pre-analytical data management steps.

A bi-directional instrument simplifies test order management and automates test order entry, which saves the laboratorian the time to program test orders into the instrument and eliminates manual entry errors. Particularly, instruments with advance broadcast bi-directional capabilities provide process controls that allow staff to load any specimen and be assured that the proper test information is available to process the specimen, which eliminates the risk of order misinterpretation or incorrect container. These capabilities are particularly important in high-throughput laboratories facing staff shortages. In high-throughput laboratories, medical devices with advance data management features present significant process controls and workflow optimization to minimize the potential for error in the total testing process. Consider an instrument without bi-directional capability. Following the transmission of the clinician’s test order, the laboratory requires that specimen transport, preparation, and sample accessioning happen prior to the analytic phase. All of these are manual steps that are prone to error.

For example, if a specimen is not properly accessioned, it could take multiple hours until the ordering clinician realizes the test result has not been reported within the expected turnaround time, and before the lab is even aware of having to locate a misdirected specimen. If or when the specimen is located, it must be processed, likely as a STAT result, given the delay before realizing the sample has not yet been run. In contrast, with an instrument that has advanced data management features such as bi-directional LIS, an interfaced instrument would have visibility to the queue of pending test orders from the LIS. In addition, considering an instrument that has intelligent alert notification features that the laboratory staff can configure, if a specimen was not processed by the instrument within a pre-set period of time, an alert could be sent to the relevant supervisor or laboratorian, proactively making him or her aware of the overdue pending test order and allowing him or her to take action before receiving a call from the floor. These types of advance capabilities can help reduce errors such as lost specimen and delayed reporting of results, and can help improve laboratory service levels and customer satisfaction.

Bi-directional instrument with advanced data management features can automate post-analytical steps to eliminate reporting errors and improve the turnaround time of results. These instruments can manage results reporting by applying rules and logic to either auto-validate results for auto-release to the LIS, or hold specific or unusual results for review or rerun. With auto-validation features, the laboratory staff is not required to review every result, and the turnaround time for non-infectious patients can be improved, both helping streamline bed management and ED wait times and allowing the clinical staff to focus on patients who require intervention such as therapy or isolation. Given this level of process control, instruments with rules-based auto-validation features can help to improve staff productivity, since the manual review of result reports is consistently performed without manual intervention, which in turn also optimizes workflow.

Outlook

As we enter the era of mainstream application of precision medicine, tailored therapeutics, wearables, and artificial intelligence, the importance of diagnostics’ role will continue to grow and the definition of what constitutes a diagnostic test will continue to evolve. This is encouraging news as the earlier almost any medical condition is detected, the better the outcomes for that patient and their family and the greater the potential for savings to the healthcare system. Diagnostic testing traditionally has been confined to testing performed directly at the healthcare facility or laboratory. The future of diagnostics incorporates these traditional modalities and many more that new technology enables – from medical implants that beam data to a smartphone, to smartwatches that actively monitor vital signs 24/7.

With the explosion of genetic information and biological databases, it is important for any organization that wants to incorporate precision medicine into its portfolio to have a variant knowledgebase. Software tools can help manage these complex and continuously evolving datasets. The technologies stated above are the tip of the iceberg when it comes to the future of integrated diagnostics. The power of marrying different diagnostic modalities – clinical testing, anatomic pathology, molecular testing, and imaging with the patient record and population-level data containing aggregated data on similar patients – brings new levels of diagnostic resolution.

Combining the individual testing approaches will generate more accurate and earlier diagnoses and provide a more holistic picture of the patient and the most effective treatment. The conversation should not center on the amount of data that a new technology is producing, but on how this data can be best leveraged to empower clinicians with the appropriate diagnostic information and insights. Technology holds the key to bringing together all key patient and medical data in one location, so that clinicians have a clear and intuitive view of a patient’s status across the pathway, from early detection, diagnosis, treatment, and homecare. 

In the future, an optimal diagnosis system that can analyze the body status with just with a single drop of blood is expected to be developed. However, a simple, inexpensive, and portable diagnostic tool is currently required. It is not easy to predict which type of diagnostic tools will become dominant, but PoC testing with molecular diagnostic functions is a strong candidate. Currently, most PoC devices have stand-alone type features. Thus, they require additional supporting systems for sample preparation, clinical data integration, and automatic processing.

However, in the future, all of these systems will be integrated into a single system to facilitate users’ convenience. And as diagnostic laboratories look to fine-tune their approaches to optimize data processing, staff productivity, and workflow, they should consider all aspects of the testing process to improve quality, productivity, and patient safety. The data management capabilities of instruments and the benefits they provide when integrated with the LIS support laboratory productivity, enhance patient outcomes by streamlining results reporting, and reduce the risk of medical errors that may lead to adverse events.