Volume 57, Issue 3 - Special Issue: Laboratory Medicine in Digital Health: Disruptive Technologies and Processes / Issue Editors: Michael Neumaier, Ian D. Watson and Thomas Ganslandt

Predictions about the future of laboratory medicine have had a mixed success, and in some instances they have been overambitious and incorrectly assessed the future impact of emerging technologies. Current predictions suggest a more highly automated and connected future for diagnostic testing. The central laboratory of the future may be dominated by more robotics and more connectivity in order to take advantage of the benefits of the Internet of Things and artificial intelligence (AI)-based systems (e.g. decision support software and imaging analytics). For point-of-care testing, mobile health (mHealth) may be in the ascendancy driven by healthcare initiatives from technology companies such as Amazon, Apple, Facebook, Google, IBM, Microsoft and Uber.

“Liquid biopsy” was introduced as a new diagnostic concept in 2010 for the analysis of circulating tumor cells (CTCs) and has been now extended to material (in particular DNA) released by tumor cells in the peripheral blood of cancer patients. Over the past decade, various methods have been developed to detect CTCs and ctDNA in the peripheral blood of cancer patients.

Due to profound changes occurring in biomedical knowledge and in health systems worldwide, an entirely new health and social care scenario is emerging. Moreover, the enormous technological potential developed over the last years is increasingly influencing life sciences and driving changes toward personalized medicine and value-based healthcare. However, the current slow progression of adoption, limiting the generation of healthcare efficiencies through technological innovation, can be realistically overcome by fostering convergence between a systems medicine approach and the principles governing Integrated Care. Implicit with this strategy is the multidisciplinary active collaboration of all stakeholders involved in the change, namely: citizens, professionals with different profiles, academia, policy makers, industry and payers. The article describes the key building blocks of an open and collaborative hub currently being developed in Catalonia (Spain) aiming at generation, deployment and evaluation of a personalized medicine program addressing highly prevalent chronic conditions that often show co-occurrence, namely: cardiovascular disorders, chronic obstructive pulmonary disease, type 2 diabetes mellitus; metabolic syndrome and associated mental disturbances (anxiety-depression and altered behavioral patterns leading to unhealthy life styles).

Healthcare providers all over the world are faced with a single challenge: the need to improve patient outcomes while containing costs. Drivers include an increasing demand for chronic disease management for an aging population, technological advancements and empowered patients taking control of their health experience. The digital transformation in healthcare, through the creation of a rich health data foundation and integration of technologies like the Internet of Things (IoT), advanced analytics, Machine Learning (ML) and Artificial Intelligence (AI), is recognized as a key component to tackle these challenges. It can lead to improvements in diagnostics, prevention and patient therapy, ultimately empowering care givers to use an evidence-based approach to improve clinical decisions. Real-time interactions allow a physician to monitor a patient ‘live’, instead of interactions once every few weeks. Operational intelligence ensures efficient utilization of healthcare resources and services provided, thereby optimizing costs. However, procedure-based payments, legacy systems, disparate data sources with the limited adoption of data standards, technical debt, data security and privacy concerns impede the efficient usage of health information to maximize value creation for all healthcare stakeholders. This has led to a highly-regulated, constrained industry. Ultimately, the goal is to improve quality of life and saving people’s lives through the creation of the intelligent healthcare provider, fully enabled to deliver value-based healthcare and a seamless patient experience. Information technologies that enable this goal must be extensible, safe, reliable and affordable, and tailored to the digitalization maturity-level of the individual organization.

Medical care is increasingly delivered by multiple providers across healthcare sectors and specialties, leading to a fragmentation of the electronic patient record across organizations and vendor IT systems. The rapid uptake of wearables and connected diagnostic devices adds another source of densely collected data by the patients themselves. Integration of these data sources opens up several potentials: a longitudinal view of laboratory findings would close the gaps between individual provider visits and allow to more closely follow disease progression. Adding non-laboratory data (e.g. diagnoses, procedures) would add context and support clinical interpretation of findings. Case-based reasoning and disease-modelling approaches would allow to identify similar patient groups and classify endotypes. Realization of these potentials is, however, subject to several barriers, including legal and ethical prerequisites of data access, syntactic and semantic integration, comparability of items and user-centered presentation. The German Medical Informatics Initiative is presented as a current undertaking that strives to address these issues by establishing a national infrastructure for the secondary use of routine clinical data.

During recent years, the digital revolution has changed the face of societies including industrial production, economies and peoples’ social lives. From these changes we may extrapolate the developments that digitization of health care will bring to medicine in general and laboratory medicine in particular. Disruptive technologies will fundamentally change the way laboratory tests are going to be ordered, carried out and interpreted in the future, and test results from various sources need to be curated to be of added value for the patient’s condition. Wearables and implantables will quantify the concentrations for an unknown number of laboratory parameters, and the data will be stored in cloud services at the fingertips of the patient as the sovereign of his/her health care data. A 24/7 online availability of health services will strengthen predictive medicine and may enable a vastly improved preventive health care that is supported by deep-learning algorithms for clinical decision-making not only on behalf of the physician, but also the empowered patient (e.g. health bots). This will likely shift the current role of Laboratory Medicine as a central provider of diagnostic information from a “hidden champion” towards a higher visibility redefining the patient-physician-laboratory relationship. For example, accessing digital health data will allow Laboratory Medicine to more efficiently contribute to the medical dialog than is often the case today. From this perspective, this will require major readjustments in the way we execute our profession, and it will also need new concepts of education and continuous professional development.

A number of current trends will affect and probably change laboratory medicine, as we know it. Scientific and technological developments, digital health with big data and artificial intelligence, and centralization will change the interfaces among the specialties of laboratory medicine. They might even challenge the identity of some specialties. Other trends such as demographic changes, increased complexity of health care, digital health with electronic health records, and more demanding and well-informed patients will change the way laboratory medicine specialties deliver their services. This paper discusses the possible changes of laboratory medicine in Denmark – a Scandinavian country where almost all hospitals are public. If Danish laboratories grasp the new possibilities instead of trying to avoid them, laboratory medicine is likely to prosper. Such a positive development will call upon good leadership and a genuine willingness among laboratory specialist to adapt to a future where their own specialty might be very different from today.

The classical role of the clinical laboratory, seen as the central place where the samples converge and from where the results are distributed, will be challenged by the development of digital health, the application of information technology (big data) and genomics to health care. When the development of disruptive new technologies will allow the production of accurate results outside the laboratory, its role will dramatically change. However, several factors are slowing down these evolutions. The quality of the existing data is relatively poor: lack of standardization of results, different units, different reference intervals, etc. The lab-on-a-chip technology is still relatively far from broad range application and the costs are higher than the traditional methods. There is the need for regulations of direct to consumer approaches that are posing big ethical problems. In the future, the clinical laboratory will maintain part of the “classical” role in the areas of research education and services. The large production will continue, favored by consolidation and reduction of the number of laboratories. The specialists of laboratory medicine have the task of collaborating with the national scientific societies and with the industry for improving harmonization of all the production phases, thus allowing the production of meaningful big data. Clinical laboratories have the role of implementing translational medicine. The new point-of-care (POC) technologies still need validation, the clinical laboratory is the place to do it. The advisory role toward clinicians and patients has to be improved, and a role in validating laboratory data interpretation apps and in controlling and supervising the functionality and the quality of the POC devices has to be developed.

People are increasingly able to access their laboratory results via patient portals. The potential benefits provided by such access, such as reductions in patient burden and improvements in patient satisfaction, disease management, and medical decision making, also come with potentially valid concerns about such results causing confusion or anxiety among patients. However, it is possible to clearly convey the meaning of results and, when needed, indicate required action by designing systems to present laboratory results adapted to the people who will use them. Systems should support people in converting the potentially meaningless data of results into meaningful information and actionable knowledge. We offer 10 recommendations toward this goal: (1) whenever possible, provide a clear takeaway message for each result. (2) Signal whether differences are meaningful or not. (3) When feasible, provide thresholds for concern and action. (4) Individualize the frame of reference by allowing custom reference ranges. (5) Ensure the system is accessible. (6) Provide conversion tools along with results. (7) Design in collaboration with users. (8) Design for both new and experienced users. (9) Make it easy for people use the data as they wish. (10) Collaborate with experts from relevant fields. Using these 10 methods and strategies renders access to laboratory results into meaningful and actionable communication. In this way, laboratories and medical systems can support patients and families in understanding and using their laboratory results to manage their health.

In laboratory medicine, consultation by adding interpretative comments to reports has long been recognized as one of the activities that help to improve patient treatment outcomes and strengthen the position of our profession. Interpretation and understanding of laboratory test results might in some cases considerably be enhanced by adding test when considered appropriate by the laboratory specialist – an activity that was named reflective testing. With patient material available at this stage, this might considerably improve the diagnostic efficiency. The need and value of these forms of consultation have been proven by a diversity of studies. Both general practitioners and medical specialists have been shown to value interpretative comments. Other forms of consultation are emerging: in this time of patient empowerment and shared decision making, reporting of laboratory results to patients will be common. Patients have in general little understanding of these results, and consultation of patients could add a new dimension to the service of the laboratory. These developments have been recognized by the European Federation of Clinical Chemistry and Laboratory Medicine, which has established the working group on Patient Focused Laboratory Medicine for work on the matter. Providing proper interpretative comments is, however, labor intensive because harmonization is necessary to maintain quality between individual specialists. In present-day high-volume laboratories, there are few options on how to generate high-quality, patient-specific comments for all the relevant results without overwhelming the laboratory specialists. Automation and application of expert systems could be a solution, and systems have been developed that could ease this task.

This paper examines the implications for laboratory staff of the technological changes enabling patients to have easy and quick access to their laboratory test results often without speaking with a health care professional. The needs of patients to receive results in easily understandable forms are described. The importance of sharing the concept of uncertainty with patients is discussed and explored including the challenges that this can create for staff.

This position paper presents the role of laboratory test results in traditional general practice and provides a recommendation for responsible sharing of results with patients for improved safety, efficiency and outcomes. This paper looks at the relationship between the laboratory, the general practitioner consultation, the patient, safety and general practice capacity. We suggest changes in the traditional practice of communicating laboratory test results whereby normal or abnormal results are made available to patients as soon as they become available. We also endorse the opinion that using online tools such as email or text messages could enhance the provision of rapid access to laboratory test results for patients.

Technological change is driving individualized healthcare delivery including laboratory medicine. Ensuring patients gain from their empowerment it is essential that they access data that enables them to utilize reliable information. The potential difficulties of comprehension, information retention and imperfect modes of communication can significantly impair utilization of information by patients. Support for understanding and decision-making needs to be clinically competent and integrated within the healthcare team. Specialists in laboratory medicine are well placed to undertake such a role, the issues around this are explored and proposals for better direct engagement with patients made.

Background Many of the mobile applications (apps) used for delivering health interventions involve laboratory medicine data. This survey was conducted to search the online market for health apps that manage laboratory medicine data. The aim was to review them and perform a quality evaluation. Methods Apps search criteria were “Lab results blood work”, “Lab results”, and “Health apps”. After the stepwise exclusion process, 52 selected apps were downloaded and analyzed. For review and content analysis of the apps, a multidimensional tool for classifying and rating the quality of mobile health apps – Mobile App Rating Scale (MARS), was used. Results Selected apps were classified into five categories according to their intended use by patients or physicians, and the type of data engaged. Spearman’s correlation analysis found significant correlations between MARS individual scoring items, as with the subjective quality and number of technical aspects. Kruskal-Wallis analysis showed a significant difference in the number of technical aspects employed, MARS engagement and informational quality score items, total score, and subjective quality. The lowest values for all of these items were in the category of apps designed for patients, and the post hoc test showed that the difference was statistically significant between this and the values in all other categories. Conclusions Apps designed for patients, are of the poorest quality, considering the total quality of the content and information they provide, estimated using the MARS tool. This estimation needs to be validated for laboratory medicine apps, and eventually modified after consideration of specific quality benchmarks.

The 20th century digital revolution has already seen the introduction of faster, more diverse, easier to use technologies with extended capacity and capability that has enhanced productivity in Laboratory Medicine and allowed more effective use of human resource. With increasing demands for better health and best care the challenge to future healthcare systems is to deploy technology, facilities and human resources more effectively. For the 21st century the digital age heralds opportunities for information-led technology providers to become healthcare providers when algorithm driven care can support patients’ needs at the point of care close to or in their homes. For Specialists in Laboratory Medicine the opportunity arises for working beyond the laboratory in partnership with the emerging providers. The challenge to specialists is to extend their skill and competence to leadership roles that (a) determine clinical need and strategic direction for local environments, (b) ensure technology solutions are cost-effective, safe and reliable, (c) assume the business acumen to market, negotiate and manage change in services, (d) expect understanding of the clinical bioinformatics that underpin genomics, health information science (data mining and health economics) and physical sciences (e) expect knowledge and skills in the provision of direct clinical care in the face of staffing shortfalls experienced by many healthcare systems and (f) enhance their communication and interactive skills. In growing their leadership contribution a partnership approach in education and training across healthcare divides, in conjunction with the diagnostics and/or information technology industries, through integrated professional organisation approaches, joint approaches with academia and policy related healthcare organisations is recommended.