Clinical Chemistry and Molecular Diagnostics

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in Clinical and Molecular Diagnostics laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. Clinical genomics is the use of genome sequencing to inform patient molecular diagnosis and care. Clinical genomics is a new and rapidly-changing field. Knowledge of the human genome is far from complete, but there are already uses for genetic and genomic information in the clinic.

        Genome sequencing is expected to have the most impact in:

Ø  characterising and molecular diagnosing rare and inherited disease;

Ø  stratifying individuals’ tumours to guide treatment (precision medicine);

Ø  providing information about an individual’s risk of developing disease or their likely response to treatment (health management)

               A major focus of genomic medicine is cancer diagnosis and therapy. Clinicians are beginning to use genomic information to predict how a person's cancer will respond to drug therapy or surgery.

               In some cases, clinicians will profile the DNA and RNA of tumour cells to guide the use of existing treatments or focus on more targeted treatments.

The clinical practice of Immunology, as defined by the World Health Organisation (WHO) encompasses clinical and laboratory activity dealing with the study, diagnosis and management of patients with diseases resulting from disordered immunological mechanisms, and conditions in which immunological manipulations form an important part of therapy. The clinical work of Immunologists is largely out-patient based and involves primary immunodeficiency, allergy, autoimmune rheumatic disease and systemic vasculitis (jointly with Rheumatologists), joint paediatric clinics for children with immunodeficiency and allergy and immunoglobulin infusion clinics for patients with antibody deficiency. On the laboratory front, Consultant Immunologists are responsible for directing diagnostic immunology services and perform a wide range of duties including clinical liaison, interpretation and validation of results, quality assurance and assay development.

Clinical immunology is the branch of Immunology that deals with studies of diseases caused due to immune system disorders. Clinical Immunology falls into two categories Immunodeficiency and Autoimmunity. Immunodeficiency is a category in which adequate response is not provided by the immune system. Whereas in Autoimmunity the immune system attacks its own host body.

Autoimmunity occurs when an organism develops an immune response against itself, resulting in an inflammatory reaction which damages organs such as brain, joints or pancreas. This results in diseases such as Type 1 diabetes, vasculitis, or rheumatoid arthritis. A fine balance exists in order to accommodate the control of microbial pathogens and commensals, and immune self-tolerance.                   

Clinical Microbiology is a branch of medical science concerned with the prevention, diagnosis and treatment of infectious diseases. Moreover, this field of science is concerned about various clinical applications of microbes for the improvement of health. There are four kinds of microorganisms that cause infectious disease: bacteria, fungi, parasites and viruses. It  is the adaptation of microbiological techniques to the study of the etiological agents of infectious disease. In this one can explore nature of infectious disease and test the ability of various antibiotics to inhibit or kill the isolated microorganisms. The invasion and multiplication of microorganisms such as bacteria, viruses, and parasites that are not normally present within the body is called infection.

Now days due to mutation and continuous adaptability of microbes to the changing environment there are vast number of diseases that are to be studied for betterment of the humankind. Research in clinical microbiology mainly includes studying various aspects of microbes including virulence factor of the microbe.

Therapeutic Drug Monitoring and analysis is a measurement of drug concentrations as a guide to the optimal prescription of drugs. Ensuring that patients are taking the most effective dose of a drug is key to any drug treatment plan.  Assays have been developed to measure the active pharmaceutical ingredient, and, where appropriate, metabolites that have a pharmaceutical effect or reflect key parameters of excretion. We offer validated assays supported by participation in external proficiency testing programmes for a variety of different drugs, including the following groups:-

- Antifungals

- Antibiotics

- Cardiac Drugs

- Immunosuppressant

In addition to the healthcare sector, we also offer a prompt service for patients undergoing rehabilitation from drugs of abuse. Our therapeutic drug monitoring assays have been developed to ensure that results are delivered within the clinically relevant time period.

Evaluation of Molecular Diagnostic Biomarkers A biomarker is a characteristic that is objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. It used to detect or confirm presence of a disease or condition of interest or to identify individuals with a subtype of the disease. Medical practice requires accurate diagnosis of diseases and conditions. Molecular Diagnostic biomarkers are used for the critical determination of whether a patient has a particular medical condition for which treatment may be indicated or whether an individual should be enrolled in a clinical trial studying a particular disease. As is becoming increasingly appreciated, many diseases have subtypes with markedly different prognoses or responses to a specific treatment.   

Purpose or uses of a test or biomarker: 1. Diagnosis, 2. Disease classification, 3. Risk stratification, 4. Disease prognosis, 5. Treatment stratification, 6. Treatment monitoring and 7. Population screening. 

Benefits:   A new body should be established to ensure the evaluation of molecular diagnostic tests

A publically available database be created of new and existing laboratory tests – a ‘molecular diagnostics formulary’ – containing evidence for clinical performance, and explicitly stating where any evidence is lacking. Policy makers and industry should be encouraged to address issues around gathering the necessary evidence for clinical evaluation.

Disease-oriented Topics (Cardiovascular Disease, Cancer Diagnostics, Diabetes) Collectively, cardiovascular disease (including stroke), cancer, and diabetes account for approximately two-thirds of all deaths in the United States and about 700 billion US dollars in direct and indirect economic costs each year. Current approaches to health promotion and prevention of cardiovascular disease, cancer, and diabetes do not approach the potential of the existing state of knowledge. A concerted effort to increase application of public health and clinical interventions of known efficacy to reduce prevalence of tobacco use, poor diet, and insufficient physical activity-the major risk factors for these diseases-and to increase utilization of screening tests for their early detection could substantially reduce the human and economic cost of these diseases. In this article, the American Cancer Society, the American Diabetes Association, and the American Heart Association review strategies for the prevention and early detection of cancer, cardiovascular disease, and diabetes, as the beginning of a new collaboration among the three organizations. The goal of this joint venture is to stimulate substantial improvements in primary prevention and early detection through collaboration between key organizations, greater public awareness about healthy lifestyles, legislative action that results in more funding for and access to primary prevention programs and research, and reconsideration of the concept of the periodic medical checkup as an effective platform for prevention, early detection, and treatment.

Clinical chemistry reagents and instruments that utilize the latest formulations and technologies for quantitative determination of substrates, enzymes, and electrolytes in human serum, plasma, or urine. To complement our general chemistry reagents, it has both semi-automated analyzers and fully-automated analyzers. On the basis of products and services, the market is segmented into reagents & kits, instruments, and services & software. The reagents & kits market is expected to grow at the highest CAGR of the market in the forecast period. Growth in the reagents & kits segment is driven by advancements, such as automation and high-throughput technologies in instruments.

Based on technology the market is segmented into PCR, INAAT, microarrays, hybridization, DNA sequencing, Next-generation sequencing (NGS) and other technologies (electrophoresis, flow cytometry, and mass spectrometry). Among these technologies, PCR is expected to command the largest share and microarray is expected to be the highest growing segment. The large share of this segment is primarily attributed to the growing use of PCR in proteomics & genomics, automation of PCR instruments, and emergence of advanced technologies like qRT-PCR.

 Current and Emerging Products

- Analysis of current and emerging clinical chemistry and molecular diagnostic tests.

- Review of current instrumentation technologies, and feature comparison of high-, medium-, and low-volume/POC analyzers.

Technology Review

 - Assessment of current and emerging technologies, and their potential market applications.

 - Companies developing or marketing new technologies and products by test

Clinical pathology cares with the identification, treatment, and interference of health problem. Clinical pathologists unit doctors with special coaching job World Health Organization sometimes direct all of the special divisions of the laboratory research, which might embrace the bank, clinical chemistry and biology, toxicology, haematology, medical specialty and medical science, and biological science. Hematopathology or hemopathology is that the branch of pathology that studies diseases of hemopoietic cells. Transfusion is that the branch of medication that is committed the transfusion of blood and blood components. Medical biological science may be a branch of medication committed the hindrance, identification and treatment of infectious diseases. Immunopathology may be a branch of medication that deals with immune responses reated with unwellness. It includes the study of the pathology of associate degree organism, organ system, or unwellness with regard to the system, immunity, and immune responses.

Clinical Research is a part of healthcare science that determines the safety and effectiveness (efficacy) of medications, devices, diagnostic products and treatment regimens intended for human use. These may be used for prevention, treatment, diagnosis or for relieving symptoms of a disease. Clinical research is different from clinical practice. In clinical practice established treatments are used, while in clinical research evidence is collected to establish a treatment. Clinical research refers to the entire catalogue of a drug/device/biologic, in fact any test article from its inception in the lab to its introduction to the consumer market and beyond. Once the promising candidate or the molecule is identified in the lab, it is subjected to pre-clinical studies or animal studies where different aspects of the test article are studied.

Different types of clinical research are used depending on what the researchers are studying. Below are descriptions of some different kinds of clinical research.

Ø  Treatment Research generally involves an intervention such as medication, psychotherapy, new devices, or new approaches to surgery or radiation therapy.

Ø  Prevention Research looks for better ways to prevent disorders from developing or returning. Different kinds of prevention research may study medicines, vitamins, vaccines, minerals, or lifestyle changes.

Ø  Diagnostic Research refers to the practice of looking for better ways to identify a particular disorder or condition.

Ø  Screening Research aims to find the best ways to detect certain disorders or health conditions.

Ø  Quality of Life Research explores ways to improve comfort and the quality of life for individuals with a chronic illness.

Ø  Genetic studies aim to improve the prediction of disorders by identifying and understanding how genes and illnesses may be related. Research in this area may explore ways in which a person’s genes make him or her more or less likely to develop a disorder. This may lead to development of tailor-made treatments based on a patient’s genetic make-up.

Ø  Epidemiological studies seek to identify the patterns, causes, and control of disorders in groups of people.

Clinical pharmacology deals with study of drugs and their clinical use. It is supported by the basic science of pharmacology, with added focus on the application of pharmacological principles and quantitative methods. It has a wide scope, from the discovery of new target molecules to the effects of drug usage in whole populations. Clinical Toxicology is processes with are involved with the different forms of toxic chemicals and they associated with the different forms of diseases. It typically coincides with other sciences like as biochemistry, pharmacology and pathology.

Clinical Pharmacology and Toxicology aims to develop coherent means to modify drug therapy, with respect to the patients genotype, and to ensure maximum efficiency with minimal contrary effects. Clinical Pharmacology & Toxicology is the all-encompassing and becoming an increasingly important discipline for the identification of disease targets and drug designing with their toxicological effects and means to eradicate diseases. It would address the issues and provide the readers with the essentials of the science and theory behind these disciplines, also giving practical applications of various methods for better understanding of modern drug design and development. It concentrates on the complicated aspects, psychological and most probably physical addiction to drugs despite of its detrimental consequences and increased tolerance with their toxicological effects and their therapies.

Clinical pharmacy is a health science discipline in which pharmacists provide patient care that optimizes medication therapy and promotes health, and disease prevention. The pharmacist verifies the legality, safety and appropriateness of the prescription order, checks the patient medication record before dispensing the prescription (when such records are kept in the pharmacy), ensures that the quantities of medication are dispensed accurately, and decides whether the medication should be handed to the patient, with appropriate counselling, by a pharmacist. The pharmacist can participate in arrangements for monitoring the utilization of drugs, such as practice research projects, and schemes to analyze prescriptions for the monitoring of adverse drug reactions. Hospital pharmacies are pharmacies usually found within the premises of a hospital. Hospital pharmacies usually stock a larger range of medications, including more specialized and investigational medications (medicines that are being studied, but have not yet been approved), than would be feasible in the community setting. Hospital pharmacies typically provide medications for the hospitalized patients only, and are not retail establishments. The practice of pharmacy that responds to the needs of the people who use the pharmacists’ services to provide optimal, evidence-based care. To support this practice it is essential that there be an established national framework of quality standards and guidelines

The major changes in clinical chemistry have been brought about as a result of the convergence of system engineering, automation, and IT technology. Thus, new technologies have enabled a better understanding of disease processes. The clinical chemistry market is expanding, consolidating, and becoming highly competitive with a myriad of opportunities for various new instruments, reagents, calibrators, and other systems.

Clinical chemistry and molecular diagnostic markets are undergoing significant transformation, caused by convergence of new and more stringent regulations; advances in diagnostic technologies, system engineering, automation, and IT; and intensifying competition. Some segments, like routine chemistry, are already resembling commodity markets, where product positioning and cost per test are more critical than underlying technology. This evolving marketplace creates exciting opportunities for a variety of new instruments, reagent systems, and auxiliary products, such as specimen preparation devices, controls, and calibrators.