Molecular Diagnostics


Diagnostic tests are the foundation of  a successful health care system, providing critical information that health care providers and patients need to make the right medical decisions. Diagnostics often provide objective, quantitative measurements that inform every stage  of care—prevention, detection, diagnosis, treatment, and successful management of health conditions.
Molecular diagnostics is a dynamic and transformative area of diagnostics, leading to insights in research and treatment in many disease states that are revolutionizing health care. Molecular diagnostics detect and measure the presence of genetic material or proteins associated with a specific health condition or disease, helping to uncover the underlying mechanisms of disease and enabling clinicians to tailor care at an individual level – facilitating the practice  of “personalized medicine.” continuous innovation in technology  is increasing the speed and performance of molecular diagnostics, and a future in which whole genome sequencing is routinely performed is not far away. 
increasing automation is enabling sophisticated molecular tests to be performed in the full scope of health care settings, bringing state of the art diagnostics to all areas of the world.
this report provides an overview of  the current landscape for molecular diagnostics, explains the key technologies that are driving the molecular revolution, illustrates the power of molecular diagnostics with some specific examples, and concludes by noting several challenges that have the potential to influence progress in this critical field  of medicine.

Diagnostics are an integral and critical part of our health care system, as the results of these tests inform a wide range of medical decision making. From the genetic tests that inform personalized cancer treatment to the microbial culture that identifies the right antibiotic to fight an infection, diagnostic tests provide critical insights at every stage of medical care—prevention, detection, diagnosis, treatment and successful management of health conditions.
Broadly speaking, two primary areas of health care diagnostics are “in vivo” imaging and “in vitro” diagnostics, often referred to as iVds. imaging encompasses such technologies as X-rays, ultrasonic waves, magnetic resonance, or radio-nuclear methods that produce images of the body and its organs and other structures. iVds are tests performed on a sample taken from the body (blood, tissue, sputum, urine, etc.). “in vitro” is from latin, meaning “on glass”, in reference to the glassware used to hold bodily samples during culture or examination. Molecular diagnostics, the topic of this report, is a subset of in vitro diagnostics, and, therefore, the scope of this report is confined to this field, which is hereafter referred to as “diagnostics” for the sake of convenience.
While the traditional laboratory remains a mainstay for diagnostic testing, significant testing is done outside the laboratory, in such point of care settings as hospitals, physicians’ offices, and clinics, and for personnel in the field, such as emergency responders and soldiers. Pregnancy tests and diabetes test  strips are familiar examples of diagnostics that are available directly to consumers.
the main categories of diagnostics are clinical chemistry, immunology, hematology, microbiology and molecular diagnostics. the diagnostics industry continues to innovate in all of these important areas, and molecular diagnostics has captured particular attention in recent years because of the deep insights these types of tests bring to diagnosis and treatment.
Molecular diagnostics is one of the most dynamic and transformative areas of diagnostics, leading to advances in research and treatment that are revolutionizing health care across a wide range of diseases and health conditions.
Molecular diagnostics” is a broad term describing  a class of diagnostic tests that assess a person’s health literally at a molecular level, detecting and measuring specific genetic sequences in deoxyribonucleic acid (dna) or ribonucleic acid (rna) or the proteins they express. Molecular diagnostics identify gene, rna, and protein variations that shed light on whether a specific person is predisposed to have a disease, whether they actually have a disease, or whether a certain treatment option is likely to be effective for a specific disease. these tests also can detect and quantify the presence of specific viruses, bacteria,  or types of cells.
sequencing the entire human genome is a feat that, when it was first accomplished by the Human genome Project, took an international, governmentled research consortium over 10 years and $2.7 billion. (an initial draft of the entire genome sequence was published in 2001, ten years after the project was initiated, and an essentially complete version was published in 2003.) remarkably, molecular diagnostics now can sequence a person’s entire genome for a cost that is rapidly declining and now approaches $1,000. 
Many of our bodily processes, both normal and abnormal, as well as health or disease states, are driven by the interaction of our genes and the  proteins they produce that carry out specific  functions within the body. therefore, the ability  to quickly and accurately assess an individual’s  health at this molecular level is truly transforming  the practice of medicine. 
the term “personalized medicine” has arisen from this field of molecular discovery. the term means that understanding underlying molecular mechanisms  is empowering clinicians to evolve away from treating every patient based on what they have broadly in common with other patients (e.g., lung cancer) to treating them as individuals (e.g., a patient has a specific gene mutation in their cancer that is associated with a specific type of lung cancer).
of course, the ultimate power of personalized medicine is the ability to treat these smaller groups with therapies tailored to the molecular profile of their individual cancer. When specific proteins or genetic sequences have a known association with a specific health condition or disease, they are often referred  to as “biomarkers”” because they are markers of  that condition or disease.
Molecular diagnostics are the tools that are driving the continuing discovery of biomarkers at the research level, which in turn leads to treatments designed around these biomarkers. then molecular diagnostics play an additional critical role by ensuring that these new therapies are delivered to the right patients through more accurate diagnosis of the exact nature  of their individual disease. this has led to the emerging field of companion diagnostics, in which a molecular diagnostic test is used to identify whether  a specific therapy (a companion to the diagnostic)  is likely to be effective for an individual patient.
Molecular diagnostic tests can help a woman understand the likelihood that her breast cancer will reoccur later in life, or tell a doctor what drug is the right treatment for a late-stage melanoma patient.  they can make it possible for couples considering a family to know if they are carriers of a cystic fibrosis gene mutation and therefore at risk of having a child affected by cystic fibrosis. Molecular diagnostics can identify multiple strains of respiratory viruses in a single test, or monitor the level of HiV virus in a patient’s blood to determine how well their treatment is working. in these and many other ways, molecular diagnostics are transforming health care.
Molecular diagnostics today are routinely used in hospitals, reference labs, and blood banks. in the latter, molecular tests are used to screen donated blood products for infectious diseases like hepatitis and HiV. in hospitals, testing is often performed to identify pathogens in patients with infections. in fact, infectious diseases are one of the strongest growing areas within the molecular diagnostics field. there is also increasing demand for such technologies at the point of care (testing that occurs at the point of treatment or patient interaction with a health care provider, such as a doctor’s office or a clinic).