Molecular diagnostics – An advancing revolution for precision medicine
Diagnostics is the foundation and integral part of any healthcare system that provides critical insights into different steps of medical management including prevention, detection, and treatment. Today, right medical decision making is solely dependent on diagnostic results. Diagnostic tests range from microbial culture, biochemical, immunological, and hematological assays to molecular diagnostics. The diagnostics industry has continued to innovate in all these important areas; however, molecular diagnostics has captured particular attention in recent years because of the deep insights these types of tests bring to diagnosis and treatment.
The overall global market for diagnostics was valued at USD 64.6 billion in 2017. Molecular diagnostics is currently a relatively small portion of the overall diagnostics market (about 11 percent), but it is the fastest-growing segment and estimated to grow over 12 percent annually. Rapidly growing molecular diagnostics market in developing economies, such as India and China, will drive the regional growth. Increasing awareness and accessibility to advanced molecular diagnostics services, presence of a large patient pool, and developing healthcare infrastructure will further augment region growth. Currently, molecular diagnostics revenue is dominated by infectious disease testing (50–60 percent), with about another third attributable to genetic testing, and blood-screening applications accounting for much of the rest. Some of the key players operating in global molecular diagnostics market are Abbott Molecular Cepheid, BioMerieux’s, Roche Diagnostics, Danaher Corporation, Siemens Healthcare, Qiagen Gaithersburg, Johnson & Johnson, Agilent (Dako), GenMark Diagnostics, Analytik Jena, and Alere Inc.
The terms molecular and diagnostics did not appear together in the scientific literature until the mid-1980s. Since 1985 (around the time PCR appeared), these words increasingly cohabit scientific abstracts at an exponential rate, doubling every 6–7 years. 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 associated with a specific health condition or disease. It helps to uncover the underlying mechanisms of disease, enabling clinicians to tailor care at an individual level – facilitating the practice of personalized 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.
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 healthcare settings, bringing state-of-the-art diagnostics to all areas of the world. 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 planning 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.
