Molecular diagnostics: current techniques and clinical applications

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Definition Of Molecular diagnostics:

Molecular diagnostics is a collection of techniques used to analyze biological markers in the genome and proteome, and how their cells express their genes as proteins, applying molecular biology to medical testing.

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Molecular diagnostics, also called molecular pathology, involves taking DNA or RNA, the unique genetic code found in our cells, and analyzing the sequences for red flags that can pinpoint the potential emergence of a specific disease. The field has expanded rapidly in recent years.

Molecular Diagnostic Solutions – Nutrition and Health

Types of Molecular Diagnostics:


A few examples of successful molecular diagnostic genetic tests are: 

Myriad Genetics: BRAC Analysis®

Assesses the risk of developing breast or ovarian cancer associated with inheriting mutations in the BRCA1 and BRCA2 genes by DNA sequencing 

Genomic Health: Oncotype DX® Breast Cancer Assay

Predicts benefit of chemotherapy and risk of recurrence in estrogen-receptorpositive, HER2-neu negative breast cancer patients by assessing gene expression levels of 21 genes from tumor tissue.


For many tumor types, biomarkers represent an important shift in cancer care. These biologic indicators are increasingly being used to help physicians screen, diagnose, and monitor patients. Certain biomarkers may help in prognostic evaluation, assessment of treatment response, and monitoring for disease recurrence.


Additionally, in July 2020, Roche Diagnostics India launched the Cobas 8800 instrument at the National Institute of Cholera and Enteric Diseases, Kolkata, and Cobas 6800 at the National Institute for Research in Reproductive Health, Mumbai, to aid with SARS CoV-2 diagnostic testing. Roche’s Cobas 6800/8800 systems provide test results in three and half hours and offer improved operating efficiency, flexibility, and fastest time-to-time results.

Some of the sophisticated instruments used in this market are high-performance liquid chromatography (HPLC), mass spectrometry (MS), and nuclear magnetic resonance (NMR), along with real-time PCR, enzyme-linked immunosorbent assay (ELISA), radioimmunoassay (RIA), lateral flow devices, patient safety syringes, and point-of-care testing devices, among others.

Furthermore, with the tremendous opportunity in in vitro diagnostics, many market players are adopting various strategies, such as collaborations, acquisitions, new products launches, and expansions, into the Asia Pacific Market.

For instance, in January 2020, Illumina received product approval from Pharmaceuticals and Medical Devices Agency (PMDA), Japan for MiSeqDx instrument. This approval allows for the distribution of the MiSeqDx as a Class I medical device in Japan, which shows a positive impact on the market.

In addition, in September 2018, Biocartis Group NV, an innovative molecular diagnostics company, and Guangzhou Wondfo Biotech Co. Ltd, a fast-growing diagnostics leader in China, entered a joint venture aimed at the commercialization of the fully automated molecular diagnostics Idylla platform in mainland China, within the field of oncology. Thus, owing to the factors mentioned above, it is expected to drive market growth over the forecast period. 

Techniques that used for molecular diagnosis of Virus

The use of amplification techniques such as polymerase chain reaction, real-time polymerase chain reaction or nucleic acid sequence-based amplification for virus detection, genotyping and quantification have some advantages like high sensitivity and reproducibility, as well as a broad dynamic range.

Benefits Molecular Diagnostics: 

  1. Saves costs and improves throughput

Cost savings and improvement in throughput are some of the major reasons to automate molecular diagnostics workflows, especially during outbreaks and pandemics when many samples have to be tested in a short period of time. Conventional laboratory testing is highly labor intensive as several steps are involved at every stage of the workflow.

Molecular Diagnostics Market Outlook 2018 – 2023 | Upcoming Opportunities,  Share, Trends, and Growth Analysis by Top Industry Leaders | Medgadget

  1. Integration of several processes e.g. sample extraction, PCR preparation and NGS library preparation on the same platform

Automated liquid handling platforms like the Sentosa® SX101 can also be programmed to perform several processes in the molecular diagnostics workflow. In Vela Diagnostics’ automated workflows, sample extraction, PCR preparation and NGS library preparation are performed on the Sentosa® SX101 using different applications.

  1. Patients receive results faster, leading to improved patient outcomes and reduced spread of infectious diseases

The use of automation to minimize hands-on time and turnaround time is especially crucial during major infectious disease outbreaks such as the COVID-19 pandemic. In these situations, it is vital for physicians and patients to know the results of their tests as soon as possible so that treatment and disease containment measures can be implemented promptly.

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  1. Minimizes operator error

Given its complexity, laboratory testing is prone to human errors. It has been reported that more than half of the errors occur in the pre-analytical stage of laboratory testing in areas such as patient sample identification.


Molecular diagnostics have contributed to improved diagnosis of orthopaedic infections. PCR-based techniques are capable of identifying bacterial DNA or RNA, which can aid determination of pathogenic organisms and drug resistance, even in orthopaedic infections that are not culturable or have a low virulence. These techniques can be used to assess viable bacterial load. Measurement of specific host proteins in synovial fluid, such as cytokines and antimicrobial peptides, also represents an attractive strategy for effective detection of orthopaedic infections. Recent advances in metabolomics provide another means to understand the biological basis of orthopaedic infections and new parameters for infection diagnosis. Finally, DNA profiling with deep sequencing technology may be used to tailor personalized antimicrobial regimens for patients with orthopaedic infections.

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Craig Hill

Craig began writing for in 2005, resulting in engaging and fascinating editorials about science and wellness progress. Craig’s inspirational and accurate science and health articles have made her very popular with the viewers. Craig graduated at the University of Illinois at Urbana-Champaign with a Bachelor of Arts degree at October in 2004. He then completed a science college internship in Fermilab, followed using a communications internship in Caterpillar. Ever since that moment, he has been writing in an independent capability for several science, health, technology, along with other books.

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