What Do Molecular Genetic Pathologists Do?

Hugo Romeu MD

July 26, 2022

Molecular Genetic

If you’re interested in learning more about the field of molecular genetic pathology, this article is for you. Learn about what molecular genetic pathologists do, and how their tools can improve your patient care.

Molecular pathology is a subspecialty of medical genetics

Molecular pathology is the branch of medical genetics that studies the causes and progression of various diseases. The field has recently made great strides in precision medicine, allowing for a better understanding of a patient’s disease.

Molecular genetic pathologists use the principles, theories, and technologies of molecular genetics to study diseases. Pathologists can confirm and diagnose Mendelian disorders and other genetic disorders. They can also keep an eye on treatment and infections. Molecular pathologists can also figure out how likely it is that someone will get an inherited genetic disease. Since the first molecular pathology labs opened in the United States in 1985, it has only been recently that molecular pathologists have been seen as an important part of medicine.

It is used to make individual diagnoses

A Molecular Genetic Pathology Laboratory at Stanford University offers a comprehensive range of diagnostic tests, including the analysis of nucleic acids and solid tumors. It also offers carrier screening tests for inherited genetic disorders and performs assays for thrombophilia risk factors and certain hematolymphoid disorders. These tests help to pinpoint the exact cause of a patient’s disease, thereby improving treatment options and reducing costs.

A molecular genetic pathologist is a doctor trained in the principles, technologies, and procedures of molecular genetics. Among its many uses, molecular genetic pathology can confirm the diagnosis of Mendelian genetic disorders, infectious diseases, and human development. This pathologist uses advanced laboratory techniques and data analysis to make individual diagnoses and to assess the risk of genetic disorders in patients.

Molecular Genetic Pathology, Second Edition presents fundamental information that is pertinent to the practice of molecular genetic pathology. Molecular Genetic Pathology must also identify new biomarkers and exploit them in diagnostic and therapeutic procedures to provide individualized treatment. The book aims to prepare pathologists for the Molecular Genetic Pathology Board examination. Further, it provides a clear overview of the field, emphasizing the clinical applications.

It allows for personalized medicine

Personalized medicine is a promising advancement in the field of pathology. Genetic and molecular tests can help physicians determine risk factors for various diseases and prompt patients to take more aggressive measures against them. With these tests, doctors can detect and manage risks of various inherited diseases and cancers.

The process of personalized medicine has many benefits. The alterations in these genes can lead to more effective therapies. Next generation sequencing (NGS) is an effective tool for this research, but it requires highly trained molecular pathologists. Personalized medicine is also advancing cancer care. In many cases, molecular diagnostics can identify patients who are better candidates for novel treatments.

Tools used by molecular pathologists

This text is a practical reference for practicing pathologists, oncologists, and internists, as well as trainees, medical genetisists, and pathology residents. It provides a concise overview of this rapidly growing field, with an emphasis on clinical applications.

Another tool commonly used by molecular pathologists is PCR thermocyclers. Among other tools, a molecular pathology lab uses digital PCR and Sanger sequencers. For small volumes of liquid, molecular pathology labs use hand-held pipettors and automated liquid handling instruments. Molecular pathology labs use these tools to analyze clinical samples and provide the best results possible.