What is Molecular Genetic Pathology?

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If you have ever wondered what molecular genetic pathology is, you have come to the right place. Here you will find everything you need to know about this emerging field. You will learn about Germline assays, Inherited disorders, and Molecular diagnostics.

Molecular diagnostics

Molecular diagnosis is an important part of molecular genetic pathology. This specialty is home to seven pathologists participating in clinical diagnosis, basic and translational research, and the education of residents. Their lab, located at Northwestern Memorial Hospital, is a leading molecular diagnostics facility in the country.

The ACGME has approved the one-year fellowship in molecular diagnostics for molecular genetic pathology. It teaches advanced molecular diagnostic procedures. Fellows do clinical and translational research and learn lab management.. They will also help people with genetic diseases by giving them genetic counseling.

Germline assays

Germline assays are useful for identifying germline mutations in patients with cancer. The results can help doctors choose the best treatment options for each patient. These tests are also helpful in determining the risk of cancer. The use of germline assays is not limited to cancer patients. They are useful in identifying other genetic disorders, such as hereditary diabetes and polycystic ovarian syndrome.

Germline analysis after tumor sequencing can profoundly impact patient care, including decisions on systemic therapies and surgical interventions. It can also inform genetic counseling for affected family members. Although germline assays are not widely used in cancer care, they are becoming increasingly important for clinical decision-making.

Genetic risk factors

Understanding the molecular background of complex diseases will help improve diagnostic methods, establish risk groups, and influence treatment. The high prevalence of many complex diseases is a major motivation for genetic and environmental research. This issue of Genes will highlight recent findings in this area. It will also discuss promising new ideas and directions for future research.

The Human Genome Project has made it possible to quickly identify gene mutations that cause specific diseases. Many people in the general population and various ethnic groups are carriers of these mutations. The findings have led to discussions about implementing mass screening programs for these diseases. However, the implementation of such programs is often hampered by several challenges, including the complexity of gene mutations, incomplete penetrance, and social and ethical issues. This chapter discusses the basic criteria for population-wide genetic risk screening and explores several disease-screening examples.

Inherited disorders

Molecular genetic pathology describes disorders of the genes that make up our bodies. These disorders are caused by mistakes in the DNA of one of the genes. The child of parents with one changed gene copy has a 50 percent chance of inheriting the disorder. On the other hand, in the case of recessive disorders, both parents carry the particular gene change. This can result in genetic disease or a syndrome.

Molecular genetic pathology is a subspecialty of pathology, an area of medicine that deals with inherited disorders of DNA. The specialty requires a physician board-certified in either anatomic or clinical pathology to qualify for certification.


The Molecular Genetic Pathology Fellowship is an academic program that trains physicians to become expert molecular diagnosticians. Fellows will learn about clinical molecular diagnostics, laboratory administration, and research. The training will also give trainees a fundamental understanding of the molecular genetics of disease. They will be equipped with the skills to perform research, write papers, and understand new molecular methods.

The training program comprises a one-year fellowship accredited by the ACGME and the American Board of Medical Genetics. Fellows will learn the latest clinical molecular diagnostic techniques, including comparative genomic hybridization, mutation scanning, and gene-specific DNA sequencing. They will also gain experience applying next-generation sequencing to infectious, cancer, and inherited diseases.


Molecular genetic pathology is a specialty in the field of pathology. It includes molecular genetics, which studies how mutations in a specific gene cause diseases. The certification is earned by those who perform specialized tests using molecular methods. Those who earn the certification can diagnose disease in a patient.

To be eligible to apply for certification in molecular genetic pathology, candidates must have an M.D. degree and be licensed to practice medicine in the United States or Canada. Furthermore, they must have obtained a primary certificate in pathology from the American Board of Pathology or the American Board of Medical Genetics.