Genetic medicine

Genetic medicine is the branch of medicine that involves the diagnosis and treatment of hereditary diseases. Genetic medicine differs from human genetics in that human genetics is an area of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research into the causes and inheritance of genetic disorders would be considered in both human genetics and genetic medicine, while the diagnosis, management, and counseling of people with genetic disorders are considered part of the medical genetics. Research into stem cells also plays an important role here.

In contrast, the study of typically non-medical phenotypes, such as eye color genetics, considered as part of human genetics would not necessarily be relevant to medical genetics (except in situations such as albinism). Genetic medicine is a recent term for medical genetics and includes areas such as gene therapy, personalized medicine, and the rapidly evolving new medical specialty, predictive medicine.

What is genetic medicine?

Advances in molecular biology and human genetics, along with the completion of the human genome project and the increasing ability of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in medical practice. In the 21st century, practicing physicians focus more on determining the genetic susceptibility of individual patients to disease. This strategy is being used to prevent, modify and treat a variety of diseases that have unique inheritable risk factors such as high blood pressure, obesity, diabetes, atherosclerosis, and cancer.

The Department of Genetic Medicine provides an academic environment in which researchers can explore new relationships between susceptibility to disease and human genetics. The Department of Genetic Medicine was established to house both research and clinical research programs focused on the genetic foundations of health and disease. For this there are using techniques from genetic engineering and genetic modification. Equipped with state-of-the-art research tools and facilities, our faculty members expand their knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease. The department’s faculty collaborates with the Vanderbilt-Ingram Cancer Center to help the Hereditary Cancer Clinic treat patients and families who have a hereditary predisposition to multiple malignancies.

How do we get there?

It has often been estimated that it takes an average of 17 years to translate a novel research result into clinical routine. This delay is due to a combination of factors, including the need to validate research results, the fact that clinical trials are complex and take time to complete and then analyze, and because the dissemination of information and education of health care workers is a major concern new progress does not matter process overnight.

Once sufficient evidence is available to demonstrate patient benefit or “clinical benefit,” subject societies and clinical standards groups use this evidence to determine whether the new test will be included in the guidelines for clinical practice. This finding will also take into account potential ethical and legal issues as well as economic factors such as cost-benefit ratios.

The NHGRI Genomic Medicine Working Group has gathered expert stakeholders in a series of genomic medicine meetings to discuss issues related to the introduction of genomics. In particular, GMWG draws on the know-how of researchers at the forefront of this new medical toolkit to better inform future translational research at the NHGRI. In addition, the working group advises the National Advisory Council for Human Genome Research and NHGRI in other areas of the implementation of genomic medicine, eg. B. Outlines infrastructural requirements for the introduction of genomic medicine, identifying the corresponding efforts for future collaborations and reviewing progress in genomics implementation.