Medical Genetics: Definition, Impact & Careers

Medical Genetics: Definition, Impact & Careers

Definition of Medical Genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.

Medical Genetics: Definition, Impact & Careers

For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

What do Medical geneticists do?

Medical geneticists work in different scientific and practical environments at the crossroads between study and clinical treatment. Medical geneticists on the board tell you their careers are exciting, demanding and worthwhile.

Scientific and technological research transforms our understanding of genetic and genomic conditions and affects nearly every medical speciality continually.

A strong new diagnosis, health management and treatment capacities for patient care and public health are being enabled through this rapid expansion of awareness about the genetic and genomic basis of illness, and the demand for genetics practitioners is growing in clinical and laboratory environments, academia, government and industry.

Impact of Genetics on Health and Disease

It is estimated that 3-7% of the general population will be diagnosed with a recognized genetic disorder. This does not include common disorders such as cancer, diabetes, heart disease, and psychiatric disorders.

There is a genetic link of all diseases or health problems (except trauma).

Medical Genetics: Definition, Impact & Careers

The focus of genomic medicine is to understand how variations in a person’s DNA can affect disease and health. Such an interpretation will lead to:

  • Innovative Diagnostic Techniques
  • Past identification by recognizing hereditary vulnerability to a particular disease
  • New treatment approach
  • Designer medicines for a mutation or its products development (Pharmacogenomics)

Common Terms in Medical Genetics

Genetics is the study of genes and their effects.

Genomics is the study not just of single genes but of the functions and interactions of many genes in the genome.

Medical genetics is any application of genetic principles to medical practice. This includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counselling.

Pharmacogenetics is the study of how drugs affect the body with respect to specific genetic backgrounds. Knowledge of these effects can improve the effectiveness of drugs and minimize side effects on an individual –patient basis.

There would never be a good time to become a medical geneticists. In the care of patients and their family all members of the Medical Genetics Medical Care team including clinical genetics, laboratory geneticists, genetic counselors, nurses, doctor helpers etc. play a major role.

Below are some of the most common career paths in genetics and genomics.

Clinical Geneticists

Clinical geneticists are doctors who take care of patients in clinical settings and also perform health care clinical or translational work.

They hold the ABMGG (American Board of Medical Genetics and Genomics) credential and have extensive experience in evaluating, diagnosing, handling, and treating inherited disorders in patients from birth to adulthood, across all ages.

Due to the broad effects of an inherited condition, clinical geneticists work in many other medical disciplines at the intersection. Genetic, molecular, major similarities and whole-genome and exome sequence developments provide unparalleled possibilities for detection and treatment of genetic disorders.

Such developments have expanded the need for geneticists to participate, including prenatal care and family management, in tandem with the increasingly changing scientific and medical field of genetics and genomics.

Genetic Counselors 

Genetic counsellors are healthcare practitioners who combine medical genetics and genomics research with the therapy technique. They work in the clinical, laboratory, public health, research and other environments where education, tests, and services in genetics and genome education are carried out under the supervision of a physician or a medical geneticist.

Genetic counsellors are qualified to provide individuals and families with a wide variety of resources, including support for collecting and evaluating medical and family records, to identify and then advise patients of genetic hazards and opportunities for genetic testing and help patients recognize the capacities and limitations of the genetic and genome tests.

Genetic counsellors are typically trained in one medical field, for example in maternal and preconcert care, pediatric treatment, cancer treatment, heart or nervous care or other medical fields.

Sometimes they work with others, including surgeons, technicians, nurses, dieticians and psychologists. We work together with other health professionals. Genetic advisors are most frequently interested in science.

Clinical Laboratory Geneticists

Clinical geneticists conduct clinical laboratory research for genetic diseases that are heritaged and acquired.

They have ABMGG qualifications in biology , genetics and genomics (LGG) for clinical biochemistry or both.

Clinical laboratory geneticists are a member of the clinical department and operate in a number of laboratory settings, including research centres, reference laboratories and the biotechnology industry.

Biochemical lab geneticists are evaluating patients for inherited metabolic disorders with mass spectrometric and other biochemical laboratories. Genetic and Genomic laboratory methodologies are used by LGG-certified individuals to investigate the molecular basis of patients’ acquired and inherited conditions.

In the context of a patient’s family and family history and nongenetic test findings, Clinical Laboratory Geneticists interpret the genetic, genomic and biochemical test results as well, provide comprehensive reports on the clinical implications of the test results on the patient and the implications of patient families.

Translational research, education and further educative and administrative tasks are often commonly carried out by both geneticists of biochemical laboratories or LG-certified geneticists.

Other medical professionals in genetics and genomics

Many other healthcare professionals, representing a variety of education and expertise, can also focus on genetics and genomics. For example, caretaking for genetic patients and family members, laboratory diagnosis of inherited and acquired genetic disorders or medical services related to genetics, study or policymaking are the subjects of nursing professionals, physician assistants, clinical laboratory researchers and technicians, social workers and pathologist assistants, among many others.

Medical Genetics: Definition, Impact & Careers

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