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Genetics Specialists - Springfield, IL

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What is Genetics?

Genetics is the branch of medicine dealing with the diagnosis, prevention, and treatment of genetically-linked or hereditary diseases. It includes both genetic counselors and medical geneticists, who may be involved in either patient care or research.

Medical geneticists are doctors who study genes and diseases that are caused by genes. There are many diseases linked to genetics, including:

  • Single gene disorders, the result of a single mutated gene. Examples include Huntington's disease, which causes jerky movements, and sickle-cell anemia, where red blood cells have an abnormal, rigid shape.
  • Inborn metabolic disorders, which are a specific type of single gene disorder that results in abnormalities in the way the body chemically processes proteins, carbohydrates or fats. Some examples are Urea Cycle Disorder (where ammonia builds up in the body) and Gaucher's Disease (where fatty substances build up in cells and organs).
  • Chromosomal disorders, where gene-carrying chromosomes do not pair up correctly or are missing. Some examples are Klinefelter Syndrome, a sex-chromosome disorder, and Down Syndrome.
  • Congenital abnormalities (commonly known as birth defects), which can be caused by genetic abnormalities. They also can happen because of illness or environmental exposure during pregnancy (such as with rubella), or for unknown reasons.
  • Other common diseases that have hereditary traits, such diabetes, autism, and some types of cancer.

Medical geneticists typically spend their career in research, although some treat or counsel patients. A patient may see a medical geneticist to obtain more information about their disorder or about how an inherited disorder might impact their family. The field of medical genetics includes the following four subspecialties:

  • Clinical Genetics: This overarching branch of medical genetics deals with the treatment and management of hereditary diseases.
  • Biomechanical Genetics: This branch deals with metabolic disorders, such as galactosemia and phenylketonuria.
  • Cytogenetics: This specialty deals with chromosomes and their associated diseases, as well as testing their structure and number.
  • Molecular Genetics: This specialty focuses on DNA, interpreting DNA sequencing and other tests, and relating DNA information to specific diseases.

Related to medical genetics is the field of genetic counseling. These healthcare professionals are not physicians, but they are educators who help patients interpret medical information about genetic risk, which can sometimes be difficult to understand or overwhelming. When families face the possibility of having a child with an inherited disease, genetic counselors educate them about their specific risks and options. They analyze patterns in family history and interpret the medical probability of a genetic disease occurring. They provide support and put families in contact with resources. Genetic counselors help families adapt to all of the implications that a hereditary disease can have in their life.