Testing & Counseling for People at Risk for Disease Caused by Gene Mutations

Double Helix imageGenes — the basic units of heredity — provide the “instructions” to our cells that determine the way we look (e.g., blue eyes, brown hair), the way our body works and our health. Genes control much of what happens in our bodies.

A gene with an abnormality, or mutation, cannot perform its normal function. Gene mutations can be either inherited from a parent or acquired during a person’s life. Certain gene mutations can result in disease or an increased risk for disease.

Most diseases are related in some way to our genes. Some genes are involved in common illnesses, while others cause rare conditions. Mutations in genes can lead to an inherited disease or make a person more prone to develop a disease.

Each day, scientific knowledge advances concerning the genetic basis of various diseases. More and more, researchers are able to identify the mutations that lead to specific diseases. This, in turn, has led to an increase in the number of available genetic tests.

Reasons for Genetic Testing

Genetic counseling and testing may be done for many reasons:

  • To diagnose people who have symptoms of a disease
  • To determine future disease risks in people who do not have symptoms
  • To determine genetic risks for children or other family members
  • To determine genetic risk during pregnancy
  • To guide a person’s medical management
  • To further medical research

Genetic Counseling

The Froedtert & the Medical College of Wisconsin Genetic Counseling Program provides genetic counseling and testing to people who may be at risk for certain diseases due to a personal or family history of a genetic condition. A genetic counselor is a health professional with a graduate degree in medical genetics and counseling. Our genetic counselors provide personalized consultation regarding:

  • A person’s risk for genetic disease
  • How genes are linked to disease
  • How disease is inherited
  • Genetic testing
  • Options for early disease detection and prevention

As an academic medical center, Froedtert & the Medical College have the expertise to offer comprehensive testing, counseling and referrals to appropriate specialists and services. In certain cases, interested people may be able to participate in various genetic research trials throughout the country.

Genetic Screening & Counseling Programs

The Genetic Counseling Program currently offers the following types of genetic screening and counseling: