Genetics and Newborn Screening

Genetics and the Genetics Program

Family Health History is Important 

Your family history holds key information about your past and clues to your future health. Many of your particular traits such as eye color, hair color and height are inherited. So, too, are risks for certain genetic conditions and health problems. By collecting your family’s health history, you can learn what health problems you may be at increased risk for in the future and how to reduce your risks.

Who should talk to genetics professional?

You may need to talk to your doctor or a genetic counselor if your family has:

  • Health problems that occur at an earlier age than expected (10 years to 20 years before most people get the disease).

  • The same health problem in more than one close family member.

  • A health problem that does not usually affect a certain gender, for example, breast cancer in a male family member.

  • Certain combinations of health problems within a family (for example, breast and ovarian cancer or heart disease and diabetes.)

  • Birth defect, growth or development problems, mental retardation, and other known genetic conditions in the family.

  • Others who should seek professional advice include:

    • Women whose pregnancy may be at increased risk for complications or birth defects based on age, blood tests, ultrasound findings or family history.

    • Women who have had two or more miscarriages, a stillbirth or a baby who died.

    • Women considering pregnancy or who are pregnant and taking prescription medication.

    • Couples who would like prenatal testing or more information about genetic conditions that occur more frequently in their ethnic group.

    • Individuals who are concerned about their personal risk for disease based on lifestyle and occupation exposures.

When to Seek Help from a Genetic Counselor or Geneticist

  • If you are worried about your family health history.

  • If you have discovered specific issues about your family health history which you would like to discuss. Most people, however, do not have a high risk for a health problem based on their family health history.

What will I learn from a genetic counselor?

baby feetGenetic counseling is provided by licensed professionals, trained at the master’s level in the areas of clinical genetics, who work with an individual or family who may be at risk for an inherited condition or birth defect. Genetic counseling relies on communication skills to help individuals and families to understand how inheritance works and what causes genetic conditions, while providing information and education regarding testing procedures, diagnosis, prognosis, available options, recurrence risks and support services. Genetic counselors do not tell families what to do, but provide information and explanations of options that are available to the families. A genetic counselor or geneticist will help you:

  • Assess your risk for a health problem that runs in your family.

  • Diagnose a health problem and causes for it.

  • Decide if genetic testing is an option.

  • Tell you about treatment or management of the problem.

  • Refer you to support groups and resources.

  • By only providing information without being directive.

Genetic Services

The purpose of genetic services is to determine an accurate diagnosis and provide information about a specific condition. These services are provided by m edical geneticists who are physicians, usually pediatricians or obstetricians, with advanced training in clinical genetics.

There are many components to a clinical genetic evaluation including:

  • A physical examination.

  • A review of family and medical histories.

  • Laboratory and diagnostic testing, treatment, patient education and genetic counseling. Diagnostic tests may include radiology imaging [X-ray, Computed Tomography Imaging (CT scan), Magnetic Resonance Imaging (MRI), ultrasonography, electroencephalogram (EEG), electrocardiogram (EKG) and hearing or vision tests]. The number and variety of screening tests are increasing rapidly. These include newborn metabolic screening, carrier testing, prenatal screening and presymptomatic disease detection.

  • Accurate diagnosis, which is important for appropriate treatment and clinical management and to determine recurrence risks in future offspring and prenatal diagnosis consideration for future pregnancies.

  • Available treatment options involve drug therapy, dietary management, surgical intervention, rehabilitation services and special education.

Click here to view a map of genetic services by county.

The Genetics Program

baby feetThe purpose of the Illinois Department of Public Health (IDPH) Genetics Program is to provide access to appropriate genetic services for any family with concerns about an inherited condition, and to increase awareness of services provided by the program among health care providers and consumers. Genetic services are available to families or persons of any age residing in Illinois, who may have a family history of, or concern about a medical condition with a genetic basis. Referrals can be made by physicians, other health care providers, schools, self referrals, or other means. Since 1985, the Genetics Program has been able to develop a regionalized genetic network to serve the citizens of Illinois through genetic grants to major medical centers and local public health departments. Specific components of the Genetics Program include:

  • A network of 18 major medical centers throughout the state providing genetic counseling, diagnostic and treatment services.

  • Genetic clinics at 20 sites with nine of those located at local county public health departments.

  • Funding 36 local public health departments to help identify families at risk and provide referral and family support services.

  • Illinois Teratogen Information Service (ITIS), a free statewide service which is staffed by a genetic counselor who provides information regarding all types of prenatal exposures to social drugs, medications, environmental agents, infectious diseases or other exposures that may cause birth defects.

  • Ongoing education efforts in genetics organized for health care professionals, local health departments and the general public.

  • For the past twenty years, IDPH has offered a three-day conference entitled, “Genetics: A Family Affair” as a comprehensive educational event for public health nurses.

  • Work with IDPH chronic disease prevention programs to target high-risk populations through education, life style changes and personal behavior modifications.

  • A statewide genetics needs assessment to assist in the development of a State Genetics Plan for IDPH to be completed in 2007.

For more information, please contact Illinois Department of Public Health, Genetics Program, 535 W. Jefferson, 2nd Floor Springfield, IL 62761, 217-785-8101, TTY (hearing impaired use only) 800-547-0466





IDPH Online Home
IDPH Online Home

Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
Questions or Comments