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Genetic Testing and Counseling Services

Our genes tell a lot about our chances of inheriting various diseases and conditions, including cancer, neurological disorders, cardiovascular conditions and others. Couple this with a complete family medical history, and we can learn even more about our susceptibility and risk of developing a multitude of health conditions.

By having a thorough medical perspective, both personal and familial, our Medical Genetics experts can provide our patients with:

  • Risk assessments based on personal and family health history
  • Genetic testing, when indicated
  • Genetic counseling and guidance around disease management, screening and prevention

At NorthShore, we offer genetic testing and counseling services that encompasses patients of all ages. We serve adults seeking guidance on many inherited conditions. Additionally, we assist individuals and couples needing prenatal genetic services for a current pregnancy or preconception counseling for future family planning.

Genetic testing and analysis allows our team at the Mark R. Neaman Center for Personalized Medicine to help you better prevent, screen and treat many different health concerns, including: 


Not all instances of cancer are hereditary. Many factors including lifestyle, environmental exposures and diet also come into play. In fact, most cancers—between 85-90%—are not a result of inheriting a single gene mutation. The best way to know your genetic susceptibility is through genetic counseling, and then genetic testing, if applicable. The following conditions may have a more prominent familial tendency:

  • Breast and ovarian cancers – Hereditary Breast and Ovarian Cancer Syndrome (BRCA1, BRCA 2 single gene mutations)
  • Colorectal and endometrial cancer – Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM single gene mutations)
  • Colorectal cancer and GI polyps – Familial Adenomatous Polyposis Syndrome (APC, MUTYH single gene mutations)

All cancers have genetic abnormalities. Many of these mutations are confined to the tumor itself in what is known as the tumor genome. Targeting these changes opens the potential for personalized, customized therapies. As our research evolves, we continue to identify genetic “driver” mutations that will help improve care and treatment outcomes.

Neurological Disorders

Some neurological conditions, including some forms of degeneration and dementia, do have a known genetic mutation that can increase your likelihood of developing that disease. The following conditions, in either your personal or family history, may mean a genetic consultation would be appropriate to learn more about your risk:

Through research being done at our NorthShore Neurological Institute with the DodoNA project, our genetics team is identifying genomic patterns to help predict neurological outcomes for many neurological conditions.

Cardiovascular Care

Many cardiovascular conditions can be prevented through early diagnosis and treatment, especially if the disease or disorder is suspected of being hereditary. Some of the most common hereditary heart conditions include:

  • Cardiomyopathies (dilated, hypertrophic and arrhythmogenic)
  • Cardiac conduction defects
  • Aneurysms
  • Alterations in lipids, such as cholesterol, leading to increased risk of coronary artery disease and atherosclerosis