Welcome to the Northwestern Medicine Hereditary Gastrointestinal Cancer Risk and Prevention Program. Our goal is to provide state-of-the-art care for patients with inherited colorectal cancer syndromes. We accomplish this through a multidisciplinary team of providers who have devoted their careers to developing exceptional expertise in this field.

Our mission is to improve the quality of life for patients with inherited colorectal cancer syndromes, prevent death from these cancers and work to Identify individuals with high-risk genetic mutations in order to provide appropriate surveillance and treatment.

We consider each patient as an individual and work with them and their family to develop a surveillance plan that fits their family history and their current life. Our goal is to ensure that each patient receives the prevention and treatment they deserve in order to live their life to the fullest.

Understanding Hereditary Gastrointestinal Disorders

Colorectal cancer is the fourth leading cause of death. Most non-hereditary or sporadic colorectal cancers are in part attributed to modifiable lifestyle factors such as a Western diet high in red meat and low in fiber, obesity, alcohol consumption or tobacco use. While most of these risk factors can be controlled with lifestyle changes, inherited colorectal cancers and other syndromes are different in that they are a series of diseases that are specific mutations that predispose individuals to colorectal cancer. Passed from an affected parent, the syndrome or cancer tends to develop at a younger age. Diagnosed cancers tend to be more aggressive, some are less responsive to conventional treatment and often are tied to other cancers. Approximately 5% of all colorectal cancers fall within the hereditary category.

It is critical for inherited gastrointestinal disorders to be diagnosed so that family members can receive the appropriate genetic testing in order to prevent the disorders in themselves and future generations.

Patient Care

We discuss all cases in our multidisciplinary care conference and provide a consensus decision about each case on an individual basis. Our decision-making process emphasizes patient care, quality of life and the most up-to-date guidelines and recommendations for care and treatment.

The goals of the program include:

• Identifying patients at high risk for colorectal cancer and other inherited gastrointestinal disorders
• Counseling at-risk patients to help them choose the most appropriate screening tests and therapy
• Provide educational resources to both patients and providers
• Informing patients of research studies and clinical trial opportunities as they become available

Conditions

Below are some of the more common hereditary gastrointestinal disorders we treat:

• Lynch Syndrome
• Constitutional Mismatch Repair Disorder
• Familial Adenomatous Polyposis Syndrome
• MUTYH- Associated Polyposis
• Juvenile Polyposis Syndrome
• Peutz Jeghers Syndrome
• PTEN- Hamartomatous Tumor Syndrome
• Serrated Polyposis Syndrome
• Hereditary Diffuse Gastric Cancer
• Familial Pancreatic Cancer
• Li-Fraumeni Syndrome
• High risk mutations
• Family history of colorectal/gastrointestinal cancer.

Becoming a part of the registry

The Northwestern Medicine Hereditary Gastrointestinal Disorders registry is an electronic medical record that helps us keep track of all our patients with hereditary colorectal syndromes and the dates of their surveillance testing. This tracking helps our providers keep patients on track with their scheduled surveillance.

Our registry coordinator connects with patients either on the phone or during their visit to Northwestern Memorial Hospital and gets their consent to enroll in the registry. All patients have the option of enrolling in the registry.

Once a patient is enrolled in the registry, we begin collecting data on the follow-up surveillance tests to help us evaluate our data and outcomes. We use this research data to help shape national and international guidelines. We also consent patients for a blood specimen or saliva specimen. This serves as a source of genetic information analysis to allow us to determine the individual phenotype in each family or in other words, why do certain individuals develop cancer and others do not.

All information that goes beyond the registry is de-identified and cannot be traced to patients. This data is stored in confidential files in the registry office and no one is allowed to access it but the registry personnel. The registry is approved by the Institutional Review Board of Northwestern University.

Benefits of the registry

• Scheduling of all follow-up appointments based on the patient’s preference, aiming for consolidation of appointments in one day if possible
• Follow up with patients on new societal guidelines and surveillance protocols
• Providing a single source of patient information on their protocols
• A coordinator knowledgeable with the details of patient care who can provide test results and discuss basic information with patients

How do I get involved?

Northwestern Memorial Hospital
Digestive Health Center - Lavin 16
259 East Erie Street
Chicago, Illinois 60611
312.695.5620