Question 1

What is a research registry?

Accepted Answer

A registry allows researchers to collect and store information about a participant’s medical and family history. Many registries will also collect and store blood samples and some may store tissue that is removed during a surgery or procedure that someone is having as part of their regular medical care.  The information and samples that are collected for the registry are used for research to better understand hereditary GI syndromes.

Question 2

Who can participate in a hereditary GI research registry?

Accepted Answer

Each registry will have its own specific criteria for who is eligible to participate, but many registries would include individuals who have one or more of the following features:
 • A mutation in a gene that has been associated with hereditary GI cancer
 • A diagnosis of colorectal cancer before age 50
 • A cancer with mismatch repair deficiency 
 • A rare type of GI cancer (e.g. diffuse gastric cancer, small bowel cancer, pancreatic cancer)
 • A history of more than one cancer
 • A history of more colon polyps than expected (polyposis) or of rare types of polyps (e.g. hamartomas)
 • Multiple family members with the same or related GI cancer types

Question 3

What happens if I participate in a research registry?

Accepted Answer

The first step to participating in a research registry is to provide informed consent.  A member of the research team will discuss the goal of the study, the requirements for participation, and the risks and benefits of the study.  This information will be summarized in a consent form that they will review with you.  You provide informed consent by signing the form, which enrolls you into the registry.

You may also be asked questions about your medical and family history at the time of your enrollment, or you may be given a questionnaire to complete and return. Often, a blood sample will also be collected on the day you enroll in the registry.  Some studies may also collect urine and/or stool samples. Since these registries are designed to perform research about hereditary GI syndromes, you may be given information about the study to share with your family members so that they can also participate if they are interested.

What happens after the day you enroll in the study varies depending on the registry; the expectations for follow-up will be reviewed as part of the consenting process. Most registries will obtain your permission to access and review your medical records over time to get updates about your medical history.  Some studies may contact you periodically, ask you to come in for repeat visits or re-approach you at future doctor’s appointments.  You may be asked to provide repeat samples.  You may also be asked to give permission for the study to store tissue if you have a surgery or procedure.

Question 4

What kind of research is done using a hereditary GI registry?

Accepted Answer

Research performed with a hereditary GI registry can be widely variable, but most researchers are interested in knowing more about the following topics:
 • Cancer risks associated with hereditary GI syndromes
 • Other factors that contribute to risk for individuals who have a gene mutation that causes a hereditary GI syndrome 
 • Ways to reduce risk or prevent cancer in individuals with hereditary GI syndromes
 • Searching for new genes that cause hereditary GI syndromes
 • Exploring new technology that can detect mutations we cannot currently find

Hereditary GI cancers are rare.  Most individual registries are unlikely to have enough participants with a specific condition or feature to allow for high-quality research on their own.  Members of CGA-IGC are highly invested in performing collaborative research; we understand that pooling information and samples is the best way to learn the most.  When information or samples are shared between researchers, everything is de-identified; nothing that could tie your information or sample back to you as an individual is provided.

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