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Project Summary

The GeneScreen research study is based at the University of North Carolina at Chapel Hill. It brings together researchers from different disciplines, including genetics, clinical medicine, bioethics, sociology, anthropology, psychology, and public health, to study the best ways to offer targeted genetic screening to the general adult population. People who join GeneScreen send in a saliva sample that will be used to look at their DNA, specifically 17 genes. It will test for genetic differences (called “mutations”) that can cause one of 11 rare, but preventable or treatable conditions, including certain types of cancer and heart disease. Each condition has specific medical advice people can follow with their doctors to prevent or treat a serious health problem.

In addition to genetic screening, GeneScreen participants take two surveys, one before sending in their saliva sample and one after getting their results. People who choose not to join GeneScreen can still help the study by completing a survey. We will also ask some people if they are willing to be interviewed. The overall goal of the surveys and interviews is to find out how people decide whether to join GeneScreen and about their experiences with the study.

The GeneScreen study has been approved by the UNC Institutional Review Board (IRB#15-0866). GeneScreen is funded by the National Human Genome Research Institute of the National Institutes of Health.

 

The 11 GeneScreen Health Conditions

Lynch syndrome is a condition that increases a person’s chance to develop several types of cancer.  The most common cancer in people with Lynch syndrome is colon cancer.  Women with Lynch syndrome are also at a significantly higher risk for uterine and ovarian cancers.  


Familial adenomatous polyposis (FAP) is a condition that increases the risk for colon cancer and some other types of cancer. 


MUTYH-associated polyposis (MAP) is a condition that increases the risk for colon cancer and some other types of cancer.

 
Hereditary breast and ovarian cancer syndrome (HBOC) is a condition that increases a person’s chance of developing several types of cancer.  The most common cancers are breast and ovarian cancers.

 
Multiple endocrine neoplasia type 2 (MEN2) is a condition that increases a person’s chance to develop growths (neoplasms) in the endocrine system, the glands that make the body’s hormones.


Marfan syndrome is a condition that causes the connective tissues in the body to be weaker than they should be. 


Long QT syndrome is a heart rhythm problem.


Familial hypercholesterolemia (FH) is a condition that puts people at high risk of early-onset cardiovascular disease.


Alpha-1 antitrypsin deficiency (AAT deficiency) is a condition that makes a person much more likely to get certain lung problems and, in some cases, liver disease.


Hereditary hemochromatosis
is a condition in which people store too much iron in the body.  The extra iron builds up in the organs of the body, especially the liver.  This can cause medical problems like cirrhosis, diabetes, and a type of heart disease called cardiomyopathy. 


Malignant hyperthermia is a condition that causes a serious reaction to certain medicines used for general anesthesia.

 

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