1. What is Columbia eMERGE project about?

Columbia University eMERGE (electronic Medical Records and GEnomics) project is a part of a national network of leading medical research institutions across the country . Growing scientific knowledge and advances in genomic testing lead to development of new ways of improving health. Genomic testing is a new technology that uncovers patient’s genetic information for better prevention, diagnosis and treatment of disease.

The purpose of this research project is to improve our understanding of how genomic testing may impact the health of a general patient population.


  1. What is genomic testing?

Each cell in our body carries genetic information that determines our features. This information is stored in chemical structure of molecules called DNA. We inherit half of our DNA from each of our parents. The entire set of DNA of an individual is called the whole genome and it is composed of about 20,000 genes – segments of DNA that carry most of the information. Genes can have variations in them that cause or predispose a person to disease.

For genomic testing, each person’s DNA is examined in order to identify variations in genes related to disease. There are different methods for examining the DNA. In this study we are using targeted testing to look at a very small subset of the participants’ genomes.


  1. What is being studied in this project?

During this project, 110 genes will be examined in every participant to identify any genetic variations in them that may affect susceptibility to different diseases such as cancer, heart disease or kidney disease.

Among these are 56 genes that were identified by the American College of Medical Genetics as medically actionable because they indicate a high risk of a serious medical problem and are immediately relevant to your medical care. Other 54 genes were selected for examining by the eMERGE consortium for research purposes.

Columbia eMERGE participants are asked to complete up to 3 questionnaires (pre-results, post-results, and 1-year follow-up questionnaire) to determine the psychosocial effects, the misconceptions and the expectations associated with genomic testing. The genomic results are also being linked to the participants’ electronic medical records, enabling an assessment of the medical impact of this test.

In addition, this study will use genomic data to search for new genetic causes of diseases, as recorded in the electronic medical records. The participants will not be personally informed of study results for this aspect of the project.


  1. What do we know so far about disease-linked genes and genomic testing?

Previous research has shown that about 2.5% of the population carries a genetic variant that predisposes to diseases for which preventative measures and/or treatment is available.


  1. Do participants learn the results of this study?

Yes, all participants will receive results of the genomic test.


  1. Does it cost anything to participate in this study?

No. There are no costs to the participant or to his/her insurance carrier for taking part in this study.