eMERGE | Vanderbilt University Medical Center

Vanderbilt University Medical Center Return of Results

Electronic Medical Records and Genomics (eMERGE) Network

WHAT IS eMERGE?

The Electronic Medical Records and Genomics (eMERGE) network is a group of researchers across the U.S. organized and funded by the National Human Genome Research Institute (NHGRI), which is part of the National Institutes of Health. The main study goal is to understand how genetic changes affect health. We also want to find the best ways to communicate genetic information to you and your health care team.

The eMERGE III Study began enrolling adult patients at Vanderbilt University Medical Center in May, 2015. Enrollment is complete with approximately 2,500 people participating in this study. The DNA blood samples are being processed, and we expect to start returning results to some participants in this study by October 2017.

WHO IS LEADING THIS STUDY AT VANDERBILT?

Dan Roden, MD, and Josh Denny, MD, MS, are the principal investigators for the Vanderbilt eMERGE III study.


Dan Roden, MD	Josh Denny, MD, MS

WHAT IS DNA?

Deoxyribonucleic acid, or DNA, is found in the cells in our body. DNA holds our genetic code so it can be thought of as our body’s instruction manual. It carries information about how our bodies work in health and disease.

WHAT KIND OF RESULTS MIGHT I GET?

The eMERGE III Study is looking for changes in DNA in 88 genes. The changes in your DNA could tell us if you have an increased risk of developing certain diseases. Changes in your DNA might also tell us if you could have side effects from certain medications.

WHAT HAPPENS IF A CHANGE IS FOUND IN MY DNA?

Your results will be put in your medical record. We expect that most people will not have a gene change that is known to affect health. However, if you do have a change in your DNA, you will be contacted and your doctor will discuss this change with you.

WHAT ARE THE DISEASE-ASSOCIATED GENES THAT ARE BEING TESTED?

Disease Type	Genes Associated
Cancer	APC, ATM, BMPR1A, BRCA1, BRCA2, CHEK2, MEN1, MLH1, MSH2, MSH6, MUTYH, NF2, PALB2, PMS2, POLD1, POLE, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL, WT1
Heart Disease	ACTA2, ACTC1, ANK2, APOB, CACNA1C, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNE1, KCNH2, KCNJ2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYH11, MYL2, MYL3, MYLK, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1, TTR
Connective Tissue Disorders	COL3A1, COL5A1, FBN1, SMAD3, TGFBR1, TGFBR2
Metabolic Conditions	ACADM, ALDOB, ATP7B, BCKDHB, CPT2, CYP21A2, FAH, G6PC, OTC
Blood Disorders	F5, FANCC, HFE, JAK2
Other Conditions	BMPR2, BLM, CACNA1A, CACNA1S, HNF1A, HNF1B, MEFV, RYR1

WHAT ARE THE DRUG-ASSOCIATED GENES THAT ARE BEING TESTED?

Gene	Common Drugs Affected	More Information
CYP2C19	Clopidogrel Voriconazole Citalopram Escitalopram Amitriptyline	https://www.mydruggenome.org/dgi/clopidogrel/ https://www.mydruggenome.org/gdi/cyp2c19/
SLCO1B1	Simvastatin	https://www.mydruggenome.org/dgi/simvastatin/
TPMT	Azathioprine Mercaptopurine Thioguanine	https://www.mydruggenome.org/dgi/thiopurine/
CYP2C9	Warfarin	https://www.mydruggenome.org/dgi/warfarin/
VKORC1	Warfarin	https://www.mydruggenome.org/dgi/warfarin/

FREQUENTLY ASKED QUESTIONS

How many people were enrolled in the study?

From Vanderbilt, 2720 individuals agreed to participate in the study. We enrolled patients from May 2015 to April 2017.

Can I refer a friend or family member to enroll in the study for genetic testing?

We are no longer enrolling individuals to be in this study. Enrollment concluded April 2017.

When will I receive my results?

We expect to start returning results to some participants in October 2017. However, results are being generated on a rolling basis, and we will be gradually returning results to patients over time. Results that may affect your health may be returned to you separately from results that affect how you respond to certain medications.

What do you recommend I do with my results?

If you feel comfortable doing so, we recommend you discuss your results with your primary care provider (PCP) or other health provider. If comfortable, you may also consider discussing your results with family members.

I have a change that is detected in my DNA. What should I do?

Although you may have a genetic variant detected, it may or may not affect your health. If you feel comfortable doing so, we recommend you discuss your results with your primary care provider (PCP) or other health provider for further information.

How will I receive my results?

Your results will be mailed to you. You or your primary health care provider at Vanderbilt may also be contacted by the eMERGE team or other care provider.

Is it likely that I have a change in my DNA that will affect my health?

We expect that only 5% of patients tested will have a change in their DNA that could affect their risk for disease.

Who can I contact at eMERGE?

If you have questions, you may contact us via phone at 615-343-1333 or email at emerge3study@vanderbilt.edu.

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LINKS TO GENETIC TERMS YOU MAY COME ACROSS:

Allele: https://www.genome.gov/glossary/index.cfm?id=4

Carrier: https://www.genome.gov/glossary/index.cfm?id=23

DNA: https://www.genome.gov/glossary/index.cfm?id=48

Gene: https://www.genome.gov/glossary/index.cfm?id=70

Genetic Testing: https://www.genome.gov/glossary/index.cfm?id=88

Genome: https://www.genome.gov/glossary/index.cfm?id=90