Afib is short for Atrial Fibrillation. It happens when the heart beats out of rhythm. Afib affects the top chambers of the heart (called the atria). Afib is studied in adults in eMERGE 4.

A person typically has two versions of a gene. Each version is called an allele. For the majority of genes, one allele version is inherited from a person’s mother and one from their father. Sometimes one allele version may increase risk of disease, while another may not. Other times both alleles are identical. If the alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous for that gene.

Asthma is a common lung disease. Asthma symptoms such as wheezing, cough, shortness of breath, fast breathing, or tightness in the chest are due to narrowing of the airway tubes. Asthma is a lifelong disease that can be controlled. Asthma is studied in children in eMERGE 4.

Atrial fibrillation, or Afib happens when the heart beats out of rhythm. Afib affects the top chambers of the heart (called the atria). Afib is studied in adults in eMERGE 4.

Test for proteins made in the immune system that can cause disease by mistakenly attacking healthy cells.

Blood thinners are a type of drug that keeps blood from clotting.

Body mass index is calculated from using a person’s height and weight and is used as a measure of fatness.

Cancer is a disease in which cells in the body grow out of control. When cancer starts in the breast, it is called breast cancer. Breast cancer is studied in adults in eMERGE 4.

The Broad Institute is a research center where many human gene studies are carried out. The Broad Institute is a member of the eMERGE Network who will create a report that looks at your risk of developing the conditions in this research study.

CHD, or coronary heart disease, is also called atherosclerosis. It is caused by plaque forming in a person’s arteries that supply the heart. As plaque builds up, the arteries narrow, limiting blood flow to the heart. Coronary Heart Disease is studied in adults in eMERGE 4.

Healthy kidneys remove waste products from your body. Chronic kidney disease means the kidneys are not able to do their part to keep you healthy. In severe stages of chronic kidney disease, the kidneys can no longer clear body wastes. Chronic Kidney Disease is one of the conditions studied in adults in eMERGE 4.

CKD is short for Chronic kidney disease. Healthy kidneys remove waste products from your body. CKD means the kidneys are not able to do their part to keep you healthy. In severe stages of chronic kidney disease, the kidneys can no longer clear body wastes. Chronic Kidney Disease is one of the conditions studied in adults in eMERGE 4.

Cancer is a disease in which cells in the body grow out of control. When cancer starts in the colon or rectum, it is called colorectal cancer. Colorectal cancer is studied in adults in eMERGE 4.

A coronary calcium scan is a test to see if calcium is found in the arteries of the heart.

Coronary Heart Disease (CHD) is also called atherosclerosis. It is caused by plaque forming in a person’s arteries that supply the heart. As plaque builds up, the arteries narrow, limiting blood flow to the heart. Coronary Heart Disease is studied in adults in eMERGE 4.

DNA is short for deoxyribonucleic acid. It is the chemical molecule that makes up a person’s genes. It is made up of chemicals called nucleotide bases, linked together in a chain. Two chains of nucleotides twist around each other to form a double helix.

DNA sequencing is a laboratory technique used to identify the order of a person’s DNA.

An electrocardiogram is a test that measures electrical signals in the heart

Electronic Health Records are databases used by healthcare providers that contain standard medical and clinical data about their patients. Also called an Electronic Medical Record.

Electronic Medical Records are databases used by healthcare providers that contain standard medical and clinical data about their patients. Also called an Electronic Health Record.

Electronic Medical Records and Genomics (eMERGE) 4 is the current phase of the eMERGE Network. It aims to use polygenic risk scores to help clinical management in research participants.

The Electronic Medical Records and Genomics (eMERGE) Network is a national consortium that combines information from DNA biorepositories with electronic medical record (EMR) systems. A major goal of eMERGE is to return genetic testing results to patients to help improve healthcare.

Estrogen-blocking medication are drugs that stop the body from making estrogen after menopause

A first degree relative is a blood relation that is a person’s parent, brother, sister, or child. (Grandparents, nephews, nieces, uncles, aunts, husbands, wives, or cousins are NOT first-degree relatives)

Gene expression is the process by which a gene is translated into a protein.

Sequencing is a laboratory technique used to identify the order of a person’s DNA.

The Genetic Information Nondiscrimination Act (GINA) is a 2008 law that protects against discrimination based on genetic information in relation to your job and health insurance coverage. This law does not apply to life insurance or disability insurance.

A person’s genome is their complete set of hereditary information, including all their DNA.

A person’s genotype refers to their genetic characteristics. A genotype is different from a genome (a person’s complete genetic material) because it relates to how they differ genetically from a comparison group.

Gestational diabetes is diabetes diagnosed for the first time during pregnancy (gestation). Like with other types of diabetes, women with gestational diabetes have high blood sugar. This can affect pregnancy and the baby’s health. It usually resolves after the baby is born.

GINA (the Genetic Information Nondiscrimination Act) is a 2008 law that protects against discrimination based on genetic information in relation to your job and health insurance coverage. This law does not apply to life insurance or disability insurance.

The Genome Informed Risk Assessment (GIRA) is the overall report you received from study staff. This report says if you/your child are at high risk for any of the health conditions studied.

A glucose tolerance test that checks how fast body moves sugar from the blood to tissues such as muscle or fat.

HDL stands for High Density Lipoprotein. Lipoproteins are protein groups that transport fat molecules around the body. HDL absorbs cholesterol and carries it back to the liver.

Heart failure is a condition where the heart is not pumping blood as well as it should, and cannot supply all the body’s needs.

A heart palpitation is the feeling of having a fast-beating, fluttering or pounding heart

Hemoglobin (Hgb) A1c is a type of blood test that measures a person’s sugar levels over a three-month period

A person typically has two versions of a gene, and each version is called an allele. For the majority of genes, one allele is inherited from a person’s mother and one from their father. When we say that a person is heterozygous for a gene, we mean the two versions of the allele are different. The opposite of this is ‘homozygous’, where both versions of the allele are the same.

Hemoglobin (Hgb) A1c is a type of blood test that measures a person’s sugar levels over a three-month period

High Density Lipoprotein is also known as HDL. Lipoproteins are protein groups that transport fat molecules around the body. HDL absorbs cholesterol and carries it back to the liver

A person typically has two versions of a gene, and each version is called an allele. For the majority of genes, one allele is inherited from a person’s mother and one from their father. When we say that a person is homozygous for a gene, we mean the two versions of the allele are the same. The opposite of this is ‘heterozygous’, where both versions of the allele are different.

People with hypercholesterolemia have high levels of cholesterol, specifically LDL cholesterol, sometimes called “bad” cholesterol. Over time, LDL cholesterol can build up in organs and arteries, increasing your risk for early-onset heart disease and stroke. Hypercholesterolemia is studied in adults in eMERGE 4.

Hypertension is a condition when the force pushing the blood against the walls of the arteries is too high. Also called high blood pressure, it can lead to heart disease, stroke, and other health problems.

Hyperthyroidism refers to an overactive thyroid gland, where the thyroid makes more thyroid hormones than the body needs.

Invitae is a genetic testing company that is a member of the eMERGE Network. They are creating a report that looks at your risk of developing heart disease, atrial fibrillation, and some types of cancers. Participants younger than 18 years of age do not typically get these conditions and will not receive testing from Invitae.

A lipid profile is a panel of blood tests that measures the levels of lipids in your body, including cholesterol.

In genetics, a locus refers to the specific location of a gene or section of DNA.

Low Density Lipoprotein is also known as LDL. Lipoproteins are protein groups that transport fat molecules around the body. LDL can collect in the walls of blood vessels, increasing the risk of heart problems.

Lynch syndrome is an inherited disorder which increases the risk of cancer. It is most associated with colon or colorectal cancer, but also increases the risk of cancer in other organs.

A mammogram is an x-ray picture of the breast.

When information about a person’s genes is described as “actionable”, it means that we know enough about the genetic result to make a health decision or action.

Metformin is a drug used to treat type 2 diabetes.

MeTree is a survey tool developed by Duke University, a member of the eMERGE Network. After you join eMERGE, the study team will ask you to tell us about the health problems in your family using a survey called MeTree. The family history information you enter in MeTree will be used to create a picture (or pedigree) of your family health history.

Sometimes a single difference in one gene can have a big impact on a person’s risk for developing a health condition. This is called monogenic risk because “mono” means “one.” For adults in this study, your health risk report includes genetic testing results for a small number of monogenic risks. Children in this study were not tested for monogenic risks.

MRI stands for Magnetic Resonance Imaging. It is a type of scan that uses a large magnet and radio waves to look at organs and structures inside the body.

MRI stands for Magnetic Resonance Imaging. It is a type of scan that uses a large magnet and radio waves to look at organs and structures inside the body.

NSAIDs stands for Non-Steroidal Anti-Inflammatory Drugs. NSAIDs are used to reduce pain and inflammation but do not contain steroids.

Also known as bases, nucleotides are the basic components of DNA. They are denoted by the letters A (adenine), G (Guanine), C (cytosine) and T (thymine). The sequence of these bases forms the genetic code.

An oncogene is a mutated gene that leads to the development of a cancer.

PCOS stand for Polycystic Ovary Syndrome. PCOS is a condition that occurs when a woman’s ovaries or adrenal glands produce more male hormones than usual.

The MeTree survey will create a picture of your family history and how it is related to the conditions we are studying. This is called a pedigree, and you will be able to download it.

A field of medicine that uses information about an individual’s genetics to guide their healthcare. It is sometimes called Individualized Medicine.

An individual’s observable traits, including their height/weight, blood type, or disease diagnosis.

Polycystic ovary syndrome is also known as PCOS. It is a condition that occurs when a woman’s ovaries or adrenal glands produce more male hormones than usual.

Everyone has thousands of genetic differences. Some genetic differences can slightly increase the risk for developing a health condition. A polygenic risk score (PRS) is the sum of these small genetic risks. It is called polygenic risk because “poly” means “many”. A PRS is used to estimate the overall risk someone has of developing a health condition.

Polymorphisms are natural variations in a DNA sequence that have no adverse effect to an individual, and that occur with fairly high frequency in the general population.

Polyuria is the production of abnormally large amounts of urine.

A family history records medical information about a person and their family members. A family history can be used to help identify whether a person might be at more risk for developing certain genetic diseases. If a person has a positive family history, it means that their person’s includes people with a certain condition, meaning the person may be at greater risk of having that condition.

Cancer is a disease in which cells in the body grow out of control. When cancer starts in the prostate, it is called prostate cancer. Prostate cancer is studied in adults in eMERGE 4.

A Prostate Specific Antigen (PSA) test is a blood test that tests for prostate cancer by measuring the percentage of PSA in your blood that is not bound to other proteins.

PRS stands for polygenic risk score. Everyone has thousands of genetic differences. Some genetic differences can slightly increase the risk for developing a health condition. A PRS is the sum of these small genetic risks. It is called polygenic risk because “poly” means “many”. A PRS is used to estimate the overall risk someone has of developing a health condition.

PSA stands for Prostate Specific Antigen. A PSA test is a blood test that tests for prostate cancer by measuring the percentage of PSA in your blood that is not bound to other proteins.

Sleep apnea is a disorder that causes the breathing to stop or become shallow.

A SNP, also know as a single nucleotide polymorphism, occurs when two individuals in the population differ by a single letter (or nucleotide) in the DNA sequence.

A statin is a drug that lowers cholesterol.

A syndrome group of characteristics and/or symptoms that occur together in a recognizable pattern.

A polygenic risk score (PRS) is the sum of small genetic risks in a person. It is called polygenic risk because “poly” means “many”. A PRS is used to estimate the overall risk someone has of developing a health condition. Often people of different ancestries have different PRS that are reported separately. A trans-ancestry PRS is a risk score calculated that includes people of several different ancestries (versus people of just one)

Type 2 diabetes is a condition where the level of sugar (glucose) in your blood is too high. Type 2 diabetes is studied in adults and children in eMERGE 4.