In addition to the answers to these FAQs, you can learn more about genetics from these valuable resources:
What is DNA?
DNA is short for deoxyribonucleic acid. DNA contains information needed to construct and operate a human body. All human beings share more than 99% of their DNA with each other. The tiny fraction that is different helps make each of us unique. Things like our hair color and eye color depend on the bits of our DNA that differ between human beings.
What is RNA?
RNA (ribonucleic acid) is made from DNA and has a major role in making proteins. Proteins are the building blocks of your body, cells, and organs. We want to learn not only how RNA works but also how differences in DNA can lead to differences in RNA.
What is a gene and a gene variant?
A gene is a segment of the DNA sequence that contains the instructions for building one or more molecules that help the body work. Humans have approximately 20,000 – 25,000 different genes. Every person usually has two copies of each gene, one inherited from each parent. Genes are the basic unit of heredity.
When there is a permanent change to the DNA in a gene, it is called a gene variant. These permanent changes can be inherited or can happen during a person’s life. A single gene can have more than one variant, but variants don’t always cause disease. Sometimes they are what make people different, such as the genetic variants that create different eye colors.
Learn more about genes and gene variants
What is a genome?
The genome refers to the entirety of an organism’s genetic material. This includes all genes and other elements that control the activity of those genes. Nearly every cell in the body contains a complete copy of the entire genome.
In humans, the genome is contained within the nucleus of each cell. The genome consists of approximately 3 billion DNA base pairs located on 23 pairs of chromosomes. A person inherits 23 chromosomes from each parent for a total of 46 chromosomes.
What is genomics?
Genomics describes the study of the genome, or the entirety of a person’s genetic material. Genomics seeks to study all genes and their interrelationships to understand their combined influence on a person’s growth and development.
What is genomic sequencing?
We will study your DNA using whole genome or whole exome sequencing. Whole genome sequencing is a way of studying nearly all of a person’s DNA. Every person’s whole genome sequence is different. Like a fingerprint, it is unique to them. Whole exome sequencing looks only at the parts of your DNA that have the blueprints for proteins.
Learn more about both whole exome and whole genome sequencing
What is a biorepository?
A biorepository is made of biological samples collected from people who have agreed to let them be used for research. These samples and information are stored for a long time. Researchers can apply to the Institutional Review Board to use them.
Learn more about biorepositories
What types of results will be returned if I choose to have results returned?
If you choose to receive results from this study, you will only receive results if they are considered medically actionable. This means that we are confident that you not only have a genetic change, but also that the genetic change may cause health problems, and there are proven prevention or treatment options available.
The most common examples of returned results are genetic risk factors for heart problems, high cholesterol, and cancer.
Examples of conditions that will not be returned include those with no treatment or prevention options, conditions in which only a small percentage of those with the genetic change will ever develop symptoms, and conditions with less severe symptoms.
What will happen if a result is found that can be returned?
A certified genetic counselor will contact you to review your results and the mental and physical health implications for you and your family members.
The genetic counselor will provide resources about the result, including the report for your specific finding as well as resources for the appropriate clinic at Duke or information on how to find appropriate care at other healthcare institutions.
What types of recommendations are made when results are returned?
Types of prevention include:
- Annual screening for heart disease or cancer including blood tests, imaging (such as MRI, EKG, and ultrasound), and physical examinations.
- Medications to prevent symptoms from developing symptoms (for example, blood pressure medications or tamoxifen for those with cancer risk).
- Preventative surgeries, for example removing breast tissue to reduce cancer risk or an implantable cardiac device before ever having a heart attack.
Recommendations will depend on the specific result. Generally, we will recommend you follow up with an appropriate clinic experienced with seeing patients with genetic conditions.
How might my result affect family members?
Genetic conditions can be inherited or passed on in several ways. The most common inheritance pattern for returned conditions is called “autosomal dominant,” which means a change was found in just 1 gene and that change is enough to cause disease. First degree relatives – siblings, parents, and children – have a 50% chance of having the same genetic change and associated risk.
Other types of inheritance patterns can result in different risk levels for family members.
We will make recommendations for family members depending on the genetic change found. Usually, genetic testing is used to determine if family members have the same genetic change.
I have a family history of a genetic disease (for example, Huntington’s disease or ALS). Will this study tell me if I carry the family disease?
This study will only release those results that have been determined to be medically actionable. Other genetic results will not be returned.
We encourage you to visit an appropriate clinic specialized in treating people with a family history of genetic disease.
How long will it take to get results?
For any significant findings, results will be returned in about a year. However, it may take longer to find results, and you may be contacted at a later point.
Have a question?
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Email us anytime at OneDukeGen@duke.edu
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