What exactly is DNA, in a non-technical definition?
What is the difference between genetics and genomics?
What are the markers and risk alleles you talk about?
What does it mean to be a carrier? How will it affect me? How will it affect my children?
Why are genes important in my life?
Are my genes my destiny, or do things like diet and exercise really make a difference?
How does genotyping work?
What are the next big breakthroughs in genetics likely to be?
How is new science handled?

What exactly is DNA, in a non-technical definition?
DNA or deoxyribonucleic acid is a chemical contained in each cell of your body (except red blood cells), that forms the genes and creates the blueprint for life. DNA is formed from a series of building blocks into a long, coded chain that gives the instructions for development from conception to adulthood. It also has instructions for the specialized functions of your body. For example, in your muscles, your DNA instructs the cells to form fibers and equips them to contract. In your eyes, your DNA tells cells to form photoreceptors to detect light. Each part of your body is formed and operates based on the instructions that are in your DNA.

What is the difference between genetics and genomics?
Genetics is the science of heredity, especially how characteristics are passed down through the generations by means of genes, and how inherited characteristics vary between individuals. Genomics is the study of the entire DNA sequence of an organism (the genome) and how the genome functions, including the regulation of gene expression in health and disease. The study of genetics and genomics will provide deeper understanding of living organisms and will allow the discovery of better diagnostics and treatments for certain disease conditions.

What are the markers and risk alleles you talk about?
Your DNA varies from other people's DNA, and that's what gives us unique traits such as the ability to freckle or have blue eyes. Variant positions in your DNA are known as genetic markers, and the variants are referred to as alleles. Each of us inherits two copies of genetic material, one set from each parent (except for the sex chromosomes - that's a different story). Most of your markers have two copies, which either are the same or are different variants. For example, let's say that the ability to freckle is encoded by a freckling marker, and that there are two alleles possible - A allele (freckles) or the B allele (no freckles). Your genotype for the freckling marker might be AA, AB or BB. So in this example, if your freckling marker reads BB, you probably do not have freckles. When we talk about disease markers, these are often described as having a risk allele (which gives you an increased risk for developing a disease compared to the general population), and/or a protective allele (which gives you a decreased risk for developing a disease compared to the general population).

What does it mean to be a carrier? How will it affect me? How will it affect my children?
Some diseases are recessive. That means that you must receive a copy of the disease-causing allele from each of your parents in order for you to exhibit the characteristics of that disease. If you are a carrier that means that your DNA contains only one copy of a disease-causing variant. Carriers do not have the disease themselves, but can pass the disease-causing variant on to their children. If both parents are carriers, then each child of the couple has a 25% chance of inheriting two copies of the disease-causing variant and developing the disease.

Why are genetics important in my life?
Genetic factors are the "nature" in the nature vs. nurture question. Genetics determine many things about your life: your looks, your athletic tendencies, your behavior, and more. You can learn a lot about these traits from your DNA test results. Your genetics determine not only your unique traits, but also disease risk and how you respond to certain drugs. Genetic factors that increase risk for common diseases such as Alzheimer's Disease, cancer, diabetes and heart disease are found in more than 40% of the population. An analysis of your genetic makeup can reveal your risk for developing these and other diseases and potentially how you would respond to treatment.

Are my genes my destiny, or do things like diet and exercise really make a difference?
Your genetic profile may show increased risk for a particular disease. However, being at risk does not mean you will ever develop the condition. Lifestyle factors such as a healthy diet and regular exercise have been well-documented to lower risk for many diseases such as cancer. On the other hand, lifestyle factors such as tobacco smoking have been shown to increase your risk of developing cancer and other diseases. In addition, early detection of many diseases has been shown to increase the likelihood of successful treatment. If your genetic profile shows an increased risk for developing a disease, we recommend you discuss preventive and early detection options with your physician.

How does genotyping work?
Your genetic material is made up of DNA, which is a coded sequence of 'letters' that are composed of four different types of chemical building blocks called nucleotides. The nucleotide sequence is slightly different (only approximately 0.01%) between people at specific positions along a DNA strand. Some of these variations can cause disease, change how you respond to certain drugs or confer disease risk. A great deal of research has been done to determine which variations are linked to certain diseases. The collection of variations that are found in each person's DNA is called a genotype, and your genotype is part of what makes you different from every other person (unless you have an identical twin).

At Pathway Genomics we can determine the variations in your genome. We use an assay called primer extension that tests the type of nucleotide (letter) at specific positions in your DNA. For each variation we want to test, we have designed a very small piece of DNA (approximately 50 nucleotides in length) called a primer, and under the correct conditions the primer will find its specific match in your DNA. Then an enzyme will read your DNA and add the appropriate nucleotide match to the end of the primer. The added nucleotide is attached to a fluorescent molecule that gives off light which is detected by a scanner. The specific wavelength of light detected by the scanner corresponds to the specific nucleotide that was added to the primer. This information is translated by a computer program into the 'letter' or nucleotide that is present at that position in your DNA, and lets us know which variation you have in your DNA.

What are the next big breakthroughs in genetics likely to be?
New discoveries occur rapidly in the area of human genetics. The next breakthroughs will be in our understanding of how genetic and environmental mechanisms individually influence and combine to produce disease and much more. This knowledge will enable early prediction of disease susceptibility, facilitate prevention of disease through discovery of new medications targeted to specific disease mechanisms and may identify lifestyle changes that can be made to help avoid disease.

How is new science handled?
Since we retain a copy of your test results in our secure DNA Lockbox™, we can monitor exactly what newly released science relates to your specific genetic variations and what doesn't. We will also send you personalized updates, news and recommendations as they develop. Our scientists monitor and carefully evaluate new information published in scientific journals and add new disease-associated variants to our tests as appropriate.