Genetic Testing 101
Understanding Genetic Testing
Every day, research leads to new genetic tests for the diagnosis of various diseases and health conditions. Genetic testing can be used to determine susceptibility to, and aid in diagnosis of, disease in patients of all ages.
A test for genes can identify changes in chromosomes, genes, or proteins. Such information can help your healthcare provider confirm or eliminate a suspected genetic condition, or help them to determine your chance of developing or passing on a genetic disorder. Currently, more than 1,000 genetic tests exist and the field continues to grow.
There are several means of genetic testing. Kashi Health focuses on molecular genetic tests to study single genes, or short lengths of DNA, to identify variations or mutations that lead to disorders and disease. To better understand genetic testing, it is helpful to understand the basics of how human genetic material is organized.
The Genetic Structure of a Human
What is DNA?
The foundation of genetic material in all living organisms is found within a molecule called deoxyribonucleic acid, or DNA. Often referred to as the genetic code, DNA is comprised of four bases: adenine (A), cytosine (C), guanine (G), and thymine (T). Collectively, the content of the genetic code within each organism is referred to as the genome. Within the human genome over 99% of this code is identical among individuals. It is the alterations in the remaining <1% that account for all of the diversity in characteristics like height, eye color, memory or intelligence to name a few.
What is a Gene?
The basic functional unit of inherited traits is the gene. Made up of DNA, genes vary in size from several hundred to millions of bases. The human genome contains roughly 20,000 genes, each containing the information required to produce a specific protein. Each individual inherits two copies of every gene, one from their mother and the other from their father. When there are alterations of the DNA sequence of a particular gene, the different versions of the gene are referred to as alleles. Personal characteristics, such as hair and eye color, are determined by which specific allele they inherit.
What is a Protein?
Proteins, of varying size, are coded by our genes and play many critical roles. Found all throughout the tissues and organ systems in the body, they are integral to maintaining physiological structure and function. Proteins differ dramatically in size and conformation, yet they are all made up of the same 20 amino acids. These amino acids are linked together in chains that are ultimately folded together to form the 3-D shape of the protein. Consequently, the order and number of amino acids in these chains determines the form and function of each protein.
What is an Enzyme?
Enzymes are a very specialized type of protein. They facilitate almost all of the thousands of chemical reactions that take place in cells. Often if there is a problem with the structure of an enzyme, the result is some form of disease.
What Can Kashi Health’s Genetic Testing Provide?
- Evidence to support a diagnosis if someone has symptoms of a disease.
- Whether a person is a carrier for a genetic disease. Carriers have one altered allele of a gene, but will not show signs of illness. However, they can pass the altered gene to their children.
- Guidelines on lifestyle choices in the short and long term.
- Information about newborn infants with potentially abnormal or missing proteins that can cause disease.
- Whether a person has an increased risk of developing disease before symptoms start.
- Support for the type or dose of a medication that is most likely to be effective for each individual – known as pharmacogenetics.
How Markers Are Selected:
There are numerous genes that are found all throughout the genome where, in many cases, there is no physiological consequence for possessing one allele versus another. Consequently, before inclusion in the panel, each gene was carefully researched by Kashi’s PhD level scientists to assure that only the most informative genetic markers that have a well-established impact on health would be included in the test. Every gene in the genetic panel has been carefully selected based on the following criteria:
- Several clinical trials published in peer-reviewed journals have reported a connection between the gene and the condition.
- The gene must have a well established association with a particular disease or health condition.
- The gene impacts a significant portion of the general population.
How Providers Make Use of Kashi Health’s Genetic Testing Services:
Dr. Getchuwell’s patient has been feeling uneasy in her abdominal area, noticing excess gas and bloating, along with weight loss. The patient thinks her stomach trouble could be diet-related. Dr. Getchuwell discovers the patient’s mother has Celiac Disease and feels healthier on a gluten-free diet. Given her family’s history, Dr. Getchuwell suspects this patient may be at risk for Celiac Disease, but wants to be sure. By ordering a non-invasive buccal swab genetic test from Kashi Health, the doctor can determine the patient’s level of risk. If Celiac Disease is confirmed, Dr. Getchuwell can also prevent nutrient deficiencies causing anemia, fatigue, and skin and bone problems, and suggest additional lifestyle changes.
Is Genetic Testing Right For You?
For many people, it is essential to know whether a disease can be prevented if a gene alteration is discovered.
If you suspect you may be at an increased risk for a disease, talk to your family doctor or we invite you to select from a trusted Kashi Health Provider. To accurately assess your risk, your doctor will ask you questions about your health and the health of your blood relatives. The information about your symptoms and background can help you and your doctor decide whether genetic testing is worth pursuing.
If a genetic risk is identified, you might be able to change your lifestyle to prevent a disease from developing. The information can also help your doctor provide better treatment, as well as a follow-up plan tailored to your individual needs. Kashi Health’s genetic testing services could lead to a healthier you.