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By Dr. Brandon Colby MD, a medical expert in the fields of genomics and personalized preventive medicine.
This article is part of Sequencing's Education Center section: Genetic Testing for Disease.
Genetic testing has given individuals an unprecedented ability to identify their risk of disease before symptoms ever appear, opening the door to prevention rather than treatment. Understanding which diseases can be detected through genetic testing starts with understanding how genes, DNA, and chromosomes interact to influence health.
Genes, DNA, and Chromosomes: How They Affect Susceptibility to Disease
Every living organism is made up of cells. Those cells contain deoxyribonucleic acid (DNA), which is composed of four chemical bases: Adenine (A), Thymine (T), Cytosine (C), and Guanine (G). DNA forms tightly wound strands called chromosomes. There are 23 pairs of chromosomes in the human body, one set inherited from each parent. The information encoded in those chromosomes dictates how the body functions.
When gene mutations occur, there is a possibility the person may be at elevated risk for a disease. Researchers have identified genes responsible for thousands of conditions. By analyzing a person's DNA, it is possible to detect genetic variants associated with disease risk.
Genetic risk is a risk, not a certainty. Environmental factors play a significant role in whether a disease actually develops, which is why results describe predisposition or elevated risk rather than a definitive diagnosis.
Because genes are passed from parents to children, family history is an important factor in assessing genetic disease risk. Genetic counselors and healthcare providers often ask about conditions in family members such as cancer, heart disease, or inherited disorders.
Carrier Screening and Prenatal Genetic Testing
Pregnant women and prospective parents can use DNA testing to identify potential health concerns before or during pregnancy. Unlike amniocentesis or chorionic villus sampling, a DNA test carries no physical risk. If results indicate elevated risk, genetic counseling is available to help parents understand their options and next steps.
The National Institutes of Health (NIH) recommends that potential parents consider genetic testing before conceiving, particularly for those in higher-risk populations.
What Diseases Can Be Detected Through Genetic Testing
Not all genetic tests screen for the same conditions. Over-the-counter tests and many direct-to-consumer DNA services analyze only a limited subset of variants. Whole Genome Sequencing is the most comprehensive option, analyzing all genes across 100% of your DNA and covering over 30,000 genes, including those associated with rare diseases.
With clinical-grade Whole Genome Sequencing now available directly to consumers, individuals can submit a sample by mail and use their raw data with analysis apps to generate detailed reports. The results are readable without a clinical background, and follow-up with a healthcare professional is always an option.
Sequencing's Next Gen Disease Screen analyzes genetic data for over 15,000 conditions, including rare diseases, inherited disorders, cancer predispositions, and carrier status. You can view the full list of conditions screened on the Rare Disease Analysis List.
Protection from Genetic Diseases
Screening is safe, non-invasive, and reliable. Presymptomatic testing gives you the opportunity to take preventive action before a disease develops. While genetic testing does not predict disease outcomes with certainty, it is one of the most effective tools available for understanding your personal health risks and taking proactive steps.
To order Whole Genome Sequencing, visit the Sequencing store.
Already have DNA data from another provider? Sequencing works with raw data files from virtually all testing companies including 23andMe, AncestryDNA, MyHeritage, FamilyTreeDNA, and many more. Upload your data for free and start exploring personalized insights across over 30,000 genes.