Whole genome sequencing is designed to determine the entire genetic makeup of an individual by sequencing all of their DNA. Some changes in DNA sequence impact the development of symptoms and disease. Whole genome sequencing is a helpful diagnostic tool in which a physician examines the complete genetic code of the patient, looking for certain changes or variants in the code. Uncovering and interpreting particular disease-causing variants in a patient’s genetic code can often provide a more accurate and targeted diagnosis for the illness in question. Additionally, whole genome sequencing can uncover any genetic predispositions for various illnesses like heart disease and certain types of cancer.

During the whole genome sequencing process, a clinician examines a patient’s entire genetic makeup to look for particular variants or changes in the DNA code that correlate with various diseases. This vital information, in conjunction with the patient’s medical history and symptoms, can help the physician provide a more precise diagnosis of health conditions that have eluded interpretation.

Armed with this information, physicians can make diagnoses and better choose treatments for patients. This test is ushering in the era of personalized medicine in which understanding genetic makeup will help physicians provide care.

This test analyzes a participant’s DNA sample for changes in 59 genes (ACMG59) associated with actionable genetic diseases. The term actionable means that changes can be made to medical care that will lower the chance of developing that disease in the future.

Most of the 59 genes are associated with either a hereditary form of cardiovascular disease or cancer risk. Cardiovascular diseases include problems with the heart muscle (cardiomyopathy), heart rhythm (arrhythmia) and heart arteries (arteriopathy), or a high cholesterol level. Cancer risks include breast, ovarian, colon, thyroid, and many other types of cancer. Other genes included in the screening are associated with malignant hyperthermia, an adverse reaction to certain anesthesia, as well as several other rare genetic diseases.

An individual who has a change in one of these genes can work with their healthcare provider to make a plan for reducing disease risk through medical and lifestyle changes. The individual can also discuss the result with relatives who may share the same genetic risk factor.

It is important to keep in mind that disease-causing changes in these genes are rare. Most people who take this screening will not have a genetic disease risk. However, this does not mean a person will not develop one of these diseases in the future. In addition, this test is not able to detect all disease-causing changes in the genes tested. A negative result, meaning no gene changes were found, does not rule out the presence of a disease-causing change in the genes. Based on a person’s personal and family history, additional evaluation and/or testing may be useful.

Click here for a complete list of genes included in this genomic screening.

Often a medicine will work well for one person, while not working well at all for another person. Scientists have found that specific areas of our DNA can help predict whether certain medications will be effective or if they are likely to cause adverse drug reactions. The results of medication genetic testing may provide information about medications an individual is currently taking or medications that they may be prescribed in the future. Some gene changes may indicate that a medicine is likely to work well, not work at all, or even cause adverse reactions. Genetic screening can look at these areas of DNA and help your healthcare provider make decisions about your medications.