Optima WGS Patient Information

There are three possible outcomes that may result from your genome analysis:

Some tests may also identify secondary findings, which are genetic changes unrelated to the original reason for testing but associated with conditions for which medical management, screening, or treatment options are available, as recommended by the American College of Medical Genetics and Genomics (ACMG). Receiving these results is optional.

A positive result may help confirm a diagnosis or explain symptoms, but it does not always predict exactly how severe a condition will be or how it will change over time. A negative result does not always rule out a genetic cause, because no test can detect every possible type of genetic change. An uncertain result, often called a variant of uncertain significance (VUS), means a change was found but there is not yet enough evidence to know whether it is related to the condition.

Some technical terms may appear when WGS is discussed. Sensitivity means how well a test correctly finds a condition when it is truly there, while specificity means how well it correctly shows no condition when it is truly absent. Diagnostic yield means how often a test finds a useful genetic answer in people with a similar medical problem. In simple terms, these words describe how well the test performs, but they do not guarantee that every family will receive a diagnosis.

WGS is mainly used when doctors suspect that a health condition may have a genetic cause but the answer is not obvious. It may be considered for rare, complex, atypical, multisystem, or previously undiagnosed conditions, and professional guidance supports exome or genome sequencing early in care for many children with congenital anomalies, developmental delay, or intellectual disability.

WGS is done on a DNA sample, usually taken from blood, but other sample types may also be used depending on the situation. The laboratory reads nearly the entire DNA sequence using advanced sequencing technology and then analyzes the data to look for changes that may explain the health problem. Depending on the laboratory, WGS may be able to detect different types of genetic changes, including small spelling changes, missing or extra pieces of DNA, some structural changes, and repeat expansions.

WGS is a powerful test, but it does not provide an answer in every case. The ACMG guidelines state that exome and genome sequencing have a higher diagnostic yield than standard genetic testing in certain pediatric groups and may be more cost-effective when used earlier in the diagnostic process.

WGS may be considered when a person has symptoms that suggest a genetic disorder, but earlier testing has not found the cause, or when doctors want the broadest possible genetic analysis from the start. It can be appropriate when many different genes could be involved, when symptoms affect several body systems, or when a condition appears rare or difficult to diagnose. In some settings, WGS may also be used urgently for very sick newborns or children when rapid answers could affect care.

WGS has important limitations. Even though it looks very broad across DNA, it still may not detect every disease-causing change, and a negative result does not completely rule out a genetic explanation. Most physical risks are very small when testing uses blood or a cheek swab, but if testing during pregnancy requires procedures such as amniocentesis, those procedures carry a small but real risk of miscarriage. WGS is also not always the best first test for every medical question, especially if a more targeted test is clearly more suitable.

Genetic testing can raise emotional, financial, and private concerns. Health information resource that results can create anxiety or guilt may affect relatives because families share genetic information, and may raise concerns about discrimination or insurance depending on local legal protections and policies. Another challenge is that science keeps evolving, so some results remain uncertain today and may become clearer in the future.

The laboratory usually sends the written report to the doctor and genetic counselor, who then explains what the findings may mean. Reports often describe whether a finding is clearly important, uncertain, or not thought to explain the health problem. Because WGS can uncover both expected and unexpected information, results should always be interpreted together with the person’s symptoms, medical history, and family history.

The WGS process usually begins with a detailed discussion before testing. That conversation should cover possible outcomes, uncertain or unexpected findings, and what the results could mean for the patient and other family members. Samples are collected by the doctor and sent to the laboratory, the DNA is analyzed, and the results are reviewed with the ordering doctor and genetic counselor. In many cases, testing biological parents alongside the patient can improve interpretation.

WGS works best when it is used as part of medical care rather than as a stand-alone piece of information. Doctors and/or genetic counselors help explain the benefits and limitations of testing, discuss results, offer support, and help families understand whether other relatives may also need testing. This is why WGS is most useful when paired with careful clinical evaluation and professional guidance before and after the test.

For many families, the main value of WGS is that it can shorten the search for answers. A result may help confirm a diagnosis, guide treatment or monitoring, clarify future expectations, support family planning, and connect families to condition-specific resources. Evidence reviewed by ACMG found that exome (WES) and genome (WGS) sequencing can influence medical management and family-focused outcomes, especially when used early for appropriate patients.