Optima WGS FAQs

WGS is a genetic test that reads nearly all of a person’s DNA.

Unlike smaller genetic tests that look at only one gene or a small group of genes, WGS gives a much broader view of the genome.

WES focuses mainly on the protein-coding parts of genes, while WGS looks across both coding and noncoding regions.

That wider view can sometimes help detect important changes that exome testing may miss.

A doctor may suggest WGS when symptoms are complex, when many different genes could be involved, or when earlier testing has not found an answer.

Because WGS looks so broad, it can sometimes help shorten the search for a diagnosis.

WGS may be considered for children or adults with rare, complex, atypical, or previously undiagnosed conditions.

It is often used when there is a strong suspicion of a genetic cause, but the answer is not obvious from standard testing.

WGS can look for many types of genetic changes, including small changes in DNA, insertions or deletions, copy number changes, and some structural changes.

WGS is usually performed on a DNA sample from blood or saliva, although other sample types may sometimes be used.

The exact sample depends on the clinical situation and the laboratory.

Testing close biological relatives can make the results easier to interpret.

Comparing DNA within a family can increase the chance of finding the cause and reduce the number of unclear findings.

Trio testing usually means testing the patient together with two biologically related family members, most commonly the biological parents.

This approach often gives the laboratory more information and can improve the accuracy of interpretation.

WGS usually leads to one of three broad outcomes: a result that likely explains the condition, a result that does not currently identify a cause, or an uncertain result.

Families should be told before testing that genomic results are not always black and white.

A clinically relevant variant result means the laboratory found a genetic change that is known, or strongly believed, to explain the symptoms or diagnosis being investigated.

This may help with diagnosis, medical care, and family counseling.

A no clinically relevant variant result means no clearly causative genetic change was identified based on current knowledge and technology.

It does not completely rule out a genetic cause, and sometimes an answer may become possible later as science improves.

A VUS is a DNA change that has been found, but there is not yet enough evidence to know whether it is harmless or related to the condition.

On its own, a VUS should not be used to make major medical decisions.

Secondary findings 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.

Not always.

Whether they are reported can depend on consent, local practice, and laboratory policy.

Yes. Because WGS examines so much of the genome, it may uncover unexpected information if opt in, including findings relevant to future health risks or other family members.

That is one reason pre-test counseling is important.

Yes. Even though WGS is very broad, no genetic test detects every possible cause of disease.

Some findings may still be missed, and some DNA changes may be found but are not yet understood well enough to interpret.

Turnaround time varies by laboratory and whether the case is routine or urgent.

Standard WGS is typically reported within 6-8 weeks, while rapid options may be available for urgent clinical situations.

The report is usually sent to the doctor or genetics professional who ordered the test.

They then review the findings with the patient or family and explain what they may mean.

After testing, the doctor and genetic counselor team explain whether the result answers the original question, whether more testing is needed, and whether the findings may matter for other relatives.

Follow-up care can include treatment planning, further evaluations, or family testing.

Sometimes yes. A result may show that a condition could run in the family or could be passed on to children, and in some cases, relatives may be offered follow-up testing.

For most people, the physical risks are very small when only blood, saliva, or cheek cells are used.

The bigger challenges are often emotional, family, social, or financial, because genetic results can be stressful and may affect more than one person in a family.

Yes. The genetic analysis itself is not the main concern; the main physical risk comes from how the sample is collected.

Prenatal diagnostic procedures such as amniocentesis carry a small but real risk of miscarriage.

A genetic counselor helps explain what the test can and cannot show, what the different result types mean, and whether other family members may also need testing.

They can also help families work through uncertain or unexpected findings.

Yes. A non-diagnostic or uncertain result today may become clearer in the future as medical knowledge and technology improve.

In some cases, families are advised to return later to see whether reinterpretation is appropriate.

It can. Patient information resources note that WGS may help confirm a diagnosis, suggest treatment options, clarify inherited risks, and guide next steps for both the patient and relatives.