What Is Secondary Germline Screening?

The DNA and/or RNA sequence data generated during molecular analysis of cancer can also be evaluated for secondary findings that may provide useful medical insights.

When done along with the principal testing of the cancer specimen, NantHealth’s secondary analysis looks for genetic variants that are present not only in cancer cells but also in noncancerous cells within the body. These more widely distributed genetic abnormalities are referred to as germline abnormalities since they are likely to be present in reproductive tissue often referred to as the germline.

Secondary screening is optional, and patients will have the opportunity to opt-in or opt-out while completing the NantHealth Patient Informed Consent form.

What Genes Are Evaluated in the Secondary Germline Screening?

NantHealth offers secondary screening for a select set of cancer predisposition genes. This list includes a number of genes that are recommended by the American College of Medical Genetics (ACMG) and are compatible with our genetic analytic processes.

What is the clinical significance of secondary findings?

The presence of germline genetic abnormalities in cancer predisposition genes can signify an increased risk of developing particular types of cancers and other medical conditions.

Knowing that an individual has a germline abnormality in a cancer predisposition gene could be beneficial as screening for future cancers and/or specialized therapies may be available. Since these types of abnormalities can be inherited, there’s a chance that other blood-related family members could also carry these genetic abnormalities.

The results of NantHealth’s secondary screening should be discussed with the physician, who may recommend consultation with a medical geneticist. At this time, NantHealth does not provide genetic counseling.

What are the limitations of the secondary germline screening?

The testing procedure used for this screening only looks for a very specific class of genetic abnormalities that are predicted to disrupt the function of these genes. Secondary germline screening does not comprehensively evaluate these genes for all types of alterations that may have clinical consequences—thus there could be additional genetic abnormalities in any of the genes, regardless of the test result. Furthermore, not all genes that increase the risk of cancer are included in this test.

What does secondary screening cost?

The test is run at no additional cost.

How should a patient decide whether to opt into secondary germline screening?

If a patient has questions about opting in for secondary germline screening, they should consult their physician.

How does a patient opt into secondary screening, and how do they receive the results?

Patients have the opportunity to opt-in for secondary germline testing while completing the NantHealth Patient Informed Consent form. If the patient opts in, the test will be performed in parallel with the other genomic testing of cancer and normal tissue samples—and the results will be included in the clinical report containing the cancer genomics test results. This test will not affect the time required to generate the clinical report.

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