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Genetic testing can identify some inherited gene changes that raise a child’s chance of developing certain cancers, but it cannot tell you with certainty whether or when that child will get cancer. About 8% to 10% of childhood cancers are attributed to inherited mutations, according to the U.S. National Cancer Institute (NCI). A result is most useful when it can change medical care during childhood.
Testing should be planned with the child’s clinician and a cancer genetic counselor. The right decision depends on the suspected syndrome, the child’s age, available screening or prevention, family history, and what the proposed test can and cannot detect.
What an inherited cancer-risk test actually tells you
An inherited, or germline, test looks for gene changes present in essentially every cell from birth. A pathogenic (disease-causing) variant can show that a child has a hereditary cancer predisposition. That information may lead to earlier or more frequent surveillance, preventive treatment, changes in care for an existing condition, or targeted testing for relatives.
The result is not a diagnosis of cancer. It also is not a timetable. Even within one family, people with the same variant may develop different cancers, at different ages, or no cancer at all. Risk is shaped by the specific gene and variant, family history, medical history, environmental exposures, and chance. The NCI explains inherited cancer testing and its limits in its Genetic Testing for Inherited Cancer Risk fact sheet.
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How common is an inherited explanation?
The NCI’s childhood-cancer overview, updated April 24, 2025, estimates that about 8% to 10% of childhood cancers are caused by inherited mutations (NCI Childhood Cancers). Sequencing studies of children with cancer have reported germline pathogenic-variant rates approaching 10%, but the rate varies by tumor type and a detected variant may not explain that child’s cancer. Most childhood cancers therefore are not attributable to an inherited variant.
For context, the NCI estimates that inherited harmful changes account for about 5% to 10% of all cancers, a figure that includes adults and is not a pediatric-specific risk estimate.
Inherited-risk testing and tumor testing answer different questions
Germline testing asks whether a gene change was inherited or arose very early in development and is present throughout the body. It is the test used to assess hereditary predisposition.
Tumor (somatic) testing examines DNA changes acquired by cancer cells. Those changes can help doctors select treatment or understand the biology of an existing tumor. A tumor test may uncover a change that could also be inherited, but it cannot by itself establish that the change is present in the child’s normal cells. A separate germline assessment, often using blood or another non-tumor sample, is needed to confirm inherited status. Tumor sequencing is not a substitute for an inherited-risk evaluation.
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When testing during childhood can change care
The central question is not simply whether a gene is linked to cancer. It is whether knowing the result now can improve the child’s health before adulthood. NCI guidance says testing may be considered when it could alter medical treatment and positively affect health outcomes.
Situations that support testing now
- A syndrome has validated childhood screening, such as scheduled imaging, blood tests, examinations, or specialist visits.
- A preventive procedure or medication can reduce childhood cancer risk or detect a cancer early enough to improve outcomes.
- The result would change treatment for a cancer or other medical condition the child already has.
- A known familial variant can be tested directly, providing a clear answer with a narrower test.
The NCI PDQ Cancer Genetics Editorial Board states: “When screening or preventive strategies during childhood are available (e.g., MEN and FAP), testing should be encouraged on clinical grounds.” See Cancer Genetics Risk Assessment and Counseling.
Situations in which testing is often deferred
If a condition usually begins in adulthood and there is no proven childhood intervention, testing is generally postponed until the young person can participate in the decision. NCI materials use BRCA1 and BRCA2 testing before age 18 as an example: knowing the result usually does not change medical care during childhood. Deferral protects the child’s future ability to choose whether to learn an adult-onset risk.
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Some syndromes are less clear-cut. A child may face some cancer risk, yet specialists may lack validated risk-reduction measures for that age. The NCI describes TP53-related risk in this category as particularly controversial. Decisions require an individualized discussion rather than an automatic “test” or “wait” rule.
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Examples of childhood cancer-predisposition syndromes
These examples illustrate why the gene, variant, age, and available management must be considered together. They are not a checklist for self-diagnosis.
- TP53 and Li-Fraumeni syndrome: associated with a broad range of cancers, including childhood adrenocortical carcinoma. Surveillance and testing decisions should be coordinated by specialists.
- DICER1: associated with predisposition to pleuropulmonary blastoma and other tumors.
- SMARCB1 and SMARCA4: associated with rhabdoid tumors; SMARCA4 is also linked to small cell ovarian cancer.
- RB1: associated with retinoblastoma.
- Multiple endocrine neoplasia (MEN) and familial adenomatous polyposis (FAP): examples in which childhood screening or preventive strategies can make testing clinically useful.
The NCI’s professional summary discusses these and other childhood genomic findings in Childhood Cancer Genomics (PDQ®).
What happens during the testing process
- Referral and history review. A clinician or genetic counselor reviews the child’s diagnoses, physical findings, ancestry, and the family tree. Ages at diagnosis and the types of cancer in relatives can be as important as the number of affected relatives.
- Choose the clinical question. The team decides whether a known family variant can be tested directly, whether a focused group of genes is appropriate, or whether a broader panel is justified.
- Provide a sample. Blood is commonly used. Saliva or another sample may be appropriate, depending on the laboratory and the child’s circumstances.
- Laboratory analysis. A single-variant test looks for a specific familial change. A multigene panel examines several genes at once; the panel’s scope depends on the suspected syndrome and laboratory.
- Result and follow-up counseling. The NCI says results commonly take about two to three weeks, although timing varies by laboratory and test complexity. The ordering team should verify the expected turnaround.
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How to interpret the three main result categories
| Result | What it can mean | What it cannot establish |
|---|---|---|
| Pathogenic or likely pathogenic variant | Evidence of a hereditary cancer predisposition; may support a syndrome-specific surveillance or prevention plan and targeted testing for relatives. | That cancer is present, inevitable, or certain to occur at a particular age. |
| Negative result | If a known familial variant was specifically sought and absent, it can be reassuring for that particular inherited risk. | That all inherited risk, non-genetic risk, or every cancer-causing variant has been ruled out—especially when no familial variant was known. |
| Variant of uncertain significance (VUS) | A DNA change whose effect is not yet established; the laboratory may reclassify it as evidence improves. | A confirmed diagnosis or proof that the child’s cancer risk is elevated. A VUS should not drive irreversible medical decisions. |
A positive result is interpreted with the child’s clinical findings and family history. A negative panel can be genuinely reassuring in some situations, but it does not erase risk when the family history remains concerning or when the panel cannot detect the relevant change. Ask how the laboratory handles updated classifications and who will contact the family if interpretation changes.
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Choosing between targeted testing and a panel
There is no universally “best” test. The appropriate approach depends on the question the care team is trying to answer.
| Decision factor | Targeted familial-variant test | Focused or broad multigene panel |
|---|---|---|
| Known variant in an affected relative | Usually the most direct way to determine whether the child inherited that specific change. | May add findings that are not needed for the established family question. |
| No known familial variant | Cannot be designed around a specific change. | Can examine several genes linked to the child’s clinical or family-history pattern. |
| Possible effect on childhood care | Clear result may map directly to a known management plan. | Results can broaden management options but may also produce more uncertain findings. |
| Incidental or uncertain findings | Generally fewer unrelated findings. | More genes can mean more variants of uncertain significance or findings that require specialist interpretation. |
| Follow-up needs | Still requires counseling and a plan for relatives when positive. | Requires a plan for interpreting each reported gene and coordinating follow-up. |
When possible, testing often starts with a relative who has had cancer. Finding the family’s actual pathogenic variant makes subsequent testing in children and other relatives more targeted and easier to interpret.
Independent reader supportYour contribution helps us test, update, and keep practical guides available for everyone.Why genetic counseling matters
Pretest counseling helps a family weigh likely benefits against limitations, emotional effects, privacy and family implications, and cost. The counselor can explain inheritance, discuss what the child can reasonably understand, and plan how results will be shared. Follow-up counseling is especially important after a positive result, but an uncertain or unexpectedly negative result also needs context.
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Cost, insurance, and practical questions
The NCI says health insurance typically covers genetic counseling and testing considered medically necessary, but coverage depends on the insurer, policy, clinical documentation, and location. Confirm the laboratory’s estimate, the counselor’s fees, deductibles, and any prior-authorization requirement before the sample is collected. Ask whether follow-up visits and testing of relatives are billed separately.
Bring these questions to the child’s clinician or counselor:
- What feature of my child’s history or our family history suggests an inherited syndrome?
- Could a result change care before adulthood?
- Which genes and variant types does this test cover, and what can it miss?
- How would a pathogenic, negative, or uncertain result change the plan?
- Should an affected relative be tested first?
- Who will explain the result and coordinate screening for the child and relatives?
- What will testing and counseling cost, and what may insurance cover?
A practical decision path for parents
- Start with the treating clinician. Ask whether the child’s diagnosis, physical findings, or family pattern suggests a hereditary syndrome.
- Request a cancer-genetics referral. A counselor can build a three-generation history, verify ages and diagnoses, and identify the most informative person to test first.
- Define the childhood action. Before consenting, ask exactly what would change if the result were positive, negative, or uncertain.
- Review the test’s limits. Confirm genes included, methods used, possible missed variant types, turnaround time, laboratory accreditation, and reclassification policy.
- Plan communication and follow-up. Decide who receives the report, how results will be explained to the child, and which relatives may need targeted testing.
- Revisit the plan as the child grows. A test deferred because it would not change childhood care may become appropriate later, when the young person can participate or when management recommendations change.
Common misunderstandings to avoid
- “Positive means cancer is already there.” Inherited testing identifies predisposition, not a tumor diagnosis.
- “Negative means no cancer risk.” A negative result may exclude one known familial variant but cannot remove every genetic, medical, or environmental risk.
- “A gene name predicts one outcome.” Penetrance, variant type, family history, and age all affect risk.
- “Tumor sequencing answers the family question.” Acquired tumor changes and inherited changes are different categories; germline confirmation may be required.
- “Every child in a family with cancer should be tested immediately.” Testing is most justified when it can improve care at the child’s current age, while some adult-onset risks are appropriately deferred.
For U.S. families, the NCI’s guidance on risk assessment and counseling and its BRCA testing fact sheet provide additional context. They do not replace advice from the child’s own medical team.
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