What is genetic counseling?
Genetic counseling is a consultation aimed at evaluating personal and family information that may indicate hereditary risk for certain conditions. In the context of cancer, it helps to understand whether there are elements that justify additional investigation, genetic testing or specific follow-up.
The consultation also allows you to discuss the benefits, limits, possible results and impacts of a genetic evaluation before making any decision about testing.
Genetic counseling and genetic testing: what’s the difference?
| Criteria | Genetic counseling | Test genetic | How they complement each other |
|---|---|---|---|
| Objective | Evaluate history, context and doubts to support informed decisions. | Analyze genetic information according to the defined indication and scope. | The consultation can indicate whether testing makes sense and which question should be answered. |
| Information evaluated | History personal, family, diagnoses, ages and available documents. | Variants in the genes included in the requested analysis. | The result gains meaning when related to the clinical and family context. |
| When it can be indicated | When there are doubts or elements that merit hereditary risk assessment. | Only when the evaluation identifies a justifiable clinical question. | Not all counseling results in testing. |
| Limitations | Depends on the quality and availability of information. | Does not assess all cancer risk and may produce inconclusive results. | Limits need to be discussed before and after the exam. |
| Interpretation | Performed by a qualified professional, considering the set of information. | Should not be interpreted alone or just through the report. | Clinical interpretation guides the next steps. |
| Next steps | May include monitoring, referral, testing or no testing at that time. | Depends on the type of result and the individual context. | There is no single approach for all results. |
Genetic testing can be one of the tools used during the investigation, but it does not replace clinical evaluation. In some cases, the recommendation may be not to perform the test at that time.
When to seek genetic counseling?
- Multiple cases of cancer on the same side of the family;
- Diagnosis of cancer at a younger age than expected;
- More than one type of cancer in the same person;
- Tumors in paired organs or bilaterality, when applicable;
- Family history of breast, ovarian, pancreatic, prostate, colorectal, endometrial, stomach or other tumors;
- Relative with a genetic variant already identified;
- Personal history associated with a possible hereditary syndrome;
- Questions about family risk of cancer;
- Indication made by a healthcare professional team;
- Need for a second opinion.
The presence of one of these factors does not confirm a hereditary syndrome and does not mean that genetic testing will necessarily be indicated.
How does the genetic counseling consultation work?
1. Personal and family history
The consultation considers personal and family diagnoses, types of cancer, age at diagnosis and available information.
2. Risk assessment
The professional assesses whether there are elements that may suggest the need for additional genetic investigation.
3. Discussion about tests
When indicated, objectives, benefits, limitations, possible results and impacts for the patient and family are explained.
4. Follow-up plan
Next steps may include clinical follow-up, referral, family counseling or discussion of strategies as appropriate.
How can genetic results be interpreted?
Pathogenic or likely pathogenic variant
May indicate a genetic change associated with increased risk for certain conditions. The meaning depends on the gene, personal and family history, and applicable guidelines.
No relevant variants identified
It may mean that no relevant changes were identified in the analysis performed. This does not eliminate all risks and should be interpreted in conjunction with the history.
Variant of uncertain significance
Indicates a change whose clinical importance has not yet been defined. It should not be interpreted as confirmation of risk or diagnosis of disease.
Known family result
When a variant has already been identified in a family member, the assessment can guide whether it makes sense to investigate this information in other family members.
Why is family history important?
Information about family members can help identify patterns worth evaluating. Both the maternal and paternal sides must be considered.
- Who was diagnosed;
- What type of cancer was it;
- At what age it occurred;
- If there was more than one tumor;
- If there are previous genetic results;
- What is the relationship and side of the family.
What to bring to your genetic counseling appointment?
- Previous exams, when available;
- Medical reports;
- Results of genetic tests already performed;
- Information about family members with cancer;
- Anatomopathological reports or diagnostic documents, when available;
- List of medications for continuous use;
- Questions you wish to discuss.
Be sure to schedule an appointment if you do not yet have all the documents. The team will be able to advise which information may be useful.
Genetic counseling integrated into your care
When indicated, counseling can be integrated into different areas. Not all patients need multidisciplinary follow-up.
Mastology
mastologia can participate when personal or family history involves breast health.
Oncology
oncology can integrate the care of patients with a personal diagnosis or oncological follow-up.
Gynecology
The gynecology and obstetrics can contextualize history, prevention and gynecological needs.
Gynecological surgery
A gynecological surgery participates only when there is an independent and individualized clinical indication. Woman.
In-person service and teleconsultation
Clínica Medicina da Mulher provides in-person service in São Paulo and can provide guidance on teleconsultation for patients from other cities, states and countries, depending on clinical need, team availability and rules apply.
Genetic Counseling FAQ
It is a consultation that evaluates personal and family information to understand whether there are elements compatible with hereditary risk of certain conditions. In the context of cancer, it helps to organize the history, discuss benefits and limits of the investigation and decide whether or not a genetic test may be indicated.
No. Counseling is an assessment and communication process that considers history, doubts and objectives. The test is a tool that analyzes genetic information within a defined scope. In some cases, the consultation may conclude that testing is not necessary at that time.
People with personal diagnosis, family cancer patterns, diagnoses at young ages, multiple tumors or relative with a known variant may benefit from an evaluation. These factors do not confirm an inherited syndrome and do not automatically make testing necessary.
Not necessarily. Cancer is a common condition and can run in families without an identifiable hereditary cause. The evaluation considers number of cases, types of tumor, relationship, maternal or paternal side, age at diagnosis and other information before estimating the need for investigation.
A hereditary risk test is not used alone to diagnose the presence of a tumor. It can identify genetic information associated with certain risks when indicated. Diagnosis, tracking and monitoring depend on clinical assessment and appropriate exams for each situation.
The term can refer to the identification of a pathogenic or probably pathogenic variant, but its meaning depends on the gene, of the test and the personal and family context. This result does not mean that cancer will necessarily occur. Interpretation and next steps must be individualized.
It is a genetic alteration whose clinical relevance is not yet defined by available evidence. It should not be treated as a positive result, confirmation of risk or diagnosis. The interpretation must consider the report and the context, and can be updated with new knowledge.
No. A result without a relevant variant in the scope analyzed does not eliminate all cancer risk. The risk may also be related to factors not assessed by the test, personal and family history and other aspects. The result must be interpreted clinically, without replacing individualized monitoring.
Available information can make the assessment more accurate. If possible, gather cancer types, age at diagnosis, relationship, and known genetic results. Don’t forget to schedule because you don’t have all the data; the professional can advise what is worth looking for.
In some situations, genetic information or a family pattern may be relevant to other relatives. The need for assessment depends on the result, the degree of kinship and the context of each person. Automatic family testing is not recommended without individualized guidance.
Teleconsultation can be considered to organize the history, review documents and clarify doubts, depending on availability and applicable rules. Some stages may require in-person assistance or additional analysis. The team will advise on the most appropriate format before scheduling.
The page confirms the counseling appointment, but does not describe its own laboratory, in-house collection, or specific partners. When a test is considered, the team can guide the flow applicable to the case. Testing is not guaranteed and depends on clinical assessment.
Scheduling can be initiated via WhatsApp. Inform if you have a family history, personal diagnosis, previous genetic result, known familial variant, need for a second opinion or interest in teleconsultation. Do not send complete reports, genetic data or detailed history before receiving guidance from the team.