Rare or hereditary disease
Unexplained symptoms, differences in development, manifestations in various areas of health or a condition that may have genetic origins.
Prepare your conversation about genetic testing
You don't need to know which test to order. Organize the reason for your search, your history and your questions to discuss the possibilities with the professional who accompanies you or your family.
The conversation starts with your story, your doubts and what matters to you.
When to ask
The conversation can start for different reasons.
Recognizing a situation below does not mean that a test is indicated. A complete history and professional assessment help determine whether a genetic investigation can help.
Hereditary cancer
Cancer diagnoses at a young age, more than one tumor in the same person or recurrent cases among biologically related family members.
Planning a pregnancy
Interested in knowing the possibility of transmitting a genetic condition, especially when there is already a diagnosis or family history.
Predispositions and prevention
Search for genetic information that can complement personal and family history and already recommended health care.
Medicines
Questions about how genetic information can complement the assessment of response to some medications.
Cardiovascular health
Personal or family history of cardiovascular events and interest in understanding how genetics can be considered along with other risk factors.
Before the consultation
Bring information that helps tell the story.
You don't have to have everything. Gather what is available and start with what you want to understand.
- 01
Purpose of the conversation
Write what you want to understand: investigate a cause, plan a pregnancy, evaluate a family history or complement a care decision.
- 02
Personal history
Write down diagnoses, symptoms, treatments, medications and important events, with the approximate ages or dates when you know them.
- 03
Family history
Record, when you know, diagnoses, causes of death or similar manifestations in parents, siblings, grandparents and other biological relatives.
- 04
Documents
Separate reports, laboratory and imaging tests, previous genetic tests and the list of medications in use.
Useful questions
Use open-ended questions to understand the options.
Choose the ones that make sense to you and write down your answers during the consultation.
About the goal
“What could a genetic evaluation help clarify in this case?” “Is there information or assessments we should gather first?”
About the test
“What type of testing could be considered and why?” “Would the test be individual or would it include family members?” “What does the method not detect?”
About the results
“What outcomes are possible?” “Could there be findings that are uncertain or unrelated to the main question?” “How could the report change care?”
About continuity
“Who will discuss the result with me?” “When might a reanalysis be useful?” “What implications could the result have for the family?”
About the process
“What samples and documents will be needed?” “Are there requirements from the health plan or the person responsible for paying?” “How will the data and sample be protected?”
Informed decision
Also ask what the test may not answer.
Possibilities
More information for care.
Depending on the case, a finding can clarify a hypothesis, guide follow-up, reduce repetitive investigations or provide relevant information for family members.
Not every test finds a cause.
A negative result does not exclude all genetic conditions.
A variant may arise that does not yet have a defined meaning.
A VUS does not confirm a diagnosis nor should it guide a change of care; if reported, it remains accompanied by Infinity VUS.
Each method sees different types of change.
More coverage does not mean that one test is best for everyone.
Frequently asked questions
To leave the consultation with clarity.
Do I need to request a specific test?
No. Start by describing your question and background. The professional assessment relates the clinical question to the options and limitations of each test.
What if there is already a negative genetic test?
Take the report and, if possible, information about the method used. Depending on the case, the professional can discuss whether a review, reanalysis or different approach would add information.
How to talk about coverage?
Ask which documents demonstrate the indication and confirm directly with the health plan or person responsible for payment the contract, network and authorization rules. Referral does not guarantee coverage.
Can I have this conversation via teleservice?
This depends on the professional and the service. When available, the service must preserve consent, confidentiality, adequate recording and the possibility of in-person assessment when necessary.
After the conversation
If there is a next step, organize the flow with the team.
NeoGenomica can explain the available tests, documentation and sample collection after clinical guidance.
For patients and families
Information for each stage of the journey.
Start with the topic that comes closest to your question.
