Questions for a Clinician
Educational template. Use it to prepare questions and organize follow-up. Not medical advice.
General questions
- What does this specific result mean for my health?
- How reliable is this test result? Should it be confirmed with clinical testing?
- What is my actual risk, considering my family history and other factors?
- What screening or preventive measures, if any, do you recommend?
- Should I see a genetic counselor for a more detailed discussion?
- Are there any lifestyle changes that could reduce my risk?
- How often should this result be re-evaluated as science advances?
- Should any of my family members be tested?
If you have a VUS result
- Is this VUS in a gene that's relevant to my family history?
- What's the likelihood this will be reclassified in the future?
- Should I enroll in a variant reclassification notification program?
- Should I base any medical decisions on this VUS, or wait for more evidence?
- Is there additional family testing that could help clarify this result?
If you have a pathogenic/likely pathogenic result
- What is the penetrance of this variant - what's my actual chance of developing symptoms?
- At what age do symptoms typically appear, if they do?
- What screening schedule do you recommend for early detection?
- Are there preventive options I should consider?
- What are the implications for my family members?
- Should I be referred to a specialist for this condition?
- Are there clinical trials or research studies I might be eligible for?
If this is carrier screening
- What does being a carrier mean for my health?
- What are the implications if my partner is also a carrier?
- Should my partner be tested before we have children?
- What are my reproductive options if we're both carriers?
- Can this carrier status affect my own health in any way?
About the test itself
- What type of test was this (genotyping vs sequencing)?
- What genes or variants were included in this test?
- What are the limitations of this particular test?
- Are there variants or genes NOT covered that I should know about?
- Is the lab that performed this test accredited?