Next Steps Checklist

Educational template. Use it to prepare questions and organize follow-up. Not medical advice.

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Preparing for Your Appointment
Bring these notes to your appointment.

  • Bring a copy of your genetic test results

    Your provider needs to see the exact results, including variant IDs and classifications

  • Prepare a family health history going back at least 3 generations

    Family history helps put genetic results in context and assess true risk

  • List your current health conditions and medications

    Your overall health picture affects how results are interpreted

  • Write down your questions in advance

    Appointments can be overwhelming - having written questions ensures you cover everything

  • Consider bringing a family member or friend

    They can help take notes and provide emotional support

  • Know the name of the testing company and test type

    Different tests have different limitations that affect interpretation

Family Health History Information to Gather
Gather details before you meet a clinician/genetic counselor.

For each family member, note:

  • Relationship to you (mother, father, sibling, etc.)
  • Current age or age at death
  • Health conditions they have/had
  • Age when each condition was diagnosed
  • Cause of death if deceased
  • Ethnic background

Particularly important conditions to ask about:

  • Cancer (type, age at diagnosis)
  • Heart disease (age at diagnosis or heart attack)
  • Diabetes (type, age at diagnosis)
  • Neurological conditions (Alzheimer's, Parkinson's, etc.)
  • Genetic conditions or birth defects
  • Multiple miscarriages or infant deaths
  • Early death (before age 50)

Family members to include:

  • Parents
  • Siblings
  • Children
  • Grandparents (all 4 if possible)
  • Aunts and uncles
  • First cousins
  • Half-siblings if relevant
Understanding Confirmatory Testing
When it may be appropriate and what it usually involves.

When it may be needed

  • DTC test showed a pathogenic or likely pathogenic variant
  • VUS result in a gene relevant to your family history
  • Making medical decisions based on genetic information
  • Results don't match expected family pattern

What to expect

  • Clinical test ordered through healthcare provider
  • May require blood draw (more accurate than saliva)
  • Results interpreted by medical geneticist or genetic counselor
  • Insurance may cover if medically indicated
  • Results become part of medical record
Finding a Genetic Counselor
Who they are and how to find one.

Directories & resources

What they can help with

  • Explain genetic test results in plain language
  • Help you understand personal and family risk
  • Discuss screening and prevention options
  • Coordinate care with other specialists
  • Support family communication about results
  • Many offer telehealth appointments

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