Genetic counseling appointments are dense — typically 60–90 minutes covering genetic test results, inheritance, family planning, and coordination. Coming prepared makes the appointment vastly more useful. This worksheet helps you organize your family history, gather your test results, and identify the questions that matter most for your situation.
Print and fill in before your visit. Bring it with you.
Section 1 — Visit basics
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VISIT INFORMATION
Date of appointment: __________________________
Genetic counselor / clinician: _______________
Practice / hospital: _________________________
Visit type: ☐ Initial ☐ Follow-up ☐ Pre-pregnancy
☐ Variant reanalysis ☐ Family member testing
Who's attending: _____________________________
Reason for visit (in your words):
__________________________________________________________
__________________________________________________________
═══════════════════════════════════════════════════════════════Section 2 — Family pedigree
A family pedigree (medical family tree) is one of the most important tools in genetic counseling. Even if your counselor draws one with you, having it sketched in advance saves time.
Three-generation pedigree
Fill in as much as you know. "I don't know" is fine for some entries.
═══════════════════════════════════════════════════════════════ GENERATION 1 — GRANDPARENTS Maternal grandfather: Name: ________________________ Living/deceased: __________ Ethnicity: ____________________ Country of origin: ________ Health conditions: ___________________________________________ Cause of death (if): ________________________________________ Maternal grandmother: Name: ________________________ Living/deceased: __________ Ethnicity: ____________________ Country of origin: ________ Health conditions: ___________________________________________ Cause of death (if): ________________________________________ Paternal grandfather: Name: ________________________ Living/deceased: __________ Ethnicity: ____________________ Country of origin: ________ Health conditions: ___________________________________________ Cause of death (if): ________________________________________ Paternal grandmother: Name: ________________________ Living/deceased: __________ Ethnicity: ____________________ Country of origin: ________ Health conditions: ___________________________________________ Cause of death (if): ________________________________________ Are any of the above related to each other (consanguinity)? ☐ No ☐ Yes — describe: ___________________________________ ═══════════════════════════════════════════════════════════════
═══════════════════════════════════════════════════════════════ GENERATION 2 — PARENTS, AUNTS, UNCLES Mother: Name: ___________________ Age: _____ Health: ____________ ALMS1 carrier status: ☐ Yes ☐ No ☐ Not tested Father: Name: ___________________ Age: _____ Health: ____________ ALMS1 carrier status: ☐ Yes ☐ No ☐ Not tested Mother's siblings (aunts/uncles): 1. ___________________________________________________________ 2. ___________________________________________________________ 3. ___________________________________________________________ 4. ___________________________________________________________ Father's siblings (aunts/uncles): 1. ___________________________________________________________ 2. ___________________________________________________________ 3. ___________________________________________________________ 4. ___________________________________________________________ Any miscarriages, stillbirths, or infant deaths in family? __________________________________________________________ ═══════════════════════════════════════════════════════════════
═══════════════════════════════════════════════════════════════ GENERATION 3 — AFFECTED PERSON, SIBLINGS, COUSINS Affected person (or person being evaluated): Name: _________________________ Age: _____ Diagnosis: ____________________ Genetic findings: _____________________________________________ Siblings: 1. Name: __________ Age: ___ Health: ________ Tested: __ 2. Name: __________ Age: ___ Health: ________ Tested: __ 3. Name: __________ Age: ___ Health: ________ Tested: __ First cousins (children of mother's siblings): __________________________________________________________ First cousins (children of father's siblings): __________________________________________________________ Has anyone in the family previously been told they have: ☐ A retinal disease (RP, LCA, cone-rod dystrophy) ☐ Hearing loss (genetic / progressive) ☐ Childhood-onset cardiomyopathy ☐ Severe insulin resistance / early-onset T2DM ☐ Bardet-Biedl Syndrome / similar ☐ Other genetic condition: ______________________________ ═══════════════════════════════════════════════════════════════
Pedigree drawing space
Draw your family tree using basic genetic-pedigree symbols (circles for females, squares for males, filled in for affected, slashes through deceased, horizontal lines connecting partners, vertical lines to children).
[Space for handwritten pedigree drawing]
The genetic counselor will help refine this during the visit. Even a rough sketch in advance is useful.
Section 3 — Genetic test results
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GENETIC TESTING SUMMARY
Affected person's testing:
Lab: ___________________________________________________
Test type: ____________________________________________
Date: ____________________
Variants identified:
1. _______________________________________________________
Classification: ____________________________________
2. _______________________________________________________
Classification: ____________________________________
Compound heterozygous / homozygous: __________________
Family member testing completed:
Mother — variant tested: ___________________________________
Result: ☐ Positive (variant ___ ) ☐ Negative
Father — variant tested: ___________________________________
Result: ☐ Positive (variant ___ ) ☐ Negative
Sibling 1 — variant tested: ________________________________
Result: ___________________
Sibling 2 — variant tested: ________________________________
Result: ___________________
Other family member testing:
__________________________________________________________
Variant of uncertain significance (VUS) status:
☐ All variants confirmed pathogenic / likely pathogenic
☐ One or more VUS — names: __________________________
═══════════════════════════════════════════════════════════════Section 4 — Questions to ask
Common questions families bring. Customize and add your own.
About the diagnosis
☐ Are these variants definitively causing Alström? ☐ Have these specific variants been seen in other families? ☐ Has the variant interpretation been updated since our test? ☐ Does the type of variant affect what we should expect clinically? ☐ My specific question: ____________________________________
About inheritance
☐ What's our recurrence risk for future pregnancies? ☐ Are there any family members we should specifically encourage to be tested? ☐ My partner's family history — how does it affect risk? ☐ Will any of our future grandchildren be at risk? ☐ My specific question: ____________________________________
About siblings
☐ Should our other children be tested? ☐ At what age makes sense? ☐ What can carrier status tell us? ☐ Should asymptomatic siblings have any surveillance? ☐ My specific question: ____________________________________
About future pregnancies
☐ What are our reproductive options? ☐ How does prenatal testing work? ☐ How does PGD/IVF work? ☐ What does each option cost roughly? ☐ Are there support resources for couples in our situation? ☐ My specific question: ____________________________________
About research
☐ Are there active research studies my family could join? ☐ Should we register with the ASI clinical database? ☐ Are there any clinical trials we should know about? ☐ Are there opportunities to donate samples for research? ☐ My specific question: ____________________________________
About future appointments
☐ When should we come back? ☐ What would prompt an earlier visit? ☐ Can we contact you between visits with questions? ☐ How do we transition genetic care for our child as they get older? ☐ My specific question: ____________________________________
Section 5 — Practical and emotional
Genetic counseling visits often touch on more than facts. Be ready to discuss:
═══════════════════════════════════════════════════════════════ WHAT WE'RE WORKING THROUGH How are we (parents) doing emotionally? __________________________________________________________ What are our biggest worries right now? __________________________________________________________ What support do we have? What support do we need? __________________________________________________________ Have we connected with patient organizations? __________________________________________________________ Are there family relationships affected by this diagnosis? __________________________________________________________ What are we hoping the genetic counselor can help us with? __________________________________________________________ ═══════════════════════════════════════════════════════════════
Section 6 — During the visit
Bring this to the visit and use it during.
Things to share with the counselor at the start
- Pedigree (your draft)
- Test results
- Specific questions
- Any new family or medical updates since last visit
Things to take notes on
- Updates on variant interpretation
- Recurrence risk numbers (specific percentages)
- Recommended next steps
- Family member testing recommendations
- Resources mentioned
Things to confirm before leaving
- ☐ Next steps clear
- ☐ Recommended testing for whom
- ☐ Communication plan — how to reach the counselor between visits
- ☐ Next appointment scheduled
Section 7 — After the visit
Within 1–2 days:
Update your records
- File the visit notes in the care binder
- Update the family pedigree if there were corrections
- Update test result records
Take action on recommendations
- Schedule any recommended testing
- Reach out to family members about testing options
- Connect with any resources mentioned
Reflect
- What did you learn?
- What's still unclear?
- What surprised you?
- What questions came up after?
Plan for the next visit
- When is it?
- What questions are emerging?
Special situations
Pre-pregnancy genetic counseling
Bring also:
- Partner's testing results (if done)
- Conception timeline
- Plans for prenatal testing
- Insurance information for testing
Sibling testing decisions
Bring also:
- Each sibling's age and current health
- Specific concerns about each
- Family preferences about timing
Variant reclassification follow-up
Bring also:
- Date of original test
- Original variant interpretations
- Any new clinical information about the affected person
What if you can't get to a genetic counseling visit
If genetic counseling isn't easily available:
- Telehealth visits are now widely available
- Patient organizations (ASI, ASUK) can sometimes help connect to genetic counselors
- Reading high-quality material (GeneReviews, NORD) provides background
- Your child's geneticist or pediatrician can answer some questions
- Centers of excellence can provide consultative input
Some questions are better answered by a counselor than self-research, especially around family planning. Push for a counselor visit if it's been a while.
Frequently Asked Questions
How long does genetic counseling take?
First visits: 60–90 minutes typically. Follow-ups: 30–60 minutes. Consultations focused on specific questions: 30 minutes.
Will my insurance cover it?
In the US, most insurers cover genetic counseling when ordered by a referring physician for a clinical reason. Verify with your insurer. NHS in the UK covers counseling as part of clinical genetics services.
Can I see a genetic counselor without a referral?
In some places yes, particularly through commercial services or telehealth. A referral is often more convenient and is sometimes required by insurance.
Can my older child come with me?
Yes — and they should as they get older. Adolescents can engage with genetic counseling about themselves. Adult children may want their own visits to discuss their own family planning.
What's the difference between a genetic counselor and a clinical geneticist?
A clinical geneticist is a medical doctor specializing in genetics. A genetic counselor has a master's degree in genetic counseling. Many families benefit from seeing both. They have overlapping but distinct roles.
Related reading
- Genetic Counseling for Alström Syndrome Families
- Alström Syndrome Genetics: ALMS1 Gene Explained
- How Is Alström Syndrome Inherited?
- Are Both Parents Carriers?
- ALMS1 Mutations: Understanding Your Test Report
- Variants of Uncertain Significance in Alström Testing
- Family Planning Options When You're an Alström Carrier
This worksheet is for informational and organizational purposes. Bring it to your visit and use it as a starting point for conversation.