Referring Provider Letter (Genetic Counseling Summary)

Date: [Date of letter]

To: [Referring provider name, credentials, clinic/system]

From: [Genetic counselor or geneticist name, credentials, department, contact info]

Patient: [Full name], DOB [Date], MRN [Number or alternative identifier] (If MRN unavailable, include an alternative identifier and note this.)

Re: Genetic Counseling Summary

Encounter: [Date(s) of encounter], [in-person / video / phone]

Dear Dr. [Referring provider last name], (If referring provider unknown, address "To Whom It May Concern" and document the referral source.)

Thank you for referring [Patient preferred name] for genetic counseling regarding [Indication/clinical question].

Key Takeaways

• [Indication and clinical question]
• [Notable pedigree features and critical personal history elements impacting risk]
• [Risk assessment/genetic impression] (Include model-based estimate if available and named.)
• [Genetic testing status: ordered / pending / completed] — [Positive / Negative / Uncertain] [Key gene(s) if applicable]
• [Top action items for the referring provider]

Clinical and Family History

[Reason for referral and relevant personal history] (Summarize key diagnoses, symptom onset ages, pertinent pathology details, and prior genetic testing. Indicate source: patient-reported vs. verified records. Include pertinent negatives affecting risk stratification. If essential records were unavailable, state explicitly rather than inferring.)

[Family history summary] (State pedigree scope and whether pedigree is attached. Highlight key affected relatives by relationship and condition/age at diagnosis—use relational descriptors only, no names. Include relevant ancestry if it affects testing or risk. Document limitations: small family, unknown history, adoption, or limited records. If family history was not obtained, explain why and how this impacts the assessment.)

Genetic Testing

(Include whether testing was ordered, pending, completed, or not pursued.)

• Testing ordered/considered: [Test name and type], [Performing laboratory], [Specimen status], [Expected turnaround] (If testing was considered but not ordered, state why: patient declined, not indicated, insurance constraints, or alternative approach.)
• Results: [Positive / Negative / Uncertain / Pending] (If pending: "Results pending as of [Date]; an updated summary will follow.")
• Key findings: [Gene(s)], [Variant(s) in HGVS nomenclature], [Zygosity], [Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign] (Note relevant test limitations. Omit if results pending or testing not performed.)
• Pretest counseling: [Elements discussed] (Document that result categories, test limitations, medical/familial implications, and privacy considerations were addressed. If consent discussion was limited, state what was covered.)

Assessment

[Genetic risk assessment and impression] (State whether features suggest hereditary, multifactorial, or sporadic etiology. Indicate whether testing criteria were met; cite named models or guidelines for quantitative risks. If results available, interpret whether findings explain the indication and implications for patient and relatives. Distinguish true negative vs. uninformative negative when relevant. For a VUS, state it should not guide major clinical decisions alone and outline clarification strategies: segregation testing, phenotype updates, periodic reinterpretation.)

Recommendations

• [Medical management recommendations] (Screening/surveillance, risk-reducing strategies aligned with results and/or empiric risk; cite briefly, e.g., "per NCCN guidelines.")
• [Referrals] (Specialty clinics, high-risk programs, multidisciplinary care as appropriate.)
• [Additional testing or documentation requests] (Pathology reports, imaging, relative test results.)
• [Cascade testing guidance] (Which relatives should consider testing; whether to begin with an affected relative; how relatives can access genetics services. Use relational descriptors only.)
• [Reproductive considerations] (Include if relevant: prenatal/preconception options, partner testing.)

Follow-Up

[Plan for results disclosure and follow-up] (State how and when results will be delivered if pending; any scheduled follow-up visit; contact information for questions. If variant reinterpretation may be relevant, outline program's approach without overpromising active monitoring.)

Attachments: [Pedigree / laboratory report(s) / patient letter / None] (If patient-reported results were referenced but not verified, note the report was unavailable for verification.)

CC: [Referring provider, PCP, other clinicians as appropriate]

Sincerely,

[Name, credentials, supervising physician if applicable, department, contact information]