Cascade Testing Family Communication Letter

Cascade Testing Family Communication Letter

Date: [Month and year]

From: [Clinic/program name, phone number, website if available]

To: Family members and their healthcare providers

Why You Are Receiving This Letter

[Plain-language explanation that a hereditary genetic finding has been identified in the family and that biological (blood) relatives may be at increased risk] (Use neutral wording such as "a relative in your family"; do not name or identify the tested individual. Avoid deterministic language.)

[Plain-language statement that evaluation with a genetics professional may help with prevention, early detection, or treatment] (Limit to one or two short paragraphs total.)

Summary of the Familial Finding

(Omit rows where information is not available.)

For family members (plain language)	For clinicians (technical details)
Condition or syndrome: [Condition name in plain language]	Condition or syndrome: [Formal diagnosis name]
Gene(s): [Gene name(s), if known] (Genes are instructions in our DNA.)	Gene(s): [GENE symbol(s)]
Variant (genetic change): [Brief plain-language description] (A variant is a genetic change, sometimes called a mutation. If variant details are unknown, state that relatives should obtain a copy of the tested relative's report or consult a genetics professional.)	Variant details: [HGVS nomenclature] — [pathogenic / likely pathogenic / VUS / likely benign / benign]
Test type: [germline (blood) test / tumor-only test / clinical diagnosis without genetic testing]	Specimen type: [germline / tumor-only / clinical diagnosis without genetic confirmation]

(If finding is from tumor-only testing, include: "This result was identified in tumor testing. Germline (inherited) testing in the affected individual is typically needed first to confirm whether this finding is inherited before relatives consider testing.")

Who Should Consider Genetic Evaluation

This information applies to biological (blood) relatives only, not relatives by marriage.

[Lineage: maternal / paternal / both / unknown] (If unknown, state that a genetics professional can help determine the relevant lineage.)

• Highest priority: First-degree relatives (parents, full siblings, children)
• Next: Second-degree relatives (grandparents, aunts, uncles, nieces, nephews, half-siblings)
• Then: More distant relatives on the relevant side of the family

(If inheritance pattern is known, include probability statement, e.g., "In autosomal dominant conditions, each first-degree relative has approximately a 50% chance of carrying the same variant.")

(For adult-onset conditions, include: "Testing in minors is generally deferred unless results would change medical care during childhood.")

What Test to Request

(Include ONLY the single scenario below that matches this family's situation. Delete the others.)

If known familial pathogenic or likely pathogenic variant:

[Plain-language recommendation for targeted (single-site) testing for the specific familial variant]

Clinician order line: Order targeted testing for the known familial [pathogenic / likely pathogenic] variant in [GENE]: [HGVS nomenclature].

If clinical diagnosis without identified variant:

[Recommend genetic counseling; testing strategy will be individualized. If possible, the most informative affected relative should undergo comprehensive testing first.]

If Variant of Uncertain Significance (VUS):

Variants of uncertain significance should not be used for medical decision-making in relatives. Do not pursue targeted testing for a VUS. [Recommend genetics consultation to assess family-history-based risk and discuss appropriate screening.]

If tumor-only finding without germline confirmation:

Do not pursue targeted testing in relatives at this time. Germline testing in the affected individual is typically needed first to confirm whether the finding is inherited.

Suggested script when scheduling: "I have a biological relative with a hereditary condition. I would like genetic counseling and to discuss testing for the known familial variant in [GENE], if applicable."

(Encourage relatives to bring a copy of the tested relative's genetic test report if available; sharing is the patient's choice and the report may contain identifiers.)

How to Access Genetic Counseling and Testing

• Contact a local genetics clinic or specialty program
• Ask your primary care provider or specialist for a referral to genetic counseling
• Consider telehealth genetic counseling services
• Use professional directories to locate certified genetic counselors

Insurance coverage varies by plan and clinical situation; genetic counselors can discuss costs and coverage. Genetic nondiscrimination protections generally cover health insurance and employment but may not extend to life, disability, or long-term care insurance.

Important: This letter is for general information and is not a substitute for personalized medical advice. Genetic variant interpretations may change over time; please stay in contact with genetics professionals for updates.