Results Disclosure

Results disclosure is the process of communicating genetic test results to patients, encompassing expected results, unexpected findings, and variants of uncertain significance. Effective disclosure requires preparation, empathy, clarity, and a plan for follow-up, especially when results carry significant medical or psychosocial implications.

• Delivering positive (abnormal) results: Begin by assessing what the patient already knows and expects. Provide a brief "warning shot" ("I have some important results to share with you"). State the result clearly and in plain language before providing details. Allow silence and emotional processing. Avoid overwhelming the patient with management details in the same breath as the diagnosis. Schedule follow-up for detailed planning when appropriate.
• Unexpected findings (incidental/secondary): Incidental findings are discovered unintentionally (e.g., a chromosome abnormality found on a microarray ordered for developmental delay that reveals non-paternity). Secondary findings are actively sought as part of the analysis (e.g., ACMG SF v3.2 gene list in exome/genome sequencing). Patients should be counseled about the possibility of both before testing and given the option to opt out of secondary findings where possible.
• ACMG Secondary Findings (SF) list: The ACMG recommends that laboratories report pathogenic and likely pathogenic variants in a defined list of medically actionable genes when performing clinical exome or genome sequencing. The current list (SF v3.2) includes 81 genes. Patients should be informed of this policy during pre-test counseling and given the opportunity to opt out.
• Disclosing VUS: Explain that the variant's clinical significance is currently unknown. Emphasize that medical management should not change based on a VUS alone. Discuss the possibility of reclassification (upgrade to pathogenic or downgrade to benign) over time. Offer periodic follow-up or re-analysis. Avoid using alarming language: frame the VUS as an incomplete answer, not a bad result.
• Long-term follow-up planning: After results disclosure, develop a clear plan that includes referrals (specialists, mental health, support groups), cascade testing for at-risk relatives, surveillance schedules, and a timeline for re-contact if results may be updated. Provide a written summary.
• Duty to recontact debate: There is ongoing professional debate about whether genetics providers have an obligation to recontact patients when new evidence changes the interpretation of a previously reported variant (e.g., a VUS reclassified as pathogenic). Arguments in favor cite beneficence; arguments against cite practical constraints (resources, lost contact, whose responsibility). Currently, there is no consensus and no legal mandate in most jurisdictions, though many laboratories and clinics have re-analysis policies.
• Telephone and telehealth disclosure: Some results may be disclosed by phone or video, particularly when the patient prefers it, when results are expected and straightforward, or when geography is a barrier. Complex or devastating results generally benefit from in-person disclosure when feasible, but patient preference should guide the approach.
• Cascade testing and family communication: After a positive result, the counselor should help the patient develop a plan for informing at-risk relatives. Provide a family letter summarizing the result and testing recommendations that the patient can share. The counselor generally cannot contact relatives directly without the patient's consent due to confidentiality.

• A patient undergoes exome sequencing for intellectual disability, and a secondary finding reveals a pathogenic variant in MLH1 (Lynch syndrome). This was consented for during pre-test counseling. The counselor must now disclose a result the patient was not expecting to be the focus of testing, explain its implications for cancer risk, and arrange referrals for colonoscopy surveillance and cascade testing.
• A prenatal microarray performed for a fetal anomaly reveals a large region of homozygosity consistent with consanguinity or uniparental disomy, which was not suspected. This is a true incidental finding with sensitive social implications. The counselor must consider how to disclose this, recognize the potential for revealing non-disclosed consanguinity, and focus the conversation on the medical implications for the fetus.
• A patient received a VUS on a hereditary breast cancer panel two years ago. The laboratory has now reclassified it as likely pathogenic. The clinic contacts the patient for updated counseling and revised management recommendations. This illustrates the importance of long-term follow-up systems and the evolving nature of variant interpretation.
• A woman with a new BRCA1 pathogenic variant result says, "Please don't tell my sister. We're not speaking." The counselor should encourage disclosure (the sister is at 50% risk), offer to help facilitate communication, and provide a family letter. However, the counselor cannot contact the sister without the patient's permission.