Informed Decision Making

Informed decision making is the process by which a patient reaches a choice that reflects both accurate understanding and their own values. It is broader than informed consent, which is the documented authorization for a procedure. A patient can sign a valid consent form having made a poorly informed decision, and the gap between the two is where most of the counselor's work sits. This page covers the decision process; the consent requirement itself is covered in informed consent.

• Consent is an event; informed decision making is a process. Consent happens at a moment and produces a signature. The decision process runs across the session and sometimes across visits.
• Three components have to be present: adequate information, capacity to use it, and voluntariness. Failure of any one invalidates the decision regardless of the paperwork.
• Material information is what a reasonable person in this patient's position would want to know, which is the standard most jurisdictions now use in place of what a reasonable clinician would disclose. It includes the option of declining and what happens if nothing is done.
• What patients most often are not told in genetics: that a variant of uncertain significance is a likely outcome and what will happen if one is found, that secondary findings may be returned, that insurance implications exist and that GINA does not cover life, disability, or long-term care insurance, and that results have implications for relatives.
• Shared decision making is the model for choices where more than one option is reasonable. The clinician supplies evidence and the patient supplies values, and neither alone determines the answer.
• Equipoise determines the counselor's stance. Where evidence clearly supports one course, such as surveillance for a known pathogenic variant, a recommendation is appropriate. Where the choice turns on values, such as reproductive decisions, it is not. Confusing the two produces either abandonment or direction.
• "What would you do?" is best answered by first exploring what prompts the question, since it is often a request for permission or for reassurance rather than for the counselor's biography. A blanket refusal to engage reads as evasive, and a direct answer can carry more weight than intended.
• Capacity is decision-specific and fluctuating. A patient may have capacity for one decision and not another, and acute distress can temporarily impair it. Capacity assessment asks whether the person can understand, appreciate, reason, and express a choice.
• Voluntariness is threatened by family pressure, by employer or insurer interest, and occasionally by the clinical team's own enthusiasm. Asking whether the patient is deciding freely is a legitimate question.
• Documenting the decision process, not just the signature, is what demonstrates that the choice was informed.

• A patient signs a consent form for exome sequencing without ever having been told a variant of uncertain significance is a likely outcome. The consent is documented and the decision was not informed. When a VUS returns, she experiences it as a diagnosis nobody warned her about.
• A couple asks the counselor what she would do about a prenatal diagnosis. She asks what makes them want to know, and they say they feel there must be a right answer they are failing to find. Naming that there is no right answer, and that the choice belongs to their values, addresses the actual need better than either answering or deflecting.
• A patient with a known pathogenic variant asks whether she should have surveillance. Here the evidence supports one course, so the counselor recommends it clearly. Treating this as value-neutral would be a failure of the counselor's role rather than respect for autonomy.
• A woman is brought by her husband, who answers for her and states they have decided. The counselor arranges to speak with her alone, which is a voluntariness check, not an accusation, and it is part of confirming the decision is hers.

• Do not treat a signed form as evidence of an informed decision. They are different things and the form is the weaker one.
• Do not omit the possibility of uncertain results. VUS findings are common and are the single most under-disclosed element before sequencing.
• Do not apply nondirectiveness where evidence supports a clear recommendation. Withholding a recommendation about surveillance is not neutrality, it is abandonment.
• Do not answer "what would you do?" reflexively in either direction. Explore the question first.
• Do not assume capacity is global or stable. It is decision-specific and can be temporarily impaired by acute distress.