Treatment, Management, and Referral
Turning diagnosis into care
Counsellors do not prescribe but must understand management pathways well enough to support informed decisions and appropriate referrals. Know the broad categories: enhanced surveillance, risk-reducing surgery, chemoprevention, enzyme or substrate therapies for selected metabolic disorders, and supportive and palliative care. Understand that management is gene-, variant-, and family-specific and evolves with evidence.
Referral pathways
Recognize when to involve cardiology, oncology, neurology, metabolism, ophthalmology, or reproductive specialists, and when to involve social work, psychology, or patient advocacy groups. Care coordination includes cascade testing of at-risk relatives, written family letters, and follow-up to confirm relatives were informed and offered testing.
Shared decision-making
Present options with their benefits, burdens, and uncertainties, then elicit the client's values. Avoid framing surgery as the "right" choice or surveillance as "doing nothing." Discuss adherence realistically, since surveillance is only effective if completed.
Traps
Questions test recommending a specific intervention rather than presenting options; forgetting that risk-reducing surgery has its own consequences and is not equivalent to eliminating risk; and omitting cascade testing. Another trap is assuming a management plan applies to all family members regardless of their own genetic status.
Worked example
A client with a pathogenic Lynch syndrome variant asks what to do. The counsellor explains that surveillance and risk-reducing options exist, that recommendations depend on the specific gene, and that decisions are made with gastroenterology and gynecology. The counsellor arranges referrals, provides a family letter for cascade testing, and schedules follow-up to confirm relatives were reached. Rule of thumb: the counsellor's job is to inform, refer, and coordinate, not to prescribe.