Why genetics services should contact at-risk relatives directly

Abstract

Finding out you have a genetic mutation is not an insular experience: this difficult revelation nearly always has implications for relatives as well. Often, good clinical interventions are available that could safeguard relatives' future health and perhaps even save their life. However, it's sometimes difficult to make sure this important information gets passed throughout families efficiently, sensitively and accurately. For Caroline Rich, who was diagnosed with breast cancer at 28, the processes of family communication were unsuccessful (1). Caroline only learned that there was a BRCA1 mutation in her family after her cancer had developed. Although several members of her family knew about it, no-one had thought to tell her. There wasn't a feud or any explicit refusal to disclose, but the fact that her grandmother and two cousins carried the mutation never made it through. Within clinical genetics services, there are two broad models for the dissemination of information throughout families. The first and most common approach is 'family contact', which requires a family member, usually the proband who has the detected mutation, to approach their at-risk relatives with information about their condition, and to tell them about contacting the genetic services for testing. The second method is for genetics services to approach relatives directly, using contact details provided by the patient. In an article published last year (2) we argue that for many genetic disorders, clinical genetics services have a duty to attempt to use direct contact, rather than merely relying on family-mediated communication. Direct contact is one way by which Caroline could have been given the information she needed. Whilst it may not be suitable to use direct contact to warn relatives for every genetic condition, we believe that it is suitable and appropriate when there is a clear clinical intervention available to reduce risk. However, direct contact does not mean that patients are left out of the picture. In fact, our model depends upon working in close partnership with patients to ensure that serious harm can be avoided. It also has several advantages.