A Randomized Non-Inferiority Trial of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2).

Pre-test counselling and/or return of results delivered through a digital intervention instead of a genetic counsellor

eREACH2 is a randomised four-arm non-inferiority trial in which pre-test genetic counselling (visit 1) and/or return of results (visit 2) was replaced by a patient-centred digital intervention, in people with and without cancer who met criteria for hereditary cancer testing. Of 773 participants recruited nationwide (46.6% from rural areas, 33% with a personal history of cancer), 584 (76%) completed testing: 14% had a positive result and 16% a variant of uncertain significance. In the primary intention-to-treat analyses, non-inferiority was met for uptake of genetic services and for anxiety, but results were inconclusive for knowledge. The arm combining digital pre-test counselling with genetic counsellor disclosure (arm C) showed consistently favourable effects. Patients who received a positive or uncertain result through digital disclosure had higher MICRA scores, indicating a more negative response to testing.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The most useful finding is the asymmetry: digital delivery holds for pre-test counselling but not for disclosing a positive or uncertain result, which argues for a hybrid model in which the genetic counsellor is reserved for disclosing actionable results. The trial directly addresses the genetic counsellor shortage, but it is a preprint and the psychosocial effect measured is short-term. With 16% variants of uncertain significance, more than positive results, the question of their digital disclosure is far from marginal.

Analysis by Dr Thibaut Benquey