LAUSR

Genetic counselling is a process that aims to support and educate an individual about the medical, psychological and familial aspects of heritable disease. Genetic counselling encompasses a wide range of tasks, from documenting a family history and assessing risk, providing general education about a condition and inheritance patterns, discussing genetic testing options, and providing psychological support to promote adaptation to the diagnosis or carrier status [1]. As we integrate genomics into mainstream healthcare, growing numbers of healthcare professionals and individuals will be impacted. With increasing demand, evaluation of the outcomes of genetic counselling are needed to build a robust evidence base on which to further develop our field. Determining what those outcomes are, and patient-reported outcome measures (PROMs) to effectively assess these then becomes increasingly necessary. In this issue, Voorwinden et al. report outcomes of a large population of patients attending a genetic counselling service [2]. Using the Dutch versions of three well validated PROMs: Genetic Counselling Outcomes Scale (GCOS), the perceived personal control (PPC) questionnaire and the short form of the State-Trait Anxiety inventory (STAI); they report outcomes of patients attending two services for genetic counselling. Overall, all three outcomes; empowerment, PPC and anxiety, improved after genetic counselling. Demographic and clinical variables were assessed at group and individual levels for association with the genetic counselling outcomes. At an individual level, a significant proportion of respondents remained stable (42% on empowerment, 66% on perceived control, 76% on anxiety) or indeed worsened on all outcomes after genetic counselling (10% on empowerment, 13% perceived personal control, 7% on anxiety). In understanding why some do worse, the authors show that the type of genetic result was associated with greater levels of anxiety, however, no other risk factors were identified. An interesting question is therefore raised. How could genetic counselling have been more effective in these families who show worse outcomes? Whether these individuals require more time to adapt and would subsequently improve over time is not known. We cannot disregard the fact that for some participants, even with excellent genetic counselling, adaptation to their diagnosis may not result in better outcomes. For some the future will hold continuing uncertainty about medical outcomes and reconsideration of their imagined future. Importantly though, robust and validated PROMs could flag those patients who require additional support and where genetic counselling may need to be further tailored.