Exploring professional issues: the psychosocial component of genetic counseling in genomic healthcare.

Aim: To determine UK genetic counselors' (UKGCs) opinion regarding 'the psychosocial component of the UKGC remit in the new genomics era'. Methods: Facilitated discussions at a national conference (2016) using interactive methodologies (58 participants). Results: UKGCs recognized the rapid rate of change emerging with advances in genomic science. Change will be required to the UKGC remit and the roles, rules, relationships and responsibilities that underpin it (29 topics identified). UKGCs supported their 'unique selling point'; integrating knowledge and the explicit focus on psychosocial aspects of genomic healthcare. By 2019, some of the aspirations have been achieved. Conclusion: UKGCs should proactively position themselves to capitalize on the challenges and opportunities of genomic healthcare to maximize patient benefit.

Multiple renal cysts, ear anomalies, disordered hair growth and unusual facies: a new entity?

A patient is described with renal, ear and hair abnormalities. The patient also had a distinctive facial appearance. No similar patients have been described and it is likely this patient represents a new entity.