We are happy to share this interview conducted by Front Line Genomics. Originally published here.
Genetic counsellors are the public face of precision medicine. Striking a balance between genomics and people, by providing information and support to patients who may be in very vulnerable positions. Genetic counsellor, social scientist and member of the Association of Genetic Nurses and Counsellors*** Anna Middleton explains how the advent of genomics is changing the way that counsellors work.
Who are genetic counsellors in the UK?
Genetic counsellors are either health professionals who have done an MSc in Genetic Counselling or specialist nurses who have done master’s level training in counselling and genetics. We are not usually medics, but work closely with our medical colleagues, who are called Clinical Geneticists.
Are genetic counsellors engaging with genomics in the UK?
Yes, very much so. Every Regional Clinical Genetics service in the UK, which is where the majority of genetic counsellors work, is engaging with genomics on some level. Whilst many centres might not be offering in-house whole genome sequencing yet, some are and many are attached to the 11 new Genomic Medicine Centres that are recruiting into the 100,000 Genomes Project. Genetic counsellors are not routinely involved in variant interpretation in the UK, but they are increasingly part of multi-disciplinary teams that work together to assimilate clinical and scientific information to choose the most likely pathogenic variant for a patient.
Does genomics change how you do genetic counselling?
Yes and no. At the moment sequencing technologies are being used as the resource from which you can answer a clinical question. But that clinical question is often still the same as it has always been – e.g. is the condition in this family due to a single Mendelian condition? So, whilst we might have access to sequence data, we are not reporting all of it and are only using it to explore a specific question, say, cancer genes or variants linked to cystic fibrosis etc which is similar, in many ways, to how genetic counsellors have always practiced. We are moving much more towards multidisciplinary working in genomic medicine. Interpretation of genomic results and its translation to the family often requires a whole team approach (i.e involvement of clinical molecular and cytogenetic scientists, clinical geneticists, specialist physicians and genetic counsellors)…
Read the full interview here on page 35, including genetic counsellors’ need to advise about uncertainty.