Genetics for the clinician - basics to brilliance


Tuesday 16 January 2018


Venue Royal Society of Medicine
1 Wimpole Street
Organised by

Paediatrics & Child Health Section


6 CPD Points

Event Image

about this event

The aim of this educational meeting day is to provide clinicians working on paediatrics and child health with an opportunity to refresh their general knowledge of genetics and genomics, learn how to interpret genomic reports, how to deal with the ethical issues and how to maximise patient benefit from the evolving availability and  mainstreaming of genomic medicine in the NHS. 

The initial sessions will introduce basic terms and vocabulary related to genetic medicine. Sessions on clinical dysmorphology and investigations are aimed at how HCPs can best use the resources available to them in a clinical and educational context. The latter part of the day discusses how advances in genetics is influencing clinical practice and benefiting patients including a session on the ethics of genetic testing and consent. The day is drawn up in partnership with Genomics Education Programme, PHG Foundation and Chelsea and Westminster Hospital NHS Foundation Trust . The speakers are all highly regarded experts in their field whose contributions would be invaluable to the educational aspect of the day.


RSM member: £35 - £85

Non-member: £45 - £160

*Following registration you will be contacted appropriately by email with; your booking confirmation, feedback survey and attendance certificate. For full details of the RSM privacy policy, click here



Genetics for the clinician – understanding genetics

Chair: Dr Anneke Seller, Scientific Director, HEE Genomic Education Programme

8.30 am

Registration, tea and coffee

8.55 am

What you need to know about genetics

Leigh Batten, Technical Service Manager—Genomics, HCA Laboratories

9.25 am

Clinical dysmorphology

Dr Sue E Holder, Consultant Clinical Geneticist, North West Thames Regional Genetics Service

9.55 am

Genetic testing - from cytogenetics to genomics

Dr Birgitta Bernhard, Consultant Paediatrician and Geneticist, Evelina Children’s Hospital

10.25 am


10.40 am

Tea and coffee break

Genetics for the clinician – the wider context

Chair: Dr Hilary Burton, Consultant in Public Health, PHG Foundation

11.00 am

Interpreting genetic results

Dr Anand Saggar, Senior Consultant in Clinical Genetics, St George’s Hospital

11.30 am

Educational opportunities for the clinician

Dr Michelle Bishop, Education Development Specialist, Health Education England's Genomics Education Programme

12.00 pm

Developing the National Genomic Medicine Service

Professor Lyn Chitty, Professor for Genetics and Fetal Medicine, UCL Great Ormond Street Institute for Child Health

12.30 pm


12.45 pm


Translational sessions – how does genomics change clinical practice

Chair: Professor Neena Modi, President, Royal College of Paediatrics & Child Health

1.30 pm

Ethics and consent

Professor Anneke Lucassen, Professor of Clinical Genetics, University of Southampton

2.10 pm

Autoinflammation (genetic inflammation)

Professor Paul Brogan, Professor of Vasculitis, UCL Great Ormond Street Institute of Child Health

2.40 pm

Paediatric neurology

Dr Maria Kinali, Consultant Paediatric Neurologist, Chelsea & Westminster Hospital

3.10 pm

Tea and coffee break

3.30 pm

Paediatric oncology, oncology

Professor Louis Chesler, Professor of Paediatric Cancer Biology, The Institute of Cancer Research

4.00 pm

Paediatric endocrinology

Professor John Achermann, Wellcome Trust Senior Research Fellow, UCL Great Ormond Street Institute of Child Health

4.30 pm

Q&A, wrap up and future opportunities

All speakers

4.45 pm

Close of meeting

register for this event

  • Online registrations is now closed.
  • Registrations are accepted on the day, however lunch is not guaranteed.
  • RSM member rates £35 - £85
  • Non member rates £45 -£160


View rates for all membership types:

View rates

Need somewhere to stay in London?

RSM members

Enjoy our excellent accommodation facilities right here at the RSM


Non members

Stay at our Grade I listed Georgian townhouse just 5 mins walk from RSM


organiser's details

For information on this event, contact Andrea TorokTel: 02072902986 Email: arrow