Dr Kay  Metcalfe

I graduated from University of Wales College of Medicine in 1987 and trained initially in paediatrics until moving into clinical genetics in 1993. Research for my MD focused mainly on Elastin gene related disorders such as SVAS and Williams syndrome and I maintain an ongoing interest in that area.

I have been a full-time NHS Consultant Clinical Geneticist at St Mary?s Hospital Manchester since 2001. My main clinical interests are inherited cardiac conditions, dysmorphology and fetal medicine. I was Clinical Genetics training programme director /STC chair from 2004-2011 and have been Clinical Effectiveness lead for genetics since October 2012. I co-led the first National Clinical Genetics audit on genetic testing in Hypertrophic cardiomyopathy and Long QT in 2013. Since 2010 I have been Royal College of Physicians workforce lead for Clinical Genetics.

I have been an elected committee member of the Association for inherited Cardiac conditions since 2010 and through that have contributed to clinical pathway development and educational meetings.

Following the 2003 Government White paper ? Our inheritance, our future?, we achieved a Service Development bid, a large component of which was to look at different models of delivery of cardiac genetic services and how to address unmet need. We currently receive approximately 440 new referrals per year to the cardiac genetic clinic (excluding Marfan syndrome) and additional patients are seen through the genetic counselor-supported genetic cardiac conditions clinic run by cardiology colleagues. In December 2013 our team implemented the clinical use of in-house Next Generation sequencing panels to improve the mutation pick up rate for diagnosis of inherited cardiac conditions.