title: The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
abstract: OBJECTIVE
  To describe patient characteristics, standard operating procedure, and uptake of genetic testing at the multidisciplinary Cardiac Genetics Clinic (CGC) at the Royal Melbourne Hospital during its first 6 years.
  
  
  METHODS
  Database exploration of referral diagnoses, sex, number of clinic visits and incidence of genetic testing in a population of individuals attending the CGC.
  
  
  METHODS
  Tertiary referral hospital (Royal Melbourne Hospital) providing cardiac genetics services to the state of Victoria.
  
  
  METHODS
  All individuals initially attending the clinic between July 2007 and July 2013, either as the proband or as an at-risk family member.
  
  
  METHODS
  Classification of patients into diagnostic categories, number of probands and at-risk relatives assessed, incidence and outcomes of genetic testing.
  
  
  RESULTS
  1170 individuals were seen for the first time over the 6-year period; 57.5% made only one visit. The median age was 39 years. Most were encompassed within four broad diagnostic categories: cardiomyopathy (315 patients), aortopathy (303 patients), arrhythmia disorders (203 patients) and resuscitated cardiac arrest and/or family history of sudden cardiac death (341 patients); eight patients had "other" diagnoses. Genetic testing (mutation detection or predictive testing) was undertaken in 381 individuals (32.6%), and a pathogenic mutation was identified in 47.6% of tests, representing 15.3% of the total population.
  
  
  CONCLUSIONS
  The CGC fulfils an important role in assisting clinicians and patients by reviewing genetic cardiac diagnoses. Clinical practice during the study period moved from a selected candidate gene approach to broader gene panel-based testing. This move to next-generation sequencing may increase the detection of mutations and variants of unknown significance. A major contribution by the clinic to the care of these individuals and their families is the provision (or negating) of a diagnosis, and of a plan for managing risks of predictable cardiac disease.
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC dominica.zentner@mh.org.au.
authors.forename: Dominica
authors.initials: D
authors.lastname: Zentner
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Tina N
authors.initials: TN
authors.lastname: Thompson
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Paul A
authors.initials: PA
authors.lastname: James
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Alison
authors.initials: A
authors.lastname: Trainer
authors.affiliation: Children's Hospital at Westmead, Sydney, NSW.
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Adès
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, VIC.
authors.forename: Ivan
authors.initials: I
authors.lastname: Macciocca
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Taylor
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Kirsty
authors.initials: K
authors.lastname: Mann
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Michael
authors.initials: M
authors.lastname: Bogwitz
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Nigel
authors.initials: N
authors.lastname: Lewis
authors.affiliation: Victorian Institute of Forensic Medicine, Melbourne, VIC.
authors.forename: Natalie
authors.initials: N
authors.lastname: Morgan
authors.affiliation: Royal Melbourne Hospital, Melbourne, VIC.
authors.forename: Jitendra
authors.initials: J
authors.lastname: Vohra
authors.affiliation: Melbourne Health, Melbourne, VIC.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D017146:Models, Organizational; D009154:Mutation; D010348:Patient Care Team; D014739:Victoria