The Medical journal of Australia · 2015
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Zentner Dominica, Thompson Tina N, James Paul A, Trainer Alison, Adès Lesley C, Macciocca Ivan, Taylor Jessica A, Mann Kirsty, Bogwitz Michael, Lewis Nigel, Morgan Natalie, Vohra Jitendra, Winship Ingrid
Аннотация
OBJECTIVES: 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.
DESIGN: Database exploration of referral diagnoses, sex, number of clinic visits and incidence of genetic testing in a population of individuals attending the CGC.
SETTING: Tertiary referral hospital (Royal Melbourne Hospital) providing cardiac genetics services to the state of Victoria.
PARTICIPANTS: All individuals initially attending the clinic between July 2007 and July 2013, either as the proband or as an at-risk family member.
MAIN OUTCOME MEASURES: 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.
CONCLUSION: 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.
DESIGN: Database exploration of referral diagnoses, sex, number of clinic visits and incidence of genetic testing in a population of individuals attending the CGC.
SETTING: Tertiary referral hospital (Royal Melbourne Hospital) providing cardiac genetics services to the state of Victoria.
PARTICIPANTS: All individuals initially attending the clinic between July 2007 and July 2013, either as the proband or as an at-risk family member.
MAIN OUTCOME MEASURES: 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.
CONCLUSION: 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.