What is a clinical geneticist? Insights and an audit from first year training.

Kamien B

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What is a clinical geneticist? Insights and an audit from first year training.

机译：什么是临床遗传学家？第一年培训的见解和审核。

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Clinical geneticists are physicians who have completed basic training in paediatrics or adult internal medicine, followed by 3 years of advanced training. There are only 82 clinical geneticists in Australia. Confusion occasionally arises because we work in a team setting with genetic counsellors who have a basic science, nursing or psychology background and have completed training in genetic and counselling theory. Diagnostic consultations require a physician, whereas genetic diseases with an established diagnosis are seen by a counsellor (e.g. familial breast and colorectal cancer, known Mendelian diagnoses, such as cystic fibrosis, or high risk antenatal screening).

机译：临床遗传学家是指已完成儿科或成人内科基础培训，并经过3年高级培训的医生。澳大利亚只有82位临床遗传学家。由于我们与具有基础科学，护理或心理学背景并且已完成遗传学和咨询理论培训的遗传咨询师在团队中合作，因此有时会引起混乱。诊断咨询需要医生，而咨询员会确定具有明确诊断的遗传疾病（例如家族性乳腺癌和大肠癌，已知的孟德尔诊断，例如囊性纤维化或高危产前检查）。

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《Internal medicine journal》 |2010年第7期|共5页
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Kamien B;
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1. What is a clinical geneticist? Insights and an audit from first year training. [J] . Kamien B Internal medicine journal . 2010,第7期

机译：什么是临床遗传学家？第一年培训的见解和审核。
2. Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors [J] . Shyr Casper, Kushniruk Andre, van Karnebeek Clara D. M., Journal of the American Medical Informatics Association : . 2016,第2期

机译：用于临床外显子组和基因组分析的动态软件设计：来自生物信息学家，临床遗传学家和遗传咨询师的见解
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4. Autopsy as on Outcome and Performance Measure: Three Years of Hospital Autopsy as an Instrument of Clinical Audit [C] . S. DErrico, M. Martelloni, S. Niballi, International Ergonomics Association, Congress . 2019

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5. Sun Valley Middle School: A case study analysis of a California state scholastic audit school and the development of a clear conceptual framework to turning around a failing school, doubling student performance, and a first-year principal's journey through the audit process. [D] . Davis, Jeffrey Alan. 2007

机译：太阳谷中学：对加利福尼亚州立大学审计学校的案例研究分析，以及为扭转失败的学校，使学生表现翻倍以及一年级校长经历审计过程而建立的清晰概念框架。
6. Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians clinical geneticists and genetic counselors [O] . Casper Shyr, Andre Kushniruk, Clara D.M. van Karnebeek, 2016

机译：用于临床外显子组和基因组分析的动态软件设计：生物信息学家临床遗传学家和遗传咨询师的见解
7. Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors [O] . Casper Shyr, Andre Kushniruk, Clara D.M. van Karnebeek, 2015

机译：临床外壳和基因组分析的动态软件设计：生物信息管理员，临床遗传学家和遗传辅导员的见解

What is a clinical geneticist? Insights and an audit from first year training.

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