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UNSW Medicine & Health Short Courses

Course

Clinical & Laboratory Diagnostic Genomics

Aug 5, 2024 - Aug 25, 2024
1.5 credits

$650 Enrol

Full course description

 

 

Start

5 August to 25 August 2024

Duration

15 hours
(3-week block)

Delivery Mode

2-day face to face workshop at UNSW Kensington campus & online self-paced learning

 

Price

$625.00
(GST inclusive)

15% Discount

Use promo code
CLDG15OFF2 at check out

 

 

 

 

Course overview

We are excited to provide ongoing access to the clinical genomics course after two successful courses in 2023. The focus for the clinical genomics course is to:

  • provide tuition and increase understanding about molecular mechanisms for pathogenicity
  • gain practical understanding of genomic filtering and reporting
  • have expert guidance in the genetic counselling aspects of clinical genomics (click here to enrol in the Genetic Counselling short course).

This short course offers 2-day face to face workshop and online self-paced learning covering contemporary concepts, practical tools, and evidence-based methods in clinical genomic analysis and variant interpretation from a National Association of Testing Authorities (NATA) accredited laboratory genomic facility. The course will enable clinicians requesting genomic testing [a panel, trio or singleton Whole Exome Sequencing (WES), or Whole Genome Sequencing (WGS)] and scientists/clinicians involved in genomic analysis to understand and apply the methodology, bioinformatics and steps involved in genomic analysis and variant curation.

You will gain experience in the genomic consent process, the context in which genomic testing requests are useful, practical genomic analysis and returning complex reports to clinicians and families while addressing genetic counselling implications. The course will deep dive into the clinical genomic analysis process which can incorporate the use of different algorithms (small-scale pathogenic variants, splice and copy number variants), the use of in silico tools and the integration of helpful information from genomic and protein structural databases. It particularly emphasises the importance of a clinical genomic framework in Mendelian disorders, considering disease inheritance, structure and function and principles of genomic filtering to achieve a diagnosis.  

Over a period of 3 weeks, you will access state-of-the-art online sessions on Mendelian disorders, genomic testing and assessing variant pathogenicity. This will include two days of practical face-to-face genomic analysis workshops with multiple cases to solve guided by the team from NSW Health Pathology Randwick Genomics. Online self-paced learning is provided for coaching and reflection in genomic analysis and application in scientific and medical contexts. By the end of this course, you will be equipped with the tools, knowledge and insight required for clinical genomic diagnostic processes and an understanding of the management of the results and their implications for families as well as an appreciation of research-based genomic analysis.   

This credential short course is based on real-world cases, and you will have an opportunity to analyse human genomic and variant data in a clinical setting.

Please note that attendance at the 2-day face to face workshop is compulsory, and there will not be any live streaming available.

This short course complements and runs consecutively with the Genetic Counselling short course. Please click here to register for the Genetic Counselling short course. 

 

Presenters

Professor Tony Roscioli | UNSW Medicine & Health

Professor Tony Roscioli is a clinical geneticist at Sydney Children’s Hospital, and a Group Leader in Neurogenomics at NeuRA/Prince of Wales Clinical School, University of New South Wales. His clinical training has been in the fields of paediatric internal medicine and human genetics with an emphasis on dysmorphology. The basis of his research interests in gene identification has stemmed from his clinical training in the field of developmental anomalies/congenital malformations.

Professor Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the overseas component of which was conducted in the leading European Department of Human Genetics at Radboud University Nijmegen Medical Centre, The Netherlands. This fellowship provided valuable training in genomic medicine with a focus on disorders of neuronal migration, intellectual disability (ID), and craniosynostosis/orofacial clefting.

He has worked in translational genomics in Sydney since 2012, being instrumental in guiding two laboratories to clinical accreditation and designing practical genomic consent forms. An important activity has been co-ordinating genomic education for professionals and he has convened 4 successful clinical genomics courses in Sydney and Hong Kong.

More information about Professor Tony Roscioli is here.

Dr Michael Buckley | NSW Health Pathology

Dr Michael Buckley is a Genetic Pathologist with Fellowships in Genetics from the Human Genetics Society of Australia, the Royal College of Pathologists of Australasia, and the Royal College of Pathologists in the United Kingdom. He is the supervising pathologist at NSW Health Pathology Randwick Genomics and held the same position at Genome. One Pty Ltd at the Kinghorn Centre for Clinical Genomics.

Dr. Buckley’s research interest is principally in disease gene identification in paediatric congenital anomalies; with major publications concerning the identification of SP110 as the cause of a form of severe combined immunodeficiency, SCL29A3 in pigmented hypertrichosis with insulin-dependent diabetes mellitus, and translational genomics.

Between 2008 and 2011 he was the recipient of a Marie Curie International Incoming Fellowship for a project directed at the implementation of massively parallel sequencing for disease gene identification in diagnostics and research, a project which is ongoing with the development of a Centre for Medical Genomics within the NSW Health Pathology Randwick genetics laboratories. Current research funding includes support for the Centre of Research Excellence for Neurocognitive Disorders.

Who is this course suited to?

This short course has been designed for clinicians, scientists, allied health professionals, nurses, and health professionals working in a clinical setting – including, medical specialists and trainees, clinical genetics trainees, scientists, medical and health science students, genetic counsellors and researchers. People working in genomics and interested in gaining knowledge, understanding and tools for applying the clinical genomic diagnostic process.

Face to face workshop 

  • 2-day face to face workshop: 5 & 6 August 2024 | 9:00 AM - 5:00 PM AEST
  • Room name: Ground floor room 16 (G16) 
  • Wallace Wurth Building (K-C27), UNSW Kensington Campus 

Scan the QR code below for directions to the 2-day face to face workshop on 5 & 6 August 2024.

Please note that attendance at the 2-day face to face workshop is compulsory, and there will not be any live streaming available.

This short course complements and runs consecutively with the Genetic Counselling short course.

Click here to enrol in the Genetic Counselling short course following this course. The 1-day face to face workshop with live streaming via zoom for genetic counselling is on 7 August 2024.

 

What are the course learning outcomes?

By the end of this course, you will be able to:

  • Identify and describe the genomic variants and interpret their pathogenicity.
  • Understand international criteria for variant interpretation.
  • Describe the different types of genomic files.
  • Apply genomic analysis in Mendelian disorders and clinical diagnostic reporting.
  • Discuss the implications for families undertaking genomic testing in different settings (for example acute care, prenatal genomic testing, incidental findings, VUS).
  • Gain understanding of how to identify a novel disease gene.

What core topics are offered?

For lifelong learning, the following topics are offered in this short course to develop and increase your knowledge, understanding and skills in genomic analysis, variant interpretation, and clinical reporting:

  • Genome and gene structure
  • Benign and pathogenic variation
  • Analysis and classification of variants (missense, nonsense, frameshift, splicing)
  • Analysis of Copy Number Variation from genomic data
  • Genomic filtering and bioinformatic pipeline analysis
  • Germline versus somatic mutation 

What are the course credentials?

   

This course is worth 1.5 UNSW Medicine & Health Executive Certificate in Health (FMECH) points, which provides formal recognition of professional development and reflects 15 hours of learning inclusive of pre-work, course participation, learning materials and support.

Upon successful course completion, you will be issued with a UNSW Medicine & Health verifiable credential. The credential is valid for 3 years and can be counted towards your continuing professional development (CPD). Please check with your college as the credential provides documentary evidence which substantiate activities claimed under your college program.

Can I use my credit towards further study?

You can partake in another short course with FMECH points to achieve a total 150 hours of learning. Once you have achieved a total of 15 points, reflecting 150 hours of learning, you can use the 15 points to apply for recognition of prior learning for 6 units of credit (UOC) towards a postgraduate program within UNSW Medicine & Health. It is essential to complete and submit the course assessment on or before the final day of the course if you wish to apply to use the points towards CPD and/or credit for a UNSW postgraduate program in the future.

 

Inclusions

Price is inclusive of 15 hours of learning, digital badging, online credential learning resources, evidence-based research, practical tools and techniques, support, and course completion assessment. 

Discounts

15% discount for UNSW Alumni and  UNSW Network, Affiliates, Staff, Students, Adjuncts, and Partners.

Additional discount available for UNSW Medicine & Health Short Course partners! To collect your additional discount, please insert "Partnership Discount" in the email subject and send to the Short Course Team.

Basic technology requirements

All our short courses are available in Canvas. To complete this short course, you will need access to a desktop computer, laptop or device with sufficient internet access and a web browser compatible with Canvas and Zoom.

Other short courses

You may also like to join these UNSW Medicine & Health short courses for attaining 6 UOC:

Further information

Thank you for considering UNSW Medicine & Health Short Courses. Reach us for further information about this short course. Or drop us a line if you would like to receive future short courses for early bird discounts.

We continuously improve our short courses to reflect the needs of our learners and their employers. If you are interested in connecting with us to explore bespoke programs for your organisation or team, please contact us.