Collection of data in Australasia

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Collection of data in Australasia

• David Thorburn
• Mitochondrial Metabolic Research, MCRI
• President, Human Genetics Society of Australasia

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• 900 members State NZ Branches SIGs
• Clinical Geneticists
• Genetic Counsellors
• Biochemical Genetics
• Cytogenetics
• Molecular Genetics
• Cancer Genetics

Training, MOPS Training, MOPS, lab QA
programmes
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• Access to complete robust LSDBs to assess the
  significance of genetic variants
• What practical steps can a society like HGSA take
  to advance this cause?
• national database(s)?
• encourage provision of phenotypic data
• encourage deposition of sequence variants
• assist development of incentives

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DIAGNOSIS OF GENETIC DISORDERSIN AUSTRALASIA
15/6/2007

• 58 labs
• 300 genes tested

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Quality and safety of genetic testing in
Australia and New Zealand a review of the
current regulatory framework Imogen L Goold, Amy
Pearn, Silvana Bettiol and Angela Ballantyne
Published 08 November 2006 http//www.anzhealthpo
licy.com/content/3/1/13
15189
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• Perhaps the major contribution HGSA could make is
  regarding collection of phenotypic data and
  deposition of genetic variants as expected
  routine standards of practice
• Impediments (time, resources, privacy, etc)
• Incentives
• NPAAC guidelines for genetic testing
• QA MOPS programs
• Requires enthusiasm from Molecular Genetics SIG,
  approval by HGSA Council and a united front with
  RCPA, HGAC