Webbased resources for the Clinical geneticist

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Web-based resources for the Clinical geneticist

• Professor Agnes Bankier
• Director
• Genetic Heath Services Victoria and VCGS Pathology

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Genetic Consultation

• Reduce the burden of genetic disorders - informed
  decisions
• Diagnosis clinical and laboratory
• Information discussion
• Natural history
• Burden
• Recurrence risk
• Treatment options
• Support and Management
• Options for the next pregnancy

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Unknown in 1984

• IUGR
• Postnatal short stature
• microcephaly
• mid face hypoplasia
• prominent eyes
• intellectual disability

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Making a diagnosis

• Medical and family history
• Clinical examination
• Identifying a pattern of associated features
• Inheritance pattern
• POSSUM web, LDDB
• Investigations, eg x-rays, biochemical studies,
  chromosome analysis, gene tests
• Consulting colleagues
• Databases for information retrieval

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Useful Databases for the Clinical Geneticist

• Online Mendelian Inheritance in Man (OMIM)
  http//www.ncbi.nlm.nih.gov/sites/entrez?dbomim
• Medline http//www.nlm.nih.gov/databases/databases
  _medline.html
• Gene Tests, incorporating GeneReviews, Lab
  Directory, Clinical Directory Educational
  Materials http//www.geneclinics.org/

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Useful Databases

• European Cytogeneticists Association Register of
  Unbalanced Chromosome Aberrations
  http//www.ncbi.nlm.nih.gov/
• National Center for Biotechnology Information
  http//www.ncbi.nlm.nih.gov/
• Reprotox, developed by the Reproductive
  Toxicology Center http//www.reprotox.org/
• Better Health Channel (fact sheets for patients)
  http//www.betterhealth.vic.gov.au/

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Acknowledgments

• David Danks, David Pitt, John Rogers
• John Marquet
• Agnes Bankier
• Catherine Rose
• Juan Chemke, Hartmut Menger, Jurgen Spranger,
  David Sillence
• Community of contributors

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1985
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POSSUM Data

• Dysmorphic syndromes
• Multiple malformations
• Skeletal dysplasias
• Chromosomal Syndromes
• Metabolic disorders

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Pitt-Rogers-Danks Syndrome

• Clemens 1996
• 4p16.3 microdeletion,
• t(48)(p16.3p23.1)pat
• Distinct syndrome

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Averaged Faces of Craniofacial Syndromes
Classification Protocol

• Ashraf Shaweesh
• Agnes Bankier
• John Clement

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Questions
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Achondrplasia-O12-av-13 faces
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Williams Syndrome-U12-av-6 faces
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Normal vs. SyndromesMatching values (average
distance) in mm
2.731
13.968
5.148
Over 12 yrs Under 12 yrs
Normal vs. WS Normal vs. Achond Normal vs. SS
3.027
11.243
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WS vs. Achondroplasia vs. SS Matching values
(average distance) in mm
15.109
6.360
11.133
Over 12 yrs Under 12 yrs
WS vs. Achond. WS vs. SS Achond. vs. SS
13.148
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Results
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Future possibilities

• Curb-side consults ASHG ?? POSSUM Forum
  web-based diagnostic consultations
• Mini- POSSUM ? bed-side consults and learning
• Research 3-D digital imaging ? ? Electronic
  matching of faces
• Researchers using POSSUM Web phenotypes to help
  identify human phenotype-equivalent of gene
  knock-out phenotypes
• Researchers interested in accessing individual
  patient files -phenotypes /genotype -from
  confidential files

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Supporting people to make informed decisions
about their healthcare