Information Resources to Support Genetic Counselling

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Information Resources to Support Genetic
Counselling

• Matthew Darlison, Senior Research Fellow,
  Clinical and Applied BioinformaticsBernadette
  Modell, Emeritus Professor of Community
  Genetics, WHO-CC DirectorDavid Ingram,
  Professor of Health Informatics, CHIME Director
• UCL Centre for Health Informatics and
  Multiprofessional Education (CHIME) and WHO
  Collaborating Centre for the Community Control
  of Inherited Disorders

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Informed choice in the first pregnancy138 UK
couples at risk for thalassaemia
UK 1995 National Confidential Enquiry into
Genetic Counselling thalassaemia module. R
Harris, B Lane, P Williamson
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Thalassaemia major conceptions in the UK - 1168
outcomes
From Modell, 1998
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Common threads

• Every genetic diagnosis has implications for
• the individual
• their partner and children
• their extended family
• Every person has at least one genetic diagnosis
• Everyone is part of a genetic minority group

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(No Transcript)
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What kinds of information?

• Molecular
• Genotypic
• Proteomic
• Phenotypic
• Cell-omic up to the
• Organism
• Correlated to be predictive (more or less) of
• Current clinical manifestation and course
• Future clinical manifestation and course

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Use Case Haemoglobin S/beta thalassaemia
detected by newborn screening

• Newborn detected with Hb F Hb S trace of Hb A
• Mother to be counselled, either by consultant
  haematologist or specialist counsellor
• Examination of notes shows
• Prenatal diagnosis workup done
• No PND procedure performed
• DNA analysis results are available
• Mother carries haemoglobin S
• Partner carries IVS1-6 TgtC beta thalassaemia
• Child diagnosed with
• haemoglobin S/IVS1-6 TgtC beta thalassaemia
• Mother very anxious Whats going to happen to
  my baby?

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Information landscape for an inherited condition
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APoGI - the Accessible Publishing of Genetic
Information

• First research questions
• What kind of information is needed?
• Can this kind of information be produced? How?
• Can it be made available? How?
• What does it take to sustain it being available
  and useful in the long term?
• Later
• How can this be done in multiple languages and
  media?
• How can this be integrated into other healthcare
  information systems, to make it less expensive?
• How can such a service be commissioned for real
  use?

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A URL a key to a document

• http///APoGI/
• infotext/hb/un/3/2l/0/_/fp/card/en-gb.pdf
• 
  FileFormatAdobe PDF (n6)
• National
  LanguageBritish English (n80)
• Text-SizeCard-sized
  (n3)
• Audiencemother/female
  parent (n3)
• Partner ValueNo partner
  info (n?)
• Partner Diagnostic
  LevelPartner unknown (n5)
• Diagnosis ValueHomozygous Hb
  Lepore (n?)
• Diagnostic LevelDefinite
  diagnosis, complete (n5)
• LifestageNewborn (n5)
• MoleculeHaemoglobin (n15,000)
• Resource TypePatient Information Text (n3)
• 15,00055533806 a bare minimum of
  8,100,000,000 possible information text
  resources for each possible combination of
  laboratory findings in patient and partner.

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The vision for the future