Information Resources to Support Genetic Counselling

1. 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

2. Informed choice in the first pregnancy:138 UK couples at risk for thalassaemia UK 1995 National Confidential Enquiry into Genetic Counselling: thalassaemia module. R Harris, B Lane, P Williamson

3. Thalassaemia major conceptions in the UK - 1168 outcomes From Modell, 1998

4. 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

6. 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

7. 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 T>C beta thalassaemia • Child diagnosed with • haemoglobin S/IVS1-6 T>C beta thalassaemia • Mother very anxious: “What’s going to happen to my baby?”

8. Information landscape for an inherited condition

9. 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?

10. A URL – a key to a document http:///APoGI/ infotext/hb/un/3/2l/0/_/fp/card/en-gb.pdf ^ ^ ^ ^ ^ ^ ^ ^ ^ ^ ^ | | | | | | | | | |FileFormat=Adobe PDF (n=~6+) | | | | | | | | |National Language=British English (n=~80+) | | | | | | | |Text-Size=Card-sized (n=~3+) | | | | | | |Audience=mother/female parent (n=~3+) | | | | | |Partner Value=No partner info (n=~?) | | | | |Partner Diagnostic Level=Partner unknown (n=~5) | | | |Diagnosis Value=Homozygous Hb Lepore (n=~?) | | |Diagnostic Level=Definite diagnosis, complete (n=~5) | |Lifestage=Newborn (n=~5+) | Molecule=Haemoglobin (n=~15,000+) Resource Type=Patient Information Text (n=~3) 15,000*5*5*5*3*3*80*6 = a bare minimum of ~8,100,000,000 possible information text resources for each possible combination of laboratory findings in patient and partner.

11. The vision for the future: