1. Role of clinical genetics in medicine

2. Who provides this service Varies depending on structure and funding of service but is in reality provided by many different individuals ▫Medical genetic staff ▫Physicians and surgeons with a special interest ▫Nurses with a special interest ▫Obstetricians ▫General practitioners

3. Clinical Genetic Service Cytogenetic laboratory Molecular genetic laboratory Clinical genetics

4. Clinical Genetics Diagnosis of genetic disorders Provide information to individuals and families about the genetic disease affecting their family Clinical surveillance of individuals at risk of genetic disease Coordination of screening of at risk individuals Laboratory liaison Education

5. Clinical genetics Mainly an outpatient speciality Patients seen ▫In clinic ▫At home ▫On the ward

6. Diagnosis May be known prior to the appointment and inheritance of condition in the family known May be made in clinic from history and examination May be unknown but pedigree analysis may help in establishing risks

7. Diagnosis Clinical geneticists are specifically trained to recognise genetic disease through ▫Pedigree analysis ▫Phenotypic and pattern recognition ▫Individual patient research

8. Appropriate investigation Appropriate investigation of complex disorders as a result of phenotypic and pattern recognition of the individual and family Use of medical genetic databases Knowledge on available genetic testing

9. Diagnosis of genetic disease Each genetic disease is rare and genetic practitioners are more likely to recognise a condition because they may have seen it or have read about the condition before Physicians and surgeons with a special interest may also have extensive knowledge of a particular group of genetic conditions

10. The process Taking the family tree Collecting the medical history in detail Examination of the affected or at risk individual if appropriate

11. Surveillance Knowledge of disorder allows appropriate clinical surveillance of individuals at risk of genetic disease Development of guidelines for the management of individuals at risk Coordination of screening of at risk individuals

12. Providing the information Non directive Non judgmental Fully informative

13. Clinical counselling Affective communication with family about the natural history and prognosis of genetic disease Provide risk information for relatives including offspring Prenatal/antenatal counselling Provide support for individuals and families with genetic disease

14. Genetic Counselling An educational process that seeks to assist affected and/or at risk individuals to understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning Kelly 1986

15. Genetic counselling Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the ways in which this may be prevented, avoided or ameliorated

16. Associate/nurse led clinics Tend to be disease specific Provide information about the risks and natural history, including complications Work to frequently reviewed guidelines Provide emotional support for individuals and families with genetic disorders

17. Providing support Support and counsel individuals considering and during genetic testing ▫Diagnostic ▫Predictive ▫prenatal Provide bereavement and post termination counselling Ensuring families receive available services and benefits

18. Clinical Genetics - laboratory Clinical support for cytogenetic and molecular genetic laboratories – including the interpretation of results in the clinical context Liase with other clinicians using genetic laboratory services

19. Pharmacogenetic Currently clinical genetic departments are rarely involved, however this may change as more sub typing of disease and individuals becomes possible

20. Pharmacogenetics Disease susceptibilityFocused screeningEarly Diagnosis Targeted therapy

21. Pharmacogenetics Clinical diagnosis Biochemical diagnosis Genotype diagnosis Somatic or germline

22. Genotype diagnosis Predicting drug response Diabetes ▫HLA, HNF1  and 4 , PPAR, glucokinase ▫e.g. sulphonylurea very affective in HNF1  Asthma ▫IGE receptor, airway remodelling, epithelial barrier (protease) Cancer ▫Imantinib active against tumours with activated KIT mutations (GIST’s), 82% response rate ▫Herceptin for Ca breast with ERBB2 over expression

23. Clinical Genetics Diagnosis of genetic disorders Provide information to individuals and families about the genetic disease affecting their family Clinical surveillance of individuals at risk of genetic disease Coordination of screening of at risk individuals Laboratory liaison Education