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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
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
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
Diagnosis
•Clinical geneticists are specifically trained to recognise genetic disease through
▫Pedigree analysis▫Phenotypic and pattern recognition▫Individual patient research
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
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
The process
•Taking the family tree•Collecting the medical history in detail•Examination of the affected or at risk
individual if appropriate
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
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
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
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
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
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
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
Pharmacogenetic
•Currently clinical genetic departments are rarely involved, however this may change as more sub typing of disease and individuals becomes possible
Genotype diagnosisPredicting 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