© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts. You may use these slides and their contents for non-commercial educational purposes. Reasons to refer to CGS Definition of genetic counselling Aims of Genetic Counselling. The Role of the Clinical Genetics Service

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Why are people referred? Child: –Birth anomalies –Dysmorphic features –Learning difficulties. Adult: –Diagnosis –Predictive testing –Carrier testing –Family history (including cancer) –Fetal loss or recurrent miscarriages. Pregnancy: –Known genetic disorder –Abnormality detected on screening.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare What is genetic counselling? An education process that seeks to assist affected (and/or at risk) individuals to understand the nature of the genetic disorder, the nature of its transmission and the options open to them in management and family planning.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Reasons for Clinical Genetics Referral Affected child/adult for investigation or diagnosis Family history of genetic disorder or condition with genetic component Fetal loss/abnormality Recurrent miscarriages Strong family history of cancer Prenatal testing Carrier testing Predictive testing Diagnostic Testing Information

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Give information: Aims of genetic counselling What is the condition? Inform people of the medical facts Talk about treatment and prognosis Explain inheritance Discuss chance of happening again.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Talk about choices: Whether to have genetic tests Whether to have more children Whether to have tests during pregnancy.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Offer support to all the family Offer clinic appointment to other family members Offer genetic tests to those at risk.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Genetic testing of Children Beneficial if: –Confirming a suspected diagnosis –Removing need for invasive procedures. Problematic if: –Carrier testing a healthy child –Predictive testing for adult-onset condition.

© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Making a genetic diagnosis Family tree –to detect a pattern of inheritance Physical examination –to give precise diagnosis Genetic tests –Chromosomes (karyotype) –Genes (DNA testing).