【正文】 the condition herself in the future. You ask Jane how her mother feels about this issue, and Jane tells you that her mother has declined geic testing. If Jane is tested and shown to have an expansion which causes HD, you will also have clarified that her mother will develop HD. Jane should not be offered geic testing without first testing her mother. Strongly agree Agree Neutral Disagree Strongly disagree Supporting Geics Education for Health Huntington Disease ? National protocol for presymptomatic testing – blood test on minimum of session three, results at session four ? We see atrisk family members, along with affected patients with a new diagnosis ? Support from other sources: – HDA – Dr Vianithranian Consultant neurologists in Derby – Helen James, HDA Family liaison worker Supporting Geics Education for Health Mr P has been diagnosed with long QT syndrome (a heart condition which can result in sudden death). This is a dominant condition, so his 4 children (aged from 1019 years) are all at 50% risk. Testing is advised in childhood, as there are health and screening implications for affected family members. Mr P tells you in confidence that one of his children is adopted (and therefore not at geic risk) but does not know this. How might we proceed? Supporting Geics Education for Health A similar situation… Cystic fibrosis A couple have a newborn child who is diagnosed with cystic fibrosis. As a routine next step, we counsel them about having carrier testing to confirm their carrier statuses, as this allows testing in future pregnancies and allows carrier testing for the wider family. The wife calls after the clinic to confess that she is uncertain whether her husband is the father of her baby, and does not want us to test him, for fear of disclosure. Supporting Geics Education for Health Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder affecting approximately 1 in 3000 male births. Boys with DMD are usually diagnosed between 45 years of age. In about two thirds of cases, the boy’s mother is a carrier for the condition, and at risk of having another affected boy. There is no cure for DMD. Neonatal screening of all male births should be performed to identify affected boys so that their mothers can be tested to see if they are a carrier and therefore at risk of having further affected children. Consider the statement above and indicate the extent to which you agree or disagree with it. Strongly agree Agree Neutral Disagree Strongly disagree Supporting Geics Education for Health A consanguineous couple attend the geics clinic as they have a 7 year old son affected by Duchenne Muscular Dystrophy (DMD). Mum had geic testing and is not a DMD carrier. The risk to future children is around 5% (due to the risk of gonadal mosaicism). They are now pregnant again and request prenatal testing. Fetal sexing was first offered and shows the baby to be female. Female carriers of DMD are healthy, and do not have muscle problems. This couple still request a CVS (with an associated 1% risk of miscarriage) to determine if the baby is a carrier. They say they will end the pregnancy if this child is a carrier. What should you do? Test Uncertain Not test Supporting Geics Education for Health Erica, 35 Eve, BRCA1 No knowledge Strong family history of breast / ovarian cancer (BRCA1) Supporting Geics Education for Health Erica is 35 and registers as a new patient at her GP surgery. When registering, Erica is asked if she has any family history of concern, and states that she does not. Erica39。s paternal aunt Eve is also registered with the GP practice, but the two branches of the family have no contact. The GP recognises their unusual surname and remembers speaking with Eve about her strong family history of breast cancer. Upon checking his records, the GP realises that Erica will be at risk of carrying the BRCA1 geic change in the family. The GP has an obligation to tell Erica, his new patient, information which he knows may affect her health and access to screening in the future. Strongly agree Agree Neutral Disagree Strongly disagree Consider the statement above and indicate the extent to which you agree or disagree with it. Supporting Geics Education for Health Thanks for your time! MarieAnne O’Reilly Geic Counsellor Nottingham Regional Clinical Geics Service, Nottingham City Hospital Telephone: 0115 9627728 Email: ’