By Heather Skirton

ISBN-10: 0203307976

ISBN-13: 9780203307977

ISBN-10: 1859962742

ISBN-13: 9781859962749

Creation to genetic healthcare -- Foundations in genetic technological know-how -- operating virtually in genetic healthcare -- operating professionally in genetic healthcare -- operating to help households -- operating as an educator for households and pros -- operating as a researcher -- Autosomal-dominant inheritance -- Autosomal recessive inheritance -- X-linked inheritance -- Familial melanoma -- Chromosomal and non-traditional styles of inheritance -- Multifactorial inheritance and customary ailments

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Extra info for Applied genetics in healthcare: a handbook for specialist practitioners

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For example, the genetic service may run a clinic for families with von Hippel Lindau disease to organize screening for abnormalities of the brain, eyes, kidneys and liver. The treatment of the condition is still, however, usually carried out by the relevant specialist. In some highly specialized centers, the genetic healthcare practitioner may be involved in research trials of gene therapy and/or pharmacogenomics. 9 Maintaining clinical registers/registries The term register (or registry) is used in genetic healthcare in a number of different contexts.

CASE STUDY—MARVIN Working practically in genetic healthcare 43 Marvin’s father, Lee, has neurofibromatosis (NF). Lee is concerned about his son, and asks the geneticist to examine him for signs of NF. Marvin has no café au lait patches or any other sign of NF. Marvin is now 5 years old. According to a recent publication, the geneticist is aware that 95% of children with NF will have café au lait patches by the age of 5 years. ) 1/20 1 Joint probability ½×1/20=1/40 ½×1=½ Express using same denominator in each column 1/40 20/40 Odds ratio (odds that Marvin inherited NF) 1:20 Risk expressed as a fraction or percentage (chance that Marvin has inherited NF) 1/21=<5% The Hardy-Weinberg equation The Hardy-Weinberg equation derives from population genetics and is used to calculate the chance of a member of the general population carrying a particular autosomal recessive condition.

She attended the genetics clinic alone because her husband Jim was serving in the armed forces and was away on duty. Natalie told the genetics nurse that she had a termination of pregnancy before meeting her husband but Applied genetics in healthcare 36 that he was unaware of this. The genetics practitioner recorded this fact in the written notes (with a note about confidentiality), but did not record it on the pedigree as that would be used in subsequent sessions when Jim would be present. Karyotyping was performed on blood samples from Natalie and Jim.

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Applied genetics in healthcare: a handbook for specialist practitioners by Heather Skirton


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