Genetic Counselling is the Process by Which Patients or Relatives

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Genetic counselling  is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting transmitting it, and the options open to them in management and family planning in planning in order to prevent, avoid or ameliorate it. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects.

A genetic counsellor  is a medical genetics expert expert with a aster of !cience degree. "enetic counsellors provide information and support to families who have members with birth defects or defects or genetic disorders, disorders, and to families who may be at risk for a variety of inherited conditions. "enetic counsellors are present at high risk or specialty prenatal clinics that o#er prenatal diagnosis, diagnosis, paediatric care centres, and adult genetic centres. "enetic counselling can occur before conception (i.e. when one or two of the parents are carriers of a certain trait) through to adulthood (for adult onset genetic conditions such as $untington%s disease or disease  or hereditary cancer cancer syndromes).  syndromes). Any person who may have a genetic condition, has a family history of an inherited disease, or has other risk factors for a genetic condition or birth defect may bene&t from seeing a genetic counsellor. 'f a person%s family history indicates the possibility of an inherited disease, their doctor may give them a referral. !ome pregnant women may also be referred to genetic counsellors to receive counselling about the risks of birth defects or for help in interpreting test results. arts of a genetic consultation *. 'ntake 'ntake (information (information gathering) + past genetic &les, &les, patient patient agenda (their knowledge and questions) . "enetic testing testing + pre-symptomatic pre-symptomatic diagnosis diagnosis e.g. e.g. predictive, predictive, newborn and carrier testing . /iagnosis + detailed family pedigree, pedigree, examination, examination, identify identify pattern pattern of of associated features 0 investigation 1. 'nformation 'nformation + build on patients previous previous knowledge, description of the condition and inheritance pattern of it 2. 3isk assessment assessment + from from pedigree pedigree analysis analysis 0 test test results, results, convey convey to the patient the risk and assess their perception of it 4. 'nformed 'nformed decision making + information, information, options, personal beliefs and values, decisions free from coercion and support the patients decision 5. 6ollow-up 6ollow-up + summary summary letter letter to the the family and referring referring doctor, arrange review appointment for further information and management. 'ssues during decision making 7 emotional state of patient and their perceived burden burden e.g. &nancial, quality of life, consideration of family members

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3eference 7 lectures on genetic counselling and first need to download it. http88www.genetichealth.com83esources9:hat9's9"enetic9;ounseling.shtml Cancel

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