2700 genetics

essentials of genetic and genomic nursing
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Terms in this set (37)
Obtain a three-generation family history

Start with the pt's history, than gather info on 1st/2nd/3rd degree relatives.

Collect: name, dob, health status, including medical conditions/age at diagnosis, if a family member is deceased, age and cause of death, racial and ethnic ancestry of maternal and paternal grandparents.
mono genic disordersingle gene disorder ex huntingtons diseaseMulti factoral disorderenvironment and genetic factors ex hypertension and cardio vascular diseasegenetic red flagsknown genetic disorder in family multiple generations affected maternal and paternal early onset of disease in first or second degree relative sudden cardiac death of individual considered healthy ethnic predisposition to certain genetic disorderssignificant influence on distribution of genetic disorderethnicity and raceList the categories of red flags that when identified during a family history, should prompt referral to a genetic specialist:Genetic disorder in family Family history of disorder Multiple generations affected, maternal and paternal Early onset of disease in 1st and 2nd degree generation Sudden cardiac death in considered healthy adult Ethnic predispositionwhat is the most common genetic testing and required in all 50 statesNewborn screeningWhat information should a nurse provide to patients and families so they can make informed decisions and decrease their anxiety regarding referral to a genetic specialist?Provide information about the reasons for testing Types of tests Benefits RisksList the benefits of genetic testing:Providing a definitive diagnosis Offering information related to family risk Identifying prevention, management, and treatment optionsList the risks of genetic testing:Potencial for discrimination Anxiety Psychological impactDescribe potential barriers to genetic technology and services:Culture Language Family values Traditions Religion Health beliefspurpose of diagnostic testing?confirms or rules out a diagnosis. Indicated when symptoms already exist.Carrier testing: purpose?determines whether an individual is a carrier of a recessive or X-linked Mendelian disorderPredictive or presymptomatic testing: purpose?indicates whether a person is very likely to develop a condition such as Huntington's diseasePrenatal or antenatal testing: purpose?looks for genetic and chromosomal disorders such as Down syndromeSusceptibility testing: purpose?determines an individual's genetic risk for an etiologically complex disorder that involves multiple risk factors, such as diabetes, or heart diseasePharmacogenetic testing: purpose??analyzes genetic variations to predict an individual's response to a specific medication or class of medicationHow long might the genetic testing process take?4 weeksDescribe the nurse's role during this process: of genetic testingOffer emotional support Discuss potential strategies for action after resultsDescribe the role of the nurse once genetic testing results are learned:Help clarify information provided by genetic professionals Explore implications for the pt and family Recommend health promotion and prevention Collaborate w healthcare providers for optimal care deliveryWhy should a nurse understand what genetic test results mean?Can help you explain them to pts and their Connect them to resources Provide supportIndicate the significance of positive test results:Show a change in a particular gene, chromosome, or protein of interestMay confirm a diagnosis, but generally can't be used to predict the course of severity of a condition May provide options for prevention and management of the disorderWhat do negative test results mean?No change in the genem, chromosome, or protein Rules out a disorder Don't rule out the presence of a mutation in another gene that could cause the same disorderWhat do variant of unknown significance test results mean?Finding of a variation in the DNA that is not normal, but hasn't yet been associated w a disorder in other people May be difficult to evaluate because everyone has common natural variations in their DNA (polymorphisms) that don't affect healthDefine precision medicine and how is it used:Tailoring medical treatment to each pt individual characteristicsIn what way does precision medicine provide a strategy for disease treatment and prevention?Includes attention to an individual's variability in genes, environment, and lifestyleThe NINR-supported scientists are actively engaged in what efforts?Implementing clinical applications of genomics to accelerate discoveries that allow healthcare providers and researchers to accurately predict what disease treatment and prevention strategies will work in which groups of people.Describe the importance of nurses acquiring genetic and genomic knowledge:Initiating and facilitating referrals to improve pt care and outcomes → Primary care nurses knowledgeable in genetics and genomics will be at the forefront of this new era in medicine.