Practice Exam-Genetic Counseling

Genetic Counseling

Pdf Summary

In the genetic counseling scenarios provided, the primary focus lies on addressing inherited conditions within families and determining the risks and necessary steps for individuals considering these genetic backgrounds.<br /><br />For the first scenario, a 30-year-old woman seeks counsel after a negative presymptomatic test for Huntington's disease (HD), with a significant family history of the disease affecting her father and paternal grandmother. The most crucial step is to recommend confirmatory DNA testing for her father. This step is vital to determine if HD is indeed caused by a familial expansion mutation in the HD gene, thereby validating the negative test result for the woman. This recommendation emphasizes the need for confirming the familial mutation to better assess her risk and to rule out any misinterpretation of the test results due to the lack of prior DNA confirmation in her diagnosed relatives.<br /><br />In the second scenario, a 38-year-old woman visits a prenatal genetics clinic and shares family medical history, including an uncle with sensorineural deafness and other symptoms suggesting a possible genetic condition. The recommended course of action is to seek permission to review the uncle’s medical records for a more detailed diagnosis. Understanding his specific medical condition is essential before determining risk and making genetic testing decisions for her. This emphasizes a thorough investigation of available family medical history to explore possible inherited disorders and to guide the patient’s prenatal genetics planning.<br /><br />Both cases underline the role of genetic counseling in navigating complex family histories and the crucial step of verifying genetic conditions in relatives to inform risk assessments and future healthcare decisions accurately.

Keywords

genetic counseling

inherited conditions

Huntington's disease

confirmatory DNA testing

familial mutation

sensorineural deafness

prenatal genetics

family medical history

risk assessment

genetic testing