Counseling Flashcards
What are medical genetics?
The study of the genetics of human disease
What are clinical genetics?
The direct clinical care of people with genetic diseases- Diagnosis, counseling and management of issues related to genetic conditions.
What is genetic screening?
Application of a test for the systemic early detection or exclusion of hereditary disease, or to determine whether a person carries a predisposition that may produce a hereditary disease in their offspring
What is neonatal screening?
Screening for congenital conditions that cause serious, life-threatening symptoms and requires intervention within the first days or year of life.
What are some routine tests that California does?
California does 63 routine tests and it varies by state. Phenyletonuria, congenital adrenal hyperplasia, cystic fibrosis, thalassemia, SSA
What is genetic testing?
A medical test that identifies changes in chromosomes, genes, or proteins. Results can confirm or rule out a suspected genetic condition or help detemine a person’s chance of developing or passing on a genetic. Can be performed as a part of genetic counseling.
What are the 3 steps of genetic counseling?
Risk assessment, education, counseling and psychological support
Genetic counseling: what is risk assesment?
investigating the chance of developing a condition and verifying diagnosis via pedigree analysis / bayesian calculations
Genetic counseling: what is education?
Providing general information regarding the condition
Genetic counseling: what is counseling and psychological support?
Help patients adapt to their condition with specific and targeted support
What is the Genetic Testing Registry used for?
Provides a central location for voluntary submission of genetic test information by providers. Includes the test’s purpose, methodolgy, validity, evidence of the test’s usefulness, and laboratory contact and credentials. Overseen by the NIH
When there is a familial syndrome, goals are
Prevention and early detection
What does prevention involve?
Diet and exercise, Drug therapy and limiting exposure to factors that may precipitate the disease.
What does early detection involve?
Genetic testing, regular screening, or prophylactic surgery
What is a commercial option for testing?
23 and Me, tests for a wide variety of mutations/conditions and they also test for ancestry
