Counseling

Question 1

What are medical genetics?

Answer 1

The study of the genetics of human disease

Question 2

What are clinical genetics?

Answer 2

The direct clinical care of people with genetic diseases- Diagnosis, counseling and management of issues related to genetic conditions.

Question 3

What is genetic screening?

Answer 3

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

Question 4

What is neonatal screening?

Answer 4

Screening for congenital conditions that cause serious, life-threatening symptoms and requires intervention within the first days or year of life.

Question 5

What are some routine tests that California does?

Answer 5

California does 63 routine tests and it varies by state. Phenyletonuria, congenital adrenal hyperplasia, cystic fibrosis, thalassemia, SSA

Question 6

What is genetic testing?

Answer 6

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.

Question 7

What are the 3 steps of genetic counseling?

Answer 7

Risk assessment, education, counseling and psychological support

Question 8

Genetic counseling: what is risk assesment?

Answer 8

investigating the chance of developing a condition and verifying diagnosis via pedigree analysis / bayesian calculations

Question 9

Genetic counseling: what is education?

Answer 9

Providing general information regarding the condition

Question 10

Genetic counseling: what is counseling and psychological support?

Answer 10

Help patients adapt to their condition with specific and targeted support

Question 11

What is the Genetic Testing Registry used for?

Answer 11

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

Question 12

When there is a familial syndrome, goals are

Answer 12

Prevention and early detection

Question 13

What does prevention involve?

Answer 13

Diet and exercise, Drug therapy and limiting exposure to factors that may precipitate the disease.

Question 14

What does early detection involve?

Answer 14

Genetic testing, regular screening, or prophylactic surgery

Question 15

What is a commercial option for testing?

Answer 15

23 and Me, tests for a wide variety of mutations/conditions and they also test for ancestry