Genetic Education: Counseling, Testing, and Results Interpretation

Question 1

Purpose of genetic testing

Answer 1

-Diagnose disease
-Identify gene changes responsible for disease or risk of inheritance
-Determine severity of disease
-Guide HCP on best course of action to manage

Question 2

Types of testing

Answer 2

-Predictive
-Carrier
-Diagnostic
-Preimplantation
-Prenatal
-Newborn screening

Question 3

Predictive testing

Answer 3

-Done prior to s/s
-Fhx of genetic disorder
-Types: presymptomatic (eg huntignton’s), predispositional (eg BRCA gene mutating testing)

Question 4

Carrier testing

Answer 4

-Usually performed on child who has recessive condition to determine if both parents are carriers
-Fhx of recessive carriers
-Certain ethnic groups w/ increased risk of genetic conditions (eg SCA, tay sach’s)

Question 5

Diagnostic testing

Answer 5

-Confirms diagnosis of specific genetic or chromosomal condition
-Can be performed anytime during person’s lifetime

Question 6

Timing of genetic testing

Answer 6

-Preimplantation genetic testing (after egg and sperm join, before embryo implants into uterus)
-Prenatal genetic testing (before birth)
-Newborn genetic screening (after birth)
-Diagnostic and carrier testing (adulthood)

Question 7

Prenatal testing

Answer 7

-Routine and specialized tests aimed at monitoring fetal development, evaluating maternal health, assessing risk of potential complications

Question 8

1st trimester tests

Answer 8

-Routine: pregnancy, blood, urine tests, dating ultrasound
-Non-routine: cell-free DNA test, chorionic villus sampling

Question 9

2nd trimester tests

Answer 9

-Routine: urine test, fetal HR monitoring, glucose challenge screening, quad screen, anomaly ultrasound
-Non-routine: amniocentesis, glucose tolerance test

Question 10

3rd trimester tests

Answer 10

-Routine: urine test, fetal HR monitoring, group B strep test, baby kick count
-Non-routine: ultrasound, non-stress test, biophysical profile, contraction stress test

Question 11

Newborn screening

Answer 11

-Identifies condition to determine long-term survival
-Can prevent death or disability
-Uses few drops of blood from heel
-Testing for hearing loss and congenital heart defects before hospital discharge
-NJ screens for 63 conditions

Question 12

Considerations

Answer 12

-No test is 100% accurate
-Tests reveal variants but not necessarily presence of disease
-May reveal variants of uncertain significance and benign variants