Week 2: Genetic Counselling Principles and Practice

Question 1

Analytical Validity

Answer 1

Ability of a test to accurately detect specific characteristics

Question 2

Clinical Validity

Answer 2

Ability of a test to accurately detect clinical status

Question 3

Analytic Accuracy

Answer 3

Agreement of the result with the true value of the analyte

Question 4

Analytic Precision

Answer 4

Reproducibility; agreement between measurements

Question 5

Analytic Sensitivity

Answer 5

The lowest level of the analyze that can be detected

Question 6

Clinical Sensitivity

Answer 6

Frequency of positive results when the disease is present

Question 7

Analytical Specificity

Answer 7

How well the test detects only the analyte in question (VUS reduction)

Question 8

Clinical Specificity

Answer 8

Frequency of a negative test when the disease is not present

Question 9

Clinical Utility

Answer 9

Ability of the test to affect positive outcomes

Question 10

Positive Predictive Value

Answer 10

% of positive results that are true positives

Question 11

Negative Predictive Value

Answer 11

% of negative results that are true negatives

Question 12

When giving risks, always follow up by:

Answer 12

Addressing emotional impact

Question 13

Representative Heuristic

Answer 13

An individual’s interpretation of probability is affected by prototypes or idealized examples

Question 14

Availability Heuristic

Answer 14

An individual’s understanding of probability is influenced by actual or dramatic instances

Question 15

Anchoring Heuristic

Answer 15

An initial value is adjusted to yield a final estimate

Question 16

Newest ‘Definition’ about Nondirectiveness

Answer 16

Promote patient autonomy; provide support; encourage reflection

Question 17

Transference

Answer 17

Patient brings old patterns of expectations to new situations (unconscious)

Question 18

Countertransference

Answer 18

Reaction or response to patient’s story- defences, emotions

Question 19

Patients reactions to bad news

Answer 19

Denial, anger, guilt/shame, grief/despair, questions

Question 20

Patients types of coping styles

Answer 20

Confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, planning, positive reappraisal

Question 21

Patient Psychological Defences

Answer 21

Repression, intellectualization, displacement, sublimation, reaction formation, projection, projective identification, identification, regression, undoing

Question 22

Managing a Crisis: A-C-T

Answer 22

Acknowledge, Communicate, Transition