Genetic Counseling

Question 1

Components of a genetic consult: information gathering

Answer 1

Obtain family history (pedigree)

Obtain medical history of patient and family members

Question 2

Components of genetic consult: establish/verify clinical diagnosis

Answer 2

Must obtain diagnosis from M.D.: genetic counselors cannot make diagnoses

Question 3

Components of genetic consult: risk assessment

Answer 3

Determine who else in family is at risk for disease: look at known patterns of inheritance and adjust with mathematical calculations

Question 4

Components of genetic consult: information giving

Answer 4

How was diagnosis/ recurrence risk derived
Information about condition: symptoms, prognosis, management/intervention options
Reproductive options
Support resources

Question 5

Components of genetic consult: psychosocial counseling

Answer 5

Determine direct impact for patient
Assessment of patient’s support network
Discuss impact of information on relationships with family and friends

Question 6

Prenatal genetic counseling setting

Answer 6

Carrier testing based upon ethnic background/family history

Determine odds of child having disease

Question 7

Pediatric genetic counseling setting

Answer 7

Help families and affected child understand and cope with diagnosis
Discuss risks for future children and other family members

Question 8

Adult onset disorders genetic counseling setting

Answer 8

Determine who will be affected by autosomal dominant, adult-onset disorders like Huntington disease
Assess pedigrees to differentiate Mendelian from complex forms of common diseases like breast cancer

Question 9

Familial cancer clinic genetic counseling setting

Answer 9

Evaluate family histories of cancer and determine most appropriate genetic testing options
Cancer screening/prevention options

Question 10

Clinical laboratory genetic counseling setting

Answer 10

Evaluate pedigrees and make recommendations to ordering physicians about most appropriate testing options
Interpret variants/analyze genome

Question 11

Research laboratory genetic counseling setting

Answer 11

Coordinate ascertainment of families for research

Writing grants and manuscripts

Question 12

Public health department genetic counseling setting

Answer 12

Coordinate newborn screening programs, such as screening for PKU

Question 13

Issues surrounding genetic counseling: informed consent

Answer 13

Normally, must obtain informed consent from patient before genetic counseling can be done (protect patient’s autonomy)
People can be coerced into testing by family members, etc. when they don’t want to be tested: are they truly consenting of their own will?
Minors can’t truly make informed consent: parents decide for them

Question 14

Issues surrounding genetic counseling: confidentiality

Answer 14

Normally, information found is kept confidential
Professional must decide whether or not to share confidential information with other people who might be affected
Ex- patient doesn’t want to warn family members who could also be affected by about high-risk diagnosis that is preventable

Question 15

Issues surrounding genetic counseling; withholding information

Answer 15

Professional must decide whether or not to share discovered information with patient
Ex- unanticipated information (non-paternity)

Question 16

Issues surrounding genetic counseling: value conflicts

Answer 16

Difference in values between professionals and patient, society, or other professionals
Ex- couple wants to terminate pregnancy if child is undesired gender

Question 17

Issues surrounding genetic counseling: directiveness

Answer 17

Normally, patient should decide what to do with information

In some cases, patient would clearly benefit from a particular course of action: should persuade or not persuade?

Question 18

Issues surrounding genetic counseling: discrimination

Answer 18

Unfair treatment by insurance company or employer based on results of genetic test
Ex- loss of health insurance or job if patient has disease

Question 19

Issues surrounding genetic counseling: diversity

Answer 19

Ethnicity, religion, socioeconomic status, language, etc. present barrier
Ex- different perceptions of disease based on culture, role of family making decisions (vs total autonomy, an American value)