Genetics: Counseling, Risk Assessment, And Ethical Issues

Front 1

What is clinical genetics?

Back 1

diagnosis and management of hereditary disease

Front 2

Genetic counselling and risk assessment is essential for ____

Back 2

making a correct diagnosis and providing appropriate treatment

Front 3

What is the unique aspect of genetic counseling?

Back 3

focus on family, present and future, along WITH the patient

Front 4

What is the purpose of genetic counseling?

Back 4

to provide info and support to families at risk for having or already have, members with birth defects or genetic disorders

Front 5

What are things that genetic counseling helps the person/family deal with?

Back 5

- comprehend medical facts
- understanding how heredity contributes to the disorder
- understand options for dealing with recurrence
- identify values, beliefs, goals, and relationships affected
- choose the course of action that is appropriate
- make the best possible adjustments

Front 6

One thing genetic counselors help families with is helping parents cope with feelings of ___

Back 6

guilt/ responsibility

Front 7

What are common indicators for genetic counseling?

Back 7

1. previous child with congenital anomalies, MR, or birth defect
2. family hx of condition
3. prenatal diagnosis for advanced maternal age
4. consanguinity
5. teratogen exposure
6. repeated loss or infertility
7. newly dix abnormalities
8. before undertaking testing or after getting testing results (ultrasound etc)
9. follow-up for positive results

Front 8

In genetic counseling, who is the "consultand"?

Back 8

person seeking counseling

Front 9

What does non-directive counseling mean?

Back 9

Patients are not told what decision to make - only given information & support

Front 10

In genetic counseling, standards dictate _____

Back 10

a certain level of care.

Front 11

What is the generic approach to genetic counseling?

Back 11

1. collection of history (family and personal)
2. assessment (physical, labs)
3. couseling on:
a. recurrence risk
b. decision making (to include referrals to specialists)
c. continued clinical assessment
d. psychosocial support

Front 12

Prenatal diagnosis (is/isnot) a universal solution.

Back 12

IS NOT

Front 13

What are ways to deal and manage risk of recurrence?

Back 13

1. prenatal diagnosis
2. genetic lab tests
3. contraception/ sterilization
4. adoption
5. artificial insemination
6. DNA analysis of pre-implantation embryos
7. pregnancy termination

Front 14

What is important to remember about the psychological aspects of genetic counseling?

Back 14

patients and families are subject to emotional and social stress PLUS may have a sense of guilt

Front 15

The need to make reproductive decisions can cause ___

Back 15

severe stress

Front 16

Genetic counseling was initially done by ____ but now requires a ____

Back 16

1. formerly done by physician
2. now requires genetics counseling specialist

Front 17

____ are trained, qualified professionals who provide genetic advisement.

Back 17

Genetic counselors

Front 18

____ are members of the health care team that assist with genetic counseling.

Back 18

Nurse geneticists

Front 19

What makes genetic counseling a self-regulating field?

Back 19

It has its own regulatory board and accreditation/ certification programs

Front 20

What is a significant challenge to ethics in medical genetics?

Back 20

to make sure that the advances in human genetic knowledge and technology is used responsibly, fairly, and humanely

Front 21

What are the four cardinal principles in medical ethics?

Back 21

1. respect for autonomy
2. beneficience
3. avoidance of maleficence
4. justice

Front 22

When is prenatal genetic testing found to be most controversial?

Back 22

When it leads to termination for non-fatal disease

Front 23

What is the HGP

Back 23

Human Genome Project

Front 24

What is a major ethical dilemma surrounding prenatal genetic testing?

Back 24

to balance respect for parents' reproductive decision making with an assessment of the fetus having a disability compatible with life

Front 25

A profound ethical dilemma emerging surrounding prenatal genetic tsting involves couples asking for prenatal diagnosis of _____ or ____ . Some believe that it should only be used for what?

Back 25

1. mild cosmetic disorders
2. sex of offspring
3. sex-selection should only be used to reduce sex-lined diseases

Front 26

Testing for disease predisposition often tests who?

Back 26

asymptomatic adults for late-onset disorders

Front 27

What are the two extremes of disease predisposition testing?

Back 27

- testing for highly penetrant disorders like huntington's
- testing indicates predispositon without any certainty of disease development (breast CA)

Front 28

What risks do individuals incur when testing for predisposition?

Back 28

psychological stress, stigmatization, and discrimination

Front 29

When is testing for predisposition in children most beneficial?

Back 29

When early interventions are available.

Front 30

Some argue that even when no treatment is available, predisposition testing in children should be done because ___

Back 30

it is the parents' duty to inform and prepare the child

Front 31

When testing children for predisposition, children's autonomy and ability to make decisions must be balanced with what?

Back 31

desires of the parents.

Front 32

With regards to genetic testing of asymptomatic children, what take to geneticists typically agree on?

Back 32

Unless there is a clear benefit to the care of the child, testing for adult-onset disorders should only be done when the child is old enough and mature enough to make the decision

Front 33

______ has the right to decide when and how medical information is used.

Back 33

The patient

Front 34

Case law ______ some legislative and regulatory mandates such as HIPAA, and courts say: what?

Back 34

contradicts.

There is no difference between a genetic threat and menace of infection or threat of physical harm - you have a duty to protect the family.

Front 35

What is a major exception to the HIPAA regulation?

Back 35

disclosure is permitted for national priority reasons (threat to community or even person)

Front 36

Why do some people argue that medical information should be available to insurance companies and employers?

Back 36

Small businesses that fund their own health care plans should have access.

Front 37

_____ is the suggestion that an individual with private knowledge of higher risk buys extra life, or long-term disability insurance.

Back 37

Adverse selection

Front 38

_____ offers protection, stating genetic susceptibility without current diagnosis of illness, cannot be considered a pre-existing condition.

Back 38

HIPAA

Front 39

HIPAA protects ____% of americans on group health plans or medicare/medicaid.

Back 39

70%

Front 40

___ is the improvement of a population by selection of only its "best" specimens for breeding.

Back 40

Eugenics

Front 41

Who proposed using genetics to improve human species?

Back 41

Francis Galton

Front 42

How were ideal qualities defined for eugenics movement?

Back 42

social, ethnic, and economic prejudices fed by anti-immigrant and racist sentiments

Front 43

Eugenics is commonly used in ___

Back 43

plants and animals, especially dairy cattle, etc.

Front 44

What two factors was human eugenics movement designed to get rid of?

Back 44

lack of education (familial 'feeblemindedness')
rural poverty (hereditary "shiftlessness")

Front 45

After the Nazi regime ended, __________ was still carried out in North America and is considered ____

Back 45

1. sterilization of institutionalized persons.....
2. eugenics

Front 46

Genetic counseling should not be confused with the eugenic goal of ___. It is aimed at ___

Back 46

1. reducing incidence or frequency
2. helping patients and families manage pain and suffering of genetic disease

Front 47

What is dysgenics?

Back 47

deterioration in the health and well-being of a population by practices that allow accumulation of deleterious alleles.

Front 48

The concept of dysgenics suggests what?

Back 48

Genetic errors will continue to increase because treatment of those diseases cancels out natural selection that would get rid of them

Front 49

Treatment of single gene defects has a ____ efect by reducing ___

Back 49

1. dysgenic
2. reducing selection against a genotype

Front 50

How would prenatal diagnosis alter genetic problems as it becomes more widespread?

Back 50

- effects would be variable (huntington would decrease, other disease may see reduction, or recurrence due to new mutations)
- autosomal recessive disorders may not be affected at all

Front 51

What is reproductive compensation?

Back 51

when pregnancy termination is followed by birth of additional, unaffected children, many of whom could be carriers of the deleterious gene.