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Genetics > Powerpoint Questions = Bioethics and Gene Therapy > Flashcards

Powerpoint Questions = Bioethics and Gene Therapy Flashcards

1
Q

what is genetic counseling

A

it is the process of helping people to understand and adapt to the medical, psychosocial, and familial implications of a genetic condition

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2
Q

what does genetic counseling include (3 things)

A
  1. interpretation of the family history to assess for chances of the genetic disease occurrence and reoccurrence
  2. education about inheritance, management, testing
  3. consoling to promote informed decisions
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3
Q

what is medical genetics versus clinical genetics?

A

medical genetics is the study of genetics in human disease

clinical genetics is direct clinical care of someone with a clinical condition

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4
Q

what is the study of abnormal physical development

A

dyrsmorphology

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5
Q

what is Nondirectiveness

A

all the decisions about the future are left up to the family

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6
Q

what is autonomy

A

Respecting a person’s right to self determination and

providing the conditions necessary for autonomous choice

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7
Q

what is beneficence

A

actions done for the benefits of others

trying to help another

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8
Q

what is non-maleficence

A

you are not to inflict harm

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9
Q

what is justice

A

Burdens and benefits must be distributed equally among all groups. Requires that procedures
uphold the spirit of existing laws and fair to players involved.

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10
Q

what are some concepts in genetic consouling?

A 
-Medical diagnosis and management; Family History
• Determining risk of recurrence
• Options for addressing the risk
• Reproductive decision making
• Psychosocial support services
• Patient and family education
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11
Q

why do you suggest a genetic counseling referral to a patient

A

-Evaluation of a person with cognitive disability or developmental delay
-Evaluation of a person with single or multiple malformations, question of a dysmorphic
syndrome
-Evaluation of a person with a possible inherited metabolic disease
-Presence of a possible single-gene disorder
-Presence of a chromosomal disorder, including balanced rearrangements
-Person at risk for a genetic condition, including questions of pre-symptomatic diagnosis or
cancer risk
-Couples with a history of recurrent miscarriages
-Consanguinity in a couple, usually first cousin or closer
-Teratogen counseling
-Preconception counseling and risk-factor counseling, including advanced maternal age and
other potential indications for prenatal diagnosis

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12
Q

what do standard clinical genetic evaluations include?

A 
routine history (MH/FH), physical exam, family 
member evaluations, and ancillary dx tests.
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13
Q

how do you talk parents with a newborn with genetics conditions

A

Prepare well: “Congratulations!”
• Talk to both parents together when possible
• Communicate dx or critical update as soon
as possible
• Choose a quiet place to ensure privacy
• Humanize the situation as much as possible
• Address challenges honestly and with a
positive attitude
• Answer questions; Active listening
• Additional referrals as needed

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14
Q

what is an example dysmorphology

A 
• When evaluating a child with a 
congenital malformation, must 
differentiate isolated defect 
from  part of a broader 
syndrome
–Ex: Cleft Lip vs Trisomy 13
• Must differentiate sequence 
(singular defect) from a 
syndrome w/pleiotropy
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15
Q

when only one organ is that is affected by genetics what is it termed

A

malformation

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16
Q

what is dysplasia

A

morphologic anomaly involving a dynamic or ongoing alteration of cellular constitution or tissue
organization in a specific organ or tissue type (i.e. ectodermal dysplasia)

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17
Q

what is a disruption

A

congenital morphological defect of an organ, part of an organ, or a larger region of the body
resulting from the breakdown of a body structure that had normal developmental potential

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18
Q

name some human teratogens

A

alcohol, cocaine, phenytoin, ACE

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19
Q

when would alcohol affect the fetus

A 
less then 12 weeks 
Craniofacial 
anomalies, heart 
defects, recognizable 
syndrome
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20
Q

when does cocaine affect the fetus

A 
2nd to 3rd trimester
Abruptio placenta; 
intracranial 
hemorrhage, 
premature L/D
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21
Q

when does phenytoin affect the fetus

A 
1st trimester 
Craniofacial 
anomalies, 
hypoplastic phalanges 
and nails; 
recognizable 
syndrome
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22
Q

when does ACE affect the fetus

A

2nd to 3rd trimester
Renal dysgenesis,
oligohydramnios; skull
ossification defects

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23
Q

how could you advice someone who is pregnant and wants to avoid risks

A

Preconception counseling is a well established model for primary prevention
• Well known examples of preventable malformations:
 Avoidance of ETOH in pregnancy for Fetal Alcohol Spectral Disorders (FASD),
 Avoidance of opioids, illicit drugs in pregnancy for
NOWS, NAS
 Folate supplementation to prevent Neural Tube
Defects (NTDs),
 Rubella vaccination before pregnancy;
• 1998—mandatory folic acid enriched cereal
grain products by US FDA

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24
Q

what website would you use to evaluate toxic substances and risks

A

CDC ADSTR
Agency for Toxic Substances and Disease Registry
• Registry for evaluating toxic environmental substance exposures on
human health, including congenital malformations
• Examples: Lead,
Arsenic, Benzene,
Cadmium, PFA

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25
Q

using the CDC ADSTAR website what could you check for toxicity’s

A

Lead,
Arsenic, Benzene,
Cadmium, PFA

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26
Q

what is one what to prevent abnormalities that is small but obtainable

A

Teratogen can be prevented = agent external to the fetus’ genome that induces structural malformations, growth deficiency, and/or functional alterations during prenatal development

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27
Q

how can RN support genomic inclusion

A 
first step is to check with what the Institutional Assessment is 
 Content Experts in G/G?
 Lit Search and Resources; G/G Nursing 
Competencies
 Capable clinicians at the site (CNS, 
APRNs, DNPs or PhDs, GCs, MDs; 
front line RN staff who took a genetics 
class)
 Consultants, Mentors—Academia, 
Government
 EHR Infrastructure Status
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28
Q

what is the second step that RN can take for genomic inclusion

A 
Conduct Workforce Knowledge Assessment
– NHGRI Method of Introducing a New 
Competency (MINC)
– Genetics and Genomics in Nursing 
Practice (GGNP) Survey
– Other non-genomics HC pre-post tools 
or knowledge based items
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29
Q

what is included in a workflow assessment include

A 
– NHGRI Method of Introducing a New 
Competency (MINC)
– Genetics and Genomics in Nursing 
Practice (GGNP) Survey
– Other non-genomics HC pre-post tools 
or knowledge based items
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30
Q

what are the steps taken as an RN to support genomic inclusion

A
  1. institutional assessment
    2.conduct workflow assessment knowledge
  2. goal setting
  3. build a team
  4. form strategy and timeline for staff trying
  5. Assess organizational environment
  6. training and management
    8.
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31
Q

what does goal setting include when thinking about genomic planning?

A

where are the gaps in information
what programs could benefit this teaching
who can help lead it

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32
Q

what does training include

A 
• Case Study Presentations
• On-line learning; webcasts, 
CEUs; Healthstream
• Linking with other initiatives, 
events (i.e. Poster Day)
• Annual competencies
• Inservices and Rounds 
• Journal Clubs
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33
Q

what does marketing include for genomic inclusion

A

• Brand the initiative
• Make others aware of the need
& opportunity
• Be creative and have fun!

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34
Q

how can you measure the outcomes of this type of programming

A 
• Pre/Post GGNP Survey Scores
• Practice Change QI indicators
– Example: FHx assessments; PGx test 
results
• Process Evaluation
– Who, what, where, when
• Costs
– EHR and/or policy revisions, staffing, tools, equipment and training
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35
Q

Nursing Leadership in genetics and genomics includes

A 
• Unit and Institutional Leadership
– Service on Committees
– Research, IRB, Quality and Pt Safety, Professional Practice, Magnet
– Journal Clubs
• Professional Publications and Presentations
– Peer-reviewed journals
– Regional, national, and international 
conferences
• Professional Organizations
– ANA Membership (State, National)
– International Society of Nurses and Genetics (ISONG)
– American Society of Human Genetics
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36
Q

what does a positive work environment mean?

A

• Clinician well-being is essential for safe, high-quality HC
• PWE are characterized by an engaged and effective workforce, high-functioning care teams, and effective patient-clinician relationships, peer relationships
• Burnout, moral distress, emotional exhaustion produces high turnover
• High RN and MD dissatisfaction results in plans to leave the workplace; are associated with higher AEs, mortality and HAIs
• Successful S/T implementation is very unlikely in poor work environments
• Requires sustained attention at organizational, state, and national levels
• Investments in research and financial solutions to reverse trends and empower, protect staff and ensure
their resilience
• COVID-19 is a great opportunity to support HCW

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37
Q

what are some ethical social legal implications of genetics and genomics

A

• Preimplantation testing
• Genetic testing in children
– should only be pursued if clear actionable clinical interventional benefit can be provided
• Cloning
– therapeutic (embryonic vs non-embryonic)
– reproductive (unanimous opposition against)
• Embryonic stem cell research
• Biobanks and Biorepositories (samples held until
2060)
• CRISPR
• Eugenics
• Informed consent and incidental findings (i.e.
WGS/WES)

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38
Q

what are some ethical resources we could use

A

center for clinical bioethics

3 Georgetown resources

39
Q

what key legislation and regulations for genetics and genomics

A
  1. CLIA
  2. GINA
  3. FDA 21CFR50 and 56
  4. 45CFR46 “Common Rule” Institutional Review Board
  5. 45CFR164.524 “HIPAA”
40
Q

what does CLIA deal with

A

-Sets precise quality standards for clinical laboratories;
accreditation and biennial inspection, proficiency testing;
-Exempt for research lab tests;
-Must be CLIA-certified to receive CMS monies for lab tests
used “for the diagnosis, prevention, or treatment if any
disease or impairment of, or the assessment of the health of
human beings”, such as GTs for health decision-making.

41
Q

what does GILA regulate / legislation deal with

A

-Protects individuals from genetic discrimination from health insurance companies (Title 1) and employers (Title 2);
-Insurance companies may not request/require GTs; use GTs for eligibility decision-making.
-Employers may not use genetic information in employment decisions, or to make hiring, firing, promotions, pay, and job
assignments, or request as a condition of employment.
-Does not include small employers (<15), military/federal, LTC insurance, life insurance or disability insurance.

42
Q

what does FDA regulation/ legislation deal with

A

-Clinical investigations involving FDA-regulated products or supporting applications to FDA;
-Overlaps partially with IRB requirements, “Common Rule”;
-Stipulates regulatory requirements for ethical oversight of clinical research trials
elements such as informed consent, safeguards for children in investigations, IRB
operations, and noncompliance.

43
Q

what does the common rule deal with

A

-Administrative law that governs all HSR conducted or supported by federal
government and codifies an ethical framework with defined principles including:
beneficence, respect for persons, justice; major revision in July 2018
-Stipulates required parameters for informed consent and other aspects of ethical
research oversight;
-Multiple subparts:
B=Pregnant women, human fetuses, neonates
C=Prisoners
D=Children

44
Q

what are the three categories of the common rule and who is included in each

A

B=Pregnant women, human fetuses, neonates
C=Prisoners
D=Children

45
Q

what does HIPPA regulation deal with

A

-PHI (Protected Health Information): “individually identifiable health information,
including genetic information, that is received or created by an employer or
covered entity; related to past/present/future or physical or mental health condition
of an individual, or identifies or could be used to identify the individual”;
-HIPAA regulations protect the privacy and security of PHI and establish an array
of individual rights with respect to health information, and recognize the
importance of providing individuals with the ability to access and obtain a copy of
their health information; applies to 3 covered entities (HPs, HCPs and HC
clearinghouses).
-Enforced by HHS-Office of Civil Rights (OCR); fines and criminal penalties.

46
Q

how many identifies are included in the HIPPA privacy rule

A

18

think=
– Name
– SS #
– DOB
– Telephone #
– Geographic Locators
– Email, MRNs, Account
– Health Plan Beneficiary #
– Vehicle IDs, Device Locators
– Serial Numbers
– Biometric data, Images
– IP Address
– Any unique identifier for identification
47
Q

what are some examples of HIPPA issues in the news?

A
  1. Myraid Genetics
  2. Baltimore Ravens
    3: Biospecimens and Ownership/Control
48
Q

what is genetic testing

A

analysis of chromosomes, DNA, RNA, proteins or other analyses to detect abnormalities that can cause a genetic disease

49
Q

what is population screening

A

large-scale testing of populations for disease in an effort to identify persons who
probably have the disease and those who probably do not

50
Q

what is genetic screening

A

population screening for genetic variants that can cause the disease in the person w/the
variant or in the descendants of the carrier

51
Q

what are the components

A

public health assessment
evaluation of tests and interventions
policy development and interventions

52
Q

what is public health assessment

A

-Dx or condition should be an important health burden (illness,
disability, death)
-Known prevalence
-Natural hx of condition should be adequately understood

53
Q

what does validity mean when it comes to testing

A

Whether a screening test is able to separate those persons who have a disease from those who do not

54
Q

what does sensitivity mean

A

the test correctly identifies those with the disease (true +)

55
Q

what is specificity

A

the test correctly identifies those without the disease (true -)

56
Q

what do clinicians need?

A

accuracy = meaning that disease is actually present

57
Q

what does PPV mean

A

positive predictive value

58
Q

what does NPV mean

A

negative predictive value

59
Q

what will increase PPV

A
  • Using the same test in a population w/higher disease prevalence increases PPV
  • When considering PPVs for tests, recognize that prevalence rate plays a significant role
60
Q

how do calculate PPV

A

the fraction of persons with a positive test result who truly have the
disease in question (a/(a+b))

61
Q

how do we calculate NPV

A 
the fraction of persons with a negative result who truly do not have 
the disease (d/(c+d))
62
Q

what new born screening can be done to detect for abnormalities

A

tandem mass spectrum

expanded newborn screening

63
Q

how does tandem mass spectrometry

A

screens newborns for protein variants that signal
amino acid disorders/phenotypes (i.e. PKU, galactosemia, tyrosinemia, homocystinuria,
fatty acid oxidation disorders—MCAD, LCHAD)
– Uses dried blood spot, followed by analysis by 2 mass spectrometers
– 1st = separates ionized molecules by mass; 2nd = assesses mass and
charge of fragments and computer generates profile of the sample
– Highly accurate, fast; >30 disorders can be screened in approximately 2
minutes

64
Q

how many disorders can TMS screen for in newborns

A

> 30 disorders

less then 2 minutes!

65
Q

what is DHHS RUSP

A

• RUSP: Recommended Uniform Screening Panel; managed by
DHHS-HRSA
• 35 core conditions recommended for state newborn screening programs;
26 secondary conditions

66
Q

what does state autonomy mean in terms of DHHS RUSP

A

• State autonomy: not uniformly adopted, may be due to costs, low
incidence, other logistical and political barriers (i.e. monitoring and
follow-up compliance)
• S/T high adopters; WES-WGS
• Prof orgs and ACMG actionable variant recommendations for incidental findings

67
Q

what does heterozygote screening mean and who may you see it preformed on?

A

testing at the phenotype or genotype level a target population to
identify unaffected carriers of a disease gene (i.e., Ashkenazi Jewish, Middle Eastern, Southeast Asian, etc).

68
Q

what is a Pre-symptomatic diagnosis

A

use of genetic testing to identify persons who have inherited a
disease-causing gene before they develop symptoms
• Prenatal carrier screening does not replace NBS, and vice versa

69
Q

what allows for a direct diagnosis in terms of screening

A

looking at mutations
tests that can detect mutations = direct diagnosis
– FISH; arrayCGH; SNP microarrays
– Sanger DNA sequencing
– Southern Blot, Multiplex ligation-dependent probe amplification (CNVs, large repeat
expansions)
– PCR followed by allele-specific oligonucleotide (ASO) probe hybridization
– Whole genome, whole exome sequencing
– Targeted disease, sequencing panels: PGx,
Colon and Breast Cx, hereditary
cardiomyopathies (i.e. Tier 1-2)

70
Q

what is an issue with using whole genome sequencing for screening

A
  • Large numbers of variants of unknown significance

* Issues regarding the reporting of incidental findings

71
Q

for direct diagnostic testing what do you need from a patient (what attributes these diagnosis’s)

A

the disease causing mutations must be identified

single test screening can uncover multiple mutations

72
Q

for indirect diagnostics - what information do we need to attribute to a diagnosis

A

family history
errors because of possible recombination stuff
markers may be uninformative
a single test can uncover multiple mutations

73
Q

what does a positive AFP indicate?

A

– A positive test result identifies a subgroup for further confirmatory testing for aneuploidy syndromes and NTDs
– Amniocentesis (withdrawal of amniotic fluid during pregnancy) is the next step
– Presence of positive confirmatory result may not be indicative of true dx severity

74
Q

what tests look at fetal tissue

A

amniocentesis
CVS
cordeostensis
preimplantation diagnosis

75
Q

what test visualize the fetus

A

MRI ultrasound CT

76
Q

what tests can be detected by amniocentesis or CVS

A

galacstomia
methylmaclomia acidemia
tay sachs
less nan syndrome

77
Q

what is the measurable enzyme for galacstemia

A

Galactose-1-ridyl transferase

78
Q

what is the measurable enzyme for methyl academia

A

Methylmalonic coenzyme A mutase

79
Q

when is a CVS performed and what occurs

A

• 10-11 weeks post-LMP
• Aspirating fetal trophoblastic tissue (chorionic villi) by either a transcervical or
transabdominal approach
if couple considering termination = good test to get to determine fi anything wrong
not much fetal harm done

80
Q

during a CVS what type of mocaisim can be detected

A

Confined placental mosaicism = a form of mosaicism observed in the placenta but not
the fetus, seen in 1-2% of cases, still requires F/U amnio

81
Q

what is known about amniocentesis

A

• 15-17 weeks post-LMP
• Slight increase risk of fetal loss at 0.2-0.3% (1/300-1/500); risks worse for earlier amnio
procedures at 12-14 weeks
• Testing procedure and parameters

82
Q

what type of misdiagnosis can occur with an amniocentesis

A

– Pseudomosaicism = false indication of fetal mosaicism caused by an additional
chromosome artifact of in vitro cell culture

83
Q

how do you confirm true mocaisism after an amniocentesis test

A

• True mosaicism exists if an extra chromosome is present in all fetal
cells, must be confirmed through fetal blood sampling

84
Q

what is done during Percutaneous Umbilical Blood Sampling

A

• 16 weeks post-LMP
• Cordocentesis, or percutaneous umbilical blood sampling
• Preferred method to directly access fetal blood
• Ultrasound-guided puncture of the umbilical cord and withdrawal of fetal
blood
• Used for when rapid diagnosis, confirmation of mosaicism is needed
• Analysis is completed in 2-3 days.

85
Q

what is gene therapy

A

the insertion or alteration of genes to correct/treat a disease
• Approx 2,600 gene therapy protocols involving more than 100 different genes, not limited to inherited diseases (i.e. AIDS). See Table 13.8 in your book for examples of somatic cell gene therapy with therapeutic effects (Hemophilia A and B, XL SCID, SMA Type 1).

86
Q

what is gremline gene therapy

A

alterations involving all cells of the body, including gametes (not ethical, many technical hurdles, generally considered not useful or desirable)

87
Q

what is somatic cell gene therapy

A

alterations of genes in human somatic cells to treat a disease; two primary approaches: in vivo and ex vivo
– In vivo = the cells are treated while they are in the body
– Ex vivo = patient’s cells are extracted and manipulated outside the body

88
Q

what are retroviral vectors

A

viral delivery system
Retrovirus is a form of RNA virus, can insert copies into host cell nuclei after reverse
transcribing viral RNA into DS DNA

89
Q

what occurs with retroviral use? thinking about retroviral gene therapy

A

Retroviral Vectors (carriers)
– The retrovirus is prevented from replicating by removal of most of its genome
– A normal human gene is inserted in the retrovirus
– Incubation with human somatic cells allows the retrovirus to insert copies of the normal human gene into the cell
– Once integrated into the cell’s DNA, the inserted gene produces a normal gene
product
– PROS: offer stable integration into genome
– CONS: only works for dividing cells; not able to transduce non-dividing cells (i.e.
neurons; but could work for neurons impacted by cancer); can insert near a proto-oncogene and cause cancer

90
Q

what is an adenoviral vector

A

• Adenovirus is a DS-DNA virus
– Often used in vaccine preparations
• A genetically engineered adenovirus vector introduces the DNA into the nucleus of the cell
• Genetic information from the new gene is transferred to mRNA and serves as ablueprint for protein production
• PROS: Can insert into nondividing cells, will not enter integrate into host cell’s DNA so will not activate proto-oncogenes and cause cancer
• CONS: lack of integration into host cell DNA, eventually inactivated; the portion of the
adenovirus that is used often provokes an immune response

91
Q

what is Adeno associated viral vectors

A
  • Type of parvovirus
  • Requires presence of adenovirus for normal replication, adeno-associated, (AAVs).
  • Have become more popular in clinical trials for many disorders: CF, hemophilia B, DMD, Parkinson’s, Alzheimer’s
  • PROS: AAVs can transduce non-dividing cells and elicit much less of an immune reaction; capable of sustaining action/expression for several months to years
  • CONS: Size limited to 4.5 kb
92
Q

what is a Lentiviral virus?

A

Lentiviral viruses are complex RNA retroviruses that can transduce non-dividing cells through pores in the nuclear membrane
– HIV is an example
• Integrate stably within the genome
– Can accept inserts up to 8 kb
– Self inactivating
– Can transduce most dividing cells (but not G0 cell cycle cells)
– Receive intensive R/D focus b/c of their stability and efficacy

93
Q

when would retroviral gene therapy be used

A

on dividing cells so cannot transduce non dividing cells

94
Q

when would gene replacement therapy not work

A

Gene replacement therapies do not work for GOF or dominant negative
mutations (i.e. Huntington, Marfan)

Genetics (3 decks)

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