Introduction to Practice Issues:
Genetic Testing and Consent; Nursing
Scope of Practice
Ethical, Legal, and Social Implications
(ELSI) for Genetic Practice;
Dr. Gloria Giarratano
N3451 Genetic Health Across the Life
Span
Overview of Genetic Testing
Role of the Nurse
• Explain the scientific basis for genetic screening.
• Identify nursing’s role in genetic testing.
• Identify the ethical, legal, social, and policy
implications of genetic health care.
• Describe the role of the nurse regarding ELSI
dilemmas in genetic practice.
• Identify the sources for discrimination due to genetic
screening and diagnosis.
What is a genetic test?
A genetic test is a test that involves the
analysis of chromosomes, genes and/or gene
products (e.g. proteins or enzymes) to
determine whether a genetic alteration
related to a specific disease or condition is
present. (Secretary's Advisory Committee on
Genetic Testing, 2002.)
Genetic Testing The analysis of samples in order to detect alterations
related to a heritable disorder.
This can be accomplished by
directly examining:
•the DNA or RNA that makes
up a gene (direct
testing),
•assaying certain metabolites
(biochemical testing),
•examining the chromosomes
(cytogenetic testing).
Genetic Testing Points of Interest
• Genetic test results usually apply not only to the
patient but also to other family members.
• Genetic testing is best performed in the context of a
genetics consultation including informed consent, test
interpretation, and follow-up medical and psychosocial
services as indicated.
• Because genetic disorders are rare and DNA
technologies are required, genetic testing is often
done only by specialized laboratories.
.
Genetic Testing Points of Interest
• In order for genetic testing to yield meaningful
results:
• Other family members may need to be tested
• A genetics consultation may be appropriate
• These services may entail additional costs
Screening vs Testing
• Genetic screening – testing on a population basis to
identify individuals at risk of developing or of
transmitting a specific disorder (have a higher
tolerance for false positive/negatives because there
is follow-up testing)
• Genetic diagnostic testing – testing of individuals
based on family history of a disorder; precision of the
test is more important!
Single Gene Disorders
• Mutation alters the genotype & protein
Identified by:
• Phenotype
• Biochemical genetic testing (enzyme, bio)
• Molecular Direct genetic (DNA) testing
(Different processes – See Ms. D’Angelo’s
lecture)
Biochemical Testing
• Test for metabolites or bi-products of
altered metabolism
• Test urine or blood; occasionally test tissue
biopsy
• Sometimes more cost-effective to run a
biochemical test, they start with genetic
test.
Biochemical Testing may be the best way to
establish a clinical diagnosis.
• CF : chloride sweat test (high)
• PKU: blood phenylalanine levels (high)
• Tay Sachs: blood hexosaminidase A levels
(low) (Absence of enzyme to break down
fats = toxicity over time).
Diagnosing Chromosome Disorders
• Chromosome Analysis:
• Karyotype – number, order
The place to go for information
Genetic Testing Registry (GTR®)
https://www.ncbi.nlm.nih.gov/gtr
Information resource for healthcare providers to
help integrate genetic services into patient care
• Current information on genetic diseases, test use in
diagnosis, management, genetic counseling
• Search genetic clinical services sites
• Search genetic laboratories to send specimens
Why are genetic tests ordered?
Diagnosis medical condition with tx
 Predictive Testing (with & without tx)
 Carrier Testing
 Population Screening with tx (Newborn)
 Drug Selection Use; Pharmogenetics
 Identity Testing
 Personal Knowledge

Uses of Genetic Testing
• Diagnostic
• Carrier
• confirm or rule out a
known or suspected
genetic disorder in a
symptomatic individual
• identify individuals who
have a gene mutation for a
disorder inherited in an
autosomal recessive or Xlinked recessive manner
(asymptomatic)
Uses of Genetic Testing
• Predictive
1. Pre-symptomatic
2. Predisposition
• asymptomatic individuals
with a family history of a
genetic disorder
• eventual development of
symptoms is certain when the
gene mutation is present,
e.g., Huntington
• eventual development of
symptoms is likely but not
certain when the gene
mutation is present, BrCa
breast cancer.
Predictive genetic testing is key to advance
personalized, precision health
• The diagnosis of genetic condition is
confirmed in the family before predictive
testing is used.
• Confirm the diagnosis in an affected relative
first; Test for mutation
• Then offer other relatives at risk, predictive
testing
Nursing Role and Responsibilities
related to Genetic Testing
Nursing Roles and Genetic Testing:

Comprehension assessment of persons
considering a decision to have a test

Providing appropriate education and counseling
regarding genetic testing

Participate in informed consent for testing

Multiple disciplines participate in the assessment
and testing process: Referral
Assessment: Do they want the test?
What do they need to know to make a decision?
• Identify who can benefit from genetic testing
• Assess what client wants to know
• Assess how client wants to use the genetic
information
• Assess client’s knowledge
• Assess familiarity with language
• Assess ability to handle stress
• Assess decision-making process
Informed Consent for Genetic Testing
• Purpose of the genetic test
• Information about the disorder
• Risks vs benefits
(risks of misidentified paternity if applicable)
• Limitations of testing
• Interpretation of the results
• Implications of the information: decision-making
• Alternatives: right to refuse
• Cost
• Confidentiality
Genetic Testing
Risks
vs.
Benefits
• Emotional Distress
• Unknown
significance/error
• Family Tension
• Discrimination
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Emotional Relief
Information for children
Health Promotion
Life plans
Results of Genetic Testing
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Phone or in person? Who?
Educational Opportunity
Implications for Negative Results
Inform clinical decision-making
Educational resources available
Follow-up?
Ethical, Legal, and Social Implications
(ELSI) for Genetic Practice
and
Role of the Nurse
Ethical, Legal, Social Issues
related to Genetic Testing
• Fairness
Who should have access to personal
genetic information?
• Privacy &
Confidentiality
Who owns and controls genetic
information? Storage/access?
• Psychological How does personal genetic
Impact/
Stigmatization
information affect perceptions of that
individual?
What about ethnic communities?
Ethical, Legal, Social Issues
related to Genetic Testing
• Reproductive
Issues
What issues do families confront
when making difficult decisions
based on genetic risks?
Is fetal genetic testing reliable?
Reproductive technologies?
• Clinical issues
Are health care providers and
general public educated in benefits
and limitations, risks of genetic
testing?
How accurate and reliable are
genetic tests?
Ethical, Legal, Social Issues
related to Genetic Testing
• Uncertainties
• Commercialization
Should gene testing be
performed when no
treatment is available?
Who owns genes and DNA?
Commercial testing vs.
using medical care system?
Ethical Principles
• Beneficence-duty to do good
• Nonmaleficence - duty to do no harm
• Autonomy-duty to respect others/make own
decisions
• Veracity- duty to tell the truth
• Fidelity- duty to keep one’s promise or word
• Justice-duty to be fair in the distribution of risks
and benefits
• Confidentiality-duty to hold information as private
Key Ethical Principles:
Genetic Testing
• Handled in confidential manner.
• Preceded by education, counseling, and
informed consent.
• Has potential limitations and risks and benefits.
• Help people understand limitations, risks, and
benefits is a component of informed consent
• Decisions about genetic testing are personal.
ELSI Considerations in Predisposition
Testing
• Predisposition genetic testing –very expensive;
Who has access to it?
• Not all insurers cover testing and counseling
• Predisposition testing: Insurers may not cover
enhanced surveillance or prophylactic surgery
etc. without proven efficacy
(ELSI) Personal Psychological
Consequences of Predisposition Testing
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Survivor guilt in the unaffected
Transmitter guilt
Anxiety in knowing risk potential
Depression and Anger
Regret earlier decisions
Uncertainty about predisposition
Stigmatization within family and individual’s
social network
Carrier/Predisposition Testing in
Children
Why not test children who are< 18years?
• Deprives the individual of the right to
choose to know versus not know
• Social stigma (relationships, education,
family)
Ethical Legal Practice Issues
• Failure to Offer Testing:
• In 1983 a South Carolina Federal District court
allowed the parents of a boy with Down
syndrome (due to a familial translocation) to
recover damages totaling over one million dollars
• During the pregnancy that resulted in her son
with Down syndrome, the mother mentioned that
her sister had Down syndrome.
• The mother was never provided with genetic
counseling regarding inherited translocations
that can cause Down syndrome nor was she
karyotyped.
Phillips v United States
Ethical Legal Practice Issues
• Failure to WARN related family members:
• In 1996, the New Jersey Superior court
ruled that the physician had a duty to
warn the patient and family members of
a genetic risk. The court reasoned that
this duty may not always be satisfied by
warning the patient.
(Safer v Estate of Pack)
• Donna Safer's father died of colon cancer due
to familial adenomatous polyposis (FAP). Ms.
Safer also developed colon cancer and has
been diagnosed with FAP.
• Ms. Safer brought a lawsuit claiming that her
father's physician never warned the family of
the risk to his children. (ref: Suter, 1998) Safer
v Estate of Pack, 677 A2d 1188 (1996)
Professional Disclosure of Familial
Genetic Information (Am Soc Hu Gen)
• General Rule of Confidentiality
-- Protected by legal and ethical principles
• Exceptional Circumstances:
-- Disclosure permissible where attempts for
pt. to disclose have failed.
-- Harm is serious & likely to occur; disease is
identifiable; standards of care indicate early
monitoring or care will reduce risks.
-- Harm from failure to disclose should
outweigh the harm from disclosure
Three Characteristics of ethical dilemma:
What should be done?
• Conflict of values, obligations, loyalties,
interests, or needs in a patient situation
(disagree on care)
• Ethical principles or values are at stake or in
conflict (autonomy, doing the least harm)
• Situation involves the feelings and values of all
key persons involved in the situation
Ethical Principles
• Beneficence-duty to do good
• Non-maleficence - duty to do no harm
• Autonomy-duty to respect others/make own
decisions
• Veracity- duty to tell the truth
• Fidelity- duty to keep one’s promise or word
• Justice-duty to be fair in the distribution of risks
and benefits
• Confidentiality-duty to hold information as private
Ethical Decision Making for Dilemnas
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Identify all important persons
Gather relevant data
Identity the ethical principles
Role of Ethic Committee
Propose alternative courses of action
Take Action
Evaluate
GINA
Genetic Information
Nondiscrimination Act
• Signed into law on 21 May 2008 by
President George W. Bush
Law in effect since
• 21 November 2009
GINA: Types of Protected Genetic
Information
• Family medical history
• Carrier testing
– e.g., cystic fibrosis, sickle cell anemia, spinal muscular atrophy,
fragile X, and other conditions
• Prenatal genetic testing
– e.g., amniocentesis, chorionic villus sampling, and other
techniques
• Susceptibility testing
– e.g., BRCA testing for breast cancer risk, testing for Huntington
disease, or testing for HNPCC for colon cancer risk
• Analysis of tumors involving genes, mutations, chromosomal
What does GINA do?
Health Insurers
• Prohibits using a person’s genetic information in
setting eligibility or premium or contribution
amounts
• Prohibits health insurers from requesting or
requiring that a person undergo a genetic test
• Cannot consider genetic information a pre-existing
condition
What does GINA do?
Employers
• Prohibits use of a person’s genetic information
in decisions such as hiring, firing, job
assignments, and promotions
• Prohibits requesting, requiring, or purchasing
genetic information about an individual
employee or family member
What GINA Does Not Do
• Apply to life, disability, or long-term-care
insurers, as of the date listed on this
presentation
• Provide employment protections in
organizations with fewer than 15 employees
• Protect certain groups, including the military
and federal employees