This document discusses the ethical, legal and psychosocial issues related to genetic testing. It notes that genetic testing can help identify asymptomatic individuals at risk for late-onset diseases or disease susceptibilities, but this brings up significant legal, ethical and psychosocial concerns if negative implications are found. It emphasizes informing and counseling affected families, promoting well-being, and respecting individuals' interests and abilities to make their own decisions. Key issues addressed include potential benefits and harms of testing, psychosocial impacts, family decision-making processes, and the role of healthcare providers.

1. Ethical, Legal
and Psychosocial
Issues in Genetic
Testing

2. • Very significant population in a society
Children
Adolescents

3. • Latest genetic knowledge and technologies helps in the
checking of these asymptomatic individuals
– Late onset of the disease
– Disease susceptibilities
– This brings in lot of legal, ethical and psychosocial
issues if there is negative implication

4. •to acknowledge
• discuss such issues with the affected families
Health care providers

5. Create Awareness
• Genetic testing and its primary goal
– promote well being
– It imparts the idea that both parents and
professionals should be attentive
• to the child’s increasing interest
• ability to participate in decisions
concerning his/her own welfare

6. A. Impact of Potential Benefits and Harms on
Decisions about Genetic testing
1.Primary justification for genetic testing- timely
medical benefit to the symptomatic individuals
– Genetic testing here= medical diagnostic evaluations
– Medical benefits include
Preventive measures
Therapies
Diagnostic information
If medical benefits are uncertain, justification of
testing is less compelling

7. Issues to discuss with families with regard to
Genetic testing
Potential benefits and harms of the test
Decision making capacity of the individual
undergoing the test
Advocacy on behalf of the Individual

8. Points to Consider
2. Substantial psychosocial benefits to the competent
adolescents
The benefits & harm of many genetic tests are more of
psychosocial nature than physical
Relevant Issues include
 Anxiety
 Pain
 Self Image
 Uncertainty
Impact on decisions
relating to
1. Reproduction
2. Education
3. Career
4. Insurance
5. Life style

9. Points to Consider
3. genetic testing should be generally deferred
These principles are exempted; when individuals face
 Competence
 Voluntariness
 Adequate understanding of the information
Further consultations with other genetic services
providers
1. Pediatricians
2. Psychologists
3. Ethical Committee

10. Points to Consider
4. If the balance of the benefits
and harm is uncertain; the
providers should respect the
decision of the competent
adolescents and their families
Thorough discussion with the
family
• Explain in detail the pros and cons
of the issue
• Assess the family’s understanding
of the genetic testing benefits and
harms

11. Points to Consider
5. Testing should be discouraged, when provider
determines the potential harm of genetic testing in
children
6. Health care provider has no obligation to provide
service ;when the individual is not interested

12. B. The family’s involvement in decision
making
1. Education of parents and individuals should
precede genetic testing
– Educate
– Counsel
– Refer
– Follow up
at appropriate time
2. If there is difference of opinion (between individuals and
family)a proper consensus should be arrived at through
discussions

13. 3. The provider should be an advocate of the individual
undergoing genetic testing
4. The results of genetic testing should be disclosed or
not is advocated to the individual and his/her family
by the provider (advocates the outcome of if /if not
the results are disclosed)
5. The provider also informs the individual and family to
conceal the information if needed
6. Some tests like test for Huntington’s disease and
breast cancer has minimum age limit of 18 (Below
these ages the individuals are incapable of providing
an informed consent) The issue is different when it
comes to a very small child…

14. Informed
consent

15. Huntington Disease
• Huntington disease (HD) is a progressive
disorder of motor, cognitive, and
psychiatric disturbances.
• The mean age of onset is 35 to 44 years
• Median survival time is 15 to 18 years
after onset.

16. Clinical Diagnosis
The diagnosis of Huntington disease (HD) is
suspected clinically in the presence of the
following:
• Progressive motor disability ;voluntary
movement may also be affected
• Mental disturbances including cognitive decline,
changes in personality, and/or depression
• Family history consistent with autosomal
dominant inheritance

17. Huntington Disease
• The diagnosis of HD rests on
– positive family history,
– characteristic clinical findings,
– the detection of an expansion of 36 or more CAG
trinucleotide repeats in the HD gene.

18. Demand for Research
• Research should focus on
– Effectiveness of genetic testing- its preventive
and therapeutic interventions
– Psychosocial impact of tests

19. Medical issues
1.Treatment and Prevention supported by public and medical
professionals
– Familial hypertrophic cardiomyopathy (sudden death)
(Drug therapy- prevent arrhythmias, changes in lifestyle)
-familial hyperlipidemia
(Dietary restrictions)
There are certain other genetic testing involved which may cost
very high , but may not bring about proper diagnosis or when
diagnosed may not not have available treatments
This leads to unrest and tension….
Routine tests are recommended here

20. Medical issues
2.Effective surveillance
– Can identify susceptible individuals
– Predict cancer(we know the possible genes that
when mutated can lead to cancer
– Poor surveillance might also tell upon the
integrity of genetic testing
Prognostic tests should be accurate which is supported
by additional effective diagnostic protocols and tools

21. Medical issues
3.Refinement in prognosis
is indeed done by
genetic testing
• A good correlation could be
drawn between phenotype and
genotype
• To Understand the mutation in
a gene and its transfer to
successive generations

22. Medical issues
4.Clarification in diagnosis
Information provided should be true-
parentage/adoption
Uncertainity of tests should be revealed
earlier
Cost of the tests and outcome should be pre –
informed
Genetic test will benefit both individuals as
well as family members

23. Psychosocial Issues
1.Reduction of Uncertainty
• Uncertainty and anxiety ( when if the
individuals and family members are unaware
of the gravity of the situation)
• Help them to face the situation boldly
• Convince them about the benefits of the
testing
• When the tests are favorable confidence will
also accrue in them

24. Psychosocial Issues
2. Alteration of Self Image
– low self esteem
– age- appropriate genetic counseling
recommended
– Encourage them
– fight against their low self esteem
– make them aware that they no less than any
around them

25. Psychosocial Issues
3. Impact of family relationships
Siblings Individuals(affected)
Siblings
Parents Individuals(affected)

26. Psychosocial Issues
4. Impact on Family planning
EDUCATIONAL
GOALS
Occupational
choices
SPECIFIC
CAREER PLANS
Social
relationships
FAMILY
RELATIONSHIPS

27. Reproductive issues
• Those who have genetic disorders -avoid
having a child
• Options available
Artificial
insemination
from donor
Adoption
In vitro fertilization
with pre-
implantation
diagnosis
Prenatal
diagnosis
Termination of
pregnancy

28. Promoting interests of individual and the family
• Decision making
• Roots of parental authority
• Limits of parental authority
• Recognize the authority of the minors

29. Ry

30. Role of
a
Nurse

31. Academic excellence
– Clinical Aspects
– Genetics
– Principles of genetic counseling
– Genetic tests
– Genetic testing and consequences
– Ethical ,legal and psychosocial issues
– Treatment strategies and implications
– Administration of medicine
– Dietary aspects of patients

32. Assist Clinicians
• Ability to act on emergency situations
• Treatment strategies for symptomatic ,
asymptomatic and susceptible individuals
• Clear idea of legal, ethical and psychosocial
issues associated with genetic testing
• Good planning skills
• Good counseling capacities

33. • Management for special critical emergency
cases
• Ability to describe negative aspects in a
positive manner
• Ability to acknowledge
• Excellent decision making capacities
considering the advice delivered by clinicians

34. • Ability to make suggestions to superiors and
confused affected planning
• Compassionate towards the affected
• Cautious and vigilant during medical
surveillance
• Ready to act (24X7)