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
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…
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
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)