ETHICAL, LEGAL ,PSYCHOSOCIAL

ISSUES IN GENETIC TESTING .

GENETIC COUNSELLING .
APPLICATION OF GENETICS IN
NURSING .
Presented by
Salini R
First year M.sc nursing
MES CON
BASIC PRINCIPLES OF GENETICS
• MITOSIS : Mitosis is a type of cell division that
results in the formation of genetically identical
daughter cells .
• It occurs in the somatic cell or body cell
• MEIOSIS : meiosis occurs in sexual
reproductive cells

It helps in producing gametes

• INHERITENCE : The transmission of a gene from parent to child
AUTOSOMAL RECESSIVE INHERITANCE
AUTOSOMAL DOMINANT DISORDERS
SEX LINKED DISORDERS
GENETIC DISEASES AND THEIR INCIDENCE
 GENETIC TESTING

• Genetic test include tests for the possible

presence of genetic disease or mutant form of
genes associated with increased risk of
developing genetic disorder
 INDICATIONS FOR MAKING GENETIC
REFERRAL

• Maternal risk factors

• Prenatal risk factors
• Pediatric conditions
TYPES OF GENETIC TESTING

Non invasive

Invasive test
LEGAL, ETHICAL AND PSYCHO SOCIAL
ISSUES IN GENETIC TESTING
 LEGAL ISSUES RELATED TO GENETIC
TESTING

• Protection of human subject

• Health Insurance Portability and Accountability Act
(HIPAA)
• Genetic Information Nondiscrimination Act (GINA)
This legislation bars using genetic information when
making hiring , job placement , or promotion descision
The act came in progress from the year 2008.
ETHICAL ISSUES IN GENETIC TESTING
TRADITIONAL ETHICAL PRINCIPLES
Respect for autonomy
Beneficence and maleficence
Privacy and confidentiality
Justice and equality
•Respect for autonomy
• Beneficence and non maleficence
Beneficence – maximize the benefits
Non maleficence – “to first do no harm”
• Privacy and confidentiality
Right to make an informed decision about whether
or not other third parties should have access to
genetic information about the person undergone
genetic testing.
• Justice and equality
This principle refer to whether the patient is treated
equally and fairly in the context of society
 PSYCHOSOCIAL ISSUES

• Reduction of uncertainty
• Alteration of self image
• Pre symptomatic diagnosis
• Information about new health
 Genetic testing may give information about future health which can have implication for
planning once life .
 The possibilities of early illness or death may influence an individuals educational goal
occupational choice and specific carrier plans .
 It may also influence choice of domicile , perhaps to live closer with family and other
supportive system.
 GENETIC COUNSELLING
• DEFINITION

It is defined as process in which patients or their relatives at the

risk of genetic disorders are made aware of the consequences of the
disorder , its transmission and the way by which this can be
prevented or mitigated.
• DEFINITION
Genetic counseling is a communication process by
which personal genetic risk information is
translated into practical information for families .
• THE GENETIC COUNCELOR
DEFINITIONS
The genetic counselors are health care professionals with
specialized training and experience in the area of medical
genetics and counseling .
ROLE OF A GENETIC COUNSELOR
 ASPECTS OF GENETIC COUNSELING

• Obtaining a pedigree
• Tracing and ethnicity
• Exploring issues of consanguinity
• Documenting exposure to toxins , disease or
environmental agents during pregnancy.
 1. PEDIGREE

• A pedigree is made of symbols and line that represents

family history.
• Through drawing a pedigree the counselor can calculate
the probability of occurrence of genetic disorder in the
future.
 2.ETHNICITY

•In obtaining health history , a genetic

counselor asks about a persons
ethnicity or ancestor origin .
 3.CONSANGUINITY

• When two are related by blood there is an increased chance for their children
to be affected with conditions that are inherited in a recessive pattern.
•  studies have shown a relationship between consanguinity and some genetic
conditions and health problems such as phenylketonuria (PKU),
immunodeficiency disorders, children’s hypertension, beta-thalassemia, protein-C
 and protein-S deficiency, low birth weight and Down syndrome
 4. EXPOSURE DURING PREGNANCY

• If a women has taken medications or had exposure to

a potentially harmful substance from the environment
such as chemical , toxins or radiations .
 PRECAUTIONS TO BE TAKEN BEFORE
GENETIC COUNSELING

• Mentally
• Emotionally
 STEPS OF GENETIC COUNSELING

• History collection
• Pedigree charting
• Estimation of risk
• Transmitting information
• Management
• Preventing aspects
• Follow - up
 HISTORY COLLECTION

• Present and past history

• Family history
• Obstetric history
• Enquiry about consanguinity
 PEDIGREE

•It is most time consuming though

ultimately rewarding .
 ESTIMATION OF RISK

• To estimate the risk of getting genetical disease one requires

taking into account following points.
Mode of inheritance
Analysis of family tree /pedigree
Results of various tests
 TRANSMITTING INFORMATION

• The points to consider while communicating the genetic

information to the patient are..
Psychology of the patients
Attitude of family members toward patient
Educational social and financial background of the family
Ethical , moral ,and legal implications involved in the process
Communication skill of the counselor to transmit fact in the more acceptable manner
MANAGEMENT
 PREVENTING ASPECTS

In people with risk of getting a baby with genetic

disease , it should be identified and the pregnancy
should be terminated .
 FOLLOW –UP IN A GENETIC CLINIC

• Follow up helps to understand that the

client understand and remember the
information given to them.
 TYPES OF GENETIC COUNSELING

• Prenatal genetic counseling

• Pediatric genetic counseling
• Adult genetic counseling
• Cancer genetic counseling
PRENATAL GENETIC COUNSELLING
PEDIATRIC GENETIC COUNSELLING
ADULT GENETIC COUNCELLING
 THE COMPONENTS OF A TYPICAL CANCER
GENETIC COUNSELLING SESSION INCLUDE:

• Setting a mutual agenda for the session

• Addressing psychosocial issues and emotional concerns
• Taking a detailed medical and family history
• Providing risk assessment and risk counselling
• Directing an in-depth consent process for genetic testing, when applicable
• Disclosing results of genetic testing, when applicable
• Summarizing and planning for follow up
 THE NATIONAL SOCIETY OF GENETIC
COUNSELORS CODE OF ETHICS

• Autonomy – value for persons individual ability

• Beneficence - personal well being
• Justice and equality – equal care for all
RESULT
ROLE OF NURSE IN GENETIC COUNSELING
APPLICATION OF GENETICS IN NURSING
 MAIN ACTIVITIES OF NURSES IN GENETICS
RELATED NURSING PRACTICES .
• Help to collect and interpret relevant family and medical histories .
• Identify patients and families who need care and counselling
• offer genetic information to patients .
• Participate in management and coordinate care