Module 1: Genetics Overview

Genes

basic units of heredity that determine both the physical and cognitive characteristics of people

Genes

composed of segments of DNA, woven into strands into the nucleus of all the body cells to form the chromosomes

Mitosis

cell division that occurs in non-reproductive cells

Mitosis

produces exact copies of the parent cell

Meiosis

cell division that occurs in reproductive cells or gametes

Haploid

23 chromosomes

Diploid

46 chromosomes

2 identical daughter cells

result of mitosis

4 sex cells

result of meiosis

1-22 are called?

autosomes

Where can we find chromosomes?

inside the cell, specifically in the nucleus

Cytogenetics

study of chromosomes by light microscopy and the way by which cellular aberrations are identified

Genome

complete set of genes present

Abbreviation of normal genome

46XX or 46XY

Genotype

actual gene composition

Phenotype

a person’s phenotype refers to his or her outward appearance of the expression of genes

Gregor Mendel

father of Genetics

Genetics

field of Biology that studies how characteristics are passed from parent to child

What traits did Mendel look at while studying pea plants?

-height

-pod appearance

-seed texture

-position of flowers

-flower color

-pod color

-seed color

Homozygous

2 health genes from the mother and father

Heterozygous

1 gene is healthy, 1 gene is unhealthy

Both parents are a carrier of a disease, how many % of the children have the condition and don’t?

75%- no disease

25% no disease and not a carrier

50% no disease but a carrier

25%- with disease

Father has the disease but mother does not and is not a carrier, how many % of the children have the condition and don’t?

50% no disease

50% with disease

Father does not have the disease but mother is a carrier, how many % of the children have the condition and don’t?

50%- son without disease

50%- son with disease

50%- daughter without disease

50% - carrier daughter

Father has the condition but mother does not have the condition, how many % of the children have the condition and don’t?

50%- with disease

50% without disease

Genomic imprinting

alleles inherited from the father are expressed differently from the mother

Nondisjunction abnormalities

uneven cellular division during meiosis

Nondisjunction abnormalities

failure of homologous chromosomes to separate properly

Deletion abnormalities

a portion of the chromosomes is missing or deleted

Translocation abnormalities

a portion of one chromosome is transferred to another chromosome

Genetics

study of the way such disorders occur

Mendelian Genetics

investigates family patterns of inheritance

Cytogenetics

uses techniques of cytology and microscopy to study chromosomes and their relationships to hereditary traits

Molecular genetics

uses biochemistry to study structure and function of DNA

Genetic counseling

provide an opportunity for patients to understand and incorporate genetic information to make informed decisions

TRUE OR FALSE: Genetic counseling increases the family’s understanding about hereditary diseases

TRUE

TRUE OR FALSE: Genetic counseling increases the family’s understanding about the risks and benefits of confirmatory or genetic testing

TRUE

TRUE OR FALSE: Genetic counseling increases the family’s understanding about the risks and assessments and occurrence of hereditary diseases

TRUE

TRUE OR FALSE: Genetic counseling increases the family’s understanding about diseases management

TRUE

TRUE OR FALSE: Genetic counseling further explains results of testing related to hereditary diseases

TRUE

TRUE OR FALSE: Genetic counseling identifies with the individual and family the psychosocial tools required to adjust to potential outcomes and reduce the family’s anxiety

TRUE

TRUE OR FALSE: Genetic counseling’s strategies vary within and across countries to achieve outcomes

TRUE

Genetic counselors

trained in medical genetics and psychosocial counseling

TRUE OR FALSE: Genetic counselors do not need to have any special training to conduct psychosocial counseling of patients and members of their families with risks for genetic disorders.

FALSE

TRUE OR FALSE: Genetic counseling involves data gathering of past health history information and assessment.

FALSE: family history information

Medical geneticists

provides the clinical diagnosis and management of a patient and other medical specialties in providing genetic counselling

What is the genetic counselor to population ratio in the Philippines?

1:16

What is the clinical geneticist to population ratio in the Philippines?

1:10,930,000

TRUE OR FALSE: There is an increasing demand for genetic counseling services in the country due to the expansion of the Philippine Newborn Screening Program and various public health genetics program.

TRUE

TRUE OR FALSE: It is the genetic counselor’s role to take patient and family medical history taking.

TRUE

TRUE OR FALSE: It is the nurse’s role to interpret family and medical histories.

FALSE; genetic counselor

TRUE OR FALSE: It is the nurse’s role to assess risk and conduct counselling.

FALSE; genetic counselor

TRUE OR FALSE: It is the genetic counselor’s role to promote informed choices and adaptation to the risk or condition

TRUE

TRUE OR FALSE: It is the genetic counselor’s role to provision psychosocial support to patients and family members.

TRUE

TRUE OR FALSE: genetic counseling services are primarily available in government secondary level facilities but there are plans to improve access to genetic counseling services in the periphery through the continuity clinics attached to the National Newborn Screening Program.

FALSE; government tertiary facilities

MS Genetic Counseling

a 2 year degree program that prepares students to become competent genetic counselors

TRUE OR FALSE: Graduates of MS Genetic Counseling are expected to manage patient registries.

TRUE

TRUE OR FALSE: Graduates of MS Genetic Counseling are expected to organize and mobilize patients to form support groups.

TRUE

TRUE OR FALSE: Graduates of MS Genetic Counseling are expected to serve as educators to other health professionals.

TRUE

TRUE OR FALSE: Graduates of MS Genetic Counseling are expected to participate and lead in research studies, and manage genetic services programs.

TRUE

TRUE OR FALSE: Graduates of MS Genetic Counseling are expected to participate in the formulation of clinical genetic counseling practice guidelines.

TRUE

TRUE OR FALSE: It is the nurse’s role to provide education.

TRUE

TRUE OR FALSE: It is the nurse’s role to assess risk and explain test results.

TRUE

TRUE OR FALSE: It is the nurse’s role to give support and advocate.

TRUE

TRUE OR FALSE: It is the nurse’s role to facilitate decision making.

TRUE

Assessment of Nurses

• detailed family history (preferably 3 generations

• physical examination on parents and affected child

  • referral to the multidisciplinary healthcare team

Nursing diagnosis

• Decisional conflict related to testing for an untreatable genetic disorder

• Fear related to outcome of genetic screening test

• Situation low self-esteem related to inheritance pattern of the family’s inherited disorder

• Knowledge deficit related to inheritance pattern of the family’s inherited disorder

• Health-seeking behaviors related to potential for genetic transmission of disease

• Altered sexuality pattern related to fear of conceiving child with genetic disorder

Nursing intervention

• management of signs and symptoms specific to the disease

• health education

  • counseling and support

TRUE OR FALSE: Assessing for supportive needs of parents is a way of providing psychosocial support.

TRUE

TRUE OR FALSE: Listening to the client/s and asking them to open up is a way of providing psychosocial support.

FALSE; listen without compelling them to talk

TRUE OR FALSE: Comforting them and acknowledging concerns are ways of providing psychosocial support.

TRUE

TRUE OR FALSE: Helping clients to obtain further information by giving educational and reputable sources are ways of providing psychosocial support.

TRUE

TRUE OR FALSE: Referring clients to appropriate specialty as needed is a way of providing psychosocial support.

TRUE

Support groups

a group of people with common experiences and concerns who provide emotional and moral support for one another.

Support groups

inform, educate, engage in advocacy

Self-help support group

fully organized and managed by volunteers and have personal experience in the subject of the group’s focus

Professionally operated support groups

facilitated by professionals who most often do not share the problems of the members

Advocacy groups

do not share the same issues but wanted to advocate or promote the issues by concerned groups

Functions of support groups

• provide on-going support

• help in time of crisis

• reinforce positive coping mechanisms

• help focus anger nd use its energy in positive ways

• give an opportunity to relieve loneliness and form new friendships

Educational support

• share information, ideas, and resources with fellow parents, between families, health care providers

• provide training for parents to increase skills

• help in dealing with educational, medical, and other service agencies

Social support

• promote social interaction

• reduce or eliminate stigmatization

• opportunity to network with other support groups, advocacy groups, foundations for financial assistance

• empowerment

Research support

encourage research

Support

○ Patient differ in the type and amount of support that they need

■ Providing additional resources (both educational, and

supportive)

○ Extend genuine help where they need it

○ Encourage and respond to the patient’s emotional needs

○ Patient autonomy must be respected

○ Recognize that patients are resilient

○ Use of patient-centered language

Empowerment

○ Occurs when individuals maximize their ability to function and

develop their inner strength

○ This goal is achieved in part by:

■ Discussion what patients wish to discuss

■ Respecting patients’ points of view, and

■ Enabling informed actions and decisions