Application of Genetics in Nursing Practice

As per B.Sc(N) Syllabus

1. Applications Of Genetics In Nursing Practice

2. Genetics- Glossary “ Genetics is that branch of biological sciences which deals with the transmission of characteristics from parent to off spring .” “Genetics is the field of science that examines how traits are passed from one generation to the next; Blueprint of life .”

3. Allele : An alternative form of a gene that occurs at the same locus on homologous chromosomes, e.g.,  A ,  B , and  O  genes are alleles. Amorph : A silent gene that does not produce a detectable product (antigen), e.g.,  O  genes in the ABO BGS. Autosome : A non-sex chromosome. Synonymous with  somatic chromosomes  (chromosome pairs 1-22 ). Chromosome : Rod-shaped structures within the cell nucleus that carry genes encoded by DNA . Codon : A sequence of three bases in DNA or RNA that codes for a single amino acid. Enables specific proteins to be made by specific genes.

4. Consanguinity : Having a common ancestor, i.e., being blood relatives. Mating between two first cousins. Deletion : An abnormality in which part of a chromosome (carrying genetic material) is lost . DNA : Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the genes that allow genetic information to be passed to offspring . DNA polymerases : Enzymes that can synthesize new DNA strands using previously synthesized DNA (or RNA) as a template. Dominant gene : A gene is dominant if it is expressed when heterozygous but its allele is not

5. Gamete : A reproductive sex cell (ovum or sperm) with the haploid number (23) of chromosomes that results from meiosis. Gene : A segment of a DNA molecule that codes for the synthesis of a single polypeptide . Genome : Term used to denote the entire DNA sequence (gene content) of a gamete, person, population, or species. Genotype : All of the alleles present at the locus (or closely linked loci) of a blood group system, indicating chromosomal alignment if appropriate Haploid number  of chromosomes: The number of chromosomes found in sex cells, which in humans is 23.

6. Human Genome Project : A worldwide project to map and sequence the human genome. The ultimate goal is to produce the complete nucleotide sequence of every human chromosome. Meiosis : The type of cell division that occurs in sex cells by which gametes having the haploid number of chromosomes are produced from diploid cells. Messenger RNA ( mRNA) : Type of RNA polymerase using DNA as a template. Contains the codons that encompass the genetic codes to be translated into protein. Mitosis : Cell division that results in the formation of two cells, each with the same number of chromosomes as the parent cells, i.e., cell division that forms all new cells except sex cells.

7. Mutation : A permanent inheritable change in a single gene (point mutation) that results in the existence of two or more alleles occurring Phenotype : The antigens (traits) that result from those genes that are directly expressed (can be directly antigen typed), at the same locus . Polypeptides : Polymers of amino acids that form the building blocks of proteins . Recombinant DNA : In molecular genetics, artificially made DNA composed of fragments of DNA from different chromosomes (often from different species) that have been joined together (spliced) by genetic engineering.

8. Transcription : Synthesis of single-stranded RNA by RNA polymerase using DNA as a template Translation : The process of translating the codon sequence in mRNA into polypeptides with the help of tRNA and ribosomes. X-chromosome : The sex chromosome present in double dose in females (XX) and in single dose in males (XY). X-linked : Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and Xg a  blood group genes. Y-chromosome : The sex chromosome present only in males (XY).

9. Practical Application of Genetics in Nursing All nurses have role in the delivery of genetic services & management of genetic information. Nurses require genetic knowledge to identify, support, refer & care for persons affected by or risk for genetic disorders . Nurses can offer care that protects patients & families from the risk associated with genetic information, including addressing family issues. Nurses are also needed to refer patients to genetic specialist & assist in making choice of genetic health care.

10. Genetic Nursing includes the following Client & family assessment to identify genetic risk factors. ( Eg : detailed family history & construct a pedigree) Planning & implementation of care during diagnosis & management of genetic disorders. Information , counseling & support services to persons affected by or at risk for genetic disorders. Meeting referral needs Long term follow up.

11. Major Practical Applications of Genetic in Nursing Understands genetic basis of disease Early diagnosis of genetic disorders. Contributes towards health promotion with genetic aspects Prevention of genetic conditions Management and care in genetic disorders Genetic information & counseling . Referral services Social & ethical issues in genetics

12. 1. Understands genetic basis of disease With knowledge of genetics, nurses will understand that large proportion of total disease have genetic basis. In addition will learn about: Role of genes in causation of genetic disorders & defects. Normal & abnormal cell division & its genetic regulation. Mechanism of disease inheritance from generation to next generation. Genetic factors are playing role in an individual’s health. Basic mechanisms of inheritance & transmission of chromosomes & genes,

13. 2. Early & effective diagnosis of genetic disorders Genetic knowledge of nurses will equip them with; Information about genetic risk, genetic testing & the implications. Interpretation of the results of genetic tests. Awareness of the possibility of an inherited or genetic component for a client condition and knowledge of cardinal features of familial predisposition

14. 3. Contributes towards health promotion with genetic aspects Learning about genetics nurses will enhance their understanding about: H ow genetics &environment interacts with individual difference. Healthy prenatal environment will ensure minimal risk of genetic defects among newborns. Environmental interaction of an individual is an important factor in reference to gene or chromosomal mutation, which may have positive or negative impact on health of an individual.

15. 4. Prevention of Genetic Condition Several genetic disorders can be prevented with prompt & early diagnosis & treatment. For example, phenylketonuria (PKU) related mental retardation could be prevented with early newborn screening & diagnosis & diet management. The genetic disorders can be prevented by selected interventions.

16. 5. Management & care in genetic disorders Knowledge of genetics will empower the nurses to manage & care for patients with genetic disorders in their routine health care practice by building up their understanding about; Genetic approaches to the therapy of genetic & complex diseases. Care management of adults with childhood genetic disorders Care management of persons with adult genetic disorders such as Huntington disease. Ways in which genetic knowledge is used in diagnosis & treatment application

17. 6. Genetic I nformation & C ounseling Development of non-judgmental attitudes about genetic disorders . What information needs to be collected before providing genetic counseling . Role of a nurse in delivering genetic counseling . Application of traditional nursing skills such as patient education, confidentiality, & counseling about genetic information. The concept of non-directive counseling can be included.

18. 7. Referral Services In developing countries, there is less awareness about genetic disorders & Genetic health care facilities. Nurses are the primary health care providers who can direct them to right place for their diagnosis & management . So that, genetic information will equip nurses to provide effective referral services to the clients .

19. 8. Social & Ethical Issues in Genetics There are several social & ethical issues, which play important role in care of patients with genetic disorders. Therefore , study of genetics will make nurses to build; An awareness of social, legal, & ethical issues related to genetics, including effects on individuals, groups and societies , some of which are unique to genetic conditions.

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