Introduction
The Human Genome Project marked a monumental milestone In the genetics and genomics sectors, catalyzing significant advancement in healthcare provision. The Human Genome projects, completed in 2003, involved sequencing the entered human genome to uncover the treasure troves of genetic information (Gibbs, 2020). The projects revolutionize our understanding of disease, susceptibility, and treatment modalities. The project, led by an international group of researchers, generated the first sequence of the human genome, which provided helpful information about the human blueprint. The paper explores the profound importance of genetics and genomics competes with nursing and health professional practice. Reflecting on my baseline knowledge, I can trace some valuable skills and knowledge from his course. Posing a fundamental understanding of genetics, I recognize the significance of genetics in patient care. One instance that stands out is a case involving a patient with a family of cardiovascular diseases. Recognizing the importance of genetics helps me discuss the genetic predisposition with the patient and encourage them to undergo genetic testing to assess the risk factors. Having the knowledge and skill related to genetics and genomics help healthcare providers recognize their potential to revolutionize patient care strategies.
Importance of Genetics and Genomics Competencies in Nursing and Health Professional Practice
Genetics and genomics have emerged as the base of the landscape for nursing and healthcare professional practice; it has transformed how patient care is approached and delivered in different healthcare facilities. The intricate relationship between genetic makeup, disease susceptibility, And treatment responses has emphasized the importance of integrating genetics and genomics competencies into healthcare settings (Calzone, 2010). Equipping healthcare professional with an inessive understanding of the concepts help improved patient care; the care becomes more personalized, informed, ad effective.
As the primary contact for patients, nurses and health professionals play a vital role in applying genomic knowledge in healthcare settings. They identify the at-risk individual by completing a three-generation family history assessment (Camak, 2016). They also direct the genetic consultation to manage the patient’s condition further. Many healthcare providers may educate the patient on risk management, benefits and risk of genetic testing to ensure a smooth assessment (Calzone, 2010). Consider a scenario where a patient presents with a complex medical history, for instance, a family history of cancer. A health professional adept in genetics and genomics would be equipped to perform an extensive patient assessment. The assessment will involve genetics testing and identifying potential genetic mutations related to hereditary cancer syndromes. Knowing genome and genetics not only aids in determining the patient’s susceptibility to specific cancer but also enables the provision of tailored screening and prevention strategies for the patient.
In the genetics and genomic sector, two prominent professional organizations stand out in creating genetics competencies specifically for health professionals. They include the National Society of Genetic Counselors (NSGC) and the America Nurses Association (ANA). The spread of genetic test utilization in healthcare practice raised the need for competencies in healthcare professionals about genetic services. The NSGC formulated comprehensive genetics competencies that involve a range of healthcare professionals; it emphasizes the significance of genetics education and collaboration (Resta, 2006). On the other hand, ANA established genetic and genomics nursing competencies, which recognize the pivotal role of nurses in integrating genetic knowledge into patient care (Jenkins, 2007). The two organizations have helped control genetic testing in different healthcare facilities. Setting up seminars and collaborating with these organizations help provide comprehensive and up-to-date insights. Utilizing online platforms and newsletters will catalyze information sharing and foster a culture of continuous learning and innovation among healthcare professionals.
Basic Genetic and Genomic Terms
| Term | Definition | The definition used to educate |
| i. Allele | “An allele is one of two or more versions of DNA sequence (a single base or a segment of bases) at a given genomic location. An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists” (NHGRI, 2023). | An allele is a version of a gene. It is one of the two or more gene variations you receive from your parents. It is like having different colours for the same item. |
| ii. Autosomes | “An autosome is one of the numbered chromosomes, as opposed to the sex chromosomes. Humans have 22 pairs of autosomes and one pair of sex chromosomes (XX or XY)” (NHGRI, 2023). | An easier way to understand this is that autosomes are all of the chromosomes in the human body aside from the two sex chromosomes. |
| iii. Carrier | “A carrier, as related to genetics, is an individual who “carries” and can pass on to its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal recessive or sex-linked manner, and who does not show symptoms of that disease” (NHGRI, 2023). | A genetic disease carrier carries a variation in their DNA that can be inherited and cause a disease or trait, even though they may not show any symptoms. They act as a carrier of the trait and can pass it on to their offspring. |
| iv. Chromosome | “Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell” (NHGRI, 2023). | Chromosomes are the packages of genetic information in a cell. They are made up of DNA molecules containing genetic instructions that control how the cell and organism grow and develop. |
| v. DNA
vi. |
“Deoxyribonucleic acid (abbreviated DNA) is the molecule that carries genetic information for the development and functioning of an organism” (NHGRI, 2023). | DNA is a molecule that contains genetic information about the development and functioning of the organism. |
| vii. Epigenetics | “Epigenetics (also sometimes called epigenomics) is a field of study focused on changes in DNA that do not involve alterations to the underlying sequence” (NHGRI, 2023). | Study on the changes in DNA |
| viii. Gene | “The gene is considered the basic unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify physical and biological traits” (Kanehisa, 2000). | Genes are characters and components passed from parents to offspring |
| ix. Genetics | “Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors” (NHGRI, 2023). | A branch of Biology that is focused on the study of genome and genetics |
| x. Genetic testing | “Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of medical care, ancestry studies or forensics” (NHGRI, 2023). | Testing individual’s DNA for variations in the laboratory |
| xi. Karyotype | “A karyotype is an individual’s complete set of chromosomes. The term also refers to a laboratory-produced image of a person’s chromosomes isolated from an individual cell and arranged in numerical order” (NHGRI, 2023). | It is the complete set of chromosomes in an individual |
| xii. Meiosis | “Meiosis is a type of cell division in sexually reproducing organisms” (NHGRI, 2023). | Division of cells in sexually reproducing organisms |
| xiii. Phenotype | “Phenotype refers to an individual’s observable traits, such as height, eye color and blood type” (NHGRI, 2023). | Observable trait in an individual. |
| xiv. RNA | “Ribonucleic acid (abbreviated RNA) is a nucleic acid present in all living cells that has structural similarities to DNA. Unlike DNA, however, RNA is most often single-stranded” (NHGRI, 2023). | It is a molecule similar to DNA but has one strand |
| xv. Sex chromosomes | “A sex chromosome is a type of chromosome involved in sex determination. Humans and most other mammals have two sex chromosomes, X and Y, that in combination determine the sex of an individual. Females have two X chromosomes in their cells, while males have one X and one Y” (Kanehisa, 2000) | A sex chromosome is used in sex determination. Humans have two chromosomes that are the X and Y chromosome. |
| xvi. Single nucleotide polymorphism (SNP) | “A single nucleotide polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA” (NHGRI, 2023). | A single nucleotide polymorphism (SNP) is a small change in a DNA sequence that occurs in some people rather than others. |
| xvii. Trisomy 21 | “Trisomy 21 is a genetic condition caused by an extra chromosome. Most babies inherit 23 chromosomes from each parent, for a total of 46 chromosomes” (Kanehisa, 2000). | Trisomy 21 is a medical condition resulting from an extra copy of chromosome 21, part of a person’s genetic makeup. This extra chromosome causes a range of physical and intellectual disabilities. |
Gene Expression – Patterns of Inheritance
Gene expression and inheritance patterns are fundamental concepts in genetics that influence the transmission of traits and diseases across generations. Gene expression is the process by which information from a gene is used to create a functional gene product, such as a protein (Gibney, 2010). The patterns of inheritance dictate how traits and genetic conditions are passed from parents to offspring. Understanding these patterns helps healthcare professionals provide accurate genetic counselling, risk assessment, and patient care. The inheritance patterns include Autosomal Dominant, Autosomal recessive, X-Linked dominant, X-Linked Recessive, and Multifactorial (Gibney, 2010). Autosomal dominant inheritance occurs when a single copy mutated gene from one parent causes a trait disorder. The offspring have a 50% chance of inheriting the mutated allele from the parents. Autosomal recessive inheritance requires two copies of the mutated gene to express the trait; the gene comes from each parent. A mutated gene on the X chromosomes describes an X-Linked dominant inheritance. A single copy of the mutated allele in females or males leads to the expression of the trait. In X-linked dominant, males are commonly affected due to their single x chromosomes. The last inheritance pattern is the multifactorial inheritance involving multiple genetic and environmental factors. The traits result from a combination of genetic predisposition ad external influences.
The probability of passing Ona specifically depends on the inheritance pattern. The Autosomal dominant and X-Linked dominant conditions have a 50% chance of being passed to offspring if parents are affected. On the other hand, the Autosomal and X-Linked recessive require both parents to be carriers; it has a 25% chance of passion on the condition. An example of autosomal recessive inheritance of cystic fibrosis. If both parents are carriers, each child they have has a 25% chance of inheriting two mutated alleles with cystic fibrosis.
Ethical, Social, and Legal Issues
Integrating genetics and genomics in healthcare presents issues from various sectors, starting from ethical, social, and legal issues. The Genetic Information Nondiscrimination Act (GINA) is a crucial legal safeguard. Gina was enacted in 2008 in The US to prohibit health insurers and employers from using genetic information to discriminate against individuals (Feldman, 2012). GINA protects individuals from discrimination such as coverage, premium rates, and employment decision. It prohibits the requesting, requiring, and purchasing genetic information in employment. The Act protects individuals and families from genetic discrimination and promotes the responsible use of genetic information in healthcare settings and beyond.
Direct-to-Consumer (DTC) genetic testing involves involves individuals accessing genetic information to test and interpret their genetic information without involving the healthcare provider. The approach empowers the individual’s insight into their genetic predisposition for diseases, helping facilitate proactive health management. DTC testing aid in identifying genealogy and ancestry, contributing to a greater understanding of one’s heritage (Allyse, 2018). One potential risk related to DTC is a misinterpretation of the results. Due to a lack of professional guidance, the individual may misinterpret the result leading to unnecessary anxiety and inappropriate decision-making. It is essential to underscore the importance of informed decision-making and ethical consideration regarding genetics, genome, and healthcare provision.
Conclusion
The paper explored the critical role of genetics and genomics competencies in nursing and health professional practice. It is essential to acknowledge the transformative impact of the human genome project in health care; it underscores the importance of genetics and genomics in understanding diseases and treatment. The concept of genetics and genomics competencies was highlighted, emphasizing the significance of integrating these competencies into the education and practice of healthcare professionals. The Genetic Information Nondiscrimination Act (GINA) emerged as a legal safeguard against genetic discrimination, ensuring patient protection, albeit with some limitations. Additionally, direct-to-consumer (DTC) genetic testing was discussed, highlighting its benefits in empowering individuals and addressing potential risks. Genetics and genomics have transformed healthcare into a more personalized and informed discipline. This information will be a foundation for fostering discussions among healthcare professionals and patients.
References
Allyse, M. A., Robinson, D. H., Ferber, M. J., & Sharp, R. R. (2018, January). Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing. In Mayo clinic proceedings (Vol. 93, No. 1, pp. 113-120). Elsevier.
Calzone, K. A., Cashion, A., Feetham, S., Jenkins, J., Prows, C. A., Williams, J. K., & Wung, S. F. (2010). Nurses transforming health care using genetics and genomics. Nursing outlook, 58(1), 26-35.
Camak, D. J. (2016). Increasing importance of genetics in nursing. Nurse Education Today, 44, 86-91.
Feldman, E. A. (2012). The Genetic Information Nondiscrimination Act (GINA): public policy and medical practice in the age of personalized medicine. Journal of general internal medicine, 27, 743-746.
Gibbs, R. A. (2020). The human genome project changed everything. Nature Reviews Genetics, 21(10), 575-576.
Gibney, E. R., & Nolan, C. M. (2010). Epigenetics and gene expression. Heredity, 105(1), 4-13.
Jenkins, J., & Calzone, K. A. (2007). Establishing the essential nursing competencies for genetics and genomics. Journal of Nursing Scholarship, 39(1), 10-16.
Kanehisa, M., & Goto, S. (2000). KEGG: kyoto encyclopedia of genes and genomes. Nucleic acids research, 28(1), 27-30.
NHGRI. (2023). Talking glossary of genomic and genetic terms. Talking Glossary of Genetic Terms | National Human Genome Research Institute. https://www.genome.gov/genetics-glossary#D. accessed on 20th August, 2023.
Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Estabrooks Hahn, S., Strecker, M. N., & Williams, J. L. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of genetic counseling, 15, 77-83.
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