GENOMICS AND GENETICS
Inmany literatures genomics and genetics are used interchangeably.Despite being interrelated in studies and research as well as theapplications, genetics and genomics are very different. However,advanced scientific knowledge is required to differentiate betweenthe two terms exclusively. The shallow definition of genetic is thestudy of inheritance. This refers to the study of how traits arepassed from parents to the next generation. Thus, a deeper definitionof genetics is the study of genes. Genes refers to the units ofinheritance or heredity. They carry genetic information whichincludes instruction for making other proteins in the body. They arealso responsible for controlling cells in a living organism(Strachan, 2014).
Onthe other hand, genomics refers to the study of the genome. Somescientist refers to genomics as a discipline within genetics studies.Genome refers to all the genes in an individual. Genomics looks athow different genes within an individual interact with each other andother factors such the environment or a foreign gene. While geneticshelps in understanding how diseases such Huntington’s disease,phenylketonuria and cystic fibrosis among other diseases, as well asother individual traits are passed on from one generation to the nextgeneration, genomics opens new application of genes and geneticinformation (Strachan, 2014).
Despitethe numerous breakthroughs and overwhelming evidence in the recentpast, it is important to note that the application of genomics andgenetics in medicine and public health is largely a promise. However,this does not mean that genomics and genetic studies do notcontribute to the medicine and public health (Strachan, 2014).Although nursing professionals are not directly involved in advancedresearch and development in genetics and genomics, they have a hugerole to play in the application of the technologies.
Nursesare primary health care providers. Any advancement in medicaltechnology has a direct impact on nursing and the role of nurses inthe provision of health care services. As the application of geneticand genomic technologies in the provision of health care servicesbecomes more realistic, it has huge implications in nursing,especially in critical nursing care. These new technologies haveimplications on the ability of nurses to provide care and administermedications. There are an increased number of diseases, especiallychronic diseases whose sources are associated with geneticcharacteristics. Coincidentally, these conditions are the mostsignificant diseases that nursing professionals deal with in theirroutine duties (Howington et al, 2011). As a result of thesignificance of genetics and genomics in nursing, nursingprofessional organizations such as the American Nursing Associationhave developed genetic and genomic competences for nurses. Thesestandards are not intended to replace professional guidelines thatgovern nurses, but aims at improving the quality of health careservices offered by the professionals using emerging medicaltechnologies. The competencies are developed based in evidence basedresearch in genetic competences and recommendations. The competencesalso puts into consideration public opinions and comments as well asinputs from nursing professional forums. Although there are many as38 genetic and genomic competencies for nursing, some of the mostimportant competences include risk management, genetic counseling andeducation, ethical and legal implications, role of professionalnurses and leadership (Howington et al, 2011).
Thereare several breakthroughs towards application of genomic and genetictechnology in medicine. Over the years, genome and genetic medicinehas experienced rapid transformation especially due to increased DNAsequencing capabilities. Today, whole genome sequencing can be doneat a reasonable cost in a relatively small laboratory. Low costanalysis is an important step towards application of genomic andgenetic technologies in medicine and public health. This is becauseit enables faster analysis of genetic determinants of inheritedmedical conditions. For example, intergenerational mutation rate andassociated genetic disorders can be analyzed easily resulting intoincreased public health outcomes (Auffray et al, 2011).
Althoughmany promises of genomic and genetic technologies have been realizedthrough recent breakthroughs, the gap for new discoveries remainswide. Genome technologies can be applied in prevention of diseases,development of the next generation drugs, diagnosis and screening andmost important, identifying factors that predispose individuals toparticular diseases (Auffray, 2011). Personalized health care thatuses genetic technology is based on the idea that genetic informationabout a patient can be used in the prevention and treatment of adisease. There are several examples of breakthrough in which geneticvariation has been used in guiding the most appropriate drug ortreatment model resulting into enhanced outcome (Auffray, 2011).Although new clinical application of the technology continues toemerge, the next generation genomic and genetic technology continuesto emerge. These technologies make it possible for simultaneoussequencing to identify multiple diseases genes and exome. The nearperfect capability of these technologies increases their clinicalapplications and disperses the moral and ethical issues associatedwith adoption of new technologies. These technologies enable thestudy of the entire genome of an individual and identify the geneticpredisposition of an individual to particular diseases and the likelyresponse to treatment model (Veltman & Lupski, 2015).
Amongthe most important application of this technology has been genetherapy where genetic drug is inserted into the patient’s cells.However, it is important to note that scientists have been aware ofthe potentials of genetic technologies in medicine since 1970s.However, due to the complicated clinical trials processes and pastchallenges, especially failures in major projects, the uptake of thetechnology has been slow. Although gene therapy has been applied inthe treatment of certain cancers and serious diseases such asepilepsy, it is still considered to be an experimental clinicaltechnique. However, the most contribution of genomic and genetictechnologies has been generational sequencing which enhances theunderstanding of genetic characteristics associated with particularmedical conditions (Sheridan, 2011).
Whilethe modern society adopt new and revolutionary technologies such asapplication of genetics and genomes in the management of publichealth, social cultural factors are very critical in the adoption oftechnologies that have direct impacts on personal space. It isimportant to note that the secular world is changing rapidlyresulting into changes in the principles and philosophies that guidethe secular world. This is missing in mainstream religions. Religionand culture are important aspects of the society that cannot beignored. Just like public health, religion and cultural values arecritical aspects of the society. However, religion is guided byunchanging and infallible values and principles, while existing in adynamic society. On the other hand, cultural values and norms arelikely to change with time. As a result, major changes in key aspectsof life, such as health are associated with strong ethical and moralconcerns. It is therefore important to look at the religion andcultural perspectives of application of genomics and genetics inmedicine and public health (Strachan, 2014).
Dueto the linkage between health, culture and religious beliefs andvalues, the adoption of genomic and genetics technologies in publichealth can be adversely affected by failure to address moral andethical concerns. The basic questions that need to be adequatelyanswered include what concerns have been raised by religion groupsand major cultures in relation to genetic and genomic technologies.Additionally, where individuals responsible for the delivery of thetechnology understands these issues and responds to themappropriately is critical. Although genomic and genetic technologiesare applied in largely modernized society with limited influence ofoutdated cultural values and principles related to health care, thesesocieties are relatively religious. It is estimated that eight out often Americans identify with a particular religious group. Studiesindicate that more that half of Americans believe in spiritualaspects of health and thus pray for good health and healing.Therefore, religion influences the public perception about geneticsand genomics application in human health (Strachan, 2014).
Themost significant religious views in the western society, whichaffects the application of genetic and genomic breakthroughs isChristianity. Liberal Christians, who are arguably the majority, isin favor of some of these technologies. They argue that being thestewards and custodians of Gods creation on earth, there is a need toexpand knowledge on what God created. In addition to making humanbeing better stewards, the knowledge enables them improve theirhealth. However, conservative Christians have been opposed toapplication of some modern technologies in human health. For example,they have argued that creating creatures that did not exist beforechallenges God as the only creator. Although not all genetictechnologies have attracted religion controversies, there are generalreservations (Joseph et al, 2010).
Inconclusion, genomics and genetics are used interchangeable inliteratures, despite them having different meaning. As the technologyapplication in medicine and public health become more realistic,nurses have a huge responsibility in ensuring their patient benefitfrom this revolutionary technology. Additionally, there are essentialcompetences in genetics and genomics that are necessary for allnursing professionals. This is in addition to important cultural andreligious factors that are likely to have significant impacts on theadoption of the technology.
Auffray,C. et al (2011). “Genome medicine: past, present and future”,GenomeMedicine3(6).
HowingtonL., Riddlesperger K. & Cheek D.J. (2011). “Essential nursingcompetencies for genetics and genomics: implications for criticalcare”. CriticalCare Nurse.31(5):e1-7.
JosephB. et al (2010). Introduction: Religious and Spiritual Issues inMedical Genetics, AmJ Med Genet C Semin Med Genet.151C(1):1–5.
SheridanC (2011). "Gene therapy finds its niche". NatureBiotechnology29 (2): 121–128.
Strachan,T. (2014). Geneticsand Genomics in Medicine,New York, NY: Taylor & Francis.
Veltman,J. & Lupski, J. (2015). “From genes to genomes in the clinic”,GenomeMedicine.7:78.