Capella University
NURS-FPX6203: Theory Development in Nursing
Professor Name
October 2024
Genetics Lab
Genetics lab testing is a subject that deals with the testing of internal cell material to discover possible hereditary characteristics and hereditary diseases. It is used in healthcare to analyze DNA, chromosomes, and proteins for disease risk profiling, to identify genetic disorders, and to customize treatment (Hoencamp& Rowland, 2023). Based on clinical experience, Genetic laboratories often carry out karyotypwhichhat are complete sets of chromosomes to diagnose persons with structural chromosomal defects that are inherited. First of all, the present lesson on genetic lab work helps students comprehend how inheritance works, aids in state-sponsored family planning, and assists in developing intervention programs.
Chances of Individual Inheriting the Autosomal Trait
Autosomic traits are those that are situated on the autosomes; this means that anyone can pass them to his/her offspring irrespective of his/her sex. These are determined by a single allele therefore if one parent is affected the child has a 50% chance of being affected too (Tang et al., 2022). On the other hand, the autosomal recessive alleles are those which require a person to inherit two alleles one each from the two parents to show the phenotypic expression and hence will result in 25 percent if both parents are themselves carriers (Su et al., 2020). This understanding is useful for determining empiric genetic probabilities and counseling patients/consumers about the possibility of inheriting, or transmitting, specific genetic traits.
Gender of Second Patient in a Lab Scenario
In the given case of the genetic lab, the gender of the second patient can be obtained from the consideration of the sex chromosome by karyotyping. Usually, a person with XX chromosomes is female while a person with XY chromosomes is male (Lin et al., 2023). The patient’s gender is then verified from such particular chromosomes observed under the microscope in line with genetic markers which assists in the correct identification of probable sex-linked inherited diseases.
Result of Karyotype
The karyotype analysis gave such specific chromosome patterns as, for example, ‘trisomy 21, Down syndrome’ or XY pattern, male patient, no identifiable chromosomal pathology observed’ (Alhatim et al., 2023). The results from Karyotyping help determine chromosomal abnormities that may cause hereditary diseases or developmental problems. For example, having one extra chromosome 21 causes Down syndrome, while other special patterns might imply Turner syndrome or Klinefelter syndrome.
Genetic Counselor Explanation
A genetic counselor must explain the outcomes of the karyotyping test and advise the clients concerning the genetic report (Ruiz et al., 2022). They define what the implications of identified anomalies are, how the genetics of an illness or trait are inherited, and what health risks could result from the occurrence of related characteristics. In this case, the counselor would explain whether such disorders can be inherited, talk about the options available as far as reproduction is concerned, and clarify the probability of the condition being passed on to the offspring (Gokhman, 2022). They also provide a patient advocate and supply patients and families with the necessary tools to understand the meaning of the genetics evaluation.
Positive and Negative Ramifications of Genetic Testing
Positive Ramifications
By identifying the genes, one can know what inborn characteristics s/he has and what diseases s/he is likely to get allowing for pre-action (Ruiz et al., 2022). It provides anticipatory guidance, timely intervention, and healthcare planning for childbearing-aged women; provides clear information or gives those with possible negative outcomes competent options for prevention.
Negative Ramifications
Nevertheless, genetic testing also has its downside, such as psychological harm resulting from the knowledge of having or getting a gene linked to other diseases (Ruiz et al., 2022). Civil liberties may be an issue including employment repercussions or insurance pretense, which persuades the patients to avoid testing. Moreover, such tests might create some familial tension or ethical concerns while explaining potential genetic risks within the families.
Impact of Positive and Negative Ramifications
The consequences of the testing are psychological and interpersonal, as well as practical and organizational, carried through the prism of genetically inherited disorders (Gokhman, 2022). It appears that positive consequences promote preventative health and can lessen anxiety by increasing risk clarity. But the negative consequences can be profound affecting the state of mind, possibly resulting in anxiety and, or depression, family relationships included (Raymond et al., 2024). Additionally, where questions of genetic data privacy and discrimination come to the public light they can encourage people to shy away from getting tested, thereby reducing the rate of overall population awareness of the issues and most importantly the improved advancement of genetic research.
BIO FPX 1000 Assessment 5 Conclusion
The genetics lab and genetic testing are integral components used for diagnosing people’s inherited characteristics and giving relevant suggestions regarding their health. Perusing, chromosome analysis average ‘’karyotyping’’ allows medical practitioners to diagnose diseases and estimate hereditary tendencies in humans (Raymond et al., 2024). Although the genetic testing disease diagnostic tool provides deep benefits such as early detection and treatment, it has some ethical, psychological, and social impacts. Achieving these impacts through proper counseling and protection of patients ‘rights is crucial in addressing the usage of individuals’ info.
BIO FPX 1000 Assessment 5 References
Alhatim, H., Abdullah, M. N. H., Abu Bakar, S., & Amer, S. A. (2023). Effect of carcinomas on autosomal trait screening: A review article. Current Issues in Molecular Biology, 45(9), 7275–7285. https://doi.org/10.3390/cimb45090460
Gokhman V. E. (2022). Comparative karyotype analysis of parasitoid Hymenoptera (Insecta): major approaches, techniques, and results. Genes, 13(5), 751. https://doi.org/10.3390/genes13050751
Hoencamp, C., & Rowland, B. D. (2023). Genome control by SMC complexes. Nature Reviews. Molecular Cell Biology, 24(9), 633–650. https://doi.org/10.1038/s41580-023-00609-8
Lin, Y. F., Hu, Q., Mazzagatti, A., Valle-Inclán, J. E., Maurais, E. G., Dahiya, R., Guyer, A., Sanders, J. T., Engel, J. L., Nguyen, G., Bronder, D., Bakhoum, S. F., Cortés-Ciriano, I., & Ly, P. (2023). Mitotic clustering of pulverized chromosomes from micronuclei. Nature, 618(7967), 1041–1048. https://doi.org/10.1038/s41586-023-05974-0
Ruiz, C., Hernandez, C., Vives, M., Marí, S., Quintela, I., Mason, D., Cadiou, S., Casas, M., Andrusaityte, S., Gutzkow, K. B., Vafeiadi, M., Wright, J., Lepeule, J., Grazuleviciene, R., Chatzi, L., Carracedo, Á., Estivill, X., Marti, E., Escaramís, G., Vrijheid, M., … Bustamante, M. (2022). Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood. ELife, 11, e65310. https://doi.org/10.7554/eLife.65310
Raymond, Y., Fernando, S., Menezes, M., Mol, B. W., McLennan, A., da Silva Costa, F., Hardy, T., & Rolnik, D. L. (2024). Placental, maternal, fetal, and technical origins of false-positive cell-free DNA screening results. American Journal of Obstetrics and Gynecology, 230(4), 381–389. https://doi.org/10.1016/j.ajog.2023.11.1240
Su, J. H., Zheng, P., Kinrot, S. S., Bintu, B., & Zhuang, X. (2020). Genome-scale imaging of the 3d organization and transcriptional activity of chromatin. Cell, 182(6), 1641–1659.e26. https://doi.org/10.1016/j.cell.2020.07.032
Tang, S., Stokasimov, E., Cui, Y., & Pellman, D. (2022). Breakage of cytoplasmic chromosomes by pathological DNA base excision repair. Nature, 606(7916), 930–936. https://doi.org/10.1038/s41586-022-04767-1
