Client Name
Capella University
BIO-FPX1000: Human Biology
Instructor’s Name
November 2024
Genetics Lab
BIO FPX 1000 Assessment 5 Genetics Lab The genetics laboratory focuses on the study and investigation of chromosomes and genetic conditions. It includes the assessment of hematologic and oncologic diagnosis of the health condition along with prenatal diagnostics and congenital disease investigation (Berisha et al., 2020). The laboratory encourages the collaboration of interdisciplinary teams and experts for the identification of effective healthcare practices necessary to ensure quality care for patients. The mutual opinion of healthcare professionals regarding the enhancement of patient health and response depends on their collective efforts in identifying the best evidence-based practices. This assessmnet defines the inheritance and the changes that occur due to genes along with efficiently explaining the procedure of identifying the gender particularly referred to as genetic procedure. It will also help in assessing the impact of chromosomal abnormalities on the body system and defining the karyotype outcomes. Moreover, it will also address the genetic testing’s pros and cons and its impact on the human body.
Chances of Individuals Inheriting the Autosomal Trait
When the individual inherits two recessive alleles one from each parent it will become the reason for autosomal recessive disease. The probability of the inheritance of the disease for a child depends upon different factors including the one in which each parent has one recessive allele and one normal allele (Hanchard, 2022). In this situation, parents are considered heterozygous carriers where the probability of the children includes 25% for children receiving both disease alleles known as affected children. There is also a 50% chance of inheriting one disease allele and one normal allele referred to as an unaffected carrier. However, there is also a 25% chance of inheriting both normal alleles in which the children are unaffected. This probability of inheriting the allele genes represents Mendel’s Law of Segregation according to which children inherit one allele from each parent. The Punnett Square Model also provides information regarding the probabilities of inheritance according to which there is a 50% chance of inheritance of disease allele from each parent. It has been calculated from the multiplication rule that the overall probability of inheriting both the disease allele is 25%. The Pedigree analysis also provides information and defines patterns about the inheritance of autosomal recessive disease. The reason for disease occurrence is the chromosomes not the gender genes so it can equally impact both males and females. There is one more pattern in which the unaffected carriers can transfer the disease to the children without showing any definite symptoms. It is not necessary that affected people are present in all generations but they can be present in siblings.
The Gender of the Second Patient in the Lab Scenario
Sandra, a 28-year-old pregnant woman having sickle cell disease (SCD) went for a prenatal genetic checkup in her third trimester for the assessment of the possibility of the genetic risks for her baby. Chromosome 11 containing the beta-globin gene shows a single base pair mutation which becomes the reason for sickle cell disease. This disease shows different symptoms in different people suffering from it showing the phenotypic diversity. Some people feel repeated severe pain, a few experience chronic hemolytic anemia which shows the lack of healthy red blood cells and some become more susceptible to infections. SCD is an autosomal recessive disease and it is not affected by gender but according to some studies, the chances of complications for adult men having SCD are greater as compared to women (Ugwu, 2022). They have more chances of early deaths and morbidity indicating the variation of gender.
Results of the Karyotype
Karyotype helps in the analysis of the structure and number of chromosomes present in the cells. The karyotype test involves the identification of chromosomal abnormalities including numerical and structural (Milani & Tadi, 2020). The numerical abnormality identifies Down syndrome termed trisomy 21 and Turner syndrome named monosomy X. The structural abnormalities include translocations, deletions, and duplications. The positive results of the karyotype testing indicate the chromosomal abnormalities showing in number or structure which leads to developmental delays and other health issues. The negative result shows that chromosomes are normal in number and structure showing no genetic disorder.
Genetic Counselor’s Explanation
It has been identified that karyotype testing helps in the identification of chromosomal abnormalities occurring due to genetic mutations on the 11th chromosome (Testing, 2021). This testing does not identify the SCD which requires additional testing including genital and prenatal testing. Both tests are effective in identifying the genital changes that cause SCD to effectively treat the identified problem.
Positive and Negative Ramifications of Genetic Testing
Genetic testing is efficient in diagnosing and treating SCD but it also increases the ethical and practical problems for the healthcare providers. Some of the positive and negative ramifications are given below;
Positive Ramifications
- One of the major advancements in genetic testing is the next-generation sequencing technologies which increases the accuracy and speed of identifying gene mutations.
- The early detection of health issues allows the timely intervention of the healthcare providesr for the improvement in health responses of the patients.
- The diagnosis of the genetic mutation helps healthcare providers in developing treatment and care plans based on individual needs.
Negative Ramifications
- The privacy concern arises regarding the disclosure of diseases to relatives.
- Counseling families regarding the genetic findings in the affected individual raises ethical issues.
- There may arise the issue of giving no importance to the identification of rare health issues due to their high cost and low demand.
- The laboratories’ less interest in the identification of diseases leads to limiting the accessibility of the needed resources.
Impact of Positive and Negative Ramifications
The identification of the problem will help Sandra in taking precautionary measures for the health of the baby and prvenetion of future health issues. It will help her in making effective decisions for effective pregnancy and future family planning. Early detection of the health issue allows for timely intervention of the healthcare providers in treating the problem and maintaining the genetic health status of the fetus (Kiani et al., 2020). The identification of the issue may raise SCD risk for other children of Sandra. The sharing of genetic findings with other relatives increases the privacy risks and raises questions about the responsibility of the healthcare providers.
BIO FPX 1000 Assessment 5 Conclusion
Genetic testing holds great significance in addressing and diagnosing the genetic characteristic of an individual and identifying mutations that leads to various health issues (Mayo Clinic, 2020). Karyotype testing is helpful in the early detection of health to ensure the timely intervention of healthcare providers. However, genetic testing helps make informed decisions and improve the health of the patient but it also holds great challenges including the ethical and practical. These challenges need to be effectively overcome for the improvement in the health response of the patients.
BIO FPX 1000 Assessment 5 References
Berisha, S. Z., Shetty, S., Prior, T. W., & Mitchell, A. L. (2020). Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Birth Defects Research, 112(4), 293–306. https://doi.org/10.1002/bdr2.1648
Hanchard, N. (2022). Autosomal dominant disorder. Genome.gov. https://www.genome.gov/genetics-glossary/Autosomal-Dominant-Disorder
Kiani, A. K., Paolacci, S., Scanzano, P., Michelini, S., Capodicasa, N., Agruma, L., Notarangelo, A., Tonini, G., Piccinelli, D., Farshid, K. R., Petralia, P., Fulcheri, E., Buffelli, F., Chiurazzi, P., Terranova, C., Plotti, F., Angioli, R., Castori, M., Pös, O., & Szemes, T. (2020). Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test. Acta Bio-Medica: Atenei Parmensis, 91(13-S), e2020021. https://doi.org/10.23750/abm.v91i13-S.10534
Mayo Clinic. (2020). Genetic testing. Mayo Clinic. https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
Milani, D. A., & Tadi, P. (2020). Genetics, chromosome abnormalities. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK557691/
Testing. (2021). Chromosome analysis (Karyotyping). Testing.com. https://www.testing.com/tests/chromosome-analysis-karyotyping/
Ugwu, A. (2022). Gender differences in the complications of sickle cell anemia. International Journal of Medicine and Health Development, 27(1), 38. https://doi.org/10.4103/ijmh.ijmh_13_21
