Table of Contents
Automation in cytogenetics and molecular principles has made a significant contribution to understanding the chromosomal basis regarding constitutional as well as acquired diseases. Their applications are broadly used in clinical practices to diagnose, prevent and treat severe conditions including genetic diseases and cancer.
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How we got to the Current Situation
Briefly looking at the history of automation in molecular and cytogenetics, most previous discoveries resulted to significant milestones in evolving the study of genomes as it is being applied today (Durmaz et al., 2015, p.2). One of the major steps that led to where it is today is the development of a single-lens microscope in 1595 by Jansen, an automated instrument that enabled the intracellular structures to be visualized.
Besides, techniques in genetics were performed after 1966 not only on the prenatal samples but also on the postnatal specimens (Burton 2012, p.14). This is because it was indicated that the amniotic fluid’s fetal cells could be obtained through the use of invasive procedure referred to as amniocentesis, in which novel banding technique was used to help in identifying genetic etiology of well-known clinical syndromes such as Wolf-Hirschhorn and Cri-du-Chat syndromes.
Currently, automation in molecular and cytogenetics has a significant impact as it is applied in treating cancer. The central theory in cancer research is that genetic aberrations are the primary causes and driving force for the cancer disease, and therefore current automation in molecular cytogenetics plays a significant role to identify these aberrations (Das & Tan 2013, p.315). Furthermore, Fluorescent in situ hybridization (FISH) is a broadly established technique for molecular cytogenetic that is frequently used today in diagnostic pathology for locating whether specific DNA sequences are present in the nuclei and chromosomes of cancer cells.
Also, a technique known as multi-color flow cytometric immunophenotyping is currently used to detect the least residual disease in AML (Jaso et al., 2014, p. 1130). Therefore, it implies that contemporary chemotherapeutic routines have helped in achieving a larger percentage CR of patients with AML.
The Future Impact
Automation in cytogenetics and molecular has resulted to cytomorphology, which is the study of different types of cells as well as structures contained within them. Today, digitalization, recognition, and image capture by more sophisticated tools for cytomorphology present a better cross-analysis and documentation of diseases (Béné et al., 2015, p.366). Therefore, the currently used Whole Slide Imaging (WSI) for cytomorphology will in future be a powerful technological equipment for morphological diagnosis of leukemia. Besides, this technology will be utilized for improving diagnosis in developing countries and harmonizing morphological assessment of leukemia, in addition to facilitating the training of new future generations of hematologists.
Additionally, a clinical next generation sequencing (NGS), a term referring to various technologies that allow for rapid sequencing of DNA segments in large numbers including and up to complete genomes will play imperative roles in healthcare (Deverka & Dreyfus 2014, p.22). It will play a major role in future, mainly to obtain genetic information from patients and will result in significant benefits to personalized medicine.
Automation in cytogenetics and molecular techniques has come a long way starting with the invention of the single-lens lens microscope in the 1500s that allowed for easy visualization of intracellular structures. However, currently, automation plays a significant role in treating cancer by the use of FISH, and finally, it is believed that NGS will in future help in obtaining genetic information from patients.
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- Béné, M, Grimwade, D, Haferlach, C, Haferlach, T, & Zini, G 2015, ‘Leukemia diagnosis: today and tomorrow’, European Journal Of Haematology, 95, 4, pp. 365-373, Academic Search Premier, EBSCOhost, viewed 6 March 2017.
- Burton, R 2012, ‘The impact of molecular techniques on cytology’, MLO: Medical Laboratory Observer, 44, 4, pp. 14-17, Academic Search Premier, EBSCOhost, viewed 6 March 2017.
- Das, K, & Tan, P 2013, ‘Molecular cytogenetics: recent developments and applications in cancer’, Clinical Genetics, 84, 4, pp. 315-325, Academic Search Premier, EBSCOhost, viewed 6 March 2017.
- Deverka, P, & Dreyfus, J 2014, ‘Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges’, Journal Of Law, Medicine & Ethics, 42, pp. 22-41, Academic Search Premier, EBSCOhost, viewed 6 March 2017.
- Durmaz, A, Karaca, E, Demkow, U, Toruner, G, Schoumans, J, & Cogulu, O. 2015, ‘Evolution of Genetic Techniques: Past, Present, and Beyond’, Biomed Research International, 2015, pp. 1-7, Academic Search Premier, EBSCOhost, viewed 6 March 2017.
- Jaso, J, Wang, S, Jorgensen, J, & Lin, P 2014, ‘Multi-color flow cytometric immunophenotyping for detection of minimal residual disease in AML: past, present and future’, Bone Marrow Transplantation, 49, 9, pp. 1129-1138, Academic Search Premier, EBSCOhost, viewed 6 March 2017.