Molecular science and diagnosis portfolio assignment Essay

Molecular science and diagnosis portfolio assignment

Prenatal diagnosis:

The ethical challenges when it comes to Prenatal diagnostics is due to the fact that access to prenatal diagnostics has widened as every new prenatal test raises more and more serious ethical issues. (Vanstone et al., 2014) When it comes to a patient’s decision making it must be informed and free when they are told about the treatments, examinations and care they are going to be given, this is called reproductive autonomy or patient autonomy. (Dukhovny and Norton, 2018)

Autonomy is when a person has control over the choices they make regarding their treatment or examinations and reproductive autonomy is the control a woman has whether to continue a pregnancy if for example she is told her baby may have a genetic disorder such as Down’s syndrome. (Richardson and Ormond, 2018)

There is an agreement that for the patients to be able to give consent that is informed and in order for that to happen they must be given access to accurate information that is non-directive and balanced about the treatment, examination or test and they must know the risks and benefits of the treatment options and the different tests that are available. (Dukhovny and Norton, 2018) So, the ethical challenge occurs when the pregnant woman’s reproductive autonomy and choice is compromised by other people’s decisions. When a pregnant woman’s choice is taken away and she is pressured into making a decision by someone close to her or by health care professionals then her reproductive autonomy is at risk. (Nijsingh, Juth and Munthe, 2017) Women also face pressure from society expectations which affects her to voluntarily make decisions whether to undergo the tests, treatments or examinations. In the UK its readily available for a woman to undergo prenatal testing, but because women have a choice to undergo the test or to not undergo the test and this could lead to ‘burden of choice’ which could cause the woman phycological strains. And if the pregnant woman does undergo the prenatal testing and it is found that the foetus has a birth defect the choice to terminate the baby could also cause phycological strains as it is a painful choice to make. (Zeng et al., 2016)

There is also a disagreement about whether the foetus has the right to an open future as the foetus has the potential to make autonomous choices in the future but if the pregnant woman has access to prenatal testing she could undermine the decision of the foetus’s own choice to find out whether they want to find out their genetic information as their autonomy is being violated in advance. (Desaunay et al., 2017)

There are scientific problems with false positives when it comes to prenatal testing. When the mother’s DNA is tested in a non-invasive prenatal test. According to a New England Journal of Medicine, researchers found out that there is a crucial defect in the way the screening tests look at the DNA. (Geok-Huey, Kuo and Chang, 2018) If for example cell free foetal nucleic acid (cffNA) in the maternal blood is used there could be problems such as low concentration of the maternal cfNA and there could also be similarities with the maternal genome. (Geok-Huey, Kuo and Chang, 2018)

Any problems with the mother’s blood could make the mother believe her child might be suffering from a genetic defect. Sometimes a mother’s blood could have duplications of their chromosomes which could mislead the tests into thinking there are abnormalities but in reality, not every woman has the same number of DNA present. (Williams et al., 2015) This leads to mothers and foetuses undergoing unnecessary invasive testing. But a diagnostic test is needed if there is a positive non- invasive prenatal test result for further confirmation. (Williams et al., 2015)

Companies doing these tests may not explain properly what the difference is between diagnostics and screening tests and so due to these false negatives, mothers may choose to abort their foetuses as they are not able to bring up a baby with a genetic disorder. (Geok-Huey, Kuo and Chang, 2018) It was reported after receiving high- risk results from their screens 3 women from Stanford university aborted healthy foetuses. Pregnant women should undergo an invasive procedure such as amniocentesis to confirm if their foetus has a genetic defect as a screening tests can only confirm the likelihood that the foetus has a genetic defect it does not however confirm the fact that the foetus is going to be born with a defect. (Li and Yang, 2017)

But because some private companies do not reiterate this information to the pregnant women, and this leads also leads to unnecessary distress and anxiety. Also doing an amniocentesis has a small risk of leading to a miscarriage. (Li and Yang, 2017)

Microbial Genomics

A clinical challenge with microbial genomics is the clinical cases of Salmonella Dublin. This infectious disease is an emerging disease, this could be due to the fact the cattle is constantly moved on trucks and the animals are intermixed.

Identification and the bacterial cultures of Salmonella isolates are done by collecting tissue and faecal specimens and using aseptic technique microbial procedues were performed. (Rice, Besser and Hancock, 1997) The bacterial isolates were serogrouped and the sensititre automated microbiology system panel was used to identify them biochemically. There is also another test that is done called antimicrobial susceptibility testing (disc diffusion method). During the disc diffusion test 6 different drugs were tested routinely to test their effectiveness against the bacteria. These include; tetracycline, gentamicin, trimethoprim, chloramphenicol, ampicillin and neomycin. Mueller- Hinton agar was used for the disc diffusion. (Adhikari et al., 2009)

But in 1989 the Salmonella strain’s Minimum Inhibitory Concentration (MIC) was tested by doing a broth dilution susceptibility test which replaced disc method. And the tests revealed that most of the tested strains of Salmonella enterica Dublin were resistant to neomycin, chloramphenicol, ampicillin and tetracycline. (Adhikari et al., 2009)

The cluster analysis showed during the first 6 months of the outbreak in Pennsylvania and New York 35 percent of the cattle were infected already with Salmonella enterica. (Cummings et al., 2019) And after the first year the outbreak occurred in 12 new locations. If the clinical microbiological laboratories do not warn the right authorities immediately then an outbreak that cannot be controlled could occur which could lead to a global outbreak and unexplained illnesses could be avoided. (Cummings et al., 2019)

There are also new technological challenges such as omics technologies (the technologies used to see the relationship, actions and roles of different molecules of an organism) that occur in clinical microbiological laboratories. (Lippolis et al., 2019) Such as when it is time to obtain the diagnosis when caring for a patient until recently antibiotic susceptibility testing was available after 72 hours when the sample was obtained, which meant that the blood cultures’ usefulness was limited in the emergency room. So, for treatment, the prescribed antibiotic was empirically prescribed and if it was not effective another antibiotic was administered or the patient’s death if they were diagnosed correctly. (Bouza, Muñoz and Burillo, 2018)

Clinical microbiological laboratories have a huge impact on the management of patient’s diagnostic speed and treatment when they combine the knowledge of where the patient contracted the disease with rapid pathogen identification can reduce the hospital costs as it enables the antimicrobial susceptibility that was presumed can be used. (Bouza, Muñoz and Burillo, 2018)

There are also costs challenged when the clinical microbiological laboratories and the physicians do not have good interactive skills leading to not timely reporting which leads to poor interpretation of results which may lead to the wrong therapy management for the patient which could lead to more complications or worse case scenario, death. (Sánchez-Romero et al., 2019)

The nature of a diagnostic laboratory in 2025

By 2025 the diagnostic laboratories should have precision medicine or personalised medicine which focuses and separates people into different groups. Precision medicine is medicine that is tailored specifically to each person’s characteristics and their susceptibility to a disease and the specific treatment needed is classified. (Horgan, 2018) Personalised medicine will improve patient care, it will reduce the invasive and unnecessary diagnostic testing that occurs now.

Precision medicine identifies clinical information, epigenomic and the genetic identity to understand the person’s unique genome in order to help predict which specific treatment and as it is specific to the individual it is very effective and safe to use. (Sigman, 2018)

Personalised medicine is specific so there is no unnecessary testing which reduces financial burdens. It will also prolong patients’ lives as it is proactive rather than reactive. (Green, Horne and Shephard, 2013) As misdiagnoses and drug toxicity is contributing to the high healthcare costs with personalised medicine patient satisfaction will enhance. (Atutornu and Hayre, 2018)

When the human genome was sequenced for the first time, personalised medicine was set to impact the health care delivery system. In America they announced that their government would fund the initiative. (Harvey et al., 2012)

To develop personalised medicine by 2025, companies such the pharmaceutical industry should invest and collaborate with the researchers. Also, biomarkers that are more stringent are needed. (Desiere, Gutjahr and Rohr, 2013)

In 2025 robotics and automation could also be used by delivering specimens by using transport models. (Tavella, Pasupathy and Beltrame, 2018)

Humanoid technology’s development has been slow in laboratory areas which include molecular pathology, microbiology and anatomic pathology. This is also more cost effective and it is also the most anticipated and popular prediction when it comes to the future of diagnostic laboratories. (Tavella, Pasupathy and Beltrame, 2018)


Adhikari, B., Besser, T., Gay, J., Fox, L., Davis, M., Cobbold, R., Berge, A., McClanahan, R. and Hancock, D. (2009). Introduction of new multidrug-resistant Salmonella enterica strains into commercial dairy herds. Journal of Dairy Science, 92(9), pp.4218-4228.

Atutornu, J. and Hayre, C. (2018). Personalised Medicine and Medical Imaging: Opportunities and Challenges for Contemporary Health Care. Journal of Medical Imaging and Radiation Sciences, 49(4), pp.352-359.

Bouza, E., Muñoz, P. and Burillo, A. (2018). Role of the Clinical Microbiology Laboratory in Antimicrobial Stewardship. Medical Clinics of North America, 102(5), pp.883-898.

Cummings, K., Rodriguez-Rivera, L., Capel, M., Rankin, S. and Nydam, D. (2019). Short communication: Oral and intranasal administration of a modified-live Salmonella Dublin vaccine in dairy calves: Clinical efficacy and serologic response. Journal of Dairy Science, 102(4), pp.3474-3479.

Desaunay, P., Cerf-Hollender, A., Andro, G., Gerardin, P., Dreyfus, M. and Guenole, F. (2017). High-risk behaviours for the fœtus in pregnant women: The medicolegal and judicial aspects. Journal of Gynecology Obstetrics and Human Reproduction, 46(5), pp.431-437.

Desiere, F., Gutjahr, T. and Rohr, U. (2013). Developing companion diagnostics for delivering personalised medicine: opportunities and challenges. Drug Discovery Today: Therapeutic Strategies, 10(4), pp.e175-e181.

Dukhovny, S. and Norton, M. (2018). What are the goals of prenatal genetic testing?. Seminars in Perinatology, 42(5), pp.270-274.

Geok-Huey, N., Kuo, P. and Chang, C. (2018). False positive result in non-invasive prenatal screening (NIPS). Taiwanese Journal of Obstetrics and Gynecology, 57(5), pp.772-773.

Green, D., Horne, R. and Shephard, E. (2013). Public perceptions of the risks, benefits and use of natural remedies, pharmaceutical medicines and personalised medicines. Complementary Therapies in Medicine, 21(5), pp.487-491.

Harvey, A., Brand, A., Holgate, S., Kristiansen, L., Lehrach, H., Palotie, A. and Prainsack, B. (2012). The future of technologies for personalised medicine. New Biotechnology, 29(6), pp.625-633.

Horgan, D. (2018). From here to 2025: Personalised medicine and healthcare for an immediate future. Journal of Cancer Policy, 16, pp.6-21.

Li, D. and Yang, Y. (2017). Invasive prenatal diagnosis of fetal thalassemia. Best Practice & Research Clinical Obstetrics & Gynaecology, 39, pp.41-52.

Lippolis, J., Powell, E., Reinhardt, T., Thacker, T. and Casas, E. (2019). Symposium review: Omics in dairy and animal science—Promise, potential, and pitfalls. Journal of Dairy Science, 102(5), pp.4741-4754.

Nijsingh, N., Juth, N. and Munthe, C. (2017). Ethics of Screening. International Encyclopedia of Public Health, [online] pp.28-35. Available at: [Accessed 9 Apr. 2019].

Rice, D., Besser, T. and Hancock, D. (1997). Epidemiology and virulence assessment of Salmonella dublin. Veterinary Microbiology, 56(1-2), pp.111-124.

Richardson, A. and Ormond, K. (2018). Ethical considerations in prenatal testing: Genomic testing and medical uncertainty. Seminars in Fetal and Neonatal Medicine, 23(1), pp.1-6.

Sánchez-Romero, M., García-Lechuz Moya, J., González López, J. and Orta Mira, N. (2019). Collection, transport and general processing of clinical specimens in Microbiology laboratory. Enfermedades infecciosas y microbiologia clinica (English ed.), 37(2), pp.127-134.

Sigman, M. (2018). Introduction. Fertility and Sterility, 109(6), pp.944-945.

Tavella, R., Pasupathy, S. and Beltrame, J. (2018). MINOCA – A personalised medicine approach. International Journal of Cardiology, 267, pp.54-55.

Vanstone, M., King, C., de Vrijer, B. and Nisker, J. (2014). Non-Invasive Prenatal Testing: Ethics and Policy Considerations. Journal of Obstetrics and Gynaecology Canada, 36(6), pp.515-526.

Williams, J., Rad, S., Beauchamp, S., Ratousi, D., Subramaniam, V., Farivar, S. and Pisarska, M. (2015). Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. American Journal of Obstetrics and Gynecology, 213(1), pp.102.e1-102.e6.

Zeng, X., Zannoni, L., Löwy, I. and Camporesi, S. (2016). Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK. Ethics, Medicine and Public Health, 2(3), pp.392-401.

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