Process and Ethics of Genetic Screening - Special Academic Support

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Genetics are either genes or inherited characteristics. There are many tests people can go through to check their genotypes. The Nuffield Council on Bioethics (1997, p.3) defines genetic screening as: a search in the population to identify individuals who may have, or may be susceptible to, serious genetic disease or those whose children may be at risk of having genetic diseases.

It is done to check if people carry genes for certain genetic conditions or to check whether they are at a risk of developing a condition or a disorder. Genetic screening is done to identity if people are carriers of a genetic condition or to rule out the condition. Professionals check to see whether individuals carry a certain genotype that can or may cause serious harm to them. Whilst genetic screening in closely linked to genetic testing there is much of a difference between the two, genetic testing involved the individual seeking professional advice and taking the lead. However, the screening could be in a situation where tests might be imposed on people.

The process of Genetic screening usually takes place if medical professionals suspect a condition based on signs or symptoms in an individual. There are several types of genetic tests which are done to highlight specific characteristics. These tests include: Chromosomal tests, Tests for disorders involving a single gene, Direct tests, Indirect tests and ultrasounds.

The most common way this screening is done is by cells being extracted from samples such as blood, hair, skin and amniotic acid this is fluid that surrounds the foetus whilst a woman is pregnant There are several other ways the genetic screening can be done and are as follows.

Chromosomal tests are where cells from the blood undergo a microscopic examination to check whether genes vary from the usual gene pattern. Tests for disorders involving a single gene are done by testing the protein of the gene as genes remain undetected in a microscope. Direct tests are done by separating genes and to then recognise if any changes are taking place. Direct testing can be done on any bodily tissue and not just by blood samples. Another type of testing is Indirect testing, this is done to identify the way a gene functions rather than testing for the gene itself.

Moreover, Ultrasounds are another method of screening, but this is mainly done during pregnancies to establish any abnormalities that may be a result of genetic diseases. This type of screening is mainly done to check for foetal abnormalities. Lab technicians analyse the DNA and check for changes in the DNA cells, chromosomes or proteins. Once professionals have analysed this sample, they write reports on their findings. (Nuffield Council, 1997, p. 10-13)

Whilst Ultrasounds are done before babies are born, genetic screening is also done on new-borns. Samples are extracts from new-born babies; this is completed by extracting a blood sample which is recovered by pricking the heel of a baby and taking a small blood sample. The gathered sample is then sent to a lab allowing medical professionals to assess and report their findings. The National Screening committee established in 1996 have formed the criteria for screenings. A few things that the screening might be done for is hearing loss or hypothyroidism in children who have Downs syndrome as highlighted by Elliman et al. (2002, 87:6-9). They have also discussed screening for Phenylketonuria, (PKU) this is a disease that affects the mental health of children. (Nuffield Council, 1997, p. 15) However, this disease can be prevented is treatment is given in the first few weeks from birth. Screening for PKU is now policy in the UK and has been since 1973 and is one of the biggest screening programmes.

The concept of genetics has been known for more than 10,000 years and researchers have found that certain traits found in plants and humans can be reproduced without mating as found by Sanders and Bowman. (2012, p.2) Meaning genes found in humans can be extracted and can be paired with other pieces of DNA making it a recombination of DNA.

Gene therapy or the manipulation of genes is the application of recombinant DNA technology, this is used to cure human illnesses and diseases. A big use for recombinant DNA technology is that it is used for reverse genetics, this is a study of genes beginning with the study of the gene sequence, opposed to the traditional study of DNA beginning with a mutant phenotype as discussed by Sanders and Bowman. (2012, p.562).

According to Cederbaum et al., (1984 p. 210-212) in an earlier study of recombinant DNA technology have found that bacteria had led clinics to manipulate and recombine DNA. They also proceed explain the process of recombining DNA and state that it is cut and can reproduce, it is under controlled circumstances that the two pieces are put together.

Recombinant DNA technology is regularly used in the treatment of illnesses or diseases. A few examples where this type of technology has been used clinically is for diabetes for its use in Insulin or human growth hormone. This type of technology is also used in the treatment of cancer and hereditary disorders. This type of technology is essential in improving quality of life. Many biotechnology pharmaceuticals are recombinant or altered and therefore can cure lethal human diseases as summarised by Khan et al., (2016. 1). Although recombinant DNA technology is still developing it has already been evident, through vaccines and therapeutic agents to improve the health of individuals. Khan et al., (2016. 1)

Whilst recombinant can cure many other inherited diseases, it also plays a key role in boosting treatment for cancer. Cancer is a genetic disease which means that DNA would require alteration to prevent it in potential carriers or those who are undergoing treatment. (Watson et al., 2007, p.397) Although cancer is usually treated in surgery or by way of chemotherapy, recombinant technology is vital for cancer treatment, the key anticancer therapied available are vaccines, antibodies, immunostimulants, immunotoxins and fusion proteins.

Before recombinant DNA is used to treat any carriers of or prevent the development of the gene. Those who are high risk of having the disease are sent for a screening. This is a genetic screening to assess the risk of those who may be affected by the cancer gene. Once the screening has been completed and professionals have assessed these risks or possible illnesses, they either move on to anti-cancer treatment which could be recombined technology. The Vaccines can be used to prevent the disease and treats those who many already be affected, whilst the antibodies aim to prevent the creation of the disease. Cancer is usually fuelled by an uninhibited call growth. DNA vaccines either blocks the creation of infection of stops the development of cancer for individuals who may be at higher risk of it or this supports the treatment of cancer. One of the vaccines is known as the HPV vaccine and this is recombined using the L1 protein and is designed to avert many cases of cervical cancer and has been detailed by Pranchevicius and Vieira (2013, p. 305-312)

Antibodies are also recombined to enhance anti-cancer treatment. And Immunostimulants and the first recombinant drugs developed in 1986 was an Immunostimulant. The purpose of this type of technology is to push to body to avoid and resist viral infections and cancers.

Recombinant technology is then applied to the cancer gene. Medical professionals cloned a specific DNA known as viral oncogenes. This type of DNA was found, analysed and cloned. It was then put into fibroblasts to check if it was activated. This gene mutation demonstrated it can alter the genes and was able to find oncogenes which are present in many different types of cancer. (Watson et al., 2007, p.400-402)

Recombinant DNA technology has only been used for a short time it has got many benefits such as improve quality of life through medicine and treatment. This is evident by the development of insulin by scientists to improve the treatment of those with diabetes. Cancer patients have also benefitted as these mutations can target the cancer gene and treat these people. Genetically modified food is also the product of recombinant DNA and has allowed alterations with DNA to expand the shelf-life of certain foods, this results in more food being available in the world. This is done by colonising microbial organisms and reduces bacteria growth and has been justified by Khan et al., (2016. Chapter 4)

On the other hand, the subject of DNA technology had come under scrutiny. The main limitations for this are moral of ethical. It has also been raised that the product of recombinant DNA technology is quite opposite to the laws of nature. It is a notion that is becoming threatening to beliefs and ideologies due to the power given to scientists to genetically modify anybodys DNA as summarised by Peterson (2010). This could lead to this technology becoming expensive or be used inappropriately i.e. picking and choosing traits and making genetically modified babies which ties in with the morality debate.

Genetic screening has also been criticised ethically. The Nuffield Council on Bioethics (Nuffield Council, 1997, p. 29) has highlighted the many ethical issues regarding the screening. The main issue with genetic screening is whilst doing the screening professionals must ensure they provide sufficient information to individuals about this screening and that consent is obtained wholly if their DNA is used for experimenting. The consent must be informed as emphases by the Nuffield Council (1997, p. 29).

Moreover, Godard et al., (2003) in their review have looked at the Danish Council of ethics and their definition of Ethics. The Danish council is mainly concerned with the information that can be gained from the screenings. The information is not limited to the individual who has attending the screening but also extends to information about their family and relatives. Although the studying of this DNA can be helpful in researching and analysis it cannot help in treatment as usually those who are called to screenings are already healthy.

If any such screening is done, then the individuals data must be protected but under the updated Data Protection Act (2018) there is not much focus on the penalties for misuse of DNA.

Another ethical concern raised by the Nuffield Council (1997) is the anxieties caused by the screenings. This may be where people completing screenings are told of any risks, this may make them anxious and affect their mental health. Holtzman (1996) has successfully evaluations the main ethical concerns with the screenings. Firstly, the autonomy of individuals is under threat as the screening is practitioner led so individuals in the screening might lose their right to self-govern or make any choices. Privacy is also a concern for those evaluating screening as the information from this screening would be passed to employers, schools/institutions, banks etc. this could affect their relationships with others but more importantly affects their right to a private life.

If such screening results were made available to institutions or employers it would be discriminatory if employers then did not hire people based on the fact their genes made them susceptible to health issues.

New-born screening is also under questions regarding ethics. The World Health Organisation criteria has been highlighted and evaluated by Kerruish and Robertson (2005). In their evaluation they have said that issue of informed consent for new borns has been controversial. There is also a lot of confusion regarding new-born screening as it is mandatory in some countries but is not in others like the UK and Ireland. Kerruish and Robertson (2005) have also concluded that whilst there are harms when screening new-borns the benefit of checking their genes outweighs the harm caused by the screening.

Nevertheless another ethical issue is raised about who the patient is during genetic screenings whilst women are pregnant so the question asked is whether medical professions are testing pre-patients who may be at risk of having a genetic illness. If screening is done whilst pregnancy this raises the moral issues of informing individuals about future risks. This could mean letting them know their child will be a carrier of genes that make them Asthmatic, Diabetic or they have Downs Syndrome. This could morality issues including abortions based on these medical assessments or children may be given up for abortion. Screenings might also lead to an increase of recombination of DNA to ensure people are creating the perfect baby. This concept will go against the laws of nature and would have mean there is an imbalance in society. There might also lead to inequality issues between those who are a product of the technology and those who are naturally produced.

Overall, it appears that whilst genetic screening can be very useful for those who are at risk of developing or have genetic illnesses there are many ethical linked with this. There are also a few harmful side-effects if done on new-borns. If these side affects are minimalised and the ethic concerns are covered then genetic screening can be a great thing is allowing scientists to get ahead of illnesses or genetic issues. Whilst genetic screening is the first step, it can lead on to DNA recombination. This recombination is also very beneficial to individuals and can support them with treatments although the moral and ethical issues raised on this are debated. Recombinant DNA technology has many positive uses if it used properly and to improve the quality of life rather than a luxury.

Reference list

Books

Nuffield Council on Bioethics (1997) Genetic Screening Ethical Issues. London: Nuffield Council on Bioethics.
Sanders, M and Bowman, J (2012) Genetic Analysis An Integrated Approach. California: University of California at Davis, International edition.
Watson, J.D., Myers R.M., Caudy, A.A., Wtikowski, J.A. (2007) Recombinant DNA Genes and Genomes A short course. New York: Freeman and Company.

Journal articles

Elliman DAC, Dezateux C, Bedford HE (2002) Newborn and childhood screening programmes: criteria, evidence, and current policy. The BMJ British Medical Journal. Archives of Disease in Childhood 87:6-9. Available at: https://adc.bmj.com/content/87/1/6
Cederbaum, S. D., Fareed, G. C., Lovett, M. A., & Shapiro, L. J. (1984) Recombinant DNA in medicine. The Western Journal of Medicine. PubMed PMID: 6208695; PubMed Central PMCID: PMC1021739. 141 P. 210222. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1021739/?page=2
Khan S, Ullah MW, Siddique R, Nabi G, Manan S, Yousaf M & Hou H. (2016) Role of Recombinant DNA Technology to Improve Life. International Journal of Genomics. PMID: 28053975 PMCID: PMC5178364 PMID: 28053975. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178364/
Pranchevicius, M-C. S. & Thiessa, R.V. (2013) Production of recombinant immunotherapeutics for anticancer treatment, Bioengineered. Volume 4, Issue 5, p. 305-312 Available at: https://www.tandfonline.com/doi/full/10.4161/bioe.24666
Godard, B., Kate L.T., Evers-Kiebooms, G., & Ayme, S. (2003) Population genetic screening programmes: principles, techniques, practices and policies European Journal of Human Genetics. 11 S-49-S87. Available at: https://www.nature.com/articles/5201113?fbclid=IwAR1ZDw2QGZfRP_XB_D_yC42QacRdLNT4s0SJpwuXVme3y87D4tLsUNSdNy4#ref-CR2
Peterson, M.J. (2010) Appendix E: Ethical Evaluation of Recombinant DNA Research International Dimensions of Ethics Education in Science and Engineering. Version 2. Available at: https://scholarworks.umass.edu/cgi/viewcontent.cgi?article=1023&context=edethicsinscience
Kerruish, NJ and Robertson, SP (2005) Newborn screening: new developments, new dilemmas Journal of Medical Ethics. 31: 393-398. Available at: https://jme.bmj.com/content/31/7/393
Holtzman, N.A. (1996) Medical and ethical issues in genetic screening An academic view. Environmental Health Perspectives. Department of Paediatrics. PMID: 8933046 PMCID: PMC1469693 – 104. 5:987990. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1469693/?page=4

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