A View on the Rapid Development of the DNA Sequence Technologies

The rapid development of DNA sequencing technologies has significantly reduced the time and financial resources needed to sequence whole human genome. It has become both cheaper and easier to sequence the whole human genome, than to sequence a solitary genotype (Gilbert 2016, p. 1). It is evident that sequencing of the entire human genome when combined with the evolving knowledge between the relationship between genetics and diseases, is likely to transform the way that medical professionals practice medicine and the way that public health is approached.

Such a transformation will facilitate a more precise, cost-effective and sophisticated genetic testing. In 2009, a report by the UK House of Lords identified the need for strategic application and implementation of genetic technologies in the development of the genomic medicine.

The implementation of genomic medicine within the NHS is expected to confer cost and health benefits to the country and the world in general (NHS England 2015, p. 1). The main goal of the 100,000 genome project is to generate genomic medicine service for the National Health Service, in a bid to change the manner and way in which people are treated and cared for in hospitals.

Under this new project, patients will be provided with medical care in new areas where there was no diagnosis, and there is a big potential for effective treatment.

The genomes project will create a path for new research in medicine, particularly establishing the connection between genetics and diseases. The process of combining medical records with genome sequence data is a revolutionary resource that will play a significant in helping solve some of the rarest diseases that have wrecked havoc in the world.

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In the 100,000 Genome Project researchers will study the most effective way to apply genomics to medicine and healthcare and the most effective way to interpret data so as to assist patients. Through this project, the causes, diagnosis, treatment and management of disease will also be investigated. The UK has made this deliberate effort to create a UK genomics industry and to create the largest national sequencing project in the globe (Gilbert 2016, p. 1).

From the beginning, it has always been in the discourse of medical professionals and researchers that the Genome Project will have deep legal, ethical and social ramifications, and this is the main reason the government set 3-5% of its budget to the study of ethical, legal and social issues (Pandey 2014, p.1). Ethical concerns are issues that spark questions relating to what is right, just and moral. Legal concern are defined as those issues that relate to protections that the law of the land provide, while social concerns are connected to the events that impact the individuals in society or the entire society. Evidently, the ethical, legal and social concerns that relate to the Genome Project and their effects are connected in one way or another (GPCI 2016, p.1).

Many of the ethical, legal and social (ELS) ramifications are not new in the medical field. Following a research study that spanned for a period of ten ear, the gene for the Huntington’s disease was discovered (GPCI 2016, p. 1). Years later the test for the disease was developed and as such many questions arising from the ESL issues have been in known by individuals affected by the Huntington’s disease.

As a result of the Genome Project, nonetheless, society will have to deal with ELS issues at a more regular rate as new knowledge in genetic continue to emerge (Digital Health 2016, p. 2). In addition, the ramifications of the Project may not be very clear, in the event when the genes branded for a particular disease has a strong interface with other genes and has a sturdy environmental aspect.

Reasons why 100,000 Project Will Achieve its Ambitions The question on whether the Genome Project will achieve the intended goal has pervaded many of the medical discourse since the day the Project was proposed by the House of Lord. The director of NHS England National Medical Prof. Bruce Keogh has indicated that the goals of the project are attainable (Collins 2014, p1).

Bruce has indicated that the UK is in a position to unlock centuries-old mysteries of disease on behalf of the human race. Bruce position is pegged on the guise that embracing genomic will position the United Kingdom at the front seat of science and transform the National Health Service to be the most scientifically developed and sophisticated healthcare in the globe. Bruce believes that the Genome Project is a very exceptional and electrifying expedition that will yield tremendous health benefits to the patient and make NHS more capable (Collins 2014, p1).

Caulfield Mark, the chief scientist at the Genomics England, has also stated that the Genome Project will achieve its noble goals and help NHS treat patients with cancer and other rare diseases (Pandey 2014, p.1). Professor Caulfield Mark has emphasized that the creation of new Genomic centres will play a pivotal role in uniting researchers, medical professionals and technicians to world towards the creation of genome data in scale that has never been witnessed before in the medical history of the UK (Collins 2014, p.1).

Professor Caulfield believes that the goals of the Genome Project are achievable because UK has set a clear goal and path for taking the findings of the project back into the conventional healthcare at a faster rate, which means faster result for the patients (Collins 2014, p.1).

It is expected that when the Genome Project comes to an end, the NHS will have the right platform and ready to apply the genomics as part of the everyday care. In this vein, it is of utmost import that doctors, scientists and genetics are equipped with the right skills to be in a position to construe the data and recognize what it means for an individual’s health condition (Hockings and Coyne 2015, p.1).

To attain this noble agenda, the Health Education England has been setting up skills and training programmes for doctors, and other medical professionals to prepare them for the upcoming task. The Health Education England is one of the chief delivery partners in the Genome Project. The work of HEE is to support the workforce transformation, addressing long-term aspects relating to the project through education programmes (Digital Health 2016, p.1)

The main work of the NHS England is to support research. It is essential that the NHS has capability and tremendous knowhow in science. In 2014, the NHS England and Genomics England LTD initiated a $ 300 million programme to enable the sequence of the DNA of thousands of patients (NHS 2015, p. 191). This program has the potential of perk up prediction, improve the prevention of diseases and support and enable new and more accurate treatment test.

The Genome Project will allow the NHS to personalize drugs and diagnosis for individuals with certain genetic disorders and rare disease (NHS 2015, p. 191). Eleven genomic centres have been opened in the last two years, and some patients have been recruited into the plan (Public Health England 2014, p. 23). It is expected that the plan will move to full recruitment in 2016

The main goal for the PHE is to defend the public’s health from communicable diseases and other risks to health. PHE has also been providing specialists microbiology services in the country (Public Health England 2014, p. 23). As a consequence, PHE has been given the task of leading this part in the Genome Project.

This organization will focus on genome sequencing in some communicable diseases such as TB; gather information on public health responses and the ramifications of the medical care of patients. In this light, PHE will spearhead the execution of whole genome sequencing of pathogens to improve the treatment and management of communicable ailments. Most importantly, PHE will accelerate the execution of genomic technologies in services, and in so doing making it possible more quick recognition of antimicrobial resistance and improved detection and management of disease outbreak.

PHE work was very pivotal in the control and management of the outbreak of VTEC 0157 in 2014 (Public Health England 2014, p. 23). The probable cause of the outbreak was identified as the watercress. Genome sequencing indicated that the organisms responsible for the outbreak had never been seen in the UK and which led to the conclusion that the watercress was contaminated with a foreign source material. In the way PHE works in 2014 developed capability to apply genome sequencing in investigating outbreaks, enabling rapid and effective control (Public Health England 2014, p. 23).

The Genomic England created by the department of health, will be one of the key organization that will determine the rate at which the 100, 0000 Genomes Project will attain the set goals. The Genomic England was established as a limited subsidiary organization to avoid primary legislation that would have had a knock-on impacts on patients by holding-up any benefit from any new medical improvement identified as a consequence of the genome sequencing. In 2014-15 a number of pilot with different research centres which has provided crucial knowledge that will be pivotal for the main phase which is expected to take place up to 2017.

The main challenge that 100,000 Genomes Project faced in its early stage was the lack of adequate infrastructure and machines in England capable of supporting the Project. To overcome this challenge Genomics England signed a partnership with Illumina, which will ensure sequencing continues at a pace that will make it possible to realize the goals of the project. Support from organization such as Wellcome Trust has made it possible for the Genomics England to establish a sequencing centre near Cambrid.

The support that the 100,000 Genomes Project has received from the UK government and the important partnership and collaboration with organizations such as Illumina, and Wellcome Trust, the background appears to be set for the Genomic England Legacy (NHS 2015, 190). The project has the potential to revolutionize the future of medical care in the UK. The project as highlighted by the case of the outbreak of VTEC 0157 will augment prediction and improve control and management of diseases. In addition, the Genome Project will enable more accurate treatment test and support personalization of diagnosis and drugs.

Even though it appears that there is nothing that will stop the 100,000 Genomes Project, there are many challenges that pose a significant barrier towards the attainment of the set goals. To make genomics a reality for the NHS it has to be of very high quality, affordable, and with outcomes that are readily understood by the medical professionals and patients. One of the main aspects that make the 100,000 Genomes Project appear as an unachievable pursuit is the fact that it will overly depend on the generosity of the patients and the exceptional talents found in the medical field in the United Kingdom. There are many factors that make the realization of this goal easier said than done.

Even though Genomics England has devoted colossal sums of financial resources in the state of art technology to execute genome sequencing, the fact that this is the very first time that genome sequencing of this scale is being conducted in the country means there are no reference pints on which to benchmark the project. If grave mistakes occur, the entire project may be thrown into disarray.

The first and perhaps the most important phase after sequencing is variant calling (comparing the variations between the patient’s genome and a reference genome). While variant calling can be done with relative ease, interpreting the connotation and import of those variations (annotation) is the gargantuan task (Hubbard 2015, p. 1). Some variations are natural and hence harmless, while others are detrimental and undoubtedly implicated in the development of disease. In truth, much of the genome is still an unknown area that requires dedication and immense amount of effort to unlock (Hubbard 2015, p. 1).

Moreover, the raw data from a single genome can take up to 200 GB (large enough to occupy half of the hard drive of a standard computer). The interpretation process (annotation) can take up to 5 GB. All this data needs to be sifted, analyzed and presented in a manner that makes meaning to the healthcare professionals, a majority of whom have no specialists’ knowhow of gene changes (Hubbard 2015, p. 1). This means that Genome England must continuously invest in technology, people and expertise for the project to be a success.

The 100,000 Genomes Project must uphold very high ethical standards because without it the NHS will not be able to get the genomics service that patients need. The Ethics Advisory Committee has been very vibrant in giving advice to Genomic England. Even with its intervention, some ethical concern relating to policies of consent and to what extent should patients be informed about the result have emerged as some of the critical issues at hand (Hockings and Coyne 2015, p.1).

The privacy and confidentiality of the information generated from the 100,000 Genomes Project could also lead to problems (Hockings and Coyne 2015, p.1). For example, majority of the people who give their sample for research do not want to other people their genetic makeup. There are also issues relating to the psychological effects linked to the awareness of you own genetic make-up. If an individual is made aware that there is a chance they will develop cancer or rare disease, it would most likely change the way that they think and approach life. This would ultimately be a source of stress and depression to many people (Hockings and Coyne 2015, p.1).

The Department of Health has also admitted that the information and data made available to commercial firms and other third parties would not be anonymised. This has deep ramifications. Anonymised data is stripped of all elements that would make it possible for identification of the patient/person whose sample is used in research (Hockings and Coyne 2015, p.1). The information given to third parties would be pseudonymised, meaning aspects such as the age group and geographical area of the person in question will be made available.

Other relevant information such as medical history will also be made available. There make it possible for companies to trace the identity of participants in the Genome project.

Patients donate samples of their blood and other relevant information through the mode of informed consent which must be approved by the Ethics Committee. In this process, patients are explicitly asked if they give consent so that commercial firms can use them to carry out research (GPCI 2016, p. 1). Because there is consent and awareness that patients samples will be used in research in the search for better drugs and treatment to address the underlying condition, the first phase does not spark any ethical issue. Nonetheless, the way that commercial companies use the data derived from the patients samples may spark some ethical issues that Genomics England must address.

Commercialization of drugs and treatment test found using the patient’s sample without any benefit to the patient or government does not augur well for many individuals. Genomic England must look for ways to charge commercial firms for its data service, to make sure that the cost of maintaining such data is shared between the public (tax) and the firms (GPCI 2016, p. 1). Measures should also be put in place to ensure that the public benefits when firms develop new drugs, diagnostics examination, and devices by using Genomic England data service.

The availability of genetic information with respect to individuals and the human populace will have unfathomable effects on our daily live and may alter the way that we look upon ourselves and other people. The awareness about human predisposition to particular disease and the ability to design personalized test and diagnostics may significantly facilitate the treatment and management of disease (GPCI 2016, p. 1). Some commercial firms have applied for patent on machines that can identify different forms of genes linked to various traits such as knowledge. Some people have raised concern that the type of research that 100,000 project intends to conduct is not proper, at this point in history.

Some people have pointed that science has been used for many years to heighten racial differences and support racist tendencies. Due to the fact that human beings are yet to resolve issues relating to racial differences, it is expected that the information from the Genome Project may stir up racism in already overly racist globe (GPCI 2016, p. 1).

Some biologists have also stated that if the aim of the Genome Project is to prevent certain disease and develop better treatment to increase the span of life, the huge sums of money spent on it can be relocated elsewhere where the chances of making positive contribution in the medical field is much easier (GPCI 2016, p. 1). Such scholars have cited that the fact that we already know that social and environmental factors can predispose individuals to certain disease, it ia waste of resources to dispense resources in search of genetic causes.

The legal facets of awareness of the human genome are immense. For many years, DNA evidence has constituted an important piece in criminal law, especially in exonerating individual who are erroneously accused. With the information about human genes that the 100,000 is designed to generate, there are concerns on whether the criminal system will find it important to maintain a DNA bank of all individuals’ convicted or charged of a criminal activity (GPCI 2016, p. 1). Such a database would evidently be used for other purposes than in incriminating or exonerating individuals charged in courts of law.

In addition, if the genome project establishes that some individuals are predisposed by their genetic makeup to behave in a certain, would the justice system be justified to hold them guilty for crimes committed, knowing too well it was not their fault.

In addition, the legal responsibility of the physician is not clear on whether they should inform relative of a patient about the risk they face. In the event that it come to the knowledge of a patient that she has genetic predisposition to cervical cancer, but such information is not relayed by the physician to the relatives; will the relatives be able to sue the physician for concealing such crucial information if they get cancer (Hockings and Coyne 2015, p.1). There is also the challenge os making sure that judges are well informed to be in a position to deal with issues relating to genetics within the legal framework.

The support that the 100,000 Genomes Project has received from the UK government and the important partnership and collaboration with organizations such as Illumina, and Wellcome Trust, the background appears to be set for the Genomic England Legacy. The UK government has made this deliberate effort to create a UK genomics industry and to create the largest national sequencing project in the globe. It is evident that sequencing of the entire human genome when combined with the evolving knowledge between the relationship between genetics and diseases, is likely to transform the way that medical professionals practice medicine and the way that public health is approached.

To make genomics a reality for the NHS it has to be of very high quality, affordable, and with outcomes that are readily understood by the medical professionals and patients. The sequencing and data challenge have erected immense barrier that requires immense resources and dedication to surmount. The ethical, legal and social concerns on the use of data and information generated from the project have also called for the implementation of an approach that is tolerable by the public. Nonetheless, the support from the government, private bodies and dedication from researchers and medical professionals have given the 100,000 Genomes Project the impetus it needs to beat all odds and attain the set goals.