This paper contains an explanation what genomic sequencing is and how the sequencing can benefit the future of healthcare. Genome sequencing can allow scientists to predict diseases before symptoms show. It will also be discussing the ethical implications of genome sequencing and its current limitations.
Genomics is the study of genomes; a genome is an organisms complete list or set of DNA, and all the genes it codes for[DS1]. Essentially it i all the information needed to make and sustain that organism. Genome sequencing is sourcing the exact order of the base pairs that make up DNA and genome. On 14th April 2003 the Human Genome Project was complete: it took 13 years to complete and cost $2.7 billion. Although this project took a large amount of time and money, it was definitely worth it. The completed genome has made it possible for scientists and researchers to find genes easily and has helped them understand how genes work together to “direct the growth, development and maintenance of an entire organism” (Genome News Network, 2003). A better understanding of the genome will also allow scientists to understand what causes certain diseases and in turn develop better treatments for them. It can also lead to more personalized medicine, for example how the variations in an individual’s genome can affect how they respond to drugs. Further research into the human genome would revolutionise modern medicine and healthcare as we know it[DS2].
We attended regular meetings where we discussed futurology and topics such as DNA & Health. There was also a workshop where we worked on and developed skills such as referencing. We independently conducted research by searching articles, journals, and websites online. We collected secondary data.
Genomics can be used to predict illness before symptoms show. This would mean that treatment could begin as early as possible, and precautions could be taken to ensure that patients won’t ever get the symptoms. The rapid development of DNA sequencing technology has now made it possible for individuals to get their genome sequenced affordably and practically, this is personal genomics. Dr. Stephen Quake sequenced his own genome and built a database of gene variations and their connections to a range of medical conditions and diseases. Using Quake’s genetic profile they discovered that he had mutations that can cause a fatal and sudden heart attack, and over 50% chance of becoming diabetic and obese. It also indicated how Quake would react to different medications- there are many heart disease drugs which he may react badly to. This made it possible for doctors to take what they deemed necessary precautions to prevent heart disease and gave him statins. Being able to predict future disease and make sure that only medicine which would work best for that individual is given would save our healthcare system a lot of money as drugs wouldn’t be wasted on patients they won’t benefit, and illness could be prevented instead of cures or treated which often takes a lot more money and time. Dr. Quake said, “We’re at the dawn of a new age in genomics, information like this will enable doctors to deliver personalised healthcare like never before.”
Couples who want children can also use personal genomics to find out if they are a carrier for a gene that may cause their child to have a disorder or disease, for example cystic fibrosis. If both of them have a carrier gene they can take the necessary precautions to ensure that their child does not. For example, having their baby through in vitro fertilisation (IVF).
The Personal Genome Project is a long-term study which aims to sequence and analyse over 100,000 people’s genome. This could help research into personal genomics. Volunteers send in a DNA sample and information on their phenotype and medical records, this helps researchers to better understand the association between our genes, our environment, and our phenotype (our physical appearance).
A survey conducted by Sermo (a social network site for doctors and physicians) revealed that 73% of physicians had not recommended that their patients get their genome sequenced. In another poll, 74% doctors stated they believed family medical history was more informative for diagnosing and treating patients than genome sequencing (Begley,2016). The field of genomics is relatively new; this could be why so many doctors are opposed to it. Dr. Girgis stated that there is a lack of treatment available to address whatever risks are identified and that there is no evidence for doing this testing (Begley,2016). Many doctors believe that genome sequencing is not evidence based and that there is not enough large scale research into its benefits. Some doctors suggested that “information indicating that you will eventually have a heart attack” is useless if nothing can be changed to prevent it. The benefits of genome sequencing will be more relevant and achievable when we have the technology to develop treatments which can ensure the prevention of any conditions that may be found in the sequence.
Those who participate in genome sequencing research such as the personal genome project are susceptible to genetic discrimination from employers, or insurance companies. As it may be discovered that they have a variation that makes them more at risk of certain conditions or illnesses; or if they discover they are at risk of inheriting an illness[DS3]. To prevent this from occurring the Genetic Information Nondiscrimination Act (GINA) of 2008 was created. Title I of the Act prevents health insurers from being discriminatory, by making it illegal for them to ask customers to undergo genetic testing, or inquire about genetic information when deciding a person’s insurance eligibility or coverage. This part began on 21st May 2005 (Genetics Home Reference, 2016[DS4])
Title II of the Act protects people from discrimination from employers by preventing them from using genetic information when making any decisions about hiring, promotions, salary, or dismissal. It also banns employment agencies from asking about genetic information, or requesting genetic tests. This part was implemented on 21st November 2009 (Genetics Home Reference, 2016).
Another ethical issue concerning genome sequencing is the protection of participant’s privacy. Although the data collected needs to be shared broadly to maximize its value for ongoing exploration and research; the participant’s privacy also needs to be protected (National Human Genome Research Institute, 2015). However, because DNA is so unique to each individual it can never become 100% anonymised.
There are a number of databases held by NIH where researchers can put up de-identified data. In 2013 a study by Homer et al pointed out that it was possible to identify participants using the data in the databases and public records (Wright et al, 2013). Since, NIH has control over who has access the to the data, ensuring that the privacy of participants is upheld. Before participation, volunteers are made aware of the potential risks they face if their genetic information were to be released, and are asked to sign an informed consent form. Informed consent forms should contain a description of the method of research; uses of the results; what results mean; if results show the risk of a condition that may affect family members or children.
Despite being a relatively new field, genomics has come very far in a short amount of time, the Human Genome Project took 13 years and $2.7 billion. But today anyone can have their genome sequenced in 24 hours for $1000. Genome sequencing has already developed a lot; allowing scientists like Dr. Quake to predict illness and attempt to prevent it occurring by taking precautions, whether that means a change in lifestyle or taking medicine. Genome sequencing also makes it possible to determine which drugs work best for certain individuals and which drugs don’t; this is very beneficial as it means money won’t be wasted on giving ineffective treatment and medicine to those it won’t help.
However, genomics still has a long way to go. there is no benefit of being able to predict illness if you cannot treat the illness. Medical science needs to develop more and discover ways to treat more illnesses and diseases for the prediction of them to become very useful. Also, there are many ethical implications of genome sequencing e.g. privacy and discrimination. Although law and acts have been put in place to try and solve these issues there is still a chance that participants of sequencing will experience a breach of privacy; hence they have to sign an informed consent form. Genomics can definitely benefit and change healthcare in the future with more study and large-scale research.
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Wright, G.E., Koornhof, P.G., Adeyemo, A.A. and Tiffin, N. (2013) ‘Ethical and legal implications of whole genome and whole exome sequencing in African populations’, BMC Medical Ethics, 14(1), p. 21. doi: 10.1186/1472-6939-14-21.
Begley, Sharon. “Consumers Aren’t Wild About Genetic Testing – Nor Are Doctors”. STAT. N.p., 2016. Web. 7 Sept. 2016.
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