Since the structure of DNA was determined in the 1950s, scientists have continued to make great advancements in establishing how the “building blocks of life” are intertwined. In 2003, the Human Genome Project was completed. At the time, the cost for the first individual to have their genome sequenced was just under $3 billion. Now, in just three days and at a cost of $100-$1000, any person could choose to sequence their genome. The advancement of genetic and genomic technologies and ongoing studies, such as computational biology, epigenetic research, genome wide association studies, and whole exome sequencing has led to undeniably impressive results.
Researchers are now not only able to identify genes, they can study the interactions of these genes much more readily than in the past. This can help with the treatment of complex disorders, where multiple genes may be a factor, or assist with mapping of hereditary disorders and cancers. The example of colorectal cancer will be used to illustrate how advanced knowledge of genomes and genetic testing is beneficial. Although most cases of colorectal cancer are sporadic, approximately 5% of cases are inherited. These individuals were born with a mutated gene, inherited from either their mother or father; therefore, they have a greater likelihood of developing this cancer. A common form of inherited colon cancer is caused by a mutation in the HNPCC gene, where a mutated form leads to cancer 80% of the time. Advancement in genetic technologies provides at-risk individuals the opportunity to have their genome mapped to identify whether they are carriers of a mutated HNPCC gene. Carriers of the mutated variant can be screened yearly while they are asymptomatic. This allows doctors to note immediate cancer progression, leading to faster identification and treatment. However, although this provides the opportunity to prolong lives, it also leads to the possibility of “designer babies”.
One of the main challenges of genetic technology advancements in medicine is the ability to genetically engineer offspring to eliminate any potential future health issues. As such, a family with a history of colorectal cancer carrying the HNPCC gene could genetically screen embryos prior to implantation to select a future child that does not carry this mutation. Although this would prevent future pain and suffering of a loved one, it is a slippery slope. There is potential to genetically engineer the perfect child, which is outside the necessary medical aspects of this developed technology. This is currently an ethical and safety concern.
Despite the medical advancements made in the past 70 years, inherited cancers and hereditary disorders are still very prevalent and widespread. Some believe that in future, gene editing techniques, such as splicing out a mutated gene, could prevent and cure these inherited disorders. The population could then live even longer, which also leads to an issue regarding the sustainability of our planet. Future directions should continue to utilise the technological advancements in medicine to prevent and treat as many inherited disorders as possible, while being cautious of human ethical limitations.
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