Science & Ethics: The Rise and Risk of Genome Sequencing

The first human genome sequence was completed in 2001. Since then, whole genome sequencing has been used as an important tool in scientific research. What does the availability of this information mean for our society?

Author: Adi Sen

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The first human genome sequence was completed in 2001.

Since then, the whole genome sequencing has been used as a major tool in scientific research. Now, companies such as 23andMe, which claim to be able to predict an individual’s risk for a number of genetic diseases, as well as other traits, such as their hair colour, are gaining in popularity. As the cost of genome sequencing decreases, what does the availability of such information mean for our society?



Whole genome sequencing refers to the process by which the complete DNA sequence of an organism’s genome is determined.

One of the main potential advantages of genome sequencing would be to be able to predict whether an individual will develop a particular genetic disease. It has been well reported that the presence of the harmful BRCA1 gene mutation can cause an increase in the likelihood of a woman developing breast cancer before the age of 80. This represents the results of one of many studies looking into how genome sequences could be used to predict disease.

This sort of information can then be used to identify groups at risk of a disease and target them with screening or other preventative measures. At present, however, too little is known about many genetic diseases to accurately predict whether a patient will develop them. But, with the number of studies currently underway, it is unlikely that this will remain the case for much longer.



One of the main concerns about genome sequencing is what will happen to the information.

Our genome sequence defines who we are. It can tell whether an individual has blue eyes, is likely to take up smoking and give details on their family history. It contains all the details to one day predict our risk of disease and our habits. Who should have access to it? Who should decide what tests are run on the sequence and what traits are looked into? These are all questions that will need to be answered in the near future.

The cost of generating the very first draft human genome sequence was estimated to be $300 million but, today, a human genome sequence can be generated for less than $1,000. This increased ability to carry out whole genome sequencing has led to the rise in online companies offering to sequence an individual’s genome. With these new possibilities come a number of risks. Are there sufficient regulations in place to ensure genome sequence data is safe? Are we ready to understand what our genome sequences mean for our daily lives?



Genome sequencing will soon play a major part, not only in the lives of scientists, but in the lives of everyone in our society.

By choosing to study science at university, it could be you that is involved in deciding the answers to these important questions and determining just how genome sequencing will play a role in hospitals and our society.



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