UNC researchers are currently leading the genomic revolution by implementing Whole Exome Sequencing in the clinic.
In 1990, the National Institutes of Health (NIH) embarked on the Human Genome project, a 13-year-long, publicly-funded effort with the end goal of identifying the DNA sequence of the entire human genome. Sequencing the first genome cost about $1 billion, but today it costs about $3,000 to $5,000 and takes only one to two days. However, there are many subsets of next-generation sequencing that are proven to be effective as well, such as whole exome sequencing.
This type of sequencing is a genetic test that only sequences the DNA in your body that code for proteins, which join together to give you genes that produce eye color, height and even potential diseases that you may have. Scientists have been using this tool in research for nearly two decades, but recently, the age-old question has arisen: Can sequencing be used in routine medical care?
This is exactly what researchers, geneticists, doctors and bioethicists at UNC want to find out. NCGENES was born out of a four-year, $6.4 million NIH-funded grant that was used to sequence genomes of hundreds of patients to develop diagnostic markers for clinicians. In 2017, the NIH renewed the grant for $9.7 million, to establish what is known to most UNC professors as NCGENES 2, led by Dr. Jonathan Berg.
The entire project has three known “waves”: Clinical Genomic Study, in which the use of whole exome sequencing in the clinic is evaluated; Analysis and Interpretation of Sequencing Data, and Ethical and Psychosocial Implications Research. Researchers hope that by completing this project, UNC will be able to develop an infrastructure to apply genomic sequencing for the benefit of patients within the clinic. Eventually, they hope to apply these sequencing techniques in order to serve medically-underserved groups and populations.
Regardless of how fast and cheap genetic sequencing may have grown over the last two decades, the feat of accurately and effectively interpreting genomic results is not to be taken lightly, and poses numerous ethical considerations.
The first being, genomics is a probabilistic science; even though one may have a certain DNA sequence, there are a variety of other things that can affect which genes are actually expressed. Environmental, biological or geographical factors, and not to mention genetic variation and mutation, can all play a role. In addition, it is not just one gene or sequence that can be used to identify certain traits — most of the time, multiple genes code for one trait. This makes it exponentially more difficult for researchers to be able to definitively draw conclusions based on sequencing results.
However, what researchers can draw upon more reliably from sequencing results are genetic risks. As a more popular example, genetic counselors have been able to identify from extensive testing that individuals with a mutation in the BRCA1 or BRCA2 gene have around a 40 percent higher chance of acquiring breast cancer in their lifetimes.
Because of the inability of researchers to pinpoint exact risks of certain genetic diseases, obtaining information about one’s genetic risk for a disorder can have severe impacts on quality of life and cause significant stress. This can lead to potential stereotyping and stigmatization from members of other populations.