Genomics, Rights, and Justice

To able to fully understand the ethical, legal and economic issues that surround genomics, rights, and justice, it is imperative that the underlying science and technology is understood. By comprehending the science dealing with the following case studies and technologies, it will allow one to realize how ethical, legal, and economic issues were formed and the persuasion science and technology has on these issues.

Outline

 I. Background

II. HeLa Cells

III. Tuskegee and Arizona State University Cases

IV. Human Genome Project

V. CRISPR

 

I. Background

Each human being’s existence can be owed to microscopic molecule known as deoxyribonucleic acid (DNA), Homo sapien cells have 23 pairs of chromosomes that are composed of DNA. The DNA sequence encoding these genes is made up of complementary strands, wound into a double helix, and consist of four base pairs: adenine, thymine, cytosine and guanine.

The composition and ordering of nucleic acids result in unique DNA sequences, which correspond to specific physical traits. These physical traits are characterized by specific genes, units of heredity that occur at specific locations in specific chromosomes. Due to the variety of composition of DNA sequences, there are multiple versions of genes, alleles. These alleles ultimately determine the genotype (genetic composition) and phenotype (physical composition) of an organism.

Although a relatively simple molecule, DNA encodes for every function carried out by a person in their lifetime. We all have a unique genome, which is why no two people are genotypically or phenotypically alike. Due to various modes of DNA abnormalities, genetic diseases may occur. An inherited genetic disease occurs when unfavorable alleles of a gene are passed down to a child through heredity. They are often very burdensome and sometimes fatal at early ages.

II. HeLa Cells

The famous first strain of immortal cells: HeLa, were collected from Henrietta Lacks in 1951. John Hopkins Hospital had a policy that poorer, and most often racial minority, communities could come in for treatment and that samples would be taken, in lieu of pay, for research. The doctor who examined Henrietta’s tumor took two small samples: one sample was kept by the hospital for medical assessment, the second sample was sent to George Gey who was studying cervical cancer. HeLa were the first cells to grow well in a lab environment, a culture of HeLa cells would double in size every twenty-four hours. Gey began sending samples all over the world which in turn spurred medical research to finding multiple cures and treatments because HeLa is excellent at assimilating foreign DNA. However, the family did not learn of the research till almost twenty years later when a researcher contacted the family about receiving samples from the children to see if a containment method could be derived for the infectious nature of the HeLa cells.

Despite the lack of communication between the Lacks family and scientific community, HeLa is still widely used and is considered canon in many medical communities now with consent from the Lacks family.

HeLa exemplifies the good and positive progress of sampling human tissues while also highlighting the importance of informed consent.

 

III. Tuskegee and Arizona State University Cases

Havasupai v. Arizona State University Board of Regents

Havasupai Study

The Havasupai study used blood samples from Havasupai tribe, and was collected by ASU researchers for genetic research (Garcia-Santillan, 2017). The means for collection of the samples was unethically obtained, primarily due to the misleading vernacular of the consent forms. The misuse of the blood samples was partly due to the fleeting scientific advancements in the field of genetics during the late 1900’s (Garcia-Santillan, 2017). The scientific basis for the Havasupai case relied on basic DNA sequencing using fluorescent labels.

Scientific Background of Havasupai case:

• This method of DNA sequencing relies on in vitro DNA replication, as it utilizes chain-termination of fluorescently labeled dideoxynucleotides (ddNTP) to create fragments that cut off at subsequent nucleotides.
• The sequencing method is analyzed by using gel electrophoresis for fragment identification, or by using a fluorescent detector for fluorescent peaks.
• Methods can be used to accurately yield complete DNA sequences, which can then be used to compare with other DNA sequences for genetic studies.

Tuskegee syphilis study

https://www.youtube.com/watch?v=vCHU1-UKNQg

Scientific findings from syphilis study:

• The only findings from this study which was not very important information that was not already known was that,  the final stages of syphilis are  known to be very dangerous and deadly. The bacteria Treponema pallidum invades the cardiovascular system, nervous system, bones and joints. Tumors may occur on skin and bones, and also may lead to paralysis; the damage at this point will be irreversible. This findings and data came about by observing the progression of syphilis in these males up until their death.

 

IV. Human Genome Project

From 1990 to 2003 scientists from around the world came together to sequence the human genome, something that had not been done before (National Human Genome Research Institution, 2017). This massive endeavor was called the Human Genome Project. The project had two phases: the shotgun phase and the finishing phase (Chial, 2008). During the shotgun phase the genome was cut into smaller more manageable pieces (TED-Ed, 2015). It was then divided further into pieces where there was an overlap of DNA (TED-Ed, 2015). The overlap would allow computers to assemble the pieces into the correct order of the whole genome.

However, before the computer put the genome together, the DNA had to be sequenced by the Sanger method; the first step in this method was to separate the two DNA strands by heat (Khan Academy). A primer, which is a few nucleotides long, was added as a starting point for DNA synthesis. DNA polymerase was added in order for the DNA to synthesize. The new DNA strand was made until a type of nucleotide called a dideoxy nucleotide was added. This type of nucleotide does not have any –OH groups thus the DNA polymerase was not able to add any more nucleotides after it (Khan Academy).. With the addition of a different colored dye to each dideoxy nucleotide, A, T, G, and C, scientists were able to distinguish between each nucleotide. By doing process for each type of nucleotide, they were able to stop the strands at each A, T, G, and C present in the sequence. The finishing phase dealt with the parts of the genome that was not sequenced through the shotgun phase (Chial, 2008). The information from both phases was inputted in a computer program that would then produce the whole genome sequence using the dye that labeled each nucleotide.

Although 90% of the human genome was sequenced, it is still not known what all these nucleotides code for.

 

V. CRISPR

The CRISPR-Cas9 technology was derived from an ancient bacterial immune response mechanism, which specifically defends against invading viruses. They consist of repeated sequences of DNA that are interrupted by “spacer” sequences which are genetic remnants of past virus invaders. This “memory” allows the cell to identify and kill any viruses that return. Researchers have managed to utilize the CRISPR system in order to perform gene editing. This is done by transcribing the CRISPR “spacer” sequences into CRISPR RNA (crRNA) that guide the system to the matching sequence of DNA. Once the target is found Cas-9, an enzyme produced by the CRISPR system, can bind to and cut the DNA using a nuclease. Scientists have even managed to engineer the CRISPR system to insert DNA into the cut sites, effectively allowing us to replace a mutated gene with a healthy one.

The best potential use for the CRISPR-Cas9 system is to cure inherited genetic diseases. Some of the most serious and debilitating genetic diseases are a result of a very small mutation in one specific gene. These diseases include cystic fibrosis, muscular dystrophy, sickle cell anemia, cancer, and even inherited HIV genes. If recognized early enough, an engineered CRISPR-Cas9 system could be injected into early stage embryos to inactivate these mutated genes, and replace them with fully functional ones (Hooven, 2017).

“Not only could we eliminate the suffering and healthcare burden that comes with these diseases, we could also start the process of removing these diseases from our entire population” (Hooven, 2017).

However, the technology is still in its primitive form, and further research needs to be done to correct some technical issues, which include low efficiency rates when trying to correct single alleles in embryos. CRISPR-Cas9 could also be used to “knock out” genes that still have an unknown function in living cells (Hooven, 2017). This would allow us to study the effects in order to gain understanding into what purpose a specific gene possesses.

One of the major controversies surrounding this new technology is germline editing. Germline editing is the genetic engineering of reproductive cells (sperm, eggs and early embryos).

The primary concern is that germline edits are heritable and since we do not fully understand all the implications this may have on future generations we should be very cautious in how we utilize this technology until we have a better understanding.

Another, more subjective, argument is that gene editing is too powerful of a tool for humans to possess. Our genomes have been slowly altered and modified through natural selection over the course of billions of years and the idea of scientists artificially modifying genomes is seen as scientists overstepping their bounds and “playing God” by many people.

For more info on CRISPR, listen to Radiolab’s podcast on the topic.

About Us

The content in this webpage may or may not reflect each individuals views on the topics.

References

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