Amaan Syed

Jan Babcock

ENGL 137H

6 November 2023

The Genetic Revolution

For decades, scientists have been trying to understand the fabrication of humans, and

what makes every single human different. Each occurrence of similarities within people came

with just as many confounding differences, and this puzzle sparked a movement to seek any sort

of insight to form a deeper understanding of the essence of humans. This movement became

known as the genetic revolution, filled with astounding discoveries that built off one another.

With pea plants came the birth of modern genetics, as Gregor Mendel paved the way to the

basics of heredity and laid the foundation for the field of genetics or the study of genes. Creating

specific laws for inheritance, Mendel displayed a transitive application to humanity. Describing

how traits are passed from one generation to the next coupled with the facet of independent

inheritance, Mendel created a new perspective on biology. Through quantitative analysis of his

experiments, Mendel discovered that traits are inherited in discrete units (genes) and determined

by two factors, one from each parent. With this, scientists began to unravel the fascinating field

of genetics and provided an entire shift in the overarching field of biology with applications in

the healthcare and medical community as well. Notable researchers and scientists in the mid-

1950s like Oswald Avery and Erwin Chargaff took inspiration from Mendel’s work and through

discovery, established DNA as being the transforming principle responsible for hereditary factors

in species. This created a breakthrough for scientists to use at the tail end of the 20th century,

initiating a frenzy to crack ‘life’s code’. Leading scientists like Marshall Nirenberg and Fredrick
Sanger unraveled sequencing techniques, detailing which nitrogenous bases had made up a

codon (a set of three nitrogenous bases that code for a protein) and specific regions in DNA

strands. From this, one of the most revolutionary scientific endeavors of the genetic revolution

was born: The Human Genome Project. Officially started in 1990, the goals of the project were

to sequence the entire human genome in addition to a select few other organisms. (NHGRI 2022)

In determining the exact order of bases in DNA, (the As, Cs, Gs, and Ts that make up segments

of the DNA), the project furthered the practical use of DNA sequencing, drawing on the methods

of Fredrick Sanger and his DNA sequencing to create a foundation for scientists to base their

endeavors on. Through technological innovations, this technique was rapidly developed and

implemented in the scientific community. With such a revolutionary project, the avenues for

many dystopian fantasies presented themselves. This major shift from basic genetics and

hereditary has now opened to utilizing new technologies and techniques like gene editing to

further the approach of counteracting once untreatable diseases. It is for this reason that the

genetic revolution, from the birth of genetics in the late 1800s to the present day, has been

deemed an influential factor in revolutionizing the perspective of modern-day scientists and

additionally creating wide-implicating solutions to problems afflicting the healthcare world at a

high level. Regarding the newest additive in the genetic revolution, gene editing, this

unprecedented ability to manipulate and engineer the very building blocks of life has

undoubtedly created a milestone of scientific and ethical significance. But to understand the full

extent of the impact of the power that humanity now holds, one must analyze the previous state

of genetics before such a monumental achievement that provided a cascade of events to change

the world of science forever.

 Perhaps the discovery that kickstarted the genetic field frenzy was the work of Watson

and Crick in the 1950s. However, the duo had analyzed the work of a scientist before them by

the name of Rosalind Franklin. Franklin worked on imaging high-resolution photographs of

DNA fibers. Through this imaging, she was able to deduce that DNA was a helical structure

through calculations and identification of phosphate groups outside of the structure. (“The

History of DNA Timeline”) She was close to discovering the actual structure of DNA but had

lost a bout to cancer before she could continue her research. Watson and Crick analyzed her

pictures with the assistance of model building during her final years and produced their famous

paper outlining the structure of DNA. Even though Franklin’s picture had been vital to Watson

and Crick’s solution, she was not posthumously honored with the Nobel Peace Prize that Watson

and Crick had received. This also displayed the disparity in such a male-dominant field at the

time, which contrasts with today’s day and age where there are many recognized contributors to

the field of science, especially women. For reference, Jennifer Doudna and Emmanuelle

Charpentier were French and American women scientists who invented the gene editing

technology of CRISPR-Cas9 and were awarded a Nobel Peace Prize.

It was after Watson and Crick’s discovery, however, that the prospect of the genome and

further ideas began. With new experiments led by Marshall Nirenberg in 1961, it was proven that

the genetic code could be broken and modifiable after Nirenberg and his team realized that a

repeating sequence of uracil would force the coding of the amino acid phenylalanine. This

provided a breakthrough in scientific theory and forever changed the perspective on DNA.

Previously thought to be untouchable and complex, the continuous advances in the field of

genetics in the 20th century had given rise to new applications and thinking of scientists when it

came to genetic code, motivating them to dig deeper.

 Another significant subevent of the genetic revolution was the Human Genome Project.

After realizing the potential of being able to sequence organisms to pinpoint what characteristics

or features resulted from a given DNA region, a special committee of the U.S. National Academy

of Services outlined the goals of this project in 1988, and officially began in 1990. The U.S.

Department of Energy (DOE) and the National Health Institute published a plan for the first five

years of the anticipated 15-year project at this time. It is important to note that many

organizations in the past had a long-standing interest in mapping the human genome for the sake

of advancing medicine, as being able to pinpoint the exact areas that may contribute to a specific

characteristic or trait of an individual would undoubtedly be very beneficial to doctors and other

healthcare professionals. Another facet to consider as to why the project was undertaken would

be the opportunity to detect mutations that nuclear radiation might cause.

Alongside the discovery of the double helix structure in the 1950s, the new technology of

X-rays and the establishment of fluoroscopy (continuous X-ray for real-time images) became

quickly popular, even reaching the consumer level. Rising reports of burns and other skin

damage after X-ray radiation exposure were overlooked, as products like shoe-fitting

fluoroscopes were popular from the 1930s to the 1950s. (A & E Television Networks 2022)

However, after more reports and studies, the practice was rightfully seen as more dangerous than

beneficial. Experiments by scientist Hermann Joseph Muller, for example, found a strong

relationship between X-ray dose and genetic damage when exposing fruit flies to continuous

radiation, becoming the first direct evidence of genetic effects from radiation, and effectively

eradicating fluoroscopy at the consumer level. (Nett 2021) It was for this reason that after the

monumental discovery of the genetic code, scientists theorized the effects of radiation on the

genetic level so that it could have significance in the medical field as well.
 Because of the newfound knowledge stemming from Watson and Crick’s discoveries as

well as the detrimental effects of radiation from X-rays, the shift of medical practices and focus

on dissecting the genome of humans was of utmost importance. As mentioned previously, the

Human Genome Project’s goals were to map and determine each of the 3.2 billion letters that

compose the human genome and other notable organisms like the mouse and the rat. However,

many other effects came about during the undertaking of this project.

While not a direct goal, converting cutting-edge technology into mainstream practices

was another result of the project, as the purpose of the new machines developed during this time

was to analyze DNA efficiently. Automation of the Sanger DNA sequencing and creation of

DNA-based markers helped scientists to effectively utilize their resources and speed up the

process of sequencing as a result. (NIH 2012) Previously having to spend countless hours in the

labs sequencing and observing results, scientists could now use computational power to help

them quickly identify bases, having a colossal effect on the future of biomedicine and genome

research.

An equally important effect to consider of the Human Genome Project would also be the

societal, legal, and ethical implications of genome research, including the data-sharing policies in

the scientific community. The Human Genome Project scientists had made every part of the

original draft of the project available publicly. After meetings with various personnel around the

globe, certain rules called the “Bermuda Principles” were established for the sharing of

biomedical data on a large scale. It would pertain to the data of the project and any future

sequencing data, requiring that all DNA sequence data recorded be released in publicly

accessible databases. This shift had heavily contradicted policies of scientific research and data

beforehand, as the typical practice in the sciences was to make experimental data available only
after publication. This new principle has reshaped the practices of an entire industry, as now

more than ever, pre-publication data is freely available for anyone to view, and not just limited to

the genetic field for that matter.

It is clear to see what an undertaking this project was, and how it revolutionized the field

of medicine and technology for future generations, presenting an obvious shift. In today’s

modern day and age, specific genes associated with conditions and diseases like cancer, genetic

disorders, and further neurodegenerative diseases can now be quickly pinpointed, and scientists

can create more targeted therapies and diagnostic tools. This provides a new wave of

personalized medicine to the forefront of healthcare. But there are also ethical implications to

consider, which also provide a different shift in the field. Concerns ranging from genetic privacy

to the discrimination of an individual due to their genetic profile are all valid ideologies that must

be considered moving forward. With increased accessibility also comes decreased privacy.

Understandably so, individuals are more likely than not uncomfortable with such genomic data

sets widely available. Genetic information is highly personal, and individuals may not want their

data to be accessed or used without their informed consent. As mentioned, discrimination can

also play a factor, especially in the workforce. Employers or insurance companies might misuse

genetic information to make hiring decisions, which could lead to unfair treatment and biases.

While the advancement of the genetic revolution brings about new changes, it also possesses

some concerns as well, especially as new technologies are being created as a direct result of the

Human Genome Project.

One of the most recent notable events of the genetic revolution that quickly followed the

Human Genome Project would be none other than the development of the technology of

CRISPR-Cas9. This revolutionary tool was developed very recently in 2012 by Jennifer Doudna
and Emmanuelle Charpentier and completely changed the balance of man against nature.

Enabling precise and targeted modifications to an organism’s DNA, the implications of this

technology are limitless. A vision of correcting genetic defects, eliminating disease-causing

mutations, and even perhaps creating designer organisms cut out to the specifications of one’s

desire are all now a very striking reality. CRISPR stands for Clustered Regularly Interspaced

Short Palindromic Repeats, while Cas9 is the protein that is associated with the technology. The

system works as CRISPR “spacer” sequences are transcribed into short RNA sequences which

guide the organism to match with potential sequences of DNA. This RNA, called guide RNA,

guides Cas9 to a specific region of the genome ensuring that the correct region of DNA is cut.

Once the target region is located, Cas9 acts as a molecular scissor of sorts and snips out the

region, therefore either deactivating or activating the gene that is of interest. At this point, the

cell will sense that the DNA strand is damaged and attempts to repair it. Scientists can even go a

step further to attach a template DNA strand to Cas9, leading to a desirable expression, or

hindering of the gene. This leads scientists to believe that theoretically, the technology can be

used to modify “typos” in the genes due to any sort of mutation. This would look like correcting

a faulty gene that is causing a disease to either stop being expressed or be cut out and then

replaced with the correct sequence so that the gene can work properly once more.

This technology completely revolutionized the modern thinking of scientists and health

professionals, who would previously not have many treatment options to suggest for patients

suffering from genetic conditions that severely affected their health. Hereditary conditions

thought to be untreatable like hemophilia, cystic fibrosis, Alzheimer’s, Parkinson’s, and many

more may now have a chance of being effectively treated and even eradicated to some capacity.

The effect of this technology is massive, as this gives health professionals another tool to be used
as therapy and overall treatment. This reinforces the emphasis on the importance of genes as an

integral part of the treatment and diagnosis process and as an influential facet of the onset of

disease. With the additional advances made in genomics with the Human Genome Project, the

field of genetics is becoming increasingly prevalent in day-to-day discussions, which contrasts

the previous state of the medical world where genetics were seen as a very foreign concept that

could not be unraveled nor changed.

However, with such a revolutionary technology, there were similar concerns expressed to

that of the Human Genome Project. Societal, legal, and ethical concerns were voiced, as the

perennial question was to be asked if humans even had a right to tinker with life’s code in the

first place and interfere with the sanctity of life. Mass usage of this technology could cause

unforeseen consequences, like off-target effects, inequality, and privatization of the technology.

Even more so, a considerable idea had been brewing in the scientific community about the

hypothetical situation of “designer babies.” Novelist Kazuo Ishiguro who published Never Let

Me Go expressed his genuine concerns about society and the direction that it is headed after the

development and early beginnings of CRISPR, stating that “we’re coming close to the point

where we can create people who are superior to others.” (Ball 2017) His dystopian novel

described children produced and reared as organ donors. This prospect of creating new

generations that only express specific and desirable traits such as heightened intelligence or

physical appearance portrays another dystopian outlook on the technology, raising serious moral

questions about the ethical limits of genetic modifications for non-medical purposes. Even if it

were to be implemented, inequality would very quickly follow suit. With the expensive nature of

regular treatments as is for disease, one can only imagine the steep price of this gene editing

technique. Analysts predict it could range between $1 to $3 million for a single treatment.
(Innovative Genomics Institute 2022) Only those with the means to access the technology can

benefit from any genetic enhancements or treatments stemming from CRISPR-Cas9, which

raises concerns about this technology even further contributing to already social and economic

disparities within the field of healthcare. The limited availability and affordability of such a

technology additionally add to lingering uncertainty about unintended consequences like off-

target effects. Unintended changes in the genome could lead to health problems and even more

so, long-term consequences are not yet fully understood by scientists.

As one may be able to deduce, a common trend here is beginning to form with the

continuation of the genetic revolution, especially as of late. With each advance being made and

promising implications resulting, adverse effects are still present and require more vigorous

testing to deem these advancements as viable and safe for the betterment of society at large.

From the humble beginnings of Gregor Mendel's discovery with his pea plants and

foundational laws of inheritance to the discoveries of Watson and Crick followed by the

subsequent undertaking of the Human Genome Project using Sanger’s DNA sequencing

techniques, the journey of the genetic revolution has been nothing short of extraordinary. With

the culmination of the Human Genome Project, the essence of life in the form of genetic code

has provided scientists and healthcare professionals with insight into the complexity of the

human organism.

The recent developments in technologies like CRISPR-Cas9 have vaulted humanity into

an era of unprecedented power over the very building blocks of life. With the potential to cure

once untreatable diseases, eliminate mutations causing a variety of health problems, and even

create organisms tailored to specific desires and characteristics, the possibilities are far-reaching.
 But, as with any great scientific leap, the genetic revolution comes with a degree of

uncertainty and ethical concerns. Questions about privacy, discrimination, and inequality have

come to the forefront of discussions considering the recent advancements in technologies and

therapies. The prospect of “designer babies” for example, comes with a potential divide between

the privileged and marginalized in society, which adds moral concerns to genetic treatments like

CRISPR-Cas9. While the genetic revolution provides solutions to previously impossible-seeming

problems, it also forces humanity to answer complex ethical questions about human intervention

with the genetic code. It is of essence that such a powerful tool be navigated with utmost caution

and ensure that society's safety and benefit are kept as a priority. In short, the genetic revolution

is an ongoing journey that has been marked in the past by shifts in both ideologies and

technologies. It serves as a reminder of the awe-inspiring strides that are made in this field that

change the view on principles that were once thought to be unchangeable not so long ago. Born

from curiosity but continued with innovation, the genetic revolution continues to thrive in this

age of discovery and does not look like it will be halting any time soon.
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