The Human Genome

· 2· Project
Writing the book of life

Pre-reading
Using the following questionnaire, interview your classmates, colleagues, family,
and friends. Answers are provided in the answer key.

Questionnaire A B C
1. What is a genome?
a. A group of related genes
b. The complete set of a species’ genes
c. Someone who studies genes
2. How many chromosomes does one human cell
contain?
a. 40
b. 46
c. 48
3. What do we call the genes that determine gender
(male or female)?
a. X/Y
b. A/B
c. M/F
4. About how many genes are there in the human
genome?
a. 2,500
b. 20,500
c. 205,000
5. How many nucleotides make up DNA?
a. 2
b. 4
c. 6
6. Where do genes come from?
a. The mother
b. The father
c. Both parents

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Predicting content
Considering the title of the chapter, predict which of the following topics will not be
mentioned in the reading text.
□ What genetics is about
□ The Human Genome Project’s goals
□ Only the benefits of the project
□ What scientists and researchers were involved in the project

□ The dangers of the project

□ How much the project cost

Reading text
1 In 1990, the United States National Institutes of Health (NIH) and the Department of Energy,
in collaboration with partners in 18 countries, embarked on the Human Genome Project (HGP),
the most ambitious venture undertaken since the Manhattan Project to develop the atom bomb
or the Apollo project to put a man on the moon. At an estimated cost of $3 billion to complete
the task by 2005, leading scientists and researchers in the field of molecular biology set out to
identify all 30,000 to 40,000 genes belonging to the human genome and to map the location of the
three billion base pairs of DNA—in other words, to write the Book of Life. This definitive resource
was intended to lead to the understanding of genetic diseases, the creation of effective pharma-
ceuticals and medical treatments, and the alleviation and prevention of human suffering due to
genetically transmitted diseases. In order to serve all of humankind and prevent control by any
scientific, corporate, or national interest, all information was to be stored in public electronic
databases and made freely and readily accessible to anyone who required it.

Historical background
2 Throughout history, people have turned to mythology, folklore, and religion for explana-
tions of life’s origins, and to this day there are many who firmly believe what has been written in
religious books and passed down from generation to generation. With the advent of the Age of
Reason in the eighteenth century and scientific advances in the nineteenth century, however, the
quest for deeper knowledge could be satisfied by digging for empirical evidence and putting it to
empirical test.
3 In 1865, Gregor Mendel, an Austrian monk who had been experimenting for eight years with
garden peas, announced to the scientific community that specific characteristics, or traits, were
transmitted from parent to offspring in an organized and predictable manner. Along with Charles
Darwin’s theory of natural selection and evolution as stated in his 1859 publication, On the Origin
of Species, Mendel’s work set the stage for the science of genetics to become the preeminent expla-
nation of where life comes from. With the help of improved microscopes, scientists discovered
the existence and structure of cells containing chromosomes. In the early 1900s, experiments with
fruit flies revealed that chromosomes located in the cell’s nucleus were made up of genes. The
Drosophila, commonly called the fruit fly, was the first living organism to be genetically mapped.
In 1944, Oswald Avery identified genes in bacteria as genetic messengers made of deoxyribo-
nucleic acid (DNA). In 1953, James Watson and Francis Crick discovered the double helix struc-
ture of DNA, for which they received the Nobel Prize nine years later.
4 With each groundbreaking discovery, molecular biologists were able to form an ever clearer
picture of the mechanics of life. To crack the code of life, prominent scientists proposed compil-
ing a comprehensive genetic map of a human being. Simpler organisms, such as the fruit fly and

The Human Genome Project: Writing the book of life 15

 bacteria, had already been genetically mapped, but due to technical limitations, attempts with
human genes had produced crude versions lacking precise detail. To duplicate, analyze, and store
human DNA on the scale that was being proposed, more sophisticated tools and advanced tech-
nology would have to be developed.
5 In the 1980s, technology was making great strides. The development of recombinant DNA
technology enabled researchers to split long strands of DNA into fragments and to splice and
copy specific genes for study. Rapid advances in the 1960s and 1970s had produced machines like
the polymerase chain reaction (PCR) machine, or DNA amplifier, that could duplicate DNA
faster and cheaper. Developments in computer technology, in particular the invention of the sili-
con semiconductor chip, had made it possible for huge amounts of data to be analyzed at greater
speeds and stored on more compact, portable, and affordable personal computers. Finally, the
Internet provided a means for institutions to share and distribute information quickly and widely.
6 At the same time, the world was becoming more genomic. The discovery of the gene that led
to Huntington’s disease and the Federal Drug Administration’s approval of synthetic insulin, bio-
technology’s first pharmaceutical product, ignited hopes that once the genetic causes could be
determined of such debilitating diseases as muscular dystrophy, cystic fibrosis, and sickle-cell
anemia, effective drugs and treatments for cancer and heart disease would eventually follow.
Emerging biotechnology companies were making headlines, and their stocks were soaring on
Wall Street. In general, biologists agreed that the project could be accomplished, but not everyone
believed that it should be done.
7 Despite ethical considerations and doubts that the project would bring about the desired
results, widespread enthusiasm for the project’s immense potential led to a series of meetings
and conferences in 1986 and 1987 to set goals, to estimate the required outlay in money, time, and
human resources, and to generate information for the government agencies and institutions that
would provide the financial resources. When the U.S. Congress allocated funding to the NIH and
the Department of Energy, the Human Genome Project was on its feet.
8 In September 1999, the Human Genome Project announced that 200 scientists working on
three continents had assembled 25 percent of the entire genetic sequence. By February 2001, the
HGP had published its first draft of 90 percent of the human genome in special issues of Science
and Nature. In April 2003, two years ahead of schedule, the project succeeded in completing the
sequencing of 99 percent of human genes to 99.99 percent accuracy, with 341 gaps. Even before
its completion, the Human Genome Project and the information disseminating from it were
opening doors in the fields of medicine, energy, the environment, agriculture, bioarchaeology,
anthropology, and forensics.

Medical benefits
9 The Human Genome Project’s ultimate goal was to provide fundamental genetic informa-
tion that would lead to the treatment, and eventually the eradication, of many of the 4,000 genetic
diseases and defects that afflict humans. As diagnostic genetic tests become more sophisticated
and available, doctors will eventually put together genetic profiles for patients, determine their
risk for disease, and make diagnoses before individuals become sick—or before they are even
born. With the focus on preventing disease, doctors can begin to provide genetic counseling to
families who want to understand their genetic background, as well as to couples who are planning
a family. Advances in computer hardware and software will allow doctors to analyze biological
samples more quickly and cost-effectively and to transfer the information to patients’ computer-
ized files, which they will then carry with them on computer chips. On the basis of this informa-
tion, it will be possible to predict an individual’s susceptibility to drugs and to environmental
factors that are responsible for allergies.

16 practice makes perfect Advanced English Reading and Comprehension

10 The HGP will revolutionize not only how doctors treat patients but also how medical ther-
apy is delivered, particularly in the emerging field of pharmacogenomics. An online article pub-
lished on the Human Genome Project Information website predicts that up to 3,000 new drugs
will have been developed, tested, and marketed by 2020. These products will generate sales in the
billions of dollars for biotech and pharmaceutical companies, as researchers use genome targets
to design and customize more effective drugs with fewer side effects, to eliminate adverse drug
reactions in patients, and to make intervention more precise and successful. In addition, inexpen-
sive vaccines will be engineered to activate the immune system without causing infections. In the
long run, these improvements are expected to reduce the overall cost of health care. Although
areas such as the cloning of organs for transplants have yet to be fully explored, the potential for
life-saving and life-enhancing advances is vast and exciting.

Ethical, legal, and social issues

11 Although the Human Genome Project’s picture of human health in the future appears rosy
and immensely hopeful, it has its darker side. From the outset, the HGP specified as one of its
goals the need to examine the ethical, legal, and social issues (ELSI) involved in making genetic
information available. Between three and five percent of HGP’s annual budget was allocated for
this purpose. If the HGP is to serve humankind as intended, laws and regulations must prevent
abuse and misuse of this information.
12 At the forefront of ELSI was the concern that employers and insurers could discriminate
against employees and deny coverage on the basis of genetic test results. In May 2008, the Genetic
Information Nondiscrimination Act (GINA) made it illegal for employers, insurers, courts,
schools, and other entities in the United States to discriminate on the basis of genetic informa-
tion. The potential for social stigmatization of individuals on the basis of their genetic makeup
and the ensuing psychological suffering cannot be overlooked or minimized.
13 Sensitive issues of privacy, confidentiality, and ownership of genetic information that can
only be dealt with through strict legislation are accompanied by philosophical and ethical issues.
Scientists now know the location of genes on a chromosome, but it will take further research
before they understand how genes work and how environmental factors come into play. This
complexity makes it extremely difficult, if not impossible, for anyone to predict the outcome of
what critics call tampering with nature or playing God. Although the idea of creating designer
babies may seem attractive to some, the birth of a genetic elite brings to mind the practice of
eugenics and the disastrous attempts of past regimes to create a superior race. Without clear ethi-
cal guidance, humankind’s progress could end up in territory we should never have set foot in.

The Genomic Era

14 Regardless of the direction in which the Human Genome Project will take humans in the
future, it has already ushered in the Genomic Era, and there is no turning back. One comfort lies
in the fact that the completion of the Human Genome Project is really only the beginning of a
long and uncertain journey of studying, interpreting, and applying the information it has
amassed. How wisely that information is applied, or not applied, will determine the Human
Genome Project’s real value.

After reading
In the Pre-reading section, check to see if your predictions about the reading text were correct.

The Human Genome Project: Writing the book of life 17