Human Genome Project

and Genetic Testing

What is Human Genome Project?
 It was an international scientific research project with a
primary goal to determine the sequence of chemical base
pairs which make up DNA and to identify the approximately
25,000 genes of the human genome from both a physical
and functional standpoint.
 The project began in 1990 initially headed by James D.
Watson at the U.S. National Institutes of Health. A working
draft of the genome was released in 2000 and a complete
one in 2003, with further analysis still being published. A
parallel project was conducted by the private company
Celera Genomics. Most of the sequencing was performed in
universities and research centers from the United States,
Canada and Britain. The mapping of human genes is an
important step in the development of medicines and
other aspects of health care.
 “Objective”
 While the objective of the Human Genome
Project is to understand the genetic
makeup of the human species, the
project also has focused on several other
nonhuman organisms such as E. coli, the
fruit fly, and the laboratory mouse. It
remains one of the largest single
investigational projects in modern science.
 The HGP originally aimed to map the
nucleotides contained in a haploid
reference human genome (more than
three billion).
 “Background”
 The Project was the culmination of several years
of work supported by the United States
Department of Energy. Particular in 1984-1986.
 Due to widespread international cooperation and
advances in the field of genomics (especially in
sequence analysis), as well as major advances in
computing technology, a 'rough draft' of the
genome was finished in 2000.
 In May 2006, another milestone was passed on
the way to completion of the project, when the
sequence of the last chromosome was
published in the journal Nature.
 “History”
 In 1976, the genome of the virus Bacteriophage MS2 was
the first complete genome to be determined, by Walter
Fiers and his team at the University of Ghent (Ghent,
Belgium).
 “Shotgun method” - the use of an algorithm that combined
sequence information from many small fragments of DNA
to reconstruct a genome. (Frederick Sanger, 1980).
 in 1998, the announcement by the newly-formed Celera
Genomics that it would scale up the shotgun sequencing
method to the human genome was greeted with skepticism
in some circles. The shotgun technique breaks the DNA into
fragments of various sizes, ranging from 2,000 to 300,000
base pairs in length, forming what is called a DNA
"library".
“Procedure”
 Gel Electrophoresis
 It is a technique
used for the
separation of
deoxyribonucleic
acid, ribonucleic
acid, or protein
molecules using
an electric
current applied to
a gel matrix.
 HGP in “Progress”
 A graphical history of the human genome project shows
that most of the human genome was complete by the end
of 2003. However, there are a number of regions of the
human genome that can be considered unfinished:
 1. the central regions of each chromosome, known as
centromeres, are highly repetitive DNA sequences
that are difficult to sequence using current
technology.
 2. the ends of the chromosomes, called telomeres, are also
highly repetitive, and for most of the 46 chromosome
ends these too are incomplete.
 3. there are several loci in each individual's genome that
contain members of multigene families that are difficult to
disentangle with shotgun sequencing methods - these
multigene families often encode proteins important for
immune functions.
 “Goals”
 "The ultimate goal of this initiative is to
understand the human genome" and
"knowledge of the human genome is as
necessary to the continuing progress of
medicine and other health sciences as
knowledge of human anatomy has been for
the present state of medicine.“
 Another, often overlooked, goal of the HGP is the
study of its ethical, legal, and social
implications. It is important to research these
issues and find the most appropriate solutions
before they become large dilemmas whose effect
will manifest in the form of major political
concerns.
 “Benefits”
 It is anticipated that detailed knowledge of the human
genome will provide new avenues for advances in
medicine and biotechnology.
 Clear practical results of the project emerged even before
the work was finished. For example, a number of
companies, such as Myriad Genetics started offering easy
ways to administer genetic tests that can show
predisposition to a variety of illnesses – e.g cancer,
cystic fibrosis, etc. . .
 deeper understanding of the disease processes at the level
of molecular biology may determine new therapeutic
procedures.
 is also opening new avenues in the study of the theory
of evolution.
 In the future, HGP could possibly expose new data in
disease surveillance, human development and
anthropology.
 “Estimated Funds”
 Originally it was estimated that it
would cost around $4 billion but
may well cost more.
 “Ethical Issues and Criticisms”
 HGP is controversial because of the high cost and because
many critics believe that sequencing a huge amount of
noncoding DNA should have low priority in a time of limited
funds for research.
 It is comparable against other mega-science projects such
as the space station or the superconducting
supercollider: The high cost is not justified. This big
science vs. little science argument maintains that
funding such large-scale projects takes scarce
resources from researchers who may study certain
areas of particular interest more efficiently.
 Some critics suggest that the ability to diagnose a genetic
disorder before any treatment is available does more
harm than good because it creates anxiety and
frustration. E.g., the mutation in the beta-globin gene that
results in sickle cell disease was identified in 1956,
but there is no treatment as yet.
 The lack of a definitive sequence creates uncertainty
about the appropriate definition of "normal," which in turn
makes the discussion of public policy issues difficult.
 Few religious groups in the United States
formally have addressed the specific
ethical and public policy issues raised by
the HGP, although there is active
interdenominational discussion of issues
related to human genetics in general.
Public policy debates are enriched
considerably by input from these various
groups.
 Of course, like any other issues HGP is
“playing God.”
“Pictured Ideas”
“God’s Response”
Genetic Testing
 Genetic testing allows the genetic diagnosis
of vulnerabilities to inherited diseases, and
can also be used to determine a person's
ancestry.
 It identifies changes in chromosomes, genes,
or proteins.
 It is "the analysis of RNA, chromosomes
(DNA), proteins, and certain metabolites in
order to detect heritable disease-related
genotypes, mutations, phenotypes, or
karyotypes for clinical purposes " (Holtzman
& Watson 1997). It can provide information
about a person's genes and chromosomes
throughout life.
 “Types”
 Newborn screening: Newborn screening is used just after birth
to identify genetic disorders that can be treated early in life.
 Diagnostic testing: Diagnostic testing is used to diagnose or rule
out a specific genetic or chromosomal condition.
 Carrier testing: Carrier testing is used to identify people who
carry one copy of a gene mutation that, when present in two
copies, causes a genetic disorder.
 Prenatal testing: Prenatal testing is used to detect changes in a
fetus's genes or chromosomes before birth.
 Predictive and presymptomatic testing: Predictive and
presymptomatic types of testing are used to detect gene
mutations associated with disorders that appear after birth, often
later in life.
 Forensic testing: Forensic testing uses DNA sequences to
identify an individual for legal purposes.
 Research testing: Research testing include finding unknown
genes, learning how genes work and advancing our understanding
of genetic conditions.
“Sample Procedures”
 “Cost”
 The cost of genetic testing can range
from under $100(£50) to more
than $2,000(£1000), depending on
the nature and complexity of the
test. The cost increases if more than
one test is necessary or if multiple
family members must be tested to
obtain a meaningful result.
 “Risk and Limitations”
 The physical risks associated with most genetic tests are very
small, particularly for those tests that require only a blood sample
or buccal smear but The procedures used for prenatal testing
carry a small but real risk of losing the pregnancy (miscarriage)
because they require a sample of amniotic fluid or tissue from
around the fetus.
 Many of the risks associated with genetic testing involve the
emotional, social, or financial consequences of the test
results.
 People may feel angry, depressed, anxious, or guilty about
their results. In some cases, genetic testing creates tension
within a family because the results can reveal information about
other family members in addition to the person who is tested.
 Genetic testing can provide only limited information about an
inherited condition. The test often can't determine if a person
will show symptoms of a disorder, how severe the
symptoms will be, or whether the disorder will progress
over time.
 Many people are also concerned about the privacy implications
of genetic testimony. In the United States, federal law requires
that this kind of medical information to be kept confidential.
 “Ethical Issues and Criticisms”
 Information from genetic testing can affect the lives of
individuals and their families. There are 3 main issues
concerned about genetic testing:
 1. Privacy - the rights of individuals to maintain privacy.
Some genetic tests are required or strongly encouraged for
developing fetuses and newborn babies. If an infant is
found to be a carrier or likely to develop or be affected by
an inherited disease, these findings may affect the future
employability or insurability of the individual.
 2. Informed consent - obtaining permission to do genetic
testing. One must have knowledge of the risks, benefits,
effectiveness, and alternatives to testing in order to
understand the implications of genetic testing.
 3. Confidentiality - acknowledgment that genetic
information is sensitive and access should to limited to
those authorized to receive it.
“Pictured Thoughts”
 “FAQ’s”
 “Are genetic tests reliable and
interpretable by the medical
community?”
 “Do people's genes make them
behave in a particular way?”
 “Will HGP deliver a great impact in
improving the human life?”
 “Who owns and controls genetic
information?”
 “How do we as a society balance
current scientific limitations and
social risk with long-term benefits?”
 END
Prepared by:
Barron, Emmanuel John V.
Q3A
*(Words/Phrases/Sentences w/c are bold & has
black font represent main ideas)