Bioethics

M.S.Ramaiah College of Arts, Science & Commerce
Department of Biotechnology
Seminar on
o Ethical implication of Human genome project,
o International ethical & legal issues connected with human genome o Presented by:
Sandipayan Dutta.
Genetic studies of ethnic races.
© Copyright. Sandipayan Dutta. 2014. All rights reserved

What is Bioethics?
o The term “bioethics” was introduced in the 70’s by
Van Rensselaer Potter for a study aiming at
ensuring the preservation of the biosphere.
o It was later used to refer a study of the ethical
issues arising from health care, biological and
medical sciences.
o It is a major area in applied ethics.

Human Genome: Ethics
The bioethics principles are based on: loving oneself, to
love life, justice and do good.
Three major ways of viewing Bioethics:
1. Descriptive bioethics: the way people analyze life as
affecting their responsibilities and moral actions.
2. Perspective bioethics: telling people what is acceptable
and unacceptable and the rights of others.
3. Interactive bioethics: the debate and discussions
involving people, societal groups and communities.

History of the human genome project
• Begun in 1990
• It was a large-scale global project, that involved
research teams in 20 different countries, allocated
over US$ 3 billion in public sector funding alone
• It was completed in the year 2003 which was two
years earlier than predicted.

Ethical reviews of the human genome project.
Biosafety: since the 1990’s, humans, plants, animals
were used to improve genetic standards through
technological advancement
Animal rights: Presence of protest against the use of
animals as subjects to dangerous experiments.

Biotechnology: Genes are the source of biotechnology and no
one is permitted to make financial profit of the human genome
in it’s natural state .e.g. from an ethical view, the termination of
the growth of seeds in its second generation are harmful in the
production of drugs.
Parental genetic testing: It allows the fetus to be analyzed to
detect heritable disorders which sometimes leads to abortion
which is a very sensitive ethical topic. Some people consider this
act to be ethical or unethical to manipulate the life of a living
being. Thus, EVERYTHING HAS A RIGHT TO LIVE.

Human reproductive technologies : It assists in
human reproduction of sperms donor, ovum donor or
surrogate mother. The controversy of the sperm bank
is the privacy of the parent vs the child’s right to
know his genetic father.

Human- Animal Hybrids
Hybrids is the combination of cells from different species which are referred to as
chimeras. President Bush gave a speech concerning this topic indicating science is going
beyond its boundaries and this experiment must be banned.

Social Implications
•Screening for genetic diseases
•Genetic matching
•Stigmatization
•Insurance companies

Genetic Screening
With the help of genetic screening, we can now detect diseases
such as:
• Huntington’s Disease
• Hemophilia
• Cystic Fibrosis
• DMD(Duchenne muscular dystrophy )
Do not make the dystrophin protein in their muscles.
• Cancers

Screening for Medical purposes
Better choices for medicine prescriptions:
Genetic information can help doctors make more informed decision
concerning medicine prescription which may reduce risks of side-effects.

Genetic Screening
Better choices for medicine prescriptions
- Allows Doctors to make better decisions when
considering what medication to prescribe to patients.
Have had a great influence on diseases like Hemophilia
and different kinds of cancers

Couple Screening
•Premarital screening
•partners may have a genetic makeup that
allows for diseases when combined
•Before deciding to have a baby, parents can
know which of their genes might be passed
on to the child

Good or Bad?
•Finding an untreatable disease can lead to
an unhappy and hopeless life.
•Life is put on hold just waiting for the
symptoms of a disease that might never
develop.

The Other Side of the Project:
Discrimination
• Stigmatization
• Who should have access to
your genetic information?
• How does personal
genetic information affect
an individual and society's
perceptions of that
individual?
• Insurance Companies
• Genetic information
denying rights of health
and life insurance.

Legal Implications of the human genome project
•Paternity test :
Is used to prove who the father of a child is.
•Crime scenes
 Can binned a suspect to a crime by
sequencing his DNA.

• CRIME SCENE • PATERNITY TEST

What does the future hold for us with
Genomics?
Developed by the National genome Research
Institute ( NHGRI)
Genomics to Biology
Genomics to health
Genomics to Society

Based on the Discussion Paper, "Ethical Issues in International Collaborative
Research on the Human Genome: The HGP and the HGDP,"
Bartha Maria Knoppers, LL.D., Member HUGO-ELSI Committee; Marie Hirtle,
LL.M. and Sébastien Lormeau, B.Sc., 1995.
The HGP, the HGDP, and other genetic research have given rise to a number of
concerns:
• Fear that genome research could lead to discrimination against and stigmatization
of individuals and populations and be misused to promote racism;
• Loss of access to discoveries for research purposes, especially through patenting
and commercialization;
• Reduction of human beings to their DNA sequences and attribution of social and
other human problems to genetic causes;
• Lack of respect for the values, traditions, and integrity of populations, families, and
individuals; and;
• Inadequate engagement of the scientific community with the public in the
planning and conduct of genetic research.

The HUGO-ELSI Committee has based its
recommendations on the following four principles:
• Recognition that the human genome is part of the common
heritage of humanity;
• Adherence to international norms of human rights;
• Respect for the values, traditions, culture, and integrity of
participants; and
• Acceptance and upholding of human dignity and freedom.

•Definitions:
•Race: a socially constructed category based on
observed phenotypic manifestations of
presumed, underlying genetic differences.
•Ethnicity: a grouping of persons according to a
shared geographic, national, or cultural heritage.
Encompasses both biological and non-biological
differences.

Research-based Definitions
• Federal Definitions of Race (5 minimum categories):
• White/Caucasian
• Black or African-American
• Asian
• Native Hawaiian or Other Pacific Islander
• American Indian or Alaska Native
• Federal Definitions of Ethnicity:
• Hispanic or Latino
• Not Hispanic or Latino
• Census 2000 Revision: Persons can report more
than one race

BACKGROUND
• In the U.S., 3 large scale epidemiological studies
have estimated prevalence of substance use, abuse,
and/or dependence:
--Epidemiologic Catchment Area (ECA): 1980-84:
5 community-based sites (n>20,000): structured DIS.
--National Comorbidity Survey (NCS): 1990-92:
National sample of 8,098 non-institutionalized
persons ages 15 to 54: structured CIDI.
--National Longitudinal Alcohol Epidemiologic
Survey (NLAES): 1992: National sample of 42,862
non-institutionalized adults: structured AUDADIS.

BACKGROUND
Epidemiologic Catchment Area (ECA):
•Prevalence rates of alcoholism similar between Blacks and
Whites, except in age group 18 to 29
(50% lower rates in Blacks).
•Lifetime prevalence of drug dependence 50% lower in Black
women ages 18-29 vs. White women
•Indicators of SES (education, income) generally
inversely associated with prevalence of alcoholism and drug
abuse/dependence.

BACKGROUND
National Comorbidity Survey (NCS):
•Blacks estimated to have 65% lower odds of substance use
disorder in their lifetime vs. Whites, and 53% lower odds in the
past 12 months.
•Among persons with lifetime drug dependence, Blacks 3 times
more likely to be dependent in the past 12 months vs. Whites.
•Education and income inversely associated with 1-year
prevalence of substance use disorder, and in particular, lifetime
drug dependence.

BACKGROUND
National Longitudinal Alcohol Epidemiologic
Survey (NLEAS):
•Odds of drinking >12 drinks on >12 occasions in the previous
year were 53% lower in Blacks vs. Whites.
•Among persons with lifetime alcohol dependence, Blacks 61%
more likely than Whites to be dependent in the past 12 months.
•Education and income inversely associated with 1-year
prevalence of alcohol and drug dependence.

Genetic Research in Racial and Ethnic Groups
In the early 1900s sickle cell disease was observed to occur
predominately in African Americans, while Tay-Sachs
disease occurred predominately in Ashkenazi Jews. These
early observations meshed with existing scientific views of
races as inherent biological divisions in humanity. This led
many researchers to conclude that genetic disorders like
sickle cell and Tay-Sachs diseases were unique to the groups
in which they were most common.

•many studies investigating the genetic basis of
diabetes are conducted in Native American and
Alaska Native tribes where the incidence of the
disease is high.
•there have found thousands of different mutations
in the BRCA1 and BRCA2 breast cancer genes,
Ashkenazi Jews have been found to almost
exclusively carry just three.

Evidence of genetic differentiation among races
• First, investigators studying the population genetics of indigenous groups
from around the world have constructed ancestral-tree diagrams showing
branching relationships among the various indigenous groups.
• Second, analysis of genetic clusters has been applied to persons of diverse
ancestry, with a focus on genotypes at multiple genetic loci.
• Third, studies have examined the distribution of differences among racial
groups in the frequency of alleles (genetic variants) at both microsatellite
and single-nucleotide–polymorphism (SNP) markers, demonstrating a
median difference in allele frequency of 15 to 20 percent, with 10 percent
of markers showing a difference of 40 percent or more.

Genetic differences in disease among racial and
ethnic groups
• To what degree does genetic variability account for medically important
differences in disease outcomes among racial and ethnic groups?
• The answer depends on the frequency of the genetic variants or alleles
(mutations) underlying the susceptibility to the disease.
• For example, factor V Leiden, a genetic variant that confers an increased risk
of venous thromboembolic disease, is present in about 5 percent of white
people. In contrast, this variant is rarely found in East Asians and Africans
(prevalence, ≤1 percent).Susceptibility to Crohn’s disease is associated with
three polymorphic genetic variants in the CARD15 gene in whites; none of
these genetic variants were found in Japanese patients with Crohn’s disease.

Racially admixed populations
• In particular, genetic admixture, or the presence in a population of persons
with multiple races or ethnic backgrounds, is well documented in the border
regions of continents and may represent genetic gradations (clines) — for
example, among East Africans (e.g., Ethiopians)18 and some central Asian
groups.
• For example, Williams et al. studied the association between the degree of
white admixture and the incidence of type 2 diabetes mellitus among Pima
Indians. They found that the self-reported degree of white admixture
(reported as a percentage) was strongly correlated with protection from
diabetes in this population.

Racial and ethnic differences as clues to interactions
Even when all racial and ethnic groups share a genetic variant that causes a
disease, studies of different groups may offer important insights. One of the best-known
examples of a gene that affects a complex disease is APOE. A patient
harbouring a variant of this gene, APOE €4, has a substantially increased risk of
Alzheimer’s disease. APOE €4 is relatively common and is seen in all racial and
ethnic groups, albeit at different frequencies, ranging from 9 percent in Japanese
populations to 14% in white populations to 19% in black American
populations.However, a recent meta analysis has demonstrated that the effect of
APOE €4 on the risk of Alzheimer’s disease varies according to race.29
Homozygosity for the e4 allele increases risk by a factor of 33 in Japanese
populations and by a factor of 15 in white populations, but only by a factorof 6 in
black American populations; similarly, heterozygosity for the €4 allele increases the
risk by a factor of 5.6 in Japanese populations, by a factor of 3.0 in white
populations, and by a factor of 1.1 in black American populations.

1.1
Alzheimer's Disease and APOE e4 gene
5.6
3
19%
14%
9%
20
15
10
5
0
Japanese Caucasian African
American
Relative Risk of
Heterozygote
Allele
Allele Frequency

Risks entailed by ignoring race in biomedical research
and clinical practice
We believe that ignoring race and ethnic background would be
detrimental to the very populations and persons that this approach
allegedly seeks to protect. Information about patients’ ethnic or
racial group is imperative for the identification, tracking, and
investigation of the reasons for racial and ethnic differences in the
prevalence and severity of disease and in responses to treatment.
This information is also crucial for identifying different risk-factor
profiles even when a disease does not occur with dramatically
different frequencies in different racial or ethnic groups.

Ethnic/Population Specific Allele?
Mutant allele is more
common among African
American Asthmatics
than Caucasian,
p<1X10-23
 Inter-racial gene
frequency differential
=36%
18%
54%
60%
50%
40%
30%
20%
10%
0%
Caucasians African
Americans

3000
2500
2000
1500
1000
500
0
African American
Asian
Caucasian
Latino American
1 group
2 groups
3 groups
4 groups
3,899 SNPs in 313 genes in 4 U.S. racial groups
# SNPs
Common to:
25% of SNPs are Pan Racial

3000
2500
2000
1500
1000
500
0
African American
Asian
21% of SNPs are racially specific
Caucasian
Latino American
1 group
2 groups
3 groups
4 groups
3,899 SNPs in 313 genes in 4 U.S. racial
groups
# SNPs
Common to:

Why Participate in Research?
•What if minorities do not participate in Genetic and
Clinical Research?
• There is great risk that disease genes in specific
populations will not be well understood in non-participating
populations
• Medical benefits to these populations will be less than for
well studied populations with higher participation rates

Risks of Racial Research
• History of Abuse & Misuse : WWII and Tuskegee
• Racial Profiling : Crime, Terrorism
• Biologic Blame : Intelligence and Racial Predisposition to Crime
• Poorly done studies of race can lead to incorrect conclusions:
• Strive to understand the full meaning of racial/ethnic differences
including: role of SES, cultural, environmental and dietary
differences

Conclusion
There are racial and ethnic differences in the causes, expression, and
prevalence of various diseases. The relative importance of bias, culture,
socioeconomic status, access to care, and environmental and genetic
influences on the development of disease is an empirical question that, in most
cases, remains unanswered. Although there are potential social costs
associated with linking race or ethnic background with genetics, we believe
that these potential costs are outweighed by the benefits in terms of diagnosis
and research. Ignoring racial and ethnic differences in medicine and biomedical
research will not make them disappear. Rather than ignoring these differences,
scientists should continue to use them as starting points for further research.
Only by focusing attention on these issues can we hope to understand better
the variations among racial and ethnic groups in the prevalence and severity of
diseases and in responses to treatment. Such understanding provides the
opportunity to develop strategies for the improvement of health outcomes for
everyone.

Reference
BOOKS READ:
 Darryl Macer ‘Bioethics’ Accesse -science@McGraw –Hill
 Bioethics- Tom L Beauchamp & Leroy Walter, 6th edition. Page no. 451-553.
WEBSITES VISITED:
Search on www.google.com
Search on www.youtube.com
• http://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/08_ethical.html
• http://www.accessscience.com/content.aspx?searchStr=human+genome+ethics&id=YB000141
• http://scienceray.com/biology/human-biology/the-incredible-human-genome-project-brilliant-stem-cell-research-the-marvelous-
promise-to-cure-degenerative-diseases-and-genetic-disorders/
• http://www.who.int/trade/distance_learning/gpgh/gpgh5/en/index2.html
• http://www.pecha-kucha.org/
• http://genomics.energy.gov/gallery/logos/thumbnails/601.jpg
• http://ghr.nlm.nih.gov/handbook/hgp/elsi
• http://www.actionbioscience.org/genomics/carroll_ciaffa.html

Reference contd..
http://www.genome.gov/elsi/
http://www.ndsu.edu/pubweb/~mcclean/plsc431/students99/ringdahl.htm
http://www.who.int/genomics/elsi/en/
http://publications.gc.ca/Collection-R/LoPBdP/BP/prb0008-e.htm
http://library.lanl.gov/cgi-bin/getfile?20-11.pdf
http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheet23
http://www.accessexcellence.org/RC/AB/IE/Ethical_Issues_of_the_HGP.php
http://www.abpischools.org.uk/page/modules/hgenome/hgp6.cfm?coSiteNavigation_allTopic=1

Acknowledgement
I, Sandipayan Dutta, would like to express my heartfelt gratitude towards our respected
principal Dr. A . Nagarathna and our Head of the Department Mrs. Asha.K.K .
I would like to give special thanks to Dr. Lakshmikanth R.N for assigning me the topic for
presentation.
My family and friends have always been by my side and it falls as my duty to mention them in
this event.
© Copyright. Sandipayan Dutta. 2014. All rights reserved.

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