The document summarizes information about the Human Genome Project (HGP). It discusses that the HGP aimed to map all human genes to further understand human development. The first draft of the human genome was published in 2001 and revealed there were around 20,500 genes, fewer than previous estimates. The full genome sequence was completed in 2003. The document also discusses the establishment of the Ethical, Legal and Social Implications program to examine how genetic information would be used and ensure protection of individuals. Key areas examined include privacy of genetic data, integration of genetic technologies in healthcare, issues in genetic research, and education needs regarding genetics.

1. HUMAN GENOME PROJECT
DR. M. SONIA ANGELINE
KJC

2. INTRODUCTION
 The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete
mapping and understanding of all the genes of human beings.
 All our genes together are known as our "genome."
 The HGP has revealed that there are probably about 20,500 human genes.
 This ultimate product of the HGP has given the world a resource of detailed information about the structure,
organization and function of the complete set of human genes.
 This information can be thought of as the basic set of inheritable "instructions" for the development and function of a
human being.
 The International Human Genome Sequencing Consortium published the first draft of the human genome in the
journal Nature in February 2001 with the sequence of the entire genome's three billion base pairs some 90 percent
complete.
 More than 2,800 researchers who took part in the consortium shared authorship.
 A startling finding of this first draft was that the number of human genes appeared to be significantly fewer than
previous estimates, which ranged from 50,000 genes to as many as 140,000.
 The full sequence was completed and published in April 2003.

3. HGP
 The HGP is a worldwide research effort with the goal of analyzing the structure of
human DNA, by determining the location of the estimated 100,000 genes in the
human genome and identifying the sequence of its 3,000,000,000 base pairs.
 The information generated by the HGP will be a major resource for all the areas of
basic and applied biomedical and behavioral research in the 21st century.
 The products of the HGP will benefit science, medicine and health by improving
knowledge of human growth and development and the unlimited nature of human
variability.
 It will enhance the understanding of both health and diseases in which genes have a
role and lead to the development of treatments for many of the thousands of
disorders that now affect humankind.

4. HGP
 The U.S. HGP is led by two federal agencies, the National Institutes of Health (NIH),
through NHGRI, the Department of Energy (DEO) through its Office of Health and
Environmental Research (OHER).
 The four major goals of the HGP include:
 mapping and sequencing the human genome;
 mapping and sequencing the DNA of model organisms;
 computerized data collection, storage and handling of this information;
 examining and addressing the related ethical, legal and social implications.

5. ETHICAL IMPLICATIONS OF HUMAN GENOME
PROJECT
 When the Human Genome Project (HGP) was being established, concerns were raised
about how the new genetic information would be used and how individuals and
society could be protected from possible harm.
 The Ethical, Legal, and Social Implications of Human Genetics Research (ELSI)
program was developed to examine these issues and assist in the development of
policy recommendations and guidelines to ensure that genetic information is used
appropriately.

6.  To accomplish this, the ELSI program was charged with
1) developing a program to help understand the implications of the Human Genome Project (HGP)
2) identifying and defining the major issues of concern and developing initial policy options to address
them.
3) The ELSI program at the National Centre for Human Genome Research (NHGRI) has not only met
these goals, but has moved beyond them to set the agenda for future work in this area.
4) A robust research and education program has been established to examine the ethical, legal and social
implications of genome research and a number of workshops and policy fora have been held to identify
the most urgent ELSI issues and develop appropriate policy recommendations.
ETHICAL IMPLICATIONS OF HUMAN GENOME
PROJECT

7. ELSI PROGRAM
As the ELSI program has evolved, four high priority areas have emerged:
 Privacy and fairness in the use and interpretation of genetic information.
 Clinical integration of new genetic technologies.
 Issues surrounding genetics research.
 Public and professional education.

8. PRIVACY AND FAIRNESS IN THE USE AND
INTERPRETATION OF GENETIC INFORMATION
 Genetic information is being discovered at an increasingly remarkable pace.
 In some cases, however, not enough is known about the meaning of genetic information
or how it is being interpreted and used.
 The risk of genetic discrimination grows as new disease susceptibility genes are
identified.
 Genetic research results are attracting a great deal of attention, yet often, information
that is presented about discoveries is confusing, misleading, or factually incorrect.
 As more genetic factors are identified as causes for and predictors of human diseases, a
new framework for defining the meaning of health, disease and predisposition to disease
may need to be developed.

9. CLINICAL INTEGRATION OF NEW GENETIC
TECHNOLOGIES
 As a result of the HGP, genetic technologies have developed at a rapid rate.
 Disease genes are being located and their functions are beginning to be understood at an increasingly
extraordinary pace.
 Researchers are finding genes that cause diseases, identify people at increased risk for having children
with a genetic disorder, and help distinguish those individuals who are at increased risk to develop a
certain disease from those who are not.
 As new genetic technologies are moving rapidly from research into the clinical practice arena, concerns
have been raised that, in some cases, not enough is known about the impact of these findings on people's
lives and health.
 Furthermore, questions have arisen as to whether health professionals have been adequately educated
about genetics, genetic technologies and the ethical, legal and social implications surrounding their use
in order to optimally provide genetic services to their patients.

10. ISSUES SURROUNDING GENETICS RESEARCH
 Genetics research may result in the discovery of information that is powerful and potentially predictive.
 In addition, such information may have familial implications.
 While in some cases such information may be beneficial to research subjects and their families, there is
also potential for misinterpretation or misuse.
 Special concerns have arisen about the process of informed consent, particularly when the risks and
benefits of research participation may not be fully known.
 Concerns have also arisen about how best to prevent the preliminary or premature release of research
results and to protect the privacy of individuals who choose to participate in genetics research.
 As a result, a third priority area identified for the ELSI program pertains to issues surrounding the
conduct of genetics research.
 Examination of existing research guidelines and recommendations over the past five years has revealed
that current guidance and protections need to be enhanced in order to deal with the special
considerations related to genetics research.

11. PUBLIC AND PROFESSIONAL EDUCATION
 It has become increasingly clear that most members of the general population and most health professionals are not
knowledgeable about genetics, genetic technologies and the possible ethical, legal, and social implications of having
genetic information.
 This has become more apparent as the results of a number of ELSI-funded surveys have become available.
 The new information generated by the HGP and human genetics research are changing biomedical research, the
practice of medicine, and public perceptions about genetic information and technologies.
 It is imperative that members of the public have an adequate understanding of the meaning of newly discovered
genetic information.
 It is also essential that our nation's health professionals have the knowledge, skills, and resources to effectively
integrate this new knowledge and these technologies into the diagnosis, prevention, and treatment of disease.
 Without knowledgeable health professionals and members of the public, the advances in genetics research will not be
fully realized.
 Thus, a fourth high priority area that has been identified for the ELSI program is public and professional education in
genetics.

12. HUMAN GENOME: LEGALAND ETHICAL
IMPLICATIONS
 An important goal of the HGP is to offer new perspectives in the field of medical science.
 In particular, it is providing the tools for discovering genetic alterations that make certain families and
individuals more likely than others to get disease of a genetic nature.
 This raises great expectations to prevent and/or treat of such disease.
 However, it is to be noted that the improvement of medical science is not the only sector of human
society which may be affected by genetics.
 This technology has been useful in the field of law, especially criminal proceedings or paternity cases
to determine identities based on genetic tests.
 Additionally, the impact of biogenetics on social life may be even much more invasive.

13.  For example, genetic tests are used for selecting persons for employment, searching features which are fit for the
employment, it may alter working relations.
 The genetic heritage of particular families, which makes their members more likely than average vulnerable to
certain diseases, may also alter their status in accessing any welfare mechanisms, or private insurance.
 It has also been reported that adoption agencies have refused to adoption by persons based on their genetic profile.
 The implementation of medical activities raises many ethical and legal controversies, such as those related to the
nature of the informed consent that should be guaranteed to those who have a genetic test.
 Also, the issued related to privacy and confidentiality of genetic information of person(s) and may further lead to
psychological impact and social stigmatization on an individual due to his/her genetic differences.
 People would be discriminated against because of differences in their DNA that increase chances of getting a
certain disease.
HUMAN GENOME: LEGALAND ETHICAL
IMPLICATIONS

14. INTERNATIONAL LAW AND THE HUMAN
GENOME
 International legal action for regulating bioethics has mainly taken place, at the universal level, in the
framework of UNESCO, through the adoption of two declarations:
 Universal Declaration on the Human Genome and Human Rights, 1997 (UDHGHR) and
 International Declaration on Human Genetic Data, 2003 (IDHGD).
 In addition, a new comprehensive Declaration on bioethics, i.e., Universal Declaration on Bioethics and
Human Rights (UDBHR), with the purpose of promoting respect for human dignity and protect human rights,
by ensuring respect for the life of human beings, and fundamental freedoms, consistent with international
human rights law’ is available.
 The commencement of the UDHGHR just reflects the concerns that research on the human genome ‘should
fully respect human dignity, freedom and human rights, as well as the prohibition of all forms of
discrimination based on genetic characteristics’.
 The main purpose of the Declaration is to set out a series of basic ethical principles of universal character to
guide both states (especially their legislative action) and the practitioners.

15. THANK YOU