Practice-based Genetics Curriculum for Nurse Educators Sample Chapter


OBJECTIVE # 1:

Discuss the implications of the Human Genome Project (HGP).

Engage in a critical dialogue regarding the ethical, legal and social issues raised by the Human Genome Project


   

INSTRUCTIONS

1. BEGIN reading Case Study 1 (undergraduate) or Case Study 2 (graduate). (Handout 1.1-1, 1.1-2)

 

2. DISPLAY and discuss pedigree for Case Study 1 or Case Study 2. (Overhead/handout 1.1-3, 1.1-4)

 

NOTE: The inheritance shown is autosomal dominant for both familial hypercholesterolemia and Huntington's disease. If one parent has the gene there is a 50% chance, with each pregnancy, that the dominant gene will be passed on to the offspring. Other genetic conditions inherited in the same manner are neurofibromatosis, Marfan syndrome, and certain types of breast/ovarian and colon cancer.


3. IDENTIFY and discuss genetic and other risk factors using the Genetic Family History Screening Questionnaire. (Handout 1.1-5)

CONCEPT: THE HUMAN GENOME PROJECT (HGP)

The Department of Energy (DOE) first promoted the program as a way of extending its research on the biological effects of radiation. The DOE had studied mutation frequencies in survivors of the Hiroshima and Nagasaki atomic bombings in 1945 and was searching for more sensitive tests to detect mutations. The National Institutes of Health (NIH) seemed a more logical agency to lead the project, with its implications for medicine and human health.

After several years of consideration by committees and conferences of scientists and by the U.S. Congress, the Human Genome Project was officially established in 1990 as a joint 15-year program of NIH and DOE, with projected funding of $200 million per year.

The Project: Although the original goal of the HGP was to sequence the entire human genome, researchers soon realized that this would be a prohibitively expensive, time-consuming, and arduous task and set several intermediate goals.

The goals are as follows:

1. to construct a genetic and physical map of the human genome and sequence selected portions of the genome;

2. to map and sequence small genomes of model organisms such as bacteria, fruit flies, and mice as a way of developing and testing useful technologies to carry out the human aspects of the project;

3. to develop database and other software to assist the project, store data acquired, and make the data accessible to researchers and clinicians;

4. to train researchers to carry out the goals of the project;

5. to support the improvement and development of automated instruments and other technologies to assist in achieving the project goals; and

6. to study and design educational programs about the ethical, legal, and social issues raised by HGP. Scientists have made substantial progress in meeting these goals and are turning more attention to completing sequencing of the entire human genome.

Desired Outcomes: Information from the HGP will improve our understanding of the genetic contribution to human development, health, and disease. Knowledge of the specific genes that cause genetic conditions enables definitive diagnosis in affected individuals and in babies before they are born and may lead to understanding the underlying causes of the conditions and eventually to effective therapies and even cures.

Other: It is estimated that each individual carries 6-7 recessive genes with the potential to cause genetic conditions in our descendants. Furthermore, many of us may carry genes that predispose us to conditions such as mental illness, alcoholism, diabetes, and other health problems. As we learn more about the effects of our genetic heritage, there is a concern that the new genetic knowledge will be used to deny health, disability, and life insurance, job opportunities, and even the right to have children, to people with genetic predispositions to disease or who carry genes for specific conditions. It is estimated that more than a dozen genes are being mapped per week. Identification of a gene, however, does not mean that scientists immediately understand what the gene does and/or if it causes a disease; discovery of a treatment or cure may still be long in coming. It is to address these concerns in part that 5% of HGP funds are earmarked for study of the ethical, legal, and social issues (ELSI) raised by the project. Critics argue that this is insufficient, and that broader efforts are necessary to educate our citizens about the implications of HGP.

International Research: Efforts similar to the HGP in the U.S. are under way in many countries throughout the world including the United Kingdom, many countries in Europe, the Commonwealth of Independent States (formerly USSR), and Japan. The Human Genome Organization (HUGO), with membership from about 30 countries, fosters international collaboration and exchange of information regarding human genome research.

 

  

4. DISCUSS the Human Genome Project (Handout 1.1-6)

ALL STUDENTS: should be familiar with the Human Genome Project and be able to describe the overall goals to patients' families and communities.


NOTE: All DNA molecules in a single human being would circle the earth over 80,000 times if they were all laid end to end. The actual length of the DNA in each human cell is 3 meters.


NOTE: It is estimated that only 3% of the human genome actually codes for proteins. Another 30% consist of repeated sequences of unknown function. Sixty-seven percent (67%) consist of introns, DNA sequences within genes themselves which have no known functions.


NOTE: The Human Genome Project has set aside approximately 5% of its budget for the study of the ethical, legal, and social implications (ELSI) of the Project. The overall goal of the ELSI Program of the National Human Genome Research Institute is to identify and clarify the initial responses to emerging ethical, legal, and social issues raised by the Human Genome Project research. The ELSI program supports research projects, conferences, working groups, fellowships, and other initiatives that focus on such issues as privacy and confidentiality, nursing education and preparation, insurance and employment discrimination, quality control of genetic testing procedures, and public education. The development of this project was made possible through a grant from the Human Genome Project as a part of the ELSI program.


NOTE: Because of advances in gene sequencing technology, genetic mapping is proceeding ahead of schedule in mice, fruit flies, E. coli, and other organisms.


5. DISPLAY and discuss the goals of the HGP. (Overhead/handout 1.1-7)

NOTE: Researchers hope to develop sequencing methods that will cost no more than fifty-cents per base pair.


NOTE: Information from the HGP will improve our understanding of the genetic contribution to human development, health, and disease. Knowledge of specific genes that cause genetic conditions will hopefully contribute to the development of better diagnostic and treatment options for patients and families with genetic conditions.


CONCEPT: ETHICAL, LEGAL, AND SOCIAL ISSUES EMERGING FROM THE HGP

Ethical, legal, and social issues emerging from the HGP include patient and public concerns for:

  • health and life insurance discrimination
  • employment discrimination
  • informed consent
  • use of DNA samples for other research
  • confidentiality of DNA test results
  • misuse of genetic information such as eugenics and cloning
  • inadequate educational preparation of health care providers in genetics
  • lack of long-term studies on the impact of genetic information and testing on patients, families, and communities

Maintaining privacy of genetic health information is an important role for all health care providers. This is especially true with record keeping. In recording discussions with families and other genetic information there is the potential for jeopardizing patients' health insurance coverage the next time his/her carrier requests records. Some health care professionals keep sensitive genetic health related materials in a "shadow file." Working with advocacy groups, state legislatures, Congress, and insurance companies are other ways that nurses can participate in resolving these policy issues.

 

  

6. DISPLAY and discuss Emerging Ethical, Legal, and Social Issues Related to the Human Genome Project.(Overhead/handout 1.1-8, 1.1-9, 1.1-10)

 

ALL STUDENTS: should be aware of ethical, legal, and social issues such as confidentiality and privacy of genetic information that are arising as a result of advances in genetic technologies due to the HGP.

CONCEPT: EFFORTS TO REGULATE COLLECTION AND USE OF GENETIC INFORMATION

Since the mid-1990's there has been much state and some federal legislative activities to address two closely related issues: the maintenance of genetic privacy and the prevention of genetic discrimination. These laws have had to confront several challenging questions such as what constitutes a genetic test, is genetic information qualitatively different from other medical information, and is there a means to distinguish between the two.

Concerns over misuse of genetic information also pose major issues for the conduct of genomic research. Issues currently under discussion amongst geneticists, ethicists and lawmakers include:

  • ownership of DNA samples,
  • the scope of informed consent that must precede the decision to volunteer as a subject in genomic research,
  • the reuse of long archived samples,
  • the challenges to intellectual property rights that flow from research, and
  • the issues of community consent. (Reilly, 199)

Regulations on the use of medical information have lagged behind the rapidly proliferating purposes for the dissemination of such data. Although 40% of respondents to a 1998 survey believed that the privacy of their medical records was protected by Federal law, in fact, no comprehensive Federal legislation or regulation currently exists. Even at the State level, legal protections are spotty, especially for the disclosure and use of information by entities (e.g., insurers, managed care organizations, pharmacies), other than those providing direct care including secondary disclosures for such purposes as marketing.

Experts characterize the current situation as " a patchwork and a mess." There is currently no guarantee of privacy or confidentiality even in research records. Karen Rothenberg says "that is a real risk. We hope it's not a real harm." (Gould 1997)

Prohibiting Discrimination in Federal Employment Based on Genetic Information On February 8, 2000, President Clinton signed a presidential order prohibiting the discrimination of Federal employment based on genetic information. This was the first Executive Order of the 21st Century. Executive Orders allow for the President to enact rules and regulations regarding the Federal government. This order provides coverage only for individuals employed by the Federal Government. Exceptions to collecting or using genetic information would be allowed in cases in which workers give written consent as part of a health care program monitoring their medical condition. Another exception would be granted for gathering information to study in the work place.

  

7. DISCUSS the Ethical Issues in Genetics that Require Nursing Attention. (Overhead/handout 1.1-11)

GRADUATE STUDENTS: should become active participants in discussions of the ethical legal and social considerations and in influencing the provision of quality genetic health care.


NOTE: Other ethical issues that require nursing attention include:

  • use of genetic technologies to create "perfect humans"
  • human cloning to create additional organs for donation
  • use of gene therapy to treat genetic disorders
  • how genetic testing and treatment influence human growth and development, family, and community life
  • how best to educate health care professionals to deal with the pressing technological and ethical issues

NOTE: Nurses should be aware of key professional genetics and nursing societies that can serve as educational and professional resources, and increase nursing participation in dialogue regarding ethical, legal, and social issues associated with the HGP. These include:

  • International Society of Nurses in Genetics (ISONG)
  • American Society of Human Genetics
  • Alliance of Genetic Support Groups
  • National Society of Genetic Counselors
  • Oncology Nursing Society

NOTE: All nurses should become familiar with State and Federal regulations regarding privacy and use of genetic information so they can participate in public policy making and advocate effectively for patients families and communities.


8. CONTINUE reading Case Study 1 or Case Study 2.

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