Prescribing Our Future

Ethical Challenges in Genetic Counseling

Bonnie LeRoy, Diane M. Bartells

• Publisher: Routledge
• Year: 2020
• eBook ISBN: 9781351328586
• Topic: Medicine
• Subtopic: Ethics & Moral Philosophy

Genetic counselors translate the findings of scientific investigation into meaningful accounts that enable individuals and families to make decisions about their lives. This collection of original papers explores the history, values, and norms of that process, with some focus on the value of nondirectiveness in counseling practice. The contributors; examination of genetic counseling issues serves as a foundation from which to address other ethical, legal, and policy considerations in the expanding universe of clinical genetics.

PART III

Future Directions and Ethical Challenges in Genetic Counseling

Chapter 9

The Impact of the Human Genome Project for Genetic Counseling Services

HARRY T. ORR

As communicators of information from the medical and scientific communities to individuals at risk for genetic disorders, the role of genetic counselors is directly related to the amount of information available. Thus, programs designed to increase either the pool of information or number of individuals seeking information will expand the role of genetic counselors. The Human Genome Project, or Initiative as it is also designated, is one such program. In fact, the Human Genome Project is very likely the single most influential factor that will affect the demand society as a whole places on genetic counseling services. This increased demand will come from both the medical community and the general population.

The Human Genome Project is concerned with development of technologies for analysis of human DNA. It is also concerned that ethical issues, which arise from an ability to examine the entire human genome at the sequence level, be discussed at all stages of the genome project. Techniques will be developed that may make DNA analysis a routine matter, perhaps capable of being performed in a physician’s office. This will likely expand the sites in which genetic counselors will be involved in health care. Hopefully, consideration of the ethical and social issues during the Human Genome Project will help genetic counselors relay the increased breadth of genetic knowledge to individuals and groups so they can deal with the information from a more informed base.

The human genome describes the complete set of genetic information of the human being. The Human Genome Project will progress through three stages, each furthering the precision with which the genome is understood. The goal of the first stage of the genome project is the construction of a genetic map for each chromosome (chromosomes are the chemical packages of genes). Maps of these packages will identify the location of genes within the chromosomes. The genetic maps will be used during the second stage of the project to obtain physical maps of the chromosomes. The final stage involves the cloning of each chromosome. Thus, the last step of the Human Genome Project is the sequencing of some three billion base pairs of DNA, which encompass the entire human

With increasing success, molecular genetic tools have been applied to the localization and identification of genes affected by some inherited disorders. For conditions such as Duchenne muscular dystrophy, cystic fibrosis, neurofibromatosis, fragile X syndrome, and Huntington disease, this technology has increased the precision of information available to individuals from families with these disorders. When the biochemical or physiologic basis of a genetic disorder is unknown, as is presently the case for most human genetic disorders, a sequential, random search of all chromosomes is necessary to locate the affected gene. This search is conducted through linkage analysis. To localize a gene involved in a genetic disorder, normal variations within the human DNA, often called markers, are used. These markers are linked with or located closely to the disease gene on the chromosome. This means that the markers are usually passed on from generation to generation with the disease gene.

By following markers through families, it is possible to identify which individuals have inherited the disease gene. Until recently, the search for disease-linked DNA markers has been random. As discussed previously, the most immediate goal of the Human Genome Project is the construction of a map of the entire genome, which will provide DNA markers evenly spaced along all the chromosomes. This map will be a reference guide onto which a genetic disorder can be placed. Once a gene for a disorder can be located relatively close to DNA markers, carrier testing, prenatal diagnosis, and presymptomatic diagnosis are possible. However, these tests are never 100% certain because linkage analysis follows markers through a family but not directly to the gene.

Although linkage analysis has been helpful for many families, there are limitations. With linkage studies, blood samples are needed from multiple family members, testing is complicated and costly, and a few centers across the country are able to provide the laboratory expertise. This drastically limits access to services for the general population.

The genetic map from the Human Genome Project will provide the basis for the physical mapping and isolating disease genes themselves. Once isolated, a gene can then be characterized to determine the specific mutation(s) that cause the disease. This information makes the direct molecular diagnosis of genetic disease possible. At this point, the results from prenatal, carrier, and presymptomatic tests become absolutely certain.

Direct gene testing will increase availability of genetic testing services. Direct gene analysis requires blood only from the person wishing testing, it is relatively inexpensive, and for many testing procedures it can be adapted to routine laboratory techniques that will increase the number of labs that can provide services.

Once the Human Genome Project enters the third and final stage, the number of disease genes mapped and isolated will surely have increased enormously from the number known today. The third phase will further increase this number as novel genes are identified from analyses of sequence information. More importantly for the discussion here, it is the third and final stage that will likely have the most dramatic effect on the role genetic counselors will have in society.

Through the complete sequence analysis of the human genome novel genes will be discovered, a better understanding of human genetic organization and variation will be obtained, and how a genetic factor impacts human development and behavior will be assessed. Completion of the Human Genome Project could provide information on the role DNA sequences play in the susceptibility to common disorders such as heart disease or hypertension, susceptibility to environmental or workplace toxins, or physical traits such as weight or height. Thus, it is quite likely that many members of society—and not just of families affected with a genetic disorder—will seek genetic information concerning their specific health concerns. Fine (this volume) describes several possible new roles for genetic counselors that may evolve as a result of the information that will become available as the project progresses.

Chapter 10

The Evolution of Nondirectiveness in Genetic Counseling and Implications of the Human Genome Project

BETH A. FINE

To speculate about the future of genetic counseling and its continued adherence to the central tenet of nondirective counseling, a historical perspective of medical genetics and genetic counseling can provide a basis for exploration. In addition, the application of some counseling and ethical theories to the evolving process of genetic counseling must be considered. It has become apparent that the genetic counseling profession has grown concomitantly with the rapid advances in molecular genetics, carrier and prenatal screening techniques, and the increasing understanding of the human genome and its interaction with the environment. New developments in molecular biology and their clinical applications continue to shape the philosophy of genetic counseling and the delivery of genetic services. As the mapping of the human genome progresses, genetic counselors face numerous and complex ethical, social, legal, and educational issues that influence the discipline, the profession, and the daily practice of genetic counseling. An exploration of the impact of the Human Genome Project on genetic counseling as a discipline and a profession, as well as on the values and ethics we embrace, must begin by turning to the past for guidance and insights.

History

Genetic counseling has its roots in the eugenics movement of the early 1900s, which was influenced by the work of Francis Galton. Human genetics, on the other hand, evolved from the concurrent rediscovery of Mendel’s laws of inheritance. The discipline of clinical genetics arose from the merging of human genetics and genetic counseling in the medical setting. At the turn of the century, particularly in Europe, many poorly designed studies were utilized to corroborate the notion that social deviants, alcoholics, and the mentally retarded should not reproduce. How-ever, in 1910 the first American “heredity clinic,” the Eugenics Record Office, was established by Dr. Charles Davenport in Cold Spring Harbor, New York. This was the first time that scientifically sound genetic research was applied to human genetic diseases to inform individuals and families of genetic risks to themselves or to their offspring. The focus was on the family or individual, not on society at large. At that time, genetic conditions appeared to be rare so that genetics had very low priority in medical school curriculum.

By the 1930s, several factors precipitated the birth of genetic counseling clinics. First, “eugenics” became unpopular as the world witnessed the atrocities in Nazi Germany. Second, as the control of infectious diseases improved, the relative proportion of children with birth defects increased so that medical educators could no longer ignore the discipline of human genetics in their curricula. Third, research geneticists and physicians began to work together; the notion of preventive medicine in relation to genetic disease and birth defects was becoming accepted by the medical community.

Preventive medicine could be considered “eugenic” since the objective is to avoid the birth of babies with birth defects or genetic disease. However, the geneticists in the 1930s and 1940s were proponents of sound scientific research regarding specific diseases. They supported voluntary screening and sterilization. They also believed that, “prospective parents should have access to informed sympathetic counseling when deciding whether or not to have children” (Porter 1977).

Although the term “nondirective” was not yet applied to genetic counseling, the early genetic counselors clearly ascribed to this tenet. In 1947, Dr. Sheldon C. Reed, Director of the Dight Institute for Human Genetics at the University of Minnesota, coined the term “genetic counseling.” In his classic book, Counseling in Medical Genetics, he defined three requirements for genetic counselors: “some knowledge of human genetics … a deep respect for the sensitivities, attitudes and reactions of the client … and the desire to teach, and to teach the truth to the full extent that it is known” (Reed 1955). Dr. Reed described his experience with parents of affected children; they never wanted to have a subsequently affected child and often had a strong desire to produce a normal baby. Although he did not use the term “nondirective counseling,” the following paragraph indicates that he believed in this value:

they want to know what the chances are of another abnormality. We give them the figure if we have a reliable one; otherwise we tell them that we do not know the value. The parents often ask us directly whether they should have more children. This question is one that we do not answer because we cannot. The counselor has not experienced the emotional impact of their problem, nor is he intimately acquainted with their environment. We try to explain thoroughly what the genetic situation is, but the decision must be a personal one between the husband and wife, and theirs alone. (Reed 1955)

During the 1940s and 1950s, heredity clinics were established at many major university medical centers throughout the United States. In 1948, the American Society of Human Genetics was founded ...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Table of Contents
• List of Contributors
• Preface
• Introduction
• Acknowledgments
• I. Evolution of Genetic Counseling
• II. Social and Policy Issues in Genetic Counseling
• III. Future Directions and Ethical Challenges in Genetic Counseling
• IV. Appendix
• References
• Index