pp. 51-56 in Bioethics for the People by the People, Darryl R. J. Macer, Ph.D., Eubios Ethics Institute 1994.

Copyright 1994, Eubios Ethics Institute. All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

Genetic information in the health care reform era

Paul R. Billings, M.D., Ph.D.
Associate Clinical Professor, Department of Medicine, Stanford University School of Medicine, Palo Alto, California 94304, USA

Human genetics and its companion discipline, medical genetics, is rapidly evolving in the United States. The number of scientists who identify themselves as geneticists, work on problems related to the field or use genetically based methods in research has grown enormously in the last 20 years. Similarly, professionals practicing medical genetics have increased from a small, largely unappreciated group of visionaries and pediatricians into several large societies including an American Medical Association accredited professional college. This growth has raised many important questions which illuminate the role of human genetics in American society, and provides an interesting model for other societies and cultures investing in genetic understanding.

In this essay, I will address four of the many questions which the "Genetic Revolution" is fostering. They include:
1. What is genetic information?
2. Why is there an explosion in the amount of personal genetic information available?
3. What is the status of the ethical, legal and social issues (ELSI) analysis of the field?
4. What ELSI topics are likely to become important in the near future?

My point of view arises from experiences as: a genetic scientist and medical geneticist; a recipient of a Human Genome Project (HGP) grant and member of federal panels reviewing this field; a scientific adviser to a company selling genetic tests and a Director of the Council for Responsible Genetics - a public interest group, independent of HGP and the biotechnology industry, which has for many years critically observed developments in human genetics.

What is genetic information?

In principle, any vector or molecule which can be transmitted from one cell or organism to another, and modifies traits of the recipient system, is genetic information. For practical purposes in humans, DNA and its chemical relatives subsume this role though hereditary information may be contained in the composition of other biochemical compounds. Unfortunately, though scientifically accurate, this description of genetic information is of little use in understanding the practical process of human genetic analysis or the practice of medical genetics for the purposes of public policy development or regulation.

Despite hyperbolic claims by genome scientists that the simple inert DNA sequence is a human "blueprint" and contains "all the information which makes us human" (reviewed in ref.1), human genetic information is more accurately defined as the composite product of several data sources and processes including: the elucidation of family history; the examination of genetically related phenotypic manifestations in family members; the results of biochemical, cytogenetic and DNA analytic testing; the genetic counseling of families and their responses to it; and the continuing care of those undergoing genetic examination to establish genotype/phenotype correlations. This broad multifaceted definition of genetic information rejects the vestiges of reductionism and determinism which still plague this field; it clarifies the object to be regulated when legislation directed at laboratory quality, data banks or privacy are considered. This definition specifically refutes the simple DNA definition of genetic information by emphasizing the human and contextual nature of this data.

Genetic information is often quantified as the hereditary (transmissible) component in the development or variation of a particular human trait (its risk of occurrence or heritability). This genetic statistic can be influenced by one or many causal or interacting genes which can have a small or large influence on the observed phenotype (trait). Variation in genes (mutations) can influence phenotypic development, though the vast majority of such alterations are associated with normal growth, structure and function. In fact, genetically based diseases are only recognized when their existence has been described clinically or gene products are used to define diagnostic or treatment groups. Thus, the relationship of genetic variation to disease or illness is always highly dependent on a variety of contextual factors including those which modify clinical signs and symptoms, and impact upon access to diagnostic or therapeutic services.

The view that DNA variation will never satisfactorily describe or predict clinical disease is important to keep in mind as the definition of genetic illness expands. Many of the human traits which seem to have a simple hereditary causation will not be correlated with specific genomic sequences nor should the genetic analysis of a common disease like breast cancer lead to its recasting as a "genetic illness". The factors which give a Caucasian female in the United States a lifetime risk of ten percent for developing breast cancer include a hereditary component. But, those women whose DNA does not harbour a cancer risk associated gene will still have a one in ten chance of suffering this illness over their lifetimes! Thus, the newer and broader definition of genetic information restricts the influence of the reductionist and determinist history of the gene, and takes into consideration personal, cultural, environmental and other influences on the hereditary component of human development and experience.

This concept of genetic information has been challenged by those seeking to rectify the unjust healthcare provision and financing system in the United States. Though the morality of providing healthcare to all may be motivating healthcare financing reform in this country, the relatively slow growth of GNP coupled with rapid increases in healthcare costs, experienced over the last twenty years in the United States, must also be fueling change. Escalating costs have stressed the employment based healthcare financing system and fostered a variety of processes which increase the number of uninsured and uncared for citizens.

Limiting the growth of healthcare costs by predicting and preventing disease is a key conceptual part of current reform plans. Genetic information is and will be used to define groups which might "benefit" from prevention. The marketing of novel and expensive genetically based treatments like cloned gene products, cell based somatic therapies or germline manipulations stimulate the formation of recipient groups (some having undergone genetic testing) for the largesse of preventive public health. The principles of technology assessment, individual variation in disease expression, and the poor ability to predict people's experience using genetic information, may be ignored in the well intentioned rush to reform and prevent. Genetically defined differences can be used to create groups which will be subject to discrimination or in a public health program which emphasizes respect, appreciation, care and support for personal and genetic diversity. The final result of reforms and their use of and impact on human genetics will not follow from scientific findings, but will be shaped by social, economic, cultural and political factors.

Finally, these comments about the genetic information suggest that it is unique and different from other personal medically related data. This view is not universally accepted and formed the basis of debate among the NIH/DOE Genetic Information and Insurance Task Force members (2). Genetic information has a novel history through its association with eugenic health movements, stigma and genocide which distinguish it from most other medical or personal data. In addition, it is uniquely relevant to the process of disease prevention through family planning and abortion (so-called choice or "homemade" eugenics). Its content extends past the individual from whom it is derived to implicate close relatives.

No other kind of data relevant to disease causation or prevention suggests that alteration of gametes may affect the risk of phenotypic expression or illness in a non-existent conceptus and the generations which may arise from it. Genetic information may be used to predict and prevent the mere notion of a trait in an anticipated future. Failures, mistakes and unforeseen consequences of this prediction and prevention are a special consequence of hereditary manipulations and genetic information.

Why is there an explosion of genetic information?

The fact that there is more genetic data available now than every before is indisputable. Until the 1960s, there were a small number of mapped human genetic sites and no cloned genes -- now there are thousands of both (see 3). The discovery of the biochemical structure of DNA and its replication has prompted the development of virtually all of the technology and methods which now drive the expansion in genetic information. In turn, investment in companies which use genetic approaches or produce gene related products has fostered business pressure to enlarge this field. Insight, persistent human suffering and the hope which technology and investment bring are stimulating calls for more and better quality genetic information.

This growth may also arise from the same forces which drove earlier eugenic movements. The wish for human improvement, to escape family curses, to deny aging and the inevitability of death, for growth of individual freedom and the full achievement of human potential remain seductive and motivating factors. The new emphasis of HGP on "public education" is reminiscent of programs contained within previous eugenic health movements. Presentations in public forums on the science and benefits of genetics were common in the past (4). What is different now is that new technology makes genotypic information more accurate and available, and allows at least some families who have access to healthcare the possibility of using this information for their benefit.

The HGP was created to coordinate the work of academic scientists and industry on genomic issues, and to produce information and technology. Its primary effect is likely to be to increase the amounts of genetic information available in this country. The program was funded at about the same time as the super collider atom smasher which has recently been cancelled by federal funders. The HGP has remained politically viable because of its associations with health, the allure of disease prevention and the strength of the biotechnology business sector.

In addition, the master political stroke of Dr. James Watson, who was the first HGP Director, was to create the ELSI program. This small component of HGP was designed to assess, and possibly mollify, the impacts of new human genetic information. This novel self-consciousness of a scientific project has been very useful in garnering continued appropriations for what is largely a banal industrial experiment to accurately sequence three billion bases of DNA in an era of shrinking federal budgets for scientific research.

What is the status of ELSI?

Shrewd as its conception may have been, questions have hounded the ELSI Program. Was it part of HGP or independent? Was it controlled by NIH or the DOE? Was it about implications or issues? Was it for scientists or the public at large? Was it to create research findings or public policy? Was it to be managed by its Advisory Board and charismatic leader (Dr. Nancy Wexler), its able institutional directors (Dr. Eric Juengst and Michael Yesley) or directed by the content of the submitted grants evaluated by traditional grant announcement/peer review processes? Though these questions remain unresolved, the ELSI Program has developed and represents a large funding source for the non-basic science study of human genetics.

The ELSI Program is comprised of research and educational activities. It has granted funds to individual and group projects investigating the impact of human genetic information and its applications. It has created a consortium of investigators studying the possible provision of nationwide cystic fibrosis screening. It currently is organizing a similar evaluation of genetic testing to stratify individuals at risk for colon and breast cancer; this screening may soon become available to the public. It has created a group considering privacy issues raised by genetic information and has funded several organizations analyzing the political, moral and religious implications of human genetics. Though many of these projects have yet to be completed, important information on topics like genetic discrimination has been presented and reports of commissioned activities are now being circulated.

The ELSI Program's educational activities have included numerous conferences and symposia. In addition, it has stimulated the development of curricula to be applied in secondary schools and colleges. Since, it is believed that the public will accept and use genetic information more wisely if properly educated, the new HGP Director, Dr. Francis Collins, seems ready to promote education as a key ELSI Program mission. Unfortunately, those doing this public education are usually geneticists and recipients of funding from HGP -- their bias certainly is likely to reflect optimism about the benefits to be derived from genetic information.

An ELSI funded report on genetic testing from the National Academy of Sciences and the Institute of Medicine has been published recently (5). Its summary indicates the important role that genetic discrimination in insurance matters plays on the acceptance and value of genetic testing. A more detailed analysis of this project's findings may reveal evidence of the controversies which characterized its inception (6).

Two other ELSI activities deserve mention. When the federal department charged with enforcing the recently passed landmark civil rights legislation (the Americans with Disabilities Act of 1990 [ADA]) formulated its policies, the ELSI Advisory Board acted to have genetic conditions and predispositions included. Citing no legislative precedent but also implying that the Advisory Board had little political clout, the petition was essentially dismissed. Though the Clinton Administration now appears likely to interpret the ADA broadly, this action will be instituted independent of the ELSI Program's input.

Recently, the report of the ELSI sponsored Genetic Information and Insurance Task Force was issued (2). This two year study provides a brief but comprehensive description of insurance practices and the use of genetic information in this business sector. It makes policy recommendations concerning healthcare financing and coverage reform. The panel concluded that universal access to a comprehensive quality healthcare plan is necessary for American society to derive benefits from the increasing amount of personal genetic information becoming available.

Unfortunately, the report has received little notice. This outcome would tend to support the view of Robert Gellman, legal counsel to an important United States House of Representatives committee, who noted that the ELSI Program will likely have little or no impact on its target audience, politicians and policy makers. The ELSI Program was not constituted to develop policy nor is it likely to succeed in speeding the implementation of needed reforms (7).

What will the ELSI Program consider in the near future?

Despite failures of the ELSI Program, it remains an important part of the political underpinning of HGP funding. Since it employs and supports highly qualified people, many problems which have arisen may be ameliorated in the coming years. As its research portfolio begins to report final findings, policy directions may emerge. Currently, it would be appropriate to end the separation of HGP basic science and ELSI Program funding; this integration would foster further analysis of the basic science aspects of HGP, limit unfeasible or impractical efforts and increase the money allocated to technology assessment type activities.

Many exciting new topics should be considered by the ELSI Program, irrespective of its position in HGP, in the coming months. These include:

1. Why results from a variety of projects indicate that the demand for genetic testing is limited even when it is accurate and affordable? Whether this is a result of genetic discrimination, arises from personal aversion, chronic illness or death, or is determined by other factors remains to be investigated. In fact, predictive technology is generally shunned by the American public.

2. What is the impact of risk stratification and its associated uncertainty in the diagnosis and management of common disorders such as heart disease and cancer?

3. Will rationing practices develop in healthcare, employment, education, adoption and other areas which utilize groups defined solely or in part by genetic information?

4. Will genotypic standards be used to limit access to jobs, licenses and other entitlements?

5. Will unprocessed or analyzed genetic information in large databases accumulate and be used without prior consent?

6. Will the limitations of genetic explanations of traits and illnesses become better understood along as the measured acceptance of genetic information by the public is assessed?

7. What will be the impact of new reproductive methods on views of genetic information held by the public?

In conclusion, though healthcare reform may lessen genetic discrimination by eliminating the exclusion from care of people who have genotypic or phenotypic "pre-existing" conditions, genetic information may continue to be used to limit services and entitlements. The continuing analysis of genetic discrimination and other topics fostered by the genetic revolution and HGP is necessary. Though modification, revision and supplementation of ELSI Program activities may be warranted after its first few years of existence, its current influence represents a positive force for rationality and moderation as genetic technology and data is more frequently applied to the real world of people in need.


1. Hubbard H and Wald E. Exploding the Gene Myth. Beacon Press 1993.
2. NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research. Genetic Information and Health Insurance Report of the Task Force on Genetic Information and Insurance. National Institutes of Health; Department of Health and Human Services 1993.
3. Billings P. The Scientific Basis of the "Genetic Revolution": A Selective Review. In: The Genome, Ethics and the Law: Issues in Genetic Testing, A.A.A.S. Pubs. 1992:23-45.
4. Kevles D. In the Name of Eugenics. University of California Press 1985.
5. NAS/IOM Report on Genetic Testing in the United States. National Academy of Science Press 1994 [in press].
6. Billings P, Lippman A and Wilker N. Conflicts, Ethics and the Genome. Am J Hum Genet 1992; 51(5): 1168-9 (letter).
7. Gelman R. In: House of Representatives Report 102-000. Designing Genetic Information Policy: The Need for an Independent Policy Review of the Ethical, Legal, and Social Implications of the Human Genome Project . US Government Printing Office 1992.

This paper was supported in part by a grant from the Department of Energy #DE-FG02-92ER61395

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