Issue Brief

April 2001

The Human Genome - Part II

"Rapidly emerging scientific research and technologies - such as human cloning - force us to examine the very essence of what it means to be human."  Sharon Terry in Congressional testimony March 28, 2001.

I.   Introduction 
As I noted in my last newsletter the recent success at mapping the human genome poses enormous challenges and opportunities.  From new chances to combat age-old diseases to radical proposals for cloning human beings, this arena is fraught with difficulty.  Lawmakers, theologians, scientists, and the average person are all challenged by these new developments and we will all have to participate in developing the public policies needed to deal with them.

II. What are the public policy implications
Because this work is so fast moving and has the potential to do so much good and harm, there is a real need to develop a set of rules and understandings about its use.  Perhaps the most controversial and most difficult questions are those surrounding proposals to clone human beings.  But there are also many other public policy considerations in dealing with this research.

To date there are three traditional areas of concern that may require new policy direction.  These are privacy, discrimination, and the use of human subjects in research.  These are not new issues but they need to be revisited with specific regard to genetic information.

A new set of policy concerns arises as developments proceed regarding genetic engineering and human cloning.  Most people have seen the recent news accounts of the Italian fertility doctor who is proposing to clone a human being within the next year.  That presents a frightening prospect for many and poses a real challenge to all policy makers.

A.  Human Cloning
In 1995 President Clinton established the National Bioethics Advisory Commission (NBAC) to make recommendations on bioethics issues and their policy implications.  The commissioners of the NBAC come from a variety of backgrounds including research scientists, religious scholars, physicians, lawyers, and members of the public.  They discovered that the potential ability to clone human beings through somatic cell nuclear transfer techniques raises a host of scientific, religious, legal, and ethical issues.  Even though they disagreed among themselves on many points, the commissioners unanimously concluded that given the current state of science, "any attempt to create a child using somatic cell nuclear transfer, whether in the public or private sector, is uncertain in its outcome, is unacceptably dangerous to the fetus, and therefore, morally unacceptable."

Furthermore, they made the following recommendations:

1. The 1997 moratorium on the use of federal funding "for any project involving the cloning of humans" should be continued.
2. Federal legislation should be enacted to prohibit any attempt to create a child by cloning.  This legislation should include a sunset clause to ensure that Congress reviews the issue after a specified time period. 
3. Legislative or regulatory actions should be written so as not to interfere with other important areas of research such as cloning human DNA and cell lines.
4. The US should cooperate with other nations and international organizations to enforce common aspects of their policies.
5. The federal government and others should encourage continuing deliberation of these issues.

This is just one set of recommendations that have been made on the subject of human cloning.  Although there are at least two groups of scientists who have publicly announced that they are going forward in efforts to clone a human being within the next two years, some believe this is already taking place secretly. 

Most scientists have expressed grave concerns about these efforts because, even if they don't object on ethical grounds, they feel the science is not nearly advanced enough to do this safely.  This is, however, a rapidly developing field of science and policy makers and the general public need to think about what policies they want in place to deal with it.  While we already have significant policies to deal with research on human subjects, human cloning adds a whole new dimension to these questions.

B.  Research on human subjects
Twenty-seven years ago, the National Research Act (Public Law 93-348) was signed into law.  It created the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research.  One of the charges of that Commission was to identify the basic ethical principles that should underlie the conduct of biomedical and behavioral research involving human subjects and to develop guidelines to assure this research is conducted in accordance with those principles.  The Commission was given certain directives to consider in developing these guidelines.  In 1979, the Secretary of the Department of Health, Education and Welfare published the Belmont Report which summarized the basic ethical principles identified by the Commission in its deliberations.   These principles are still valid today and in light of our new research climate seem more important than ever.

According to the Belmont report, "the expression 'basic ethical principles' refers to those general judgments that serve as a basic justification for the many particular ethical prescriptions and evaluations of human actions."  Under these terms the Commission listed three basic principles as particularly relevant to the ethics of research involving human subjects.  There principles were:  respect of persons, beneficence, and justice. 

They were explicated in the Belmont Report as follows:

1. Respect for persons. - This principle incorporates the convictions that: first, individuals should be treated as autonomous agents and, second, persons with diminished autonomy are entitled to protection.  Under this principle subjects must enter research voluntarily and with adequate information.  Persons who have diminished capacity need to be protected even to the point of being excluded from research in some cases.

2. Beneficence. - This principle requires that researchers not only must protect persons who are research subjects from harm but must also make efforts to secure their well-being.  The two general rules that have been formulated are (1) do no harm and (2) maximize possible benefits and minimize possible harms.

3. Justice. -  This principle asks the question, who should receive the benefits of research and who should bear its burdens?  Questions of justice have been associated with social practices such as taxation and political representation for centuries but it is only in the last few decades that they have been applied to scientific research.  The selection of research subjects needs to be scrutinized in order to determine whether some classes are simply being selected because of their easy availability, their compromised positions, or their manipulability, rather than for reasons directly related to the research.  When publicly supported research leads to new treatments, justice demands that these treatments be made available to all not just those who can afford them.  Further justice demands that the research should not unduly use subjects from groups unlikely to benefit from the results of that research.

Although these principles are not always easy to put into practice, the federal government has tried to see that they are applied in the research practices of federally funded investigators.  The National Institutes of Health (NIH) and the Food and Drug Administration (FDA) have tried to conform their regulations so that research done on human subjects is consistent and human subjects are adequately protected. 

One of the main tools used to protect human subjects is the Institutional Review Board (IRB).  These boards are charged with the responsibility to perform an initial review and continuing reviews of research involving human subjects.  The NIH set up its first IRBs in 1974 and the FDA followed by establishing IRBs for its research projects in 1981.  There are between 3000 and 5000 IRBs around the country and they have serious responsibilities.  Unfortunately, many of them are seriously overextended and in 1998 the Office of the Inspector General warned that the effectiveness of these boards was in jeopardy.  Since that report there has been a substantial increase in the enforcement of federal human-subject requirements.  Nevertheless, more needs to be done. 

Recent reviews by the NIH have discovered hundreds of adverse effects on volunteers in gene-transfer experiments that were not reported properly.  These events and the national attention given to the death of an 18-year-old in a gene-transfer trial at the University of Pennsylvania have prompted new efforts by both NIH and FDA to improve human-subject protections in federally sponsored research.

Even with the best of efforts mistakes are made and constant vigilance is required.

C.  Discrimination
While most people are optimistic about the use of genetic information to improve health, many worry that it may be misused.   These are legitimate concerns.  As noted by, Dr Francis Collins the Director of NHGRI, "...genetic information and genetic technology can be used in ways that are fundamentally unjust...Already, with but a handful of genetic tests in common use, people have lost their jobs, lost their health insurance, and lost their economic well-being because of the misuse of genetic information.  It is estimated that all of us carry dozens of glitches in our DNA—so establishing principles of fair use of this information is important for all or us." 

In the 1997 Health Insurance Portability and Accountability Act (HIPAA), the federal government addressed insurance discrimination in four ways.  The act: 

1.      forbids exclusion of an individual from group coverage because of genetic information,

2.      prohibits charging a higher premium to one person than to others in the group,     

3.      limits exclusions in group plans for preexisting conditions to 12 months, and

4.      states explicitly that genetic information in the absence of a current diagnosis of illness can not be considered a preexisting condition.

But, what HIPAA does not do is as important as what it does.  It does not:

1.      prohibit using genetic information for charging more for insurance,

2.       limit the collection of genetic information by insurers nor prohibit insurers from requiring an individual to take a genetic test,

3.      limit the disclosure of genetic information by insurers, or

4.      apply to individual health insurers except if covered by the portability
            provision.

Nine bills were introduced in the last Congress to address the holes in HIPAA but none received final action.

Through an executive order issued by former President Clinton on February 8, 2000, the federal government has prohibited all federal agencies from obtaining genetic information from employees or job applicants or from using genetic information in hiring and promotion decisions.  This is a critical attempt at ensuring fairness in the federal workplace.

The states have also expressed concerns about discrimination and most states have now enacted HIPAA-conforming legislation.  Further, 37 states have passed laws on genetic discrimination in health insurance and 24 states have enacted legislation on genetic discrimination in the workplace.

D.  Privacy
Last but not least, the concerns about privacy are real and difficult to solve.  As I noted in my newsletter last June, this has been a problem before Congress since 1997 when HIPAA required the Department of Health and Human Services (HHS) to propose regulations on privacy if Congress did not act in two years.  Congress failed to reach agreement on the matter and HHS proposed regulations in the fall of 1999.  The proposal generated a great deal of controversy.  There will always be trade-offs between privacy and efficiency in the health care arena.  There will also be trade-offs between privacy and research needs.  But, as medical information becomes more powerful and more damaging, it will become necessary for us as a nation to come to terms with this issue.  While some of the laws passed to prevent discrimination address a part of the privacy problem, they are by no means the final answer

III.  Conclusion
The public debate on the future of genetic research may well prove to be more important than discussions in the scientific community.  The challenge is to continue to explore the frontiers of science while not retreating from a commitment to human values and a basic sense of right and wrong.

If you would like more information about the topics in this newsletter you can review the testimony on cloning presented to the Oversight Subcommittee of the House Energy and Commerce Committee at www.house.gov/commerce or you may visit the Office of Human Research Protection in HHS at http://ohrp.osophs.dhhs.gov/