IVD Technology
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IVDT Article Index
Originally published September, 1997
Commentary
Genetic testing and social consequences: The case for science with humanity
David F. Betsch
In a recent interview, Arun Gandhi, grandson of the archetypal pacifist and founder of modern India, Mahatma Gandhi, identified "science without humanity" as one of the eight basic causes of violence. Unfortunately, in the minds of technically trained personnel, the connections among scientific research, clinical practice, and patients are usually distant and diffuse.
This fact is frequently reflected in the professional training available to industry personnel. Out of the 138 sessions at June's BIO '97 International Biotechnology Meeting and Exposition, for instance, just one directly addressed the social and ethical impacts of biotechnology development; five others related to the topic only peripherally. To secure ethical practice in the in vitro diagnostics industry--and thereby the opening and development of new IVD markets and continued public support for genetic research--it is crucial that all professionals along the pipeline, from the laboratory to the marketing department, be sensitive to the human impact of discoveries and technological advancements in this field.
It is by no means inevitable that professional training should perpetuate a separation between science and humanity. An example to the contrary is provided by two concurrent conferences that I recently attended at the University of Malta (Msida, Malta). At the first conference--the Sixth International Conference on Thalassaemia and the Haemoglobinopathies--speakers concentrated primarily on the clinical and scientific aspects of thalassemia research, particularly on advances in genetics and prenatal diagnostics. Meanwhile, the second conference--the Eighth Annual Thalassaemia Parent and Thalassaemics International Conference--offered a forum for patients, their families, and their caregiving support groups. Throughout these concurrent meetings, the diverse audience of researchers, clinicians, and those afflicted with or affected by this serious inherited disorder wandered the same hallways, shared coffee breaks, and occasionally attended joint sessions.
Thalassemia is characterized by the reduced ability of the blood to transport oxygen; the condition results from variant hemoglobin subunits that do not assemble properly. Treatment of the disorder involves blood transfusions every 26 weeks and iron chelation therapy with desferrioxamine. When they have access to the current medical practices in economically developed societies, patients can expect normal growth, development, and lifespan. In fact, several speakers at the patient and parent conference claimed that, when proper medical care is available, thalassemics can experience a higher quality of life, self-esteem, and emotional well-being than otherwise healthy individuals, perhaps owing to the family and social support systems developed to care for those afflicted with the disorder.
For more than a decade, clinics throughout the Mediterranean region, Asia, Western Europe, and the United States have offered carrier screening, prenatal diagnosis, and, more recently, preimplantation diagnosis of in vitro fertilized embryos to detect thalassemic mutations in hemoglobin genes. Because advances in prenatal diagnostic technology have preceded advances in treatments for this disorder (true of most genetic tests), in some countries the information derived from such tests has been used to justify the use of abortion to prevent the birth of unhealthy babies. In Sardinia, for example, births of thalassemic infants dropped from 120 in 1975 to 0 in 1995 because of the availability of and strong public advocacy for prenatal testing and pregnancy termination.
But countries that choose this course of action face a delicate ethical dilemma. To prevent the suffering of an affected individual and family, they must be prepared to recommend the abortion of a fetus that would perhaps lead a happier-than-normal life if born. At the patient and parent conference, several thalassemia patients from the Mediterranean region openly stated that they were delighted with their lives. Nevertheless, because it is commonly the governments of Mediterranean nations that must bear the burden of the expensive medical treatment required for thalassemics, and because most of the societies involved are not wealthy, it is unlikely that their health authorities would willingly allow thalassemics to be born. In cases such as this, genetic testing not only provides health information, but also introduces economic considerations that can be used to reduce health-care costs by limiting the distribution of care.
Throughout the world, the development of molecular diagnostics is happening at a frenetic pace, usually in advance of effective treatments. Under these circumstances, the moral question is whether the development and marketing of genetic tests will improve patients' health and satisfy their right to personal information, or segregate patients into market niches, apportioning scarce health-care resources on the basis of DNA sequences.
In the United States, the potentially abusive impact of genetic test data is very much on the minds of public policy makers. Signed into law in August 1996, the Health Care Portability and Accountability Act contains some modest restrictions on the use of genetic test data by health insurers. The Equal Employment Opportunity Commission has issued guidelines prohibiting employment discrimination on the basis of genetic tests. President Clinton voiced support for genetic privacy--the restriction of genetic test results to patients and their physicians unless authorized in writing by the individual--in his commencement address at Morgan State University in May. About a dozen bills having to do with the privacy of genetic test results are pending before Congress, including Senate bills called the Genetic Fairness Act (Feinstein, DCA), the Genetic Privacy and Nondiscrimination Act (Hatfield, ROR), and the Genetics Confidentiality and Nondiscrimination Act (Domenici, RNM). These bills have in common a strong inclination to protect individuals against unauthorized access to their genetic test results or the use of such results to discriminate in the areas of insurance, employment, or education.
Generally speaking, however, the formation of policies to regulate the availability of genetic test results and safeguard the public interest has proven much more difficult than the technical design of genetic tests themselves. Since 1989, scientists funded by the human genome project have successfully sequenced the entire genomes of several model viruses and microorganisms, and uncovered several thousand human genes. Meanwhile, the program's Working Group on Ethical, Legal, and Social Implications of Human Genome Research--a subcommittee of the National Institutes of HealthDepartment of Energy Task Force on Genetic Testing--has managed to generate only a single document, a set of policy recommendations released earlier this year.
Public policy will be strongly influenced by the recommendations of this prestigious working group, a collection of scientists, ethicists, sociologists, and medical and legal professionals who unanimously support the right of patients to control access to their own genetic test information. Perhaps most significant is the task force's recommendation to establish a new government agency, the Genetics Advisory Committee, that would report to the secretary of Health and Human Services and have authority to oversee genetic testing and regulate the availability of test data. Within this agency, one subcommittee would advise FDA on ensuring the validity and utility of new genetic tests and another would advise the Clinical Laboratory Improvement Advisory Committee (CLIAC) on ensuring the quality of laboratories performing and interpreting the tests.
This last point is critical for the future of genetic IVDs. A study recently published in the New England Journal of Medicine showed that approximately one-third of genetic test results were misinterpreted by doctors or genetic counsellors.1 There is a tremendous need for education and training of health-care providers before genetic tests become widespread and, until that time, genetic testing should be closely regulated. Although I agree with those who support the public's right to obtain medical information, the average patient will not understand the implications of genetic test results. The establishment of professional education, training programs, and regulatory safeguards is necessary to ensure that the public receives genetic test information that is both correct and well understood.
The experience of Myriad Genetics, Inc. (Salt Lake City), in marketing BRCA analysis kits for breast cancer illustrates that there are clear economic incentives for mindfulness of public sentiment in sensitive areas like genetic testing. Although the product may perform well technically, investors' concern about the public understanding and acceptance of the product, as well as the extremely murky regulatory climate surrounding genetic testing, probably caused the withdrawal of Myriad's $43-million stock offering last November.2
There are similarly strong and clear economic incentives for IVD manufacturers to support federal legislation and regulations, since the existance of such legislation and regulations reassures the public of the safety and utility of these products. But IVD makers should get involved now while laws and policies are in formulation. A good starting point for manufacturers of IVDs that perform genetic testing is to obtain a copy of the recommendations of the Task Force on Genetic Testing.3
The ability to determine DNA sequences from the moment of conception has given medical professionals the tools to define "perfection" in human offspring. The public generally does not understand genetics and is largely afraid, with good reason, of the eugenic implications of the widespread availability of genetic test results. It is in the best interests of IVD manufacturers, and of their customers, to practice science with humanity.
References
1. Giardello FM, "The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis," N Engl J Med, 336(12): 823827, 1997.
2. Marshall E, "Gene Tests Get Tested," Sci, 275:782, 1997.
3. "Proposed Recommendations of the Task Force on Genetic Testing," Federal Register, 62 FR: 45394547.
For further information
Biotechnology Industry Organization (BIO)
1625 K St. N.W., Ste. 1100
Washington, DC 20006
Phone: 202/857-0244
Web site: http://www.bio.org/bio/bioinfo.html
National Human Genome Research Institute
National Institutes of Health
Bldg. 31, Rm. 4B09
9000 Rockville Pike
Bethesda, MD 20892
Phone: 301/496-0844
Web site: http://www.nhgri.nih.gov
National Center for Genome Research
1800 Old Pecos Trail
Santa Fe, NM 87505
Phone: 505/982-7840
Web site: http://www.ncgr.org
National Human Genome Research Institute
National Institutes of Health
Bldg. 31, Rm. 4B09
9000 Rockville Pike
Bethesda, MD 20892
Phone: 301/496-0844
Web site: http://www.nhgri.nih.gov
David F. Betsch, PhD, is an assistant professor of science and technology at Bryant College (Smithfield, RI), and a member of the IVD Technology editorial advisory board. He is also president of Biotechnology Training Programs, Inc. (Providence, RI).
