895
Letters to the Editor Drs. Trigg and Geier (1992) state that the greatest honor and prestige that can be bestowed upon academicians is that their work be accepted and transferred to private laboratories "assuring that their research benefits mankind!" Really! How unworldly a view! In addition, these authors did not read my letter carefully and have missed (as did the Hechts) my quintessential message. I am not against private medicine or the transfer of technology. Care of the patient/family with or concerned about a genetic disorder is best achieved through comprehensive services by appropriately certified geneticists who see the patient and family. An academic versus a private setting is not the problem. Mega-commercial labs are the source of the current problems, for the following reasons: 1. They simply obtain samples directly from offices of private physicians, providing results that these physicians are incapable of interpreting. Worse still, these physicians are frequently unaware of their own limitations or of the extent of knowledge on the subject matter. 2. They do not see the patient or family, abandoning these individuals in total anguish and leaving the academic centers to pick up the bits and pieces. 3. In their rush to market new techniques, they ignore required adherence to licensing regulations, peer review, FDA approval, and ethical standards. 4. They often use genetic counselors with masters degrees to practice medicine - a highly inappropriate activity, whether it is done by telephone or in person in the offices of private physicians oblivious of their shared liabilities. Dr. Warren, probably the veteran of commercial genetics labs, finally, despite a host of misinterpretations in the first half of his letter, achieved laudable clarity in emphasizing that cytogenetics and biochemical and molecular genetics "are highly specialized esoteric laboratory tests requiring a team [emphasis added], including qualified counselors and physicians." Could anyone reasonably disagree? Current mega-commercial laboratory practices are inimical to the survival of academic-based genetic laboratories. Until such time as these ventures operate in ways that do not threaten academic laboratories, an interacademic laboratory referral directory will be helpful, and those who still plan to participate should do so immediately. Meanwhile, practicing physicians should be educated about the importance of compre-
hensive genetic care for their patients, whether it be in the academic or the "private" setting. AUBREY MILUNSKY Center for Human Genetics Boston University School of Medicine Boston References Hecht F, Hecht BK (1992) Descent into demonology and protectionism. Am J Hum Genet 51:893-894 Trigg ME, Geier MR (1992) On the relationship between academic and private genetic services. Am J Hum Genet 51:890-891 Warren RJ (1992) Survival of academic-based genetic laboratory services. Am J Hum Genet 51:892-893 © 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0027$02.00
Am. J. Hum. Genet. 51:895-897, 1992
Genetic Discrimination and the Americans with Disabilities Act To the Editor:
In their invited editorial, Holtzman and Rothstein (1992) maintain that our paper "Genetic Discrimination and the Law" (Natowicz et al. 1992) gives a "misleading impression of the protection provided by the ADA" (Americans with Disabilities Act) (p. 458). They go on to say that "according to the Equal Employment Opportunity Commission (EEOC), the agency charged with enforcing the ADA, an individual is not covered under the law until he or she is symptomatic (Blumenthal 1991). Consequently, presymptomatic individuals with late-onset disorders, such as HD and adult polycystic kidney disease, are not covered. Carriers of recessive disorders, such as cystic fibrosis, and carriers of X-linked disorders, such as DMD, are not covered and could be denied employment" (p. 458). We believe that Holtzman and Rothstein have misread Blumenthal's letter. Blumenthal's letter is a response to questions posed by Representative Bob Wise
Letters to the Editor
896
concerning the applicability of the ADA to genetic discrimination. In her answer to the first question inquiring whether the ADA protects individuals from discrimination based on genetic characteristics, Blumenthal does state that "Congress intended that the ADA only protect from discrimination individuals who have, have a record of, or who are regarded as having, existing physical or mental impairments" (p. 1 of attachment). She goes on to say that presently asymptomatic individuals who have a family history of conditions such as heart disease and cancer would not be protected by the ADA. We believe that Blumenthal has chosen these diseases as examples because, although these diseases are familial, they are causally heterogeneous and most frequently have a multifactorial mode of determination. She did not choose familial diseases whose etiology can be explained by a simple genetic causal mechanism, e.g., Huntington disease (see below). This distinction between multifactorially determined familial diseases and those with a straightforward genetic causal mechanism is suggested in the last paragraph of Blumenthal's answer to this question. She states that "many complex issues regarding the rapidly developing and expanding field of genetic testing for specific genetic diseases, and the use ofinformation obtained as a result of genetic testing remain. Because these issues are unique and outside the Commission's expertise, they should be resolved by means of legislation, not by agency regulation" (emphasis added) (p. 1 of attachment). Thus, contrary to Holtzman and Rothstein's statement in their editorial, Blumenthal's letter does not preclude the possibility that the ADA will provide protection to individuals who have a genetic diagnosis or condition but who are presently asymptomatic. Moreover, in response to questions 2-4 posed by Representative Wise, concerning an individual with a late-onset genetic disorder (e.g., Huntington disease) who is currently asymptomatic or is an asymptomatic heterozygous carrier of a recessive disorder (e.g., cystic fibrosis) or an X-linked disorder (e.g., hemophilia), Blumenthal offers the following response: "The Commission is unable to answer questions 2 through 4 at this time.... Questions 2 through 4 raise issues that cannot be decided in a vacuum but should be analyzed with the ADA's overall regulatory and subregulatory framework. For this reason, the Commission is not currently in a position to answer detailed questions concerning the applicability of the ADA's employment provisions to genetic discrimination beyond what was
said in the interpretive guidance that is discussed in response to question one" (p. 2 of attachment). This answer directly contradicts Holtzman and Rothstein's summary of Blumenthal's position quoted above. Question 6 asks whether the ADA "authorizers] the EEOC to expressly outlaw employment discrimination based on genetic characteristics" (p. 3 of attachment). Blumenthal replies that "for the reasons stated in the answer to question one, it appears that the Commission does not have authority to outlaw discrimination in employment based on 'genetic characteristics."' As is the case for the answer to question one, this answer should not be interpreted to mean that no form of genetic discrimination is outlawed by the ADA. We have discussed, in both our original paper and in the present discussion of Blumenthal's answer to Wise's first question, the differences between those forms of genetic discrimination that we believe to be prohibited by the ADA and those which are probably not prohibited. We hope that this somewhat detailed discussion of Blumenthal's letter makes it clear that, contrary to Holtzman and Rothstein's editorial, the EEOC has not ruled out the possibility that individuals suffering genetic discrimination will be protected by the ADA. It should also be pointed out that the regulations and comments produced by regulatory agencies such as the EEOC cannot lawfully change the substance of the laws they interpret (Natowicz et al. 1992). It will be the courts, rather than the EEOC, that will ultimately decide whether the provisions of the ADA apply to
genetic discrimination. In conclusion, we would like to make one further point. As we argued in our paper, we believe that the ADA provides significant protection for individuals suffering from genetic discrimination in the field of employment. However, even if there remains doubt about whether the ADA does indeed cover genetic discrimination, victims of genetic discrimination should not be discouraged prematurely from bringing lawsuits in reliance on the ADA. It is true, as we stated in our paper, that currently enacted legislation provides only limited protection against genetic discrimination, especially in the area of insurance underwriting. Nevertheless, it is only by prosecuting existing legislation, to the fullest extent possible, that the rights of all people with disabilities, including those people with real or perceived genetic disabilities, will be enforced and
extended.
897
Letters to the Editor MARVIN R. NATOWICZ,* JANE K. ALPERt, AND JOSEPH S. ALPER$ *Division of Medical Genetics, The Shriver Center for Mental Retardation, Waltham, MA; and Departments of Pathology, Harvard Medical School and Massachusetts General Hospital; TDisability Law Center; and $Department of Chemistry, University of Massachusetts-Boston, Boston Acknowledgment
their genetic-services providers should be aware that the state of the law is not clear. NEIL A. HOLTZMAN* AND MARK A. ROTHSTEINT *Department of Pediatrics and Department of Health Policy and Management, Johns Hopkins Medical Institutions, Baltimore; and f University of Houston Law Center, Health Law and Policy Institute, Houston © 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0029$02.00
We thank Dr. Neil Holtzman for providing us with a copy of Ronnie Blumenthal's letter to Representative Bob Wise. Am. J. Hum. Genet. 51:897-898, 1992
References Blumenthal R (1991) Letter and accompanying attachments from the Acting Director of Communications and Legislative Affairs, EEOC, to Representative Bob Wise, Chairman, House Subcommittee on Government Information, Justice and Agriculture, Washington DC, November 22 Holtzman NA, Rothstein MA (1992) Eugenics and genetic discrimination. Am J Hum Genet 50:457-459 Natowicz MR, Alper JK, Alper JS (1992) Genetic discrimination and the law. Am J Hum Genet 50:465-475 i 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0028$02.00
Am. J. Hum. Genet. 51:897, 1992
Reply to Natowicz et al. To the Editor: On several occasions the Equal Employment Opportunity Commission (EEOC) has specifically refused to interpret the Americans with Disabilities Act (ADA) as protecting individuals from genetic discrimination in employment if the affected individuals have not yet manifested symptoms of genetic disease. There is a possibility that the EEOC will change its position or that Congress or the courts will require the EEOC to do so. We would greatly welcome such a development. In our editorial, we were simply cautioning readers that, at the present time, it is an overstatement to say flatly that the ADA prohibits genetic discrimination in employment. Affected individuals, their families, and
Genetic Distinctions Are Not Necessarily Examples of Genetic Discrimination To the Editor: The comments of Natowicz et al. (1992), on what they allege to be "genetic discrimination," may have ominous consequences for public health and safety if some of the practices to which they object should be banned, as they urge. In their definition and application of the term "genetic discrimination" they assign a pejorative connotation to what may be, in some circumstances, legitimate social policy. Among other examples, they discuss the possibility that sickle cell trait predisposes to blacking out or other sudden crises, at low oxygen pressure. Natowicz et al. imply that such carriers should be allowed to be high-altitude pilots because "at present most clinicians believe that heterozygosity for sickle cell disease is not associated with any adverse effects, . . . [and regarding] abnormalities . . . reported . . . the association may be coincidental ... except possiblyfor abnormalities arising in certain physiologically stressful environments" (emphasis added) (p. 467).
The particular risks associated with sickle-cellcarrier trait are so inextricably mixed, in the public and even in the scientific mind, with race and ethnic background and with conceptions or misconceptions about ethnic or racial prejudice, that it would be best here to assume, optimistically, that Natowicz et al. are correct in their implicit assurances, however they may enfeeble their argument by the qualifications to which I've given emphasis in the above quotation. So consider, rather, an allele equally distributed in all subgroups of the population, which, while associated
Letters to the Editor Drs. Trigg and Geier (1992) state that the greatest honor and prestige that can be bestowed upon academicians is that their work be accepted and transferred to private laboratories "assuring that their research benefits mankind!" Really! How unworldly a view! In addition, these authors did not read my letter carefully and have missed (as did the Hechts) my quintessential message. I am not against private medicine or the transfer of technology. Care of the patient/family with or concerned about a genetic disorder is best achieved through comprehensive services by appropriately certified geneticists who see the patient and family. An academic versus a private setting is not the problem. Mega-commercial labs are the source of the current problems, for the following reasons: 1. They simply obtain samples directly from offices of private physicians, providing results that these physicians are incapable of interpreting. Worse still, these physicians are frequently unaware of their own limitations or of the extent of knowledge on the subject matter. 2. They do not see the patient or family, abandoning these individuals in total anguish and leaving the academic centers to pick up the bits and pieces. 3. In their rush to market new techniques, they ignore required adherence to licensing regulations, peer review, FDA approval, and ethical standards. 4. They often use genetic counselors with masters degrees to practice medicine - a highly inappropriate activity, whether it is done by telephone or in person in the offices of private physicians oblivious of their shared liabilities. Dr. Warren, probably the veteran of commercial genetics labs, finally, despite a host of misinterpretations in the first half of his letter, achieved laudable clarity in emphasizing that cytogenetics and biochemical and molecular genetics "are highly specialized esoteric laboratory tests requiring a team [emphasis added], including qualified counselors and physicians." Could anyone reasonably disagree? Current mega-commercial laboratory practices are inimical to the survival of academic-based genetic laboratories. Until such time as these ventures operate in ways that do not threaten academic laboratories, an interacademic laboratory referral directory will be helpful, and those who still plan to participate should do so immediately. Meanwhile, practicing physicians should be educated about the importance of compre-
hensive genetic care for their patients, whether it be in the academic or the "private" setting. AUBREY MILUNSKY Center for Human Genetics Boston University School of Medicine Boston References Hecht F, Hecht BK (1992) Descent into demonology and protectionism. Am J Hum Genet 51:893-894 Trigg ME, Geier MR (1992) On the relationship between academic and private genetic services. Am J Hum Genet 51:890-891 Warren RJ (1992) Survival of academic-based genetic laboratory services. Am J Hum Genet 51:892-893 © 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0027$02.00
Am. J. Hum. Genet. 51:895-897, 1992
Genetic Discrimination and the Americans with Disabilities Act To the Editor:
In their invited editorial, Holtzman and Rothstein (1992) maintain that our paper "Genetic Discrimination and the Law" (Natowicz et al. 1992) gives a "misleading impression of the protection provided by the ADA" (Americans with Disabilities Act) (p. 458). They go on to say that "according to the Equal Employment Opportunity Commission (EEOC), the agency charged with enforcing the ADA, an individual is not covered under the law until he or she is symptomatic (Blumenthal 1991). Consequently, presymptomatic individuals with late-onset disorders, such as HD and adult polycystic kidney disease, are not covered. Carriers of recessive disorders, such as cystic fibrosis, and carriers of X-linked disorders, such as DMD, are not covered and could be denied employment" (p. 458). We believe that Holtzman and Rothstein have misread Blumenthal's letter. Blumenthal's letter is a response to questions posed by Representative Bob Wise
Letters to the Editor
896
concerning the applicability of the ADA to genetic discrimination. In her answer to the first question inquiring whether the ADA protects individuals from discrimination based on genetic characteristics, Blumenthal does state that "Congress intended that the ADA only protect from discrimination individuals who have, have a record of, or who are regarded as having, existing physical or mental impairments" (p. 1 of attachment). She goes on to say that presently asymptomatic individuals who have a family history of conditions such as heart disease and cancer would not be protected by the ADA. We believe that Blumenthal has chosen these diseases as examples because, although these diseases are familial, they are causally heterogeneous and most frequently have a multifactorial mode of determination. She did not choose familial diseases whose etiology can be explained by a simple genetic causal mechanism, e.g., Huntington disease (see below). This distinction between multifactorially determined familial diseases and those with a straightforward genetic causal mechanism is suggested in the last paragraph of Blumenthal's answer to this question. She states that "many complex issues regarding the rapidly developing and expanding field of genetic testing for specific genetic diseases, and the use ofinformation obtained as a result of genetic testing remain. Because these issues are unique and outside the Commission's expertise, they should be resolved by means of legislation, not by agency regulation" (emphasis added) (p. 1 of attachment). Thus, contrary to Holtzman and Rothstein's statement in their editorial, Blumenthal's letter does not preclude the possibility that the ADA will provide protection to individuals who have a genetic diagnosis or condition but who are presently asymptomatic. Moreover, in response to questions 2-4 posed by Representative Wise, concerning an individual with a late-onset genetic disorder (e.g., Huntington disease) who is currently asymptomatic or is an asymptomatic heterozygous carrier of a recessive disorder (e.g., cystic fibrosis) or an X-linked disorder (e.g., hemophilia), Blumenthal offers the following response: "The Commission is unable to answer questions 2 through 4 at this time.... Questions 2 through 4 raise issues that cannot be decided in a vacuum but should be analyzed with the ADA's overall regulatory and subregulatory framework. For this reason, the Commission is not currently in a position to answer detailed questions concerning the applicability of the ADA's employment provisions to genetic discrimination beyond what was
said in the interpretive guidance that is discussed in response to question one" (p. 2 of attachment). This answer directly contradicts Holtzman and Rothstein's summary of Blumenthal's position quoted above. Question 6 asks whether the ADA "authorizers] the EEOC to expressly outlaw employment discrimination based on genetic characteristics" (p. 3 of attachment). Blumenthal replies that "for the reasons stated in the answer to question one, it appears that the Commission does not have authority to outlaw discrimination in employment based on 'genetic characteristics."' As is the case for the answer to question one, this answer should not be interpreted to mean that no form of genetic discrimination is outlawed by the ADA. We have discussed, in both our original paper and in the present discussion of Blumenthal's answer to Wise's first question, the differences between those forms of genetic discrimination that we believe to be prohibited by the ADA and those which are probably not prohibited. We hope that this somewhat detailed discussion of Blumenthal's letter makes it clear that, contrary to Holtzman and Rothstein's editorial, the EEOC has not ruled out the possibility that individuals suffering genetic discrimination will be protected by the ADA. It should also be pointed out that the regulations and comments produced by regulatory agencies such as the EEOC cannot lawfully change the substance of the laws they interpret (Natowicz et al. 1992). It will be the courts, rather than the EEOC, that will ultimately decide whether the provisions of the ADA apply to
genetic discrimination. In conclusion, we would like to make one further point. As we argued in our paper, we believe that the ADA provides significant protection for individuals suffering from genetic discrimination in the field of employment. However, even if there remains doubt about whether the ADA does indeed cover genetic discrimination, victims of genetic discrimination should not be discouraged prematurely from bringing lawsuits in reliance on the ADA. It is true, as we stated in our paper, that currently enacted legislation provides only limited protection against genetic discrimination, especially in the area of insurance underwriting. Nevertheless, it is only by prosecuting existing legislation, to the fullest extent possible, that the rights of all people with disabilities, including those people with real or perceived genetic disabilities, will be enforced and
extended.
897
Letters to the Editor MARVIN R. NATOWICZ,* JANE K. ALPERt, AND JOSEPH S. ALPER$ *Division of Medical Genetics, The Shriver Center for Mental Retardation, Waltham, MA; and Departments of Pathology, Harvard Medical School and Massachusetts General Hospital; TDisability Law Center; and $Department of Chemistry, University of Massachusetts-Boston, Boston Acknowledgment
their genetic-services providers should be aware that the state of the law is not clear. NEIL A. HOLTZMAN* AND MARK A. ROTHSTEINT *Department of Pediatrics and Department of Health Policy and Management, Johns Hopkins Medical Institutions, Baltimore; and f University of Houston Law Center, Health Law and Policy Institute, Houston © 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0029$02.00
We thank Dr. Neil Holtzman for providing us with a copy of Ronnie Blumenthal's letter to Representative Bob Wise. Am. J. Hum. Genet. 51:897-898, 1992
References Blumenthal R (1991) Letter and accompanying attachments from the Acting Director of Communications and Legislative Affairs, EEOC, to Representative Bob Wise, Chairman, House Subcommittee on Government Information, Justice and Agriculture, Washington DC, November 22 Holtzman NA, Rothstein MA (1992) Eugenics and genetic discrimination. Am J Hum Genet 50:457-459 Natowicz MR, Alper JK, Alper JS (1992) Genetic discrimination and the law. Am J Hum Genet 50:465-475 i 1992 by The American Society of Human Genetics. All rights reserved. 0002-9297/92/5104-0028$02.00
Am. J. Hum. Genet. 51:897, 1992
Reply to Natowicz et al. To the Editor: On several occasions the Equal Employment Opportunity Commission (EEOC) has specifically refused to interpret the Americans with Disabilities Act (ADA) as protecting individuals from genetic discrimination in employment if the affected individuals have not yet manifested symptoms of genetic disease. There is a possibility that the EEOC will change its position or that Congress or the courts will require the EEOC to do so. We would greatly welcome such a development. In our editorial, we were simply cautioning readers that, at the present time, it is an overstatement to say flatly that the ADA prohibits genetic discrimination in employment. Affected individuals, their families, and
Genetic Distinctions Are Not Necessarily Examples of Genetic Discrimination To the Editor: The comments of Natowicz et al. (1992), on what they allege to be "genetic discrimination," may have ominous consequences for public health and safety if some of the practices to which they object should be banned, as they urge. In their definition and application of the term "genetic discrimination" they assign a pejorative connotation to what may be, in some circumstances, legitimate social policy. Among other examples, they discuss the possibility that sickle cell trait predisposes to blacking out or other sudden crises, at low oxygen pressure. Natowicz et al. imply that such carriers should be allowed to be high-altitude pilots because "at present most clinicians believe that heterozygosity for sickle cell disease is not associated with any adverse effects, . . . [and regarding] abnormalities . . . reported . . . the association may be coincidental ... except possiblyfor abnormalities arising in certain physiologically stressful environments" (emphasis added) (p. 467).
The particular risks associated with sickle-cellcarrier trait are so inextricably mixed, in the public and even in the scientific mind, with race and ethnic background and with conceptions or misconceptions about ethnic or racial prejudice, that it would be best here to assume, optimistically, that Natowicz et al. are correct in their implicit assurances, however they may enfeeble their argument by the qualifications to which I've given emphasis in the above quotation. So consider, rather, an allele equally distributed in all subgroups of the population, which, while associated
