Ensuring consumer safety. Predictive testing for Huntington disease: Response to Dr. Seymour...

American Journal of Medical Genetics 45698-710 (1993)

Reply Essay Ensuring Consumer Safety. Predictive Testing for Huntington Disease: Response to Dr. Seymour Kessler, “Reinventing the Wheel”

Marguerite A. Chapman College of Law, University of Tulsa and Ethics Advisory Board for the Huntington Disease Presymptomatic Testing Program, Children$ Medical Center, Tulsa, Oklahoma

KEY WORDS: ethical issues in genetic testing, family systems theory, Hunt- ington disease, predictive testing, risk-altering tests, shame- bound family systems

INTRODUCTION Seymour Kessler’s writings about the psychosocial

dimensions of counseling families at risk for Huntington disease (HD) and other genetic conditions are quite familiar to me. The five chapters by Kessler, along with those contributed by Dr. Nancy Wexler and others, in the book edited by Kessler [19791 on Genetic Counseling Psychological Dimensions remain a valuable resource even today for students training to become genetic counselors. Kessler’s [19881 article on the preselection phenomenon provides a coherent conceptual framework for examining many of the themes that were sounded nearly a decade earlier in Wexler’s [1979] chapter on “Genetic ‘Russian roulette’: The experience of being ‘at risk‘ for Huntington’s disease.”

Contrary to the impression that Kessler may convey, his work (along with that of Maurice Bloch) applying family systems concepts to HD families is recognized by both me and the Canadian researchers. In my invited editorial [Chapman, 19921, I refer twice to the article by Kessler and Bloch [1989] on “Social System Responses to Huntington Disease,” once in the section from which Kessler selectively quotes and again in the section discussing the notion of the family as the client in medical genetics. On page 492, I specifically identify the expec- tation of survivor guilt and “the consequences of patient preselection discussed more recently [Kessler and Bloch, 19891” as two exceptions to my assertion that “the adverse results experienced by a significant number of

Received for publication September 24, 1992. Address reprint requests to Marguerite Chapman, J.D., LL.M.,

3120 East 4th Place, Tulsa, OK 74104-3189.

0 1993 Wiley-Liss, Inc.

persons whose test results documented a decreased risk clearly were not anticipated by medical ethicists and genetic counselors.” On page 493, I again credit Kes- sler’s work with Bloch, which nicely illustrates the value of applying a family systems approach to understanding the dynamics and consequences of HD, when I state: “Both reports [by the Canadians in the present journal1 support the view that the family, rather than the individual who seeks to determine more precisely his or her risk status, is really the patient in medical genetics [Kessler and Bloch, 1989 . . . I.”

In the report by Huggins et al. [19921 on the adverse effects and unexpected results identified among those receiving a decreased risk for HD, the Canadian researchers also refer twice to the family systems concepts described by Kessler and Bloch [19891. On page 514, Huggins et al. address the preselection phenomenon. On page 515, the Canadian researchers recognize parallels between the stress of ascertaining through predictive testing one’s risk status for HD and that experienced as a result of any significant change in social status, be it separation, death of a companion, or other change. In discussing the unrealistic expectations by some candidates of the effects of a decreased risk result, Huggins et al. [19921 attribute to Kessler and Bloch the recognition that “lclhange is more difficult t o assimilate when it is unexpected or contrary to perceived plans and dreams [Kessler and Bloch, 19891.”

Finally, I note that Maurice Bloch, the coauthor with Kessler of “Social Systems Responses to Huntington Disease,” is the coauthor of the Canadians’ two reports in the present journal. Also, Dr. Michael Hayden, another coauthor and a career investigator of the British Columbia Children’s Hospital, is one of three professionals to whom coauthors Kessler and Bloch [ 19891 express appreciation for “helpful suggestions and en- couragement.” In view of Kessler’s prior association with these researchers and the prior published reports of their work [Hayden et al., 1988; Wasmuth et al., 1988; Bloch et al., 1989; Fox et al., 1989; Huggins et al., 19901, I find the content, tenor, and timing of Kessler’s letter to be rather puzzling at best.

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“REINVENTING THE WHEEL”? I chose to cite Kessler and Bloch’s [1989] article on

“Social System Responses to Huntington Disease” in Family Process because it refines, expands, and presents selected cases to support the application of the family systems concepts described less comprehensively in the three 1987 publications from which Kessler selectively quotes and which, of course, are referenced by Kessler and Bloch. The 1989 article also discusses and underscores the need for society to address many of the same institutional, economic, and psychosocial problems that were illuminated 15 years ago in the Report of the Com- mission for the Control of Huntington’s Disease and Its Consequences [US. Department of Health, Education, and Welfare, 19771. Mrs. Marjorie Guthrie, Dr. Milton Wexler, and Dr. Nancy Wexler served as chair, vice chair, and executive director, respectively, of the Com- mission, and Professor George Annas and Dr. Arthur Falek chaired the respective working groups on “Med- ico-Legal-Ethical” issues and “Guidance and Counsel- ing.” The Commission’s endeavors were supported by fifteen such working groups.

Ironically, it is readily apparent upon rereading the 1977 Commission Report that, to a certain extent, the writings of many of us, including Seymour Kessler, could be characterized as “reinventing the wheel.” The impact of HD on the family was certainly recognized by the Commission 15 years ago:

Huntington’s disease is a family disease. Every member of the family is affected-emotwnally, physically, socially-whether patient, at risk, or spouse. And the disease occurs not once, but over and over again in successivegenerations. [US. Department of Health, Education, and Welfare, 1977, emphasis in the original1

Still other findings of the 1977 Commission strike many of the family dynamics themes that were invoked and amplified a decade later by Kessler:

Individuals and families confronted with Hunt- ington’s disease are at high risk to develop serious emotional problems. All family members experience serious psychological stress in reaction to emotion. . . . What is true of Huntington’s disease patients and families is true of others faced with life-threatening conditions. [US. Department of Health, Education, and Welfare, 1977, emphasis supplied]

In discussing the limitations of “traditional” genetic counseling, the 1977 Commission stressed the need for research of the psychosocial dimensions of genetic counseling and the provision by genetic counseling programs of access to long-term support and follow-up [US. De- partment of Health, Education, and Welfare, 19771. In support of their recommendations, the Commission observed

Decisions and attitudes change as patients, individuals at risk, and other family members adjust over a

long period of time to living with the disease or the threat of the disease. Little is known about the impact of genetic counseling on individual behavior. Much research is needed to evaluate the effects of genetic counseling in terms of information assimila- tion, emotional reaction, and influence on such major life decisions as career choice, marriage, and parenthood.

Over a decade later, Kessler and Bloch echoed and refined some of these themes when they noted

[Tlhe psychosocial aspects of the disorder have received relatively litle attention. [Wlith few notable exceptions, family dynamics and systems issues have been neglected. Greater understanding of systems issues is needed to increase the effectiveness of counseling or therapeutic work with families in which HD occurs. This is particularly important in preparing families for presymptomatic testing and providing later follow-up. [Kessler and Bloch, 1989, references omitted]

Finally, the Commission’s recommendation that appeared to be primary to all others was the “urgent and overwhelming plea” from HD patients and families na- tionwide “for increased support of biomedical research,” including the development of a safe and reliable presymptomatic detection test [US. Department of Health, Education, and Welfare, 1977, vol. 1, p. xixl. The Com- mission’s insistence upon a “safe and reliable” predictive test, when juxtaposed beside Kessler’s invocation of the wheel metaphor, prompts an analogy to the separate work of Japanese and American companies to improve the safety of passenger cars by designing a better and safer passenger tire. The idea is to produce a tire that will hold up for at least another 50 miles a t a speed of up to 55 miles per hour even when the tire is depleted of air [Hicks, 19921. The Japanese company reportedly is also redesigning the wheels of passenger cars to accommodate their new tire design; in contrast, the American prototype apparently will fit on any standard wheel [Hicks, 19921. Similarly, American researchers [e.g., Brandt et al., 1989; Meissen et al., 19911 as well as the Canadians, are examining the adequacy and appro- priateness of their protocols by carefully documenting and analyzing the psychosocial dimensions of predictive testing for HD. The overriding concern of their work is the safety and well being of predictive testing candidates and their families. Rather than “reinventing the wheel,” their energies, metaphorically speaking, are devoted not only to ensuring the structural integrity of the wheel but also to designing a safer, more reliable tire.

QUOTES, CONTEXT, AND CLARION CALLS In the section of my editorial, [Chapman, 19921 from

which Kessler selectively quotes, I assert that “[tlhe literature that preceded or coincided with the development and implementation of testing protocols. . . repeatedly commented on the benefits that predictive testing offered to those receiving results indicating a

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decreased risk.” I then reference the writings of Craufurd and Harris [1986] and Wexler et al. [19851 to illustrate the recurring themes that seem to pervade the literature ofthat time frame. I conclude that the “ethical and psychosocial concerns focused predominantly, if not exclusively, on the adverse effects among those receiving an increased risk. Finally, having earlier identified the possible adverse consequences stemming from survivor guilt and patient preselection as exceptions to my assertion, I state that “the adverse effects [described by Huggins et al., 19921 experienced by a significant por- tion of persons receiving decreased risk results in the Canadian Study simply were not anticipated.”

In the interest of brevity and to avoid distracting from a number of lessons that I believe could be drawn from the Canadians’ work, I did not reference other literature in support of my assertions. However, in view of Kess- ler’s contentions, I will now review additional references that analyze the benefits and risks of offering a predictive test for HD. My review is not exhaustive of all of the ethical discussions, but I believe it encompasses most of the significant analyses published during the relevant time frame. I will begin by briefly describing ethical commentary that appeared in the early 1970s. Next I will examine several findings and recommendations set forth in the Report of the 1977 Commission. Then I will proceed chronologically to highlight ethical discussions that were published prior to the announcement by Gusella et al. [19831 of mapping the HD gene to chromosome 4 and after predictive testing for HD became possible using linked DNA markers. I conclude with a contextual analysis of three 1987 publications that Kessler either authored or coauthored.

Analyses of the Risks and Benefits of Developing a Preclinical Test for HD

Writing for The New England Journal of Medicine, Stevens [19711 discussed various efforts during the early 1970s to develop reliable presymptomatic tests for HD. “[Tlhe person who does not have the gene,” Stevens wrote, “will be assured that the disease will not develop, and resulting from this, he will be told that he can have children, safe in the knowledge that they will also be unaffected [Stevens, 19711. Those who test positive, however, may “be plunged into despondency when they learn that their fate is to be the gradual physical and intellectual decline that the disease evitably brings . . . depression and the risk of suicide would be more or less inevitable” [Stevens, 19711. Writing to counter Stevens’s dire predictions of the effects of positive test results, Rothstein [1971] commented in the same journal on the value and importance of “giv[ingl a person [who tests positive] time to prepare emotionally, financially, and in other ways, so that when the symptoms appear they are not so devastating to the patient and family as they might otherwise be.” Rothstein [19711 suggested that “[gliving the patient time to cope, prepare, and plan while still healthy may actually reduce the possibility of suicide” [emphasis added].

In discussing the benefits of developing a predictive test for HD, the 1977 Commission wrote:

A safe and reliable presymptomatic test would at least relieve the burden for half this group. They would be free-free to be clumsy, to trip, to drop things, to get angry, to cry and feel sad-without the constant fear that these normal human experiences mark the onset of the disease. They would be free to love without fear of imposing a future burden, to marry and to have children secure in the knowledge that their children would be safe from the disease. [US. Department of Health, Education, and Welfare, 1977, vol. 1, p. 21

The risks of predictive testing were described by the 1977 Commission as follows:

For those for whom the test proved positive, however, in the absence of effective treatment there are very real dangers: despair, withdrawal, abandon- ment, even suicide. Family relationships could be strained to the breaking point if some members were identified as carriers and others were not. The heartbreak of parents in raising healthy, normal children whom they know are destined to be stricken might be too great to bear. [US. Depart- ment of Health, Education, and Welfare, 1977, vol. 1, p. 21

Three years later, Emery [1980], in an invited editorial that appeared in Neurology, opined that predictive testing for HD “would only be justified once an effective treatment had been found.” With regard to preclinical testing of at-risk individuals, perhaps using a biochemical pharmacologic test or the CT, Emery observed: “[Slome might be reassured by a predictive test, but unless the test were highly sensitive and detected all preclinical cases, some might not be convinced by the results” [Emery, 19801. In Emery’s view:

The main problem lies with those who would have to be informed that instead of living in the hope that they might have escaped the disease, they now have to accept the near certainty of developing the disease at some time in their lives. Some might cope with this, but there is no way of knowing beforehand who will or will not be able to cope. In my experience, having discussed this matter with many at- risk individuals, most would prefer to live in the hope of being unaffected rather than risk being told that there is a certainty of becoming affected. In any event, continuing supportive counseling, in its widest sense, would have to be provided for all those who proved to be preclinical cases. [Emery, 1980, emphasis added1

The following year, Perry [1981] reviewed the ethical concerns and controversy engendered by the adminis- tration of a preclinical test for HD involving L-dopa loading and the intentional provocation of symptoms in young adults whose parents had HD. In discussing the value of developing an “accurate preclinical test” for HD, “one that worked best when started early in the

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disease, before significant anatomic damage had oc- curred in the brain,” Perry said:

Since no [effective form ofl therapy [for Hunt- ington’s chorea1 is currently available, a reliable preclinical test could become a two-edged sword. It would be rewarding to be able to tell approximately half of thepersons at risk that they would never have Huntington’s chorea and that they could safely re- produce. But what of the consequences for the un- lucky 50% that the test indicated were heterozygotes? What if the bad news led some individuals to abandon plans for their education, to squander their sav- ings or even to commit suicide? [Perry, 1981, emphasis supplied].

Based upon his review of research proposals for predictive testing for HD, Perry expressed concern about “the cavalier attitudes of some investigators” [Perry, 19811. Further, in view of the vexing ethical problems presented by the L-dopa test, Perry [19811 asserted “that, pending development of an effective form of treatment, scientists who perform preclinical tests on persons at risk should ensure that the results of individual tests are not made available to those tested.”

In Genetic Prophecy: Beyond the Double Helix, coauthors Harsanyi and Hutton [1981] asked how a predictive test for HD would be used if one were developed. They pondered:

I t would be easy enough to inform those who did not inherit the gene; by doing so, we could ease the fear and uncertainty of an unknown genetic burden. But what of those who carry it? Knowing that they are doomed to suffer neurological decline and death soon after the age of 40 must have an inevitable impact on their lives. Some may respond well to the information, others poorly. Some may decide to take the chance of having children, others may go childless. The usefulness of the knowledge de- pends upon very personal factors. How do we dis- tinguish among those whom it would help and those whom it would hurt? [Harsanyi and Hutton, 1981, emphasis added].

The following year, Thomas [19821 writing for the British Medical Journal, consulted Index Medicus and 18 other publications in an effort to assimilate and describe the deep divisions within the medical profession over the ethics of predictive testing for HD. Thomas [ 19821 relied heavily upon the ethical analysis of Stevens [1971] and the counterpoint by hthstein 119711 in assessing the potential risks and benefits of predictive testing. In view of the potential for severe adverse effects of a positive test result, Thomas noted that some professionals “would prefer to see any future test with- held from every applicant until such time as radically improved means of treatment or a cure is discovered” [Thomas, 19821.

Marsden [1983], writing in the Annals ofNeurology in reaction to the review by Klawans et al. [19801 of various attempts to develop a predictive test for HD, asked:

“What will the consequences be when such an established test does become available?” “In essence,” Mars- den said, “since there is yet no cure for Huntington’s disease, those with apositive result will face aprotracted certain death sentence, although those fortunate enough toprove negative will have the cloud of uncertainty lifted (assuming that such a test is infallible in predicting both potential outcomes)” [Marsden, 1983, emphasis added]. In his view, in the absence of an effective treatment for HD, “it is kinder to ask those at risk of the illness, but lucky enough not to have inherited it, to forego such a test and live with their uncertainty in order to provide the other 50% who carry the lethal gene with some hope during their remaining years” [Marsden, 19831. Therefore, even with the development of a proven predictive test for HD, Marsden [ 19831 would not have offered a predictive test until a treatment for HD became available.

RisWBenefit Assessment Following Gusella’s Discovery in 1983

Gusella et al. [19831 reported that using a large unique-sequence probe, the polymorphic DNA marker showed linkage of the HD gene to human chromosome 4 at the G8 locus. However, Gusella cautioned that the resolution of a number of questions was needed to clarify the clinical applicability of the discovery [Kurlan, 19851.

In 1984, The Hustings Center Report and IRB published analyses by Rosenfeld and MacKay, respectively, of the ethical ramifications of the actual development of a predictive testing using recombinant DNA technology. Rosenfeld 119841 observed that among the advantages of knowing rather than not knowing one’s actual risk status, “the potential HD victim. . . may discover that he is not a carrier, and thus be granted a freedom from anxiety he has never before experienced. . . [en]abl[ing him] to act as freely as anybody else on all his important decisions, including whether to marry and have children” [emphasis added]. Rosenfeld [19841 warned, however, of the risk of survivor guilt among those found to be at decreased risk. Rosenfeld 119843 cautioned: “Even if a person at risk proves to be disease- free, this does not mean he will be problem-free; as Wexler point outs, he may be subject to all the guilt and anxieties that comes with ~urvivorship~’ [emphasis added]. In an article published about one month later, Charles R. MacKay, the Deputy Director of the Office for Protection from Research Risks, National Institutes of Health, tracked the concerns of the 1977 Commission in discussing the advantages and disadvantages of predictive testing:

For those confirmed as carriers of the gene, living would become a prelude to inexorable deterioration. Even in the development phase of such a test, preliminary findings could only intensify dread, uncertainty, bewilderment, regret, or lead to decisions based on erroneous information. [MacKay, 19841

On the other hand, MacKay [1984] wrote, using a presymtomatic test for HD “could lead to prevention and

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eventual elimination of the disease from the population; to relief from the burden of fear and uncertainty for those not carrying the gene; to allowing all those at risk to make critical life decisions with adequate knowledge and certainty about their individual fu- tures; to possible early interventions that might stave off or diminish the full impact of the symptoms” [MacKay, 1984, emphasis supplied].

Koller and Davenport [1984], writing in the Annals of Neurology about genetic testing for HD, said that “[tlhe results of a reliable genetic test would produce two groups: those who have escaped the disease and those who possess the gene.” They noted the speculation that “the latter group will be deprived of all hope and be prone to despondency and possible suicide” [Koller and Davenport, 1984, citation omitted]. As a counterpoint, they, too, commented on the opportunity for those who test positive to cope, prepare, and plan, since “[slymptoms may not occur for many years, and useful lives are possible for some time even after the onset of symptoms” [Koller and Davenport, 19841. Finally, they emphasized the importance of administering predictive testing for HD “in a carefully supervised manner,” utilizing social workers, psychologists, and neurologists familiar with HD to provide both pre- and post-test counseling and support and “collect[ing] data regarding the psychological implications for tested carriers and the possible determinants of subsequent constructive and destructive behavior.” [Koller and Davenport, 1984, emphasis added].

Perhaps the most thoughtful, well written discussion of the ethical and psychosocial implications of predictive testing for HD was provided by Stephanie Bird 119831 writing in the Journal of the American Medical Associa- tion. In an article that in hindsight I find genuinely prescient, Bird pondered: “Given the substantial impact of test results, one may wonder whether those at risk would in fact avail themselves of a predictive test” [Bird, 19851. Commenting on the challenges ofpretest counseling of at-risk individuals, Bird noted that “those whose decisions would not be altered by test results might well not be interested in a predictive test.” Set against the backdrop that families a t risk for HD “already may be psychologically stressed anyway,” Bird posited that the advent of predictive testing may be inherently divisive for families, dividing members into categories based on those with the gene, those without it, and those who do not want to know, with membership in any category having “serious psychological significance” [Bird, 19851. Discussing the possibility of adverse consequences of being at decreased risk, Bird wrote: “Those without the gene will feel relieved but are likely to have close family members who have not escaped and therefore will experience “suruiuor guilt” [Bird, 1985, emphasis supplied]. Finally, she observed that “[allthough pretest and posttest counseling is highly desirable, how much counseling should be requisite to a predictive test is a significant issue” [Bird, 19851.

Discussing the pathogenesis and management of HD in the New England Journal of Medicine, Martin and Gusella Ll9861 described the potential influence of predictive testing on the life of an at-risk person and his or

her family. They wrote about the necessity of counseling “for the whole family, not just for the persons who may be at risk” [Martin and Gusella, 19861. In assessing the advantages and disadvantages of undergoing predictive testing, they warned:

Many persons who are at risk may seek testing to help them plan their lives and decide whether to have children. The information obtained, however, could have a devastating impact on both the patient and the family. The suicide rate among patients with Huntington’s disease is considerably higher than the population average. Perhaps of greatest immediate concern, therefore, is the effect of giving “positive” test results to a person who may have a gene that has a considerable influence on cognitive and emotional functions. Other ill effects of testing [positive] could be disruption of family life, marital stress, divorce, or loss of employment. Even a “negative” test may have a heavy psychological impact, particularly in situations in which a close sibling has had a ‘positive’ test for the gene [implying survivor guilt]. [Martin and Gusella, 19861

Markel et al., [19871 writing in the present journal cautioned genetic testing centers of the “dificult[y ofl antic- ipatiingl just how this test will affect the at-risk person” and cautioned of the need to be prepared to address “other uncertainties.” They underscored the need to provide a continuum of counseling, “before the test, while waiting for the test result and afterwards,” irrespective of test results. They also cited the potential for survival guilt to justify post-test counseling of those found to be at decreased risk:

Not only should those with positive or uncertain test results receive posttest counseling, but those with negative test results should also since each test outcome is likely to have dramatic impact on one’s life. Those found not to have the gene may experience “survivor guilt” since they may have escaped the disease while close relatives may have not [Wexler, 19841. [Markel et al., 1987, emphasis supplied]

Meissen and Berchek [19871 also writing in the present journal, quoted Wexler et al. [19851 in repeating the theme of contrasting outcomes: “ ‘[Als there is nothing that can be done for the illness, an at-risk person wish- ing to be tested for the sake of knowledge and planning alone gambles for very high stakes: salvation and delivery from a lifetime of anxiety and ambiguity or a virtual death sentence to be rendered by a quixotic, but inesca- pable, executioner [Wexler, 19851.’ ” Meissen and Ber- chek t19871 expressed particular concern about the risk of psychological morbidity and suicide among those who were found to be at increased risk:

Positive test results will produce difficult situations. Some will confirm their worst fears, then have to learn new ways to cope. A positive result would make denial a less viable coping strategy. Even though no participant suggested suicide and only

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11% predicted serious emotional difficulty as a reaction to positive results, we believe such negative reactions are underestimated in our data. . . Most experts in this area believe that mental health problems and suicides will increase in this group [Kess- ler et al., personal communication; Wexler et al., 19851.

In the final analysis, Meissen and Berchek [19871 emphasized the importance of “develop[ing] screening de- vices to predict which at-risk individuals will be most vulnerable to positive results and strategies to help the presymptomatic cope with their new status [Wexler et al., 19851.”

“Horn Tooting” and Hindsight: Context As Message

In The Medium Is the Massage 119671, published a quarter of a century ago, Marshall McLuhan, Director of the Center for Culture and Technology at the University of Toronto, and Quentin Fiore, his coauthor, assert that societies have always been shaped more by the nature of the media by which people communicate than by the content of the communication. A careful rereading of Kessler’s 1987 publications suggests that instead of the medium being the message, the context may be read as the message.

The primary foci of the 12-page article by Kessler et al. [19871 in the present journal are: (1) presenting the data summarizing the attitudes of 69 at-risk individuals toward undergoing predictive testing for HD, (2) examining the potential for “severe psychiatric or suicidal responses to apositive outcome [increased riskl of predictive testing,” and (3) “underscor[ingl the need for adequate pretest counseling and the availability of professional and community resources to deal with the impact of predictive testing on individuals and their relatives” [Kessler et al., 19871. Kessler and his three colleagues state: “We would like to focus particular attention on the potential for psychiatric difficulties and/or suicide following a positive result in predictive testing.” In this regard, they set forth three indices of potential future difficulties. Their comments about the possible adverse effects flowing from a negative [decreased riskl test result are inserted near the end of a lengthy paragraph describing the third index for anticipating psychological morbidity from positive test results. Curiously, in his current letter to the editor, Kessler fails to quote the four coauthors’ concluding thoughts on survivor guilt, found at the end of the same paragraph:

It may be more realistic to assume that habitual patterns of acting and thinking will continue to dominate the person’s interactions with life. In this regard, survivor guilt may play a role in maintain- ing past behavior and guilt. [Kessler et al., 1987, reference omitted.]

In addition, Kessler’s 3-page piece entitled “The Di- lemma of Suicide and Huntington Disease,” which appeared in 1987 as a letter to the editor of the present journal, underscores the need for professionals who provide pretest information and counseling to take into

account the relative increase in attempted and completed suicides among HD patients. He notes “[a] marked association between suicidal history and the presence of depression and/or recurrent affective disorders within the family” [Kessler, 1987al. Then, Kessler predicts that the “likelihood of depressive reactions to positive test outcomes among at-risk individuals is high, given everything known about responses to adverse medical diagnoses” [Kessler, 1987b, emphasis supplied]. The letter advises that “optimal management” of depressive reactions “to the receipt of ‘bad news’ ” may be “an important determinant of the number of post-test casualties due to suicide” [Kessler, 1987al.

Kessler’s article in the April 1987 issue of the Ameri- can Journal of Orthopsychiatry is devoted predominantly to the potential for psychiatric problems existing among those testing positive [at increased risk] for HD and for their relatives. Kessler’s observation that “some individuals who receive negative test outcomes may also have psychiatric difficulties” appears near the end of his 3-page discussion of four issues meriting particular attention for predictive testing candidates who may experience major psychiatric sequelae. The discussion of these four issues focuses overwhelming on the impact of positive [increased risk] test results. Set against the backdrop of the entire 8-page article, Kessler’s one paragraph devoted exclusively to adverse outcomes among those receiving negative [decreased risk] test outcomes does not read as a central concern of his piece. Moreover, Kessler’s selective quotation again fails to include the last sentence of the paragraph: “Survivor guilt may become prominent i f an individual‘s test result is negative and siblings are found to be HD gene carriers” [Kessler, 1987bl.

In sum, when Kessler’s quoted sentences and present letter are read within the context of each article and against the backdrop of these three 1987 publications, I do not discern the same degree of prescience that Kessler appears to divine with the enhanced power of hindsight in the quotations that he now highlights. Perhaps the message of what he apparently views to be clarion calls was obscured by the total context and the cumulative effect of his writings that year. Most astounding, especially when set against the backdrop of his own 1977 publications, is Kessler’s present assertion that “[tlhe major (and again, unsurprising) demonstration of the Canadian research is that the overwhelming majority of persons participating in predictive testing for HD appear to adjust to and cope very well with the news they receive” [emphasis supplied]. Finally, with regard to Kessler’s concerns about “crowing77 by researchers, I think the only verbal expression resembling the sound of the proverbial rooster taking credit for the dawn is that which emanates from Kessler himself.

THE CANADIANS’ UNANTICIPATED ADVERSE RESULTS AND OTHER

FINDINGS REGARDING CANDIDATES AT DECREASED RISK

In light of the above analyses of the writings of Kessler and others, I will review the unanticipated adverse re-

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sults identified by the Canadians among candidates de- termined to be at decreased risk. As of January 1,1991, a total of 388 persons had enrolled in the Canadian collaborative study of predictive testing for HD [Hug- gins et al., 19921. Of these participants, 105 individuals have been given a decreased risk result [Huggins et al., 19921. Probably the most significant adverse effect to which both Huggins et al. [ 19921 and my editorial refer is the finding that approximately 10% of candidates who tested negative [at decreased risk1 experienced coping problems of such serious magnitude that “professional intervention and on-going counselling in addition to that provided in the structured predictive testing protocol” was needed. The published protocol included exten- sive psychosocial assessment of all candidates, irrespective of results, following disclosure of risk modification and the on-going provision of counseling not only during disclosure but also at established intervals beginning a few days and extending at prescribed intervals for 24 months following disclosure. Additional psychosocial support was provided as needed by a member of the Canadian team who was available 24 hours a day by pager and by the inclusion of a companion chosen by the candidate to participate in the protocol. Most persons receiving a decreased risk for HD “had fewer depressive symptoms and have coped well” within the framework of psychosocial support provided by this protocol. Thus, the structured protocol adequately accommodated the less serious psychological difficulties, anxieties, and mal- adaptive responses that were experienced by some of the approximately 90% of the candidates who were at decreased risk.

What Kessler does not seem to acknowledge is the differentiation reflected in the Canadian study between those who were able to adjust to their decreased risk status within the structuredprotocol and the 10% whose difficulties in coping with the “good news” were so significant that additional support was required, including voluntary admission to a psychiatric hospital in the case of a candidate who became seriously depressed and suicidal. Huggins et al. 119921 describe experiential themes among those candidates who “had extreme difficulty coping with change to low risk” or were “psychologically unprepared for a low risk result.” In one instance, the spouse of a candidate who received a low risk result unexpectedly experienced significant stress adapting to his wife’s new status. I find nothing in Kessler’s selectively quoted publications that either: (1) addresses these differences in degree of coping problems among those who experience psychological difficulties or (2) suggests a quantifiable number of those at decreased risk who could be predicted to experience extreme psychological problems requiring psychosocial support beyond that provided by the protocol (in contrast to the large numbers of individuals for whom the protocol was adequate).

Another unanticipated result was the finding by the Canadian researchers involving survivor guilt. While “survivor guilt [was] a factor in a small number of these cases” of individuals who had significant difficulties coping with their decreased risk status, it was “not a major cause of stress or depression among most partici-

pants” [Huggins et al., 19921. Thus, the Canadians conclude that “[o]verall . . . survivor guilt has not been a major cause of stress or depression among participants with a decreased risk for HD in our program” [Huggins et al., 19921. This finding is surprising in view of the numerous prior expressions of concern about survivor guilt [Wexler, 1984; Rosenfeld, 1984; Bird, 1985; Wexler et al., 1985; Martin and Gusella, 1986; Markel et al., 1987; Kessler et al., 1987; Kessler 1987bl. However, as the Canadians suggest, long-term follow-up of these candidates may produce different findings, particularly as those who are a t decreased risk interact with family members who are experiencing the onset and inexorable progression of the clinical manifestations of HD.

Huggins et al. [19921 also identified two common themes among those candidates who had significant adverse reactions to their decreased risk status: (1) problems stemming from having “unrealistic overoptimistic expectations of the positive effects of a decreased result” and (2) problems attributed to ‘‘havLing1 made significant and in some instances irreversible decisions based on the belief they would develop HD.” The finding regarding the first group is consistent with and reinforces Kessler’s quoted statements. On the other hand, the coping problems experienced by the second group seem to transcend the maintenance by candidates of “many beliefs about the self and the world” in the face of “potent logical counterarguments or empirical challenges” [Kessler, 1987bl and stem more directly and pragmat- ically from “the difficulty of trying to reverse what were in most instances irreversible actions”-a problem por- tended by Bird 119851.

Huggins et al. [19921 pinpointed differences in periods of vulnerability among predictive testing candidates. According to Bloch et al. 119923, short-term data an- alyzed to date indicates that the critical time for adverse events for persons with an increased risk for HD is within the first month after receiving results. In contrast, Huggins et al. [19921 report that “[allmost all candidates receiving a decreased risk immediately feel joyful and experience considerable relief’; “[wlith one notable exception, the depressive symptoms became evident at least 2 months after receiving results.” Thus, “the most vulnerable time for persons receiving a decreased risk result is between 2 and 12 months after learning the outcome” [Huggins et al., 19921.

Huggins et al. [19921 caution that while “it is imposs- ible to predict in all instances when support might be needed, it is helpful to recognize that the pattern and timing of adverse responses to predictive testing is different in the increased and decreasedxisk groups.” They emphasize the need for assessment and counseling of participants in predictive testing programs, “even when there is a decreased risk result” [Huggins et al., 19921. They also encourage partners of predictive testing participants to become involved at all stages of the testing protocol, primarily to provide support to the at-risk individual. Finally, they observe that “it may be equally important to explore the impact of such testing on other family members, as part of the precounselling process and to make counselling available for all family members” [Huggins et al., 19923.

Ensuring Safety 705

THE FACTS ABOUT PREDICTIVE TESTING FOR HD IN CANADA

A review of the total complement of published articles by the Canadian researchers, most of which are cited in my editorial, indicates that Kessler’s criticisms miss the mark in a number of other ways. First, the British Columbia pilot program of predictive testing for HD was begun in November 1986 [Fox et al., 19891, prior to the publication of Kessler’s selectively quoted articles in the April 1987 issue of the American Journal of Ortho- psychiatry and the February 1987 issue of the American Journal of Medical Genetics. An overarching objective of the British Columbia pilot project was to “measure any alteration in quality of life for theparticipants as a result of learning of a change in risk status” [Fox et al., 1989, emphasis supplied].

Secondly, to the credit of the Canadian group, they resisted efforts “in the initialplanning[by] the reviewers of the predictive testing protocols [who] emphasized the vulnerability of increased risk participants and raised doubts as to the justification forproviding careful follow- up topersons receiving a decreased risk” [Huggins et al., 1992, reference omitted, emphasis added]. Both the content of the previously published outline of their protocol and their insistence upon adherence to it by those with decreased risk results, as well, are two key indicators that the Canadians did anticipate adverse psychological sequelae by some in adjusting to the “good news” of decreased risk [see Fox et al., 19891. In an early report describing experience with this protocol, the Canadians observed that “[tlhe change of status with a decreased risk status may also create unexpected stress due to change in role” [Fox et al., 19891. Further, they commented that “[rlegardless of whether the risk is increased or decreased, there are often issues that candidates wish to discuss in follow-up meetings”; these issues included the far-reaching impact on other family members of ascertaining one’s risk status, positively or negatively [Fox et al., 19891.

Third, contrary to the impression given by Kessler, the Canadians were not wed to a “medical model” of psychological counseling or a traditional genetics model in designing the protocol for the HD predictive testing pilot program. Kurlan’s conference report written in April 1984, indicates that Dr. Michael Hayden was one of 20 participants who joined Gusella in the Hereditary Disease Foundation Workshop on Recombinant Disease to discuss the clinical impact of recombinant DNA research on neurogenetic disease [Kurlan, 19851. This workshop not only discussed technical aspects of presymptomatic testing for HD using Gusella’s recently discovered G8 probe, but also examined the “many ex- tremely serious issues covering a wide variety of disciplines, the major ones of which are “psychology, soci- ology, ethics, and genetics” [Kurlan, 19851. Hayden was among the 21 participants who agreed that among the most pressing issues in developing a protocol for predictive testing for HD was the provision of “emotional and social support for persons and their family members who are undergoing testing” [Kurlan, 19851.

Fourth, as they endeavored to develop a protocol that

transcended the medical and traditional genetics models, they did draw from literature published between the 1960s and the mid-1980s in clinical psychology, behavioral psychology, psychiatric, health psychology, and mental health publications on topics such as “life events, social support, and illness,” “thinking and depression,” “relationship of separation and depression to disease,” “social support as a moderator of life stress,” “conceptualization and measurement of health for adults,” “assessment of methods for measuring social support,” “the social readjustment scale,” etc. [Fox et al., 19891. The Canadians utilized published research specifically addressing the socio-psychiatric consequences of HD. They incorporated into their protocol ideas about psychiatric distress, life satisfaction, and family relationships from such sources as Sanity, Madness and the Family: Families of Schizophrenics by Laing and Ester- son and The Quality of American Life by Campbell, Converse, and Rogers [Fox et al., 19891. The Canadians’ “Knowledge and Attitudes Questionnaire,” used along with a number of other instruments in the psychosocial assessment of predictive testing candidates, includes statements focusing on matters such as “marriage, mood, personal problems, anticipated problems with their children and spouse, their ability to plan for their family’s future, and the effect on close personal relationships’, [Fox et al., 19893. Similarly, their “Life-styles Assessment” elicits a broad spectrum of pretest information ranging from attendance at religious services to marital status, degree of satisfaction in present relationship with spouselpartner, extent to which at-risk status has already influenced financial planning and spending habits, and likely effect oftest results on future marital, reproductive, and career plans [Fox et al., 19891. To identify changes in life style, the protocol solicits similar information at all post-test follow-up meetings [Fox et al., 19891.

Fifth, during the same year that Kessler published his selectively quoted pieces, Dr. Michael Hayden, the prin- cipal investigator of the British Columbia pilot program, had already begun to present the preliminary results of the B.C. predictive testing program, first at the Annual Workshop Weekend for the Huntington So- ciety of Canada and later on October 18, 1987, at the Huntington’s Disease Symposium “Presymptomatic Testing Seminar” in San Francisco (sponsored by the Huntington’s Disease Society of America with a grant from the National Institutes of Health Office for Pro- tection from Research Risks). The written transcript of Dr. Hayden’s remarks at the October 1987 seminar clearly reflect Hayden’s recognition of family dynamics in working with the 43 at-risk individuals who had requested testing. In describing experiential themes discerned among the 9 who had actually been informed that test results showed them to be at decreased risk, Hayden remarked:

So many people live their lives as if they are going to get Huntington’s Disease, and so they may not get married, they may not have children. Many people have gotten involved in different patterns of relationships on the assumption they are going to get

706 Chapman

Huntington’s Disease. All of a sudden you take that away, and whilst that is wonderful news, it is also stressful. You are causing a change in status of that individual. All of a sudden they’re changing the way they’re relating to men, or women, or whatever the case is. [Transcript of Huntington’s Disease Sympo- sium, Oct. 19871

Later, in the same transcript, Hayden again “Cog- nizes the difficulties that some of the B.C. predictlve testing candidates experienced in adapting to the “good news” of decreased risk status:

This is somebody else’s input: “First my thought of the testI thought all my problems had been solved, but now all popping back and I have no excuse,,, M~~~ people have said, L L ~ ~ ~ know, ym really sort of anxious because ljm at-risk for Hunt- ington’s ~ i ~ ~ ~ ~ ~ , you know. I really do that; my parent has Huntington’s ~ i ~ ~ ~ ~ ~ , ” and lots of ex-

take that away, people say, “God, I always used

else now.” That’s good news, but it does also create stress. Around a month to 6 weeks after this information, as people start integrating this into their lives, we’re learning that they do, in fact, experience stress. [Transcript of Huntington’s Disease Sympo- sium, Oct. 19871

Sixth, in a report in the present journal on the first 85 persons at risk for HD who had enrolled in the predictive testing pilot program by then, 20 of whom had received results (12 were at decreased risk and 8 were at increased risk), it is quite evident that Hayden et al. [19881 recognized that “for most participants in this program this [predictive testing for HD, irrespective of a positive, negative, or uninformative result1 is experienced as a major life event.” They conclude by stressing “[tlhe importance and availability of ongoing counseling and support . . . to help persons to integrate this information [informative predictive test results] and to mitigate untoward psychological effects” [Hayden et al., 19883.

Seventh, as the Canadians proceeded with the pilot program, they did take into account contemporaneously published literature on related topics, including the 1987 article in the present journal on “Attitudes of persons at-risk for Huntington disease toward predictive testing” by Kessler and his three colleagues. The article by Kessler et al. [19871 is referenced twice by the Cana- dians in their 1989 article describing the protocol of the pilot program and discussing the lifestyle patterns and psychosocial status of the first 51 persons who had enrolled in the program as of May 1988, when the manu- script was initially received by the present journal for publication [Fox et al., 19891.

statements appears to be the notion that our knowledge about family dynamics and systems theory is fairly static. Moreover, Kessler writes as if family systems concepts were a mainstream theoretical orientation when the Canadians were developing their protocols and undertaking their predictive testing program. Finally, his comments seem to make certain assump- tions about what is a normative family life cycle for family members a t risk for HD or other debilitating, life altering medical conditions. Consequently, this reading ofGssler’s letter prompts me to comment briefly on the historical background and evolution of family systems theory*

Systems theory entails “a fundamental shift from viewing the family and other life contexts in terms of patients to viewing patients in terms of their involve- ment in their significant life contexts” [Coyne and Liddle, 19921, especially their interpersonal relationships [Ransom, 19891. Historically, a large number of

“mavericks who suffered personal and professional es-

psychiatry, family medicine, social work, and psychiatric nursing], but who received their degrees and ini- tial professional training from them” [Coyne and Liddle, 19921.

Approaching “Paradigmatic Parity”: Family Systems Theory in Perspective

Utilization of family systems concepts has made a major intellectual contribution to the development of marital and family therapy [Coyne and Liddle, 19921. Moreover, training in family systems concepts is in- creasingly common in clinical psychology, psychiatry, social work, nursing, and other mental health and medical training programs [Gurman and Kniskern, 19921. However, as Kessler surely realizes, systems therapy is only now beginning to approach “paradigmatic parity with the more conventional [and individualistic] approaches to psychotherapy,” such as the psychodynamic, humanistic, behavior, and cognitive traditions [Coyne and Liddle, 19921.

As I state in my editorial, “Mamily systems theories would seem to offer a particularly productive clinical research approach since one contribution of systems theory to the mental health field has been to shift thinking about human behavior from the frame of individual causality to the perspective of human behavior as a complex interactive process” [Chapman, 1992, references omitted]. Additional support for my position can be found in the analyses by Coyne and Liddle [1992] of “The Future of Systems Therapy: Shedding Myths and Facing Opportunities” and by Gurman and Kniskern [19921 of “The Future of Marital and Family Therapy,” which appeared recently in the journal Psychotherapy’s special issue on “The Future of Psychotherapy.”

Coyne and Liddle [1992] observe that “[slystems theory is not yet associated with a large body of research” and Gurman and Kniskern [19921 comment on the lack of contributions by marital and family therapists in advancing “theory, research, and clinical practice” involving two common areas of psychiatric dysfunction-

CUSeS about all sorts of things, When you suddenly

Huntington’s disease. 1’11 have to find something

the early pioneers in systems therapy were viewed as

trangement from these disciplines [eX., PsYcholoD,

sTAs1s9 SELF IN THE AND SHAME Kessler faults the Canadian researchers particularly

for what he perceives as a failure to take into account “the phenomenon of organized systems of belief about the self in the context of families.” Implicit in Kessler’s

Ensuring Safety 707

personality disorders and anxiety disorders. At the same time, Coyne and Liddle [19921 point to the recent application of systems concepts to depression to support their assertion that “it can prove uniquely suited to integrating accumulting research concerning persons in their relational context and making this research relevant to both conventional and systemic therapists.” The work of Coyne et al. [19911 utilizing systems theory to explore the interactive relationships of a patient’s clinical depression to marital problems, spousal distress, and adjustment problems with children may suggest prom- ising avenues for researchers who are analyzing and addressing the adverse effects of predictive testing for HD. In addition, Gurman and Kniskern 119921 note the relatively recent contributions by marital and family therapists to the treatment of affective disorders-a subject which should particularly interest professionals who work with HD families. Gurman and Kniskern [19921 suggest that utilization of the “self in the system” approach may “serve as the conceptual meeting ground in the treatment of a cluster of psychiatric disorders that are already nearly universally acknowledged to involve multiple, interacting levels of ‘systems’ from physiologi- cal to intrapsychic to interactional to cultural and economic.”

Family systems theory and therapy largely developed outside of academic centers and in isolation from the resources, pressures, and intellectual forces that are necessary for the development of a research tradition [Coyne and Liddle, 19921. Systems theorists and practi- tioners have now attained “a bit of acceptance and re- spectability in the traditional disciplines” [Coyne and Liddle, 19921. Moreover, “marital and family therapy is now firmly established on the psychotherapy scene” [Gurman and Kniskern, 19921. Recently, a panel of 75 mental health experts using Delphi methodology fore- cast that psychotherapy based on systemic theory (as well as eclectic, cognitive, integrative approaches and, to a lesser extent, psychobiological, behavioral, and feminist perspectives) will likely expand in the next decade, whereas “historically oriented, comparatively passive, and long-term approaches” to psychotherapy are expected to decline [Norcross et al., 19921. To en- hance these opportunities for expansion during the next decade, Coyne and Liddle [1992] contend that systems theorists will need to “shed old myths, temper past claims, and develop a stronger role for research in the approach’s legitimation.”

In the final analysis, Coyne and Liddle [1992] assert that “[slystems theory remains an alternative to conventional wisdom rather than part of it” since “Ltlhe clinical concepts and therapeutic strategies associated with it are not yet considered part of the mainstream.” In view of this lack of a solid research tradition employ- ing systems theory, the Canadian researchers can hardly be criticized for their design of a predictive testing program that began 6 years ago.

Revision and Expansion of Family Systems Theory

One of the self-acknowledged limitations of family systems theory as originally formulated was the ten-

dency to define as typical, normative, and virtually ge- neric the basic progression experienced by middle class white couples with children through what were defined as the traditional stages of the family life cycle [Slater and Mencher, 19911. During the late 1970s and early 198Os, family systems theorists such as Carter and McGoldrick 119801 contributed significantly to the theoretical and clinical understanding of the family life cycle as consisting of defined stages, predictable stresses, and socially sanctioned rituals.

In “the definitive representation” developed by Carter and McGoldrick [19801, “all families progressed through predictable stages of family life, from mate selection as young adults through the formation of the new young family and the bearing or adoption and rearing of children, to the exit of the grown children who will, in selecting mates for themselves, start the cycle again in the next generation” [Slater and Mencher, 19911. Q p - ically, social recognition of the family unit and social validation of family growth and change served to provide developmental momentum [ Slater and Mencher, 19911. Psychological dysfunctioning was viewed as a reflection of the family’s difficulty in adjusting to normative life cycle transitions; maladaptations were most likely to erupt when the life cycle was interrupted for some reason.

What has been viewed as normative in family life transitions is now being re-examined to account for ethnic differences in family relationships and to incorpo- rate other definitions of “family” based on more realistic visions of contemporary dual career households, low income families, chemically dependent families, divorced families, single parent households, childless heterosex- ual families, and same sex households [Walters et al. 1988; Brown, 1989; Carter and McGoldrick, 1989; Im- ber-Black, 1989; Peck and Manocherian, 1989; Slater and Mencher, 19911. This revisionist and expansionist process attempts to acknowledge the ways in which norms, expectations, and patterns of dysfunction vary not just from family to family but along ethnic and other lines [Slater and Mencher, 19911.

As family systems therapists have focused increas- ingly upon issues of diversity, significant progress has been made “in tailoring family therapy theory and practice to the real world of clients, trying to avoid the identi- fication of a single norm for the family” [Slater and Mencher, 19911. The distance that some family systems theorists have traveled in less than a decade is illuminated by comparing the first edition of Carter and McGoldrick‘s The Family Life Cycle [19801 with the 1989 edition, retitled The Changing Family Life Cycle. As Slater and Mencher [1991] have noted, much of what was the content of the first edition now appears as a separate section titled “The Traditional Middle-class Family Life Cycle” [Carter and McGoldrick, 19891. The most recent edition reveals the efforts of Carter and McGoldrick to be more inclusive and to more accurately reflect contemporary family life. It includes sections on life cycle norms for divorced families, low income families, alcoholic families, and dual career families [Carter and McGoldrick, 19891.

In this decade, the opportunity would seem ideal to

708 Chapman

develop an accurate, functional delineation of normative life cycles of families who live in the shadow of “the most diabolical diseases known to man”4iseases such as Huntington’s. The “cataclysmic and shattering impact on families” is well documented; as the 1977 Commis- sion on HD wrote in the prologue:

There is almost no aspect of life which Huntington’s disease or its threat does not touch. There are no relatives of a Huntington’s disease family, close or distant, whether genetically involved or not, who can remain unaffected. [U.S. Department of Health, Education, and Welfare, 1977, vol. 1, p. xi.]

Historically, being at risk for HD potentially per- vaded virtually every significant life choice made by the offspring of HD patients. As Meissen et al. [19911 observed, “[tlhe possibility of developing HD may have an impact on every major life decision-whether to marry and have children, what career to pursue, and what financial risks to take and at what age.” When these pervasive effects are superimposed against Carter and McGddrick‘s original delineation of the typical “normative” family life cycle, the potential of HD to disrupt this “normative” life cycle is quite striking. It is easy to understand how being at risk for HD may become the overarching and defining event of an individual’s life, dramatically affecting an at-risk individual’s image of self in relation to companions, family members, friends, and coworkers. The systematic delineation of what historically has been experienced as “normative” for an HD family would surely provide insight into assessing pretest psychological vulnerability and predicting differences in coping styles of those who decide to participate in risk-altering genetic testing programs.

The medical, psychiatric, and psychological literature published during the past 25 years is also replete with references to the shame, stigma, and ostracism felt by some HD families. Mental health professionals who work with clients who either have HD or are at risk for it can surely learn from the increasing attention given in recent years to the notion of shame as the master emotion and regulator of affective life, not in the sense of the buzzword popularized by the recovery movement, but rather in the sense of shame as a core emotion in psycho- pathology [Nathanson 19871. Similarly, professionals working with HD families are likely to benefit from the efforts of Fossum and Mason [1986] to describe an inter- generationally persistent system of rules found within extended “shame-bound families-families which in- culcate in their members a sense of shame and a style of interacting with others that perpetuates the shame. A number of families described by Fossum and Mason [19861 harbored a family secret, such as suicide or financial devastation, or had histories of addiction or physical abuse. The relational approach used in systems theory may better illuminate the role that shame plays in the psychiatric disorders or adverse psychological sequelae experienced by some members of HD families.

Kessler [1988] and his work with Bloch [1989] have already contributed significantly to the appreciation of

the importance that systems factors may play in HD families. Writing in Family Process, they observed:

[I]n families in which HD occurs, individuals whose parents dealt with the diagnosis and progression of HD symptoms with courage and dignity tend to perceive the personal threat of HD with less terror and panic than persons whose parents became dys- functional and subjected them to abuse and/or mo- lestation. The perception of HD symptoms and of the consequences of the chronic illness differ in the two circumstances. Also, families able to afford a full- time nurse or companion so that the affected individual is kept a t home differ enormously from those in which, because of the lack of means, the affected person is abandoned or placed out of the home. The experience of family members in these two circumstances is so vastly different that it is as if one were dealing with a different disease entity. Economic and psychosocial factors provide the context that gives meaning to the biological aspects of HD.

Hopefully, the implementation within the US. of the Americans with Disabilities Act, various endeavors to mainstream individuals who are “differently abled” or physically or mentally limited, and efforts in the US. to craft legislative solutions to the very real need for long- term universal access to quality health care will ultimately lead to a more enlightened era, an era in which more HD families will receive both economic and soci- etal support to face this disease with courage and d i g nity until an effective treatment or cure for HD can be found.

ENSURING CONSUMER SAFETY Presentations at professional workshops and reports

published by the Canadians since undertaking the predictive testing pilot program in British Columbia in 1986 indicate that they have grappled with the chal- lenge of modifying the more traditional medical model of psychological counseling to accommodate family dynamics and systems concepts. The Canadians, as well as researchers at genetic centers in the US. with whom they collaborated, have endeavored to transcend the limitations of what was historically defined as normative in genetic counseling. Both quantitative and quali- tative data published to date suggest that predictive testing for HD can be safely accomplished in a supportive setting that features careful pre- and post-test psychosocial assessment and counseling and appropriate follow-up care. The experiences with predictive testing that have been published by these Canadian researchers, along with reports by their American coun- terparts, have contributed to the efforts of others [e.g., Falek, 1977; U.S. Department of Health, Education, and Welfare, 1977; Wexler, 1979, 1984; Kessler, 1979, 1987a,b, 19881 to understand the dynamics of coping with genetic conditions and risk status.

Kessler [1992] writes that the “unsurprising” ability of the overwhelming majority of candidates to adjust to and cope well with their predictive test results “attests to the enormous resilience, ego-strength and commit-

Ensuring Safety 709

ment to life most humans normally have and exhibit in the face of adversity.” In contrast, Brandt et al. [19891 offer this perspective:

We believe that an important part of the counseling [of candidates undergoing predictive testing for HDI is the opportunity for subjects to anticipate their possible responses to test results. This anticipation may account, in part, for the minimal emotional distress following delivery of “bad news.” The supportive relationship in which these explorations take place and the commitment of the clinical staff to caring for HD patients and their families provide a context for predictive testing that is reassuring for our patients. [Brandt et al., 19891

Thus, we must neither minimize the capacity of members of the human species to cope with adversity nor understate the importance of the context in which predictive testing has been conducted and test results have been delivered. Moreover, as Meissen et al. [19881 have cautioned: “[Tlhe long-term impacts of testing are still uncertain[;] [clontinued longitudinal research on those having both favorable and unfavorable results is important to understand better the impact of predictive testing.”

The protocols used by Canadian and American researchers have enabled them to develop data bases which provide a unique opportunity to analyze and doc- ument the psychosocial dimension of predictive testing for a severely debilitating and ultimately fatal genetic disease for which no therapy is available to delay or interrupt onset. Some of the findings by Huggins et al. [19921 do reinforce general observations about family dynamics and/or systems theory that were previously made by the 1977 Commission, Wexler, Kessler, and others, including the Canadian researchers themselves. In my view, the empirical documentation provided by the Canadians is much needed. Kessler et al. [19871 entreated:

How participants cope with the information they receive from predictive tests is an area that needs to be studied as testing programs are mounted. Such studies would not only elucidate how individuals and families cope with and adapt to major life stresses, they may also identify critical points at which timely medical and psychosocial intervention may have lifeldeath consequences.

The Canadians’ research efforts, along with the findings published by American researchers [e.g., Meissen et al., 1988; Brandt et al. 19891, seem to directly address the very request that Kessler himself made 5 years ago. Moreover, these cumulative research endeavors may ultimately influence the work of the Joint Commission on the Accreditation of Health Care Organizations (JCAHO) as it develops more definitive standards for genetic testing centers housed in facilities that it ac- credits and may potentially affect the content of future regulations governing clinical genetic testing laboratories regulated by the U S . Department of Health and

Human Services pursuant to the Clinical Laboratories Improvement Act of 1967, as amended by the Clinical Laboratory Improvement Amendments of 1988 (CLIA).

CONCLUSION We live in an era in which there are ever increasing

economic pressures to reduce the costs of medical services. As Hayden [19911 observed in an editorial in the present journal,

. . . there is the temptation and pressure for programs which are being initiated to t ry to limit their costs by diminishing follow-up care. In some sense, this is like performing an operation without providing postoperative care. If one is not able to provide appropriate follow-up support, then perhaps it is not advisable to do the operation in the first place. In the same way, this test, which has the potential for catastrophic reactions, should not be introduced into the community without appropriate supports in place for pre-test and post-test counselling and appropriate standards of care for laboratory and computerized risk analyses.

If we are to ensure the safety and welfare of participants in predictive testing programs for HD or other adult-onset diseases, then long-term assessment and documentation of the psychosocial ramifications of living with an altered genetic risk must be completed. In the final analysis, we must never lose sight of the fact that the work of these researchers is a necessary and valuable precursor to the development of clinical protocols that sensibly protect families with HD or other late- onset genetic disorders and yet afford genetically sus- ceptible individuals the opportunity to undergo predictive testing. And, as this research continues, the importance of the impact of predictive testing on the concept of the self in the system must never be minimized.

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