Positively testing

ABSTRACT

Pre-symptomatic genetic testing for late onset diseases is a modem method of conquering the ever-menacing unknown. Individuals and families at risk for hereditary illnesses are increasingly striking out into this new technology in the hopes of either ridding themselves of their worst fears or preparing for the future. Yet, being a pioneer in this powerful technology has meant that these individuals are often forced to negotiate the anxiety and stressors caused by the result on their own without the support of social work interventions. This paper will describe the personal and familial crises of five individuals who pre-symptomatically tested positive for Huntington's disease and how three specific social work interventions (individual and family counseling, peer support groups, and advocacy), could have been more helpful to these individuals and their family constellations.

Social work needs to be involved in the genetic testing process. Scientists are currently trying to identify the entire spectrum of human genes in the hopes of preventing or pre-symptomatically treating those who carry hereditary illnesses. Some diseases, such as Huntington's, breast cancer, and sickle-cell anemia, have already been identified and individuals can be genetically tested for each. As such, throughout America individuals are receiving positive pre-symptomatic test results for fatal genetic illnesses, yet social work interventions are generally not being used to enhance and support their experiences. Testing centers have developed team testing programs which have incorporated neurologists, psychiatrists, psychologists, genetic counselors, researchers, and nurses, but rarely social workers. Little consideration has been given by the testing centers to the special biopsychosocial perspective that social workers can bring to these testing programs. Likewise social work has not made any significant attempt to address the needs of this population through educating itself about the unique issues of this community and advocating for its inclusion in the process.

This paper will describe the experiences of five individuals who received positive pre-symptomatic test results for Huntington's disease (HD), a fatal hereditary neuromuscular disease. Participants were initially solicited from the two HD clinics in the New York metropolitan area, however, all came forward only after chance meetings with the author. The experiences of these individuals will be used to illustrate how particular social work interventions could have been or were useful to the participant. The aim of this paper is to impress upon social workers and social work educators their ethical responsibility to finally address the needs of this growing population.

Disease Definition and History Leading to Predictive Testing

HD is characterized by chorea-like movements of the extremities, i.e., a lurching walk, slurred speech, significant loss of weight, psychiatric disturbances, and progressive dementia. The mean age of onset ranges from thirty-three to fifty-one years, and life expectancy after on-set of symptoms is ten to twenty years. Once physical and cognitive symptoms begin, the disease is irreversible. There is no known cure for the disease.

The first description of HD was developed by George Huntington more than one hundred years ago. By 1976, HD was described as a hereditary neuromuscular disorder with gradually increasing brain cell death in the basal ganglia that eventually forces the individual to be dependent on others. Death for such patients comes from complications such as choking, pneumonia, heart failure, or infection rather than as a result of the disease itself.

Children of those with the disease are categorized as "at risk" because the gene travels from generation to generation in an autosomal dominant mode. This means that the gene is always dominant if inherited. Each child has a 50% risk of inheriting the gene from his/her affected parent and becoming affected him/herself. The psychological burden of being at risk is marked by familial and personal instability, lack of control, and the feeling that there is no way to escape fate (Wexler, 1985, p. 281).

Since the late 1970s, doctors and researchers have debated the ethics of pre-symptomatic testing for genetic illnesses. In the case of HD, authors have contemplated the probable mental anguish and suicide of an individual whose life and hope have been taken away by a gene-positive result. Yet, within the HD at-risk population, there was an overwhelming desire to have a simple and accurate test available. This desire was largely in an attempt to combat the psychological conditions of being at risk by obtaining control of the unknown.

The first research testing programs in the United States and Canada began testing at-risk individuals for the disease in 1986. Six years later, in 1993, the actual gene was found making the testing process easier and more accurate. Although many of those being tested were already symptomatic for the disease, quite a few were not yet showing signs of the disease and were instead pre-symptomatic.

In 1994, The American Society of Human Genetics was concerned that in a rush to provide the individual at risk with their genetic information and to be involved with the latest technology, many testing centers might underestimate the scope and depth of the issues that testing will elucidate. Such issues included family concerns, laboratory complexities, and ethical dilemmas. Furthermore, a distinct characteristic of pre-symptomatic testing for HD is its preventive or therapeutic goal, in contrast with the simpler reproductive choices posed by most other genetic testing (Motulsky, 1994, p. 607). Many authors have suggested that, in the case of the individual being pre-symptomatically tested for HD, a counselor's help should be provided to make realistic preparations for life in an attempt to maintain the client's delicate balance of optimism and practicality. The social worker's positive and supportive attention is also important in promoting the individual's feelings of being accepted and understood.

Review of Related Literature

Very little has been written in the social work literature about the profession's involvement in working with people around the issue of pre-symptomatic genetic testing for late onset diseases. This lack of content is an indication of social work's neglect of these clients and this area.

Differing Role of Social Work and Genetic Counseling

Social workers and genetic counselors have distinct orientations and approaches. Social workers work toward simultaneously negotiating the client's immediate psychological crisis, their current environmental considerations, and background. Genetic counselors primarily focus on transmitting factual genetic information. In fact, "most genetic services are diagnostic in nature" (Schild & Black, 1984, p. 17). Wolff and Jung (1995) described the role of the genetic counselor as similar to that of other medical professionals who follow "the beneficence principle" (helping curing), as a guide to working with their clients. Genetic counselors "find themselves faced with the problem of defining the purpose of their intervention and the well-being of their patients and the clients for whom they could justify a possibly directive influence" (Wolff & Jung, p. 8).

Clients who go through the process of pre-symptomatic genetic testing, especially those being tested for a life-threatening illness, often feel overwhelmed and may even be immobilized by their raging emotions. Because of this, they "need time to share their concerns, to articulate feelings in a trusting milieu, to learn new ways to master their troubles, and to obtain and identify needed services" (Schild & Black, p. 66). Yet in testing for HD, only a brief number of counseling sessions are offered and, as they are often only available during the time of actual testing, the client is often unable to adequately imagine the consequences of a positive or negative result to themselves or their families. For example, one participant described her pre-symptomatic HD-testing experience in this way:

The counselor asked me over and over again how I thought my family would feel, and / just kept saying, -Oh, they'll be supportive. - I was not in therapy and so I did not get her question. On the day that I got my results my father accompanied my husband and me and was in the room when the doctor gave us the news. It was only in the split second before she spoke that I realized I'd never really considered how a positive result would effect my father I'd taken the rest of the week off from work, but he had to go in the next day and he had to drive us home that afternoon from Baltimore. I still don't know how he did that Interview 4/1/97

A social worker could help such a client because of the profession's understanding of defenses as a method of protecting oneself from issues that one is unable to deal with directly. With this woman, for instance, it is likely that a social worker would have helped the client realize how she imagined her family would be supportive of her and, through putting herself in her family members' positions, she might have been enabled to think through what her positive result would actually mean for each of them.

Differing Roles of Other Social Science Professions

Psychiatrists, psychologists, and nurses have expertise not generally provided by social workers. Psychiatrists and nurses address the changing biological make-up of the individual through dispensing and monitoring medication which is important as the gene positive individual eventually develops symptoms of the disease. Psychologists utilize a research approach to the problems of human behavior including the helpfulness, or not, of the testing process that form the growing base of information for working with this population. Very often these skills are bound together in a team approach to enhance the effectiveness of each program. However, without social work's inclusion in this team their expertise falls short of servicing the clients.

Social work is the only mental health profession that considers the impact of both the psychological and social aspects of a family's history of HD on the individual being tested. The individual is treated as a holon in social work, "a whole - a unit unto itself - a part of a whole, both at the same time" (Longres, 1995, p. 46). In this way, social work considers persons in their environment while developing individualized treatment plans and goals with each client. As such, the social work profession holds up the values of the individual's free choice. In 1991, The International Federation of Social Workers drafted a policy on strategies for responding to the HIV epidemic which noted that:

. . . social workers, by virtue of their training, their particular perspective of the individual within the family and community constellation, together with the wide range of social work employment in health and welfare settings, are uniquely well placed to play a very effective role in the global effort to deal with the HIV epidemic and empowerment of those affected. (National Center on Social Policy and Practice, 1991, p. 19)

Social work's effectiveness in working with clients around presymptomatic testing has been demonstrated in the central role it has played in HIV testing. Testing positive for HIV is very similar to pre-symptomatically testing positive for HD. Individuals who test positive for HIV have often watched someone close to them degenerate, both cognitively and physically, into someone who is almost unrecognizable. When diagnosed, the HIV-positive individual may live from ten to more than twenty years before AIDS overwhelms them. This is similar to those who test positive for HD. When they develop, both HIV and the Huntington's gene, lead to a certain debilitated condition and ultimately death.

These similarities suggest that the direct practice methods used by social service and medical agencies when working with the HIV population can be used for developing social work practice with all pre-symptomatic individuals, including those who have tested positive for HD. Social work services that would be most helpful to those who test positive for HD are in three areas: individual and family counseling; peer support groups; and advocacy.

Social Work Services

Individual and Family Counseling

Individual and family counseling are services of paramount importance to people who presymptomatically test positive for HD. Therapy can address several issues: (1) enhancement of coping skills through gaining control of their mental, physical, and social domains; (2) grief around multiple losses in social or familial networks; and (3) guardianship planning for children (Taylor-Brown, 1995, pp. 1297-1298).

At present, most testing centers do not include social workers, and, as a result, doctors are forced to "wait and see" how someone responds to the testing process before making a decision not to give unstable clients their results. This is unfortunate because by this time the individual has invested a lot of time and effort in the testing process. A major social work alternative would be that all clients would complete a psychosocial assessment upon entering a testing program. A thorough social work assessment could help to identify those participants who might be too emotionally unstable or who might not have a strong support network early in the testing process so that the center could then link these clients to services that would support them throughout. As one person who tested positive for the HD gene stated:

It is unfair for the testing center to refuse to give an individual their results. Instead they should link delicate clients up with services to support a gene positive result [Interview 3/29/97]

Often, those who test positive receive no outside social services support during their testing experience. Frequently, they themselves do not consider it a necessary ingredient of the process at the time. As one person stated:

I'd never been to a therapist before, and I just didn't know what to expect but when I met the center's psychologist I got turned off to the whole thing. He was a jerk and spent no time with me. I expected him to ask questions about things. By the time I left there, he still didn't know anything about me and I didn't know what to say. This surprised me because the testing center was supposedly so big on the psychological aspect of the disease. I found him to be so ineffective that I didn't even want him to be present when I received my results. The testing center never even checked to see if I'd hooked up with someone. If it didn't matter to them, it didn't matter to me. (Interview 1/25/97)

Frequently, without the help to do so, persons who undergo HD testing are unable to locate a therapist who is knowledgeable about HD and genetic testing. This is illustrated by one person who stated:

When the [genetic testing]program suggested that I identify a therapist, I asked if they could give me a referral to someone near my home in New York but they said that they didn't have a list and didn't know how I could find someone. So I went through the Yellow Pages and found a lady that I met with once. She seemed very nice but she didn't know anything about the disease or testing so that, in the middle of my crisis I would have to teach her about everything. I figured why bother - I have a good husband, a good family, and good friends / can talk with them. Well, getting a positive result completely changed my life, and it took me more than one year to realize that I needed professional help adjusting. [Interview 4/1/97]

A second person and her non-- HD educated therapist underestimated her SO% risk for inheriting the gene. Thus, she and her therapist never really dealt with the possible consequences of a positive result for her. Her weak support network was not assisted and there were no groups for people in the process of being tested for her to attend. Instead, on the day that she received her positive result, her therapist was on vacation and, as this individual was unable to contain her feelings of rage and grief, she was forced to stay in a mental hospital for one week until her therapist returned. Four years later, after a prolonged depression, loss of her job and her family relationships, this participant committed suicide.

In these situations, a social worker could have intervened by identifying and training therapists around the issues that are unique to this population, which would include the disease itself. Also, social work's case management would have assessed the needs of each client, developed care plans tailored to each assessment, and conducted regular follow-up monitoring to ensure that the clients were continuing to receive services and finding them helpful. Predictive testing is not an individual matter. Rather, the whole family experiences the effects of testing while changes occur in the biological, psychological, and social functioning of its members. In their study of the effects of predictive testing on intimate relationships, Quaid and Wesson (1995) discovered that immediately after testing the unaffected partner's stress level appears to stabilize. They hypothesized that this initial lack of symptoms may be due to the partner's tendency to focus on the gene carrier and deny or neglect his/her own distress for fear of seeming disloyal (p. 47). The experience of one HD client confirms this:

One night, a long time after I got my results, my husband was laying in bed, and he said he just didn't feel right After a little while, he began to cry. Maybe the news had just settled in for him. He didn't feel good for about a week - he was grouchy and short tempered and I thought that he was depressed, but we never talked about why. / just kinda knew it was about my HD. [interview, 1/25/97]

Given the impact on the couple, social work could address both the affected and unaffected partner's feelings about testing through both couples and individual sessions. In these sessions each could voice his/her reasons for and concerns about being tested in a nonjudgmental environment. An example of this was one person's experience:

We had seen our counselor in the past and so she knew my whole family history. We thought it would be good for us to continue to see her as a couple while we went through the process. Both the social worker and genetics counselor helped us by pointing out things that we should watch for and consider. With our counselor's help we learned how to educate and get support from our whole family. It took some doing to get through all of the denial and stuff but If eel confident that we have their support now. didn't want to receive a positive result but If eel positive about it and I'm sure it's because of the help that we were able to get . . .

. . It was very important to me that the counselor my wife and I saw knew about my family history and about the disease. She was able to empathize with me and talk to me in a way that I could understand. (Interview 1/19/97]

Because HD is a familial disease, many people being tested have close and extended family members who are also at risk for the disease. In one case, this status made it difficult for family members to be supportive of the recently identified gene carrier:

I am very close with one of my sisters, but when I started to go through testing, she tried to talk me out of it She was in the end, very supportive but I think that she was afraid of what this would mean for all of us.. .

. . . My [unaffected]father was a complete asshole throughout the six-month process. He was furious with me for wanting to know. Even on the day that I received my results, he backed out of going with me and my husband. This especially hurt because we'd just rebuilt our relationship into something positive. Six months later, he finally admitted that he was upset with himself for not being able to give me the good gene. It's a year-and-one-half later, and I still have not been able to forgive him for not being there when I needed him. [Interview 3/29/97]

Social work could have intervened in this situation with family sessions in which family members could have discussed their concerns about the process and their availability to the member being tested. Individual sessions with the participant could have also focused on her historical family supports and could have helped the participant negotiate realistic expectations for her present needs.

Peer Support Groups

Generally, peer support groups provided in health care settings are based on the nature of difficulties facing patients and their families. These difficulties are combined with the fact that group dynamics are "very well suited to meeting the needs of people whose normal interpersonal relationships have been disrupted by illness or disability or whose premorbid problems in relationships have aggravated the illness or handicap" (Northen, 1988, p. 110). Such individuals often suffer from low self-esteem, anxiety, depression, hopelessness, a sense of loss, discrimination, and superstitious fears which can all be countered in groups of their peers.

In the HD community at large, people can meet with their peers to learn how others are coping and to gain confidence in their own abilities to be supportive in a safe environment. Because of the geographic location of the testing centers, many clients are often unable to attend groups composed only of those who have tested positive for HD. Instead, they can attend local groups that are more general and include those at risk, caregivers, or even symptomatic individuals. Such groups have limitations because the pre-symptomatic gene-positive person may, for example, be uncomfortable discussing his fears about his physical appearance once the disease manifests itself in front of those who are already symptomatic. As one participant stated:

When I learned four years ago that my mom had HD there were no support groups or even a chapter in my state. So we started one, but it was for HD families, not those who tested positive, and that's just not someplace that I can be most honest about my status and feelings. For example, no one there even knows that I've been tested

. . My testing center recently notified me that they were starting quarterly meetings but I live out of state so that was a long way to travel to sit with one other person. Maybe it's bigger now but I have so many responsibilities here that it's really a struggle. But I do get something positive out of talking with people who've been there and understand. Interview 3/29/97]

Another participant said:

I've spent the last year In an at-risk group and it helped me immensely. I gained self-confidence and insight while in the group mostly because everyone understood my feelings toward my mom who has the disease. But most of the members really can't understand my issues around testing. I'm much more direct and tough since getting my results and I think that sometimes they don't understand my impatience. I've met a lot of other people who've been tested and they've understood. I think I really would have liked talking to them while going through the process so that I could have leamed from their experiences. [interview 4/1/97]

As more people are pre-symptomatically tested each year, constituencies for local groups will develop. Social work groups would be beneficial for people who have tested positive as well as for their families. In social work, groups such as these would aid members by giving them a forum to frankly discuss their feelings about their gene status without fear of hurting someone else. Also, group members would learn to recognize their strengths both as a group and as individuals through the support that they give to each other

Advocacy

The HD community in general, and particularly people who test positive for HD, need social work's help in advocating for improvement in the societal and professional responses to their plight (Taylor-- Brown, 1995, p. 1298). Advocacy efforts need to be directed toward protecting genetic privacy, fighting discrimination (especially in employment, insurance, and housing), and allowing the individual to use their insurance to pay for testing related services (i.e., therapy), without fear of losing coverage. Advocacy efforts need to assure that ethics will finally catch up with, and therefore work in concert with, the technological advances in medicine. Furthermore, in regard to HD in general, each of those who were interviewed stated that they feel it is necessary to advocate around increasing HD name recognition. Unlike other diseases, HD is not recognized by the general public and because of that, the participants in this study said that they have often felt alienated from society.

I am ten years younger than my family's age-of-onset, and yet I was denied disability insurance because my doctor, who is a friend, acidentally released my positive results to the insurance carrier even though I told him my result as a friend and paid for the test myself. For those ten, or maybe even 15 or 20 years, I would have been a steady paying client and would have some security Now I don't know what we'll do. I pray to God I don't end up like my aunt in a state hospital, with a doctor who doesn't even know the correct name of the disease. [Interview 1/25/97]

Another person stated:

I just want people to have a basic awareness of the disease. Maybe then they'll have some sympathy for my mom and eventually me. The idea of not being understood when I will be the least able to communicate frightens me. (Interview 4/l/97J

Through helping people who have tested positive but are presymptomatic advocates for themselves, social work could help these clients retain hope and selfesteem particularly because treatment and the eradication of HD grows closer every day.

Conclusion and Implications

It is imperative that social work administer to the unique biopsychosocial needs of the Huntington's disease gene-positive, but pre-symptomatic population. With the addition of social work to team testing programs, interventions such as those used in the HIV positive community will undoubtedly be beneficial to the HD community. The biological, psychological, and social issues that this group faces are overwhelming, and social work is the only profession suited to juggling these concerns. Genetic counseling does a good job of providing people with factual information about hereditary illnesses. However, without the additional therapeutic support of social work, much of the information is lost on clients who are unable to focus due to rampant anxiety and stress.

Yet therapy alone is not enough. To effectively help clients negotiate their gene positive status, it is essential that testing centers develop case management for each client that would structure interventions, such as peer support groups or family counseling, to the client's needs. It is also important that advocacy be included in the help that is offered to these clients, because through their advocacy efforts they gain hope for the future.

The social work profession has a responsibility to provide HD gene-positive individuals with care. As the entire human genome is presently being identified by scientists, it is possible that soon almost everyone will discover that they have been programmed for a genetic disorder. The social work profession cannot ignore these advances and should, instead, be in the forefront of advocating and providing treatment to these communities. It is essential that the HD gene-positive population receive coordinated, trained, and durable support from the social work profession now.

References

Almqvist, E. (1996). Molecular genetic studies on Huntington disease. Stockholm: Karolinska Institute. Hamilton, G. (1996). Editorial. The search. The Greater NY/LI Chapter of the Huntington's Disease Society of America, Spring 1996.

Hamilton, G. (1992). Left wondering. The marker. The Huntington's Disease Society of America, Spring 1992. International Huntington's Disease Association and the World Federation of Neurology Research Group on Huntington's Chorea. (1994). Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology, 44, 1533-1536. New York: Lancet Publications.

Longres, J. E (1995). Human behavior in the social environment (2nd Ed.). Illinois: E E. Peacock Publishers, Inc. Macklin, R. (1997). Moral issues in human genetics: Counseling or control? Dialogue, 16(3). Canada: Canadian Philosophical Review.

Miller, E. (1994). The social work component in community-based action on behalf of victims of Huntington's disease. Social Work in Health Care,

2(1). New York: Haworth Press. Motulsky, A. G. (1994) Invited editorial: Predictive genetics diagnosis. American Journal of Human Genetics, 55, 603-605. Chicago: University of Chicago Press.

National Center on Social Policy and Practice. (1991). Beyond medicine: The social work response to the growing challenges of AIDS. Washington, DC: National Association of Social Workers.

Northen, H. (1988). Social work with groups. New York: Columbia University Press.

Phipps, E. J., & Lazzarini, A. (1987). Fighting dragons: The construction of explanatory systems in genetic disease. Family Systems Medicine, 5. London: FSM, Inc.

Quaid, K. A., & Wesson, M. K. (1995). Exploration of the effects of predictive testing for Huntington's disease on intimate relationships. American Journal of Medical Genetics, 57, 46S1. Indiana: Wiley-Liss, Inc. Schild, S., & Black, R. B. (1984). Social work and genetics: A guide for practice? New York: The Haworth Press.

Taylor-Brown, S. (1995). HIV/AIDS: Direct practice. Encyclopedia of social work (19th Ed.). Washington, DC: National Association of Social Workers. Wexler, A. (1995). Mapping Fate. New

York: Times Books, 1995. Wexler, N. (1985). Genetic jeopardy and the new clairvoyance. Progress in medical genetics. Praeger: Philadelphia.

Wexler, N. (1989). The oracle of DNA. Social policy and molecular genetics of neuromuscular disease. London: Oxford University Press. Wolff, G., & Jung, C. (1995). Nondirectiveness and genetic counseling. Journal of Genetic Counseling, 4(1). New York: Human Sciences Press.

Gabrielle Hamilton is current president of The Greater New York/Long Island Chapter of the Huntington's Disease Society of America and winner of the 1997 Goldfein Award from Hunter College, 102-30 67th Avenue, #7U, Forest Hills, NY 11375.

Original manuscript received: March 21,1998 Accepted: August 5,1998

Copyright Family Service America Nov/Dec 1998
Provided by ProQuest Information and Learning Company. All rights Reserved