115CHAPTER 5

Prevention, Genetic Testing, and Treatment of Genetic Disease

William G. Danchanko and Christine E. Kasper

In regard to genetic disorders, prevention is the ideal goal. If total prevention is not possible, the effects of morbidity and mortality, as well as the burden on the family and community, may be reduced. There are various ways of achieving this but, to date, prevention is not always possible. Treatment is also a way to prevent some of the morbidity and mortality engendered by genetic disease. This chapter reviews prevention, including genetic counseling. Genetic testing for diagnosis as opposed to screening is discussed, followed by treatment of genetic disease.

PREVENTION

Methods of prevention begin with education of the public and health care professionals and identification of those at risk, and are listed as follows:

Major preventive measures include genetic testing and screening followed by genetic counseling (discussed in the following subsection). An area of prevention includes surveillance and prophylaxis after diagnosis with, for example, a mutant gene that confers susceptibility to cancer. Examples include BRCA1 and BRCA2 mutations that confer a susceptibility to breast cancer (discussed in Chapter 11) and the APC gene mutation conferring susceptibility to colon cancer. In the breast cancer examples, if the person possesses the gene mutation that indicates he or she has increased susceptibility, he or she can embark on a program of surveillance.

Genetic Counseling

In response to increased demand for genetic counseling and the realization that little was known about the best ways to offer such services, a committee of the National Society of Genetic Counselors developed the definition shown in Box 5.1. Genetic counseling is provided primarily for single gene conditions. The advent of genomic testing for complex conditions has led to an expansion of traditional genetic counseling to a new “genomic counseling” to include whole-exome sequencing (WES) and whole-genome sequencing (WGS).

Genetic services are often offered by a team of professionals that may include any of the following as core individuals: physician, geneticist, genetic counselor, genetic associate, nurse, nurse practitioner, social worker, psychologist, or pastoral counselor. Any persons with the referral indications given in Chapter 7 are candidates for genetic counseling referral. Those persons most commonly referred for genetic counseling are the following:

The person who is seeking genetic counseling may be called the counselee or consultand. The term proband or propositus refers to the index case or to the person who first brought the family to the attention of the geneticist, for example, the affected child. In practice, the actual counselee may be more than one person—for example, mother, father, and child. Genetic counseling is also offered in conjunction with testing and screening programs and for those considering adoption or various reproductive technologies. About 90% of those who should be so referred are not. Indications that nurses can use as guides for referral are given in Chapter 7. If a formal referral is initiated, the counselees should bring all relevant records, family data, and even photographs with them or send this material before their first appointment. The genetic counselor should be notified of the referral by phone, letter, or secure electronic means. The nurse or the referring professional should also check with the counselee to see that follow-through has occurred.

Some clients are very self-directed and motivated to seek counseling. Others may be there because “the doctor told me I should come.” Elements of the Health Belief Model are relevant here in that the client must perceive that a serious situation exists, there is some personal vulnerability, and the benefits derived from the indicated action will outweigh the barriers or risks. Other factors, such as denial and guilt, are also operative.

118Because many emotions are involved in a genetic disorder, it is not always helpful to provide genetic counseling immediately after the birth of an affected child or the unexpected diagnosis of a genetic disease in an adult. These events can precipitate a family crisis. Genetic disease is often perceived as permanent and untreatable. Shock followed by denial often is the first part of the coping process. When counselees are seen in this phase, which may be present 3 to 6 months after the crisis, they do not know what they want to know, and they may not hear what is said to them. Anxiety and anger follow, and this may be directed outward as hostility or inward as guilt. At this point, the counselee may be ready to intellectually understand and adjust only on an intellectual level. Depression occurs next, and if the counselee can achieve behavioral adjustment, successful accommodation can occur. Obviously, counselees may cycle between phases. Covert anger and avoidance behavior may lead to clients’ canceling, not keeping, or arriving late for their appointments. Those who do not understand the basis for this behavior may demonstrate annoyance and hostility toward the client, which will act to negate efforts to establish a good client–counselor relationship.

An initial early interview can be used to assess the degree of negative feelings and to use intervention techniques or provide support services for ongoing counseling if it appears indicated. Usually a family history can be obtained and may provide the clients with the feeling that they are taking some positive action. Documentation of findings should be shared with the individual and family as appropriate. A second appointment is then scheduled.

Components of Genetic Counseling

As the setting, the professionals providing services, and the reasons for seeking counseling vary, so too does the counseling process. Nevertheless, all genetic counseling has some common elements. The usual components of the genetic counseling process are shown in Table 5.1. Their application and sequence also vary because the geneticist does not always know what additional information is needed until after the assessment process, the interview, and the histories are completed (e.g., chromosome analysis may need to be done, past records obtained, an illness in another family member confirmed). Usually there is more than one session anticipated, with information gathered and a relationship established first, and plans made to collect other needed data on which to formulate diagnoses or recurrence risks.

It is imperative to establish a baseline level of understanding that each counselee brings to the discussion. At the most basic level, focusing on whether or not the distinction between a somatic mutation and a germline mutation can be made by the counselee will provide clarity between nonheritable versus heritable diseases. For example, in the practice of oncology, genetic changes are common in cancer cells. These malignant cells often exhibit aneuploidy as well as translocations that are found only within the tumor cells. Genetic errors that arise from specific cell lines are somatic mutations. In contrast, if aneuploidy or mutation occurs during meiosis, then genetic changes will be present in every cell. Meiosis is the process of cell division in reproductive cells (i.e., eggs and sperm). An example of a germline mutation is trisomy 21 or Klinefelter syndrome. Somatic mutations are not a part of the reproductive cells and therefore cannot be transmitted to offspring, whereas germline mutations may be transmitted.

Note: Order may vary depending on the reason for the initial referral. Psychosocial support should be provided throughout the process. All explanations should be culturally appropriate for counselees and appropriate to their educational level.

Obtaining a History and Preparing a Pedigree

Recently there has been increased attention in the health care community regarding the importance of the family history over three generations. Most information 120regarding the taking of the history is discussed in Chapter 7. There are, however, some points that should be considered here. The taking of the family history also gives the counselor a chance to observe family interactions, and it can provide clues for effective approaches when discussing risks and options. It is very helpful to have both members of a couple present when the history is taken because one person rarely has the precise information necessary about both sides of the family or, if they have attempted to gather it beforehand, they may not have asked the relevant questions indicated by the suspected genetic disorder (e.g., in neurofibromatosis 1 in the family, it may be helpful to know if axillary freckling is present in any relatives who cannot be personally examined). If all agree, it may be helpful to have an older relative present for part of the information gathering because that person may have detailed information about the family. Taking the history is time consuming because one cannot just ask a general question such as: “Does anyone in your family have a birth defect, intellectual disability, or genetic disease?” The concepts of disease, disability, and retardation may be culturally defined. Many counselees do not know what constitutes a genetic disease, and they may not equate “slowness” with intellectual disability. Thus, questions must be specifically tailored for the individuals, at their level of understanding, and within their sociocultural context. The history taking must result in the preparation of a pedigree, which may be helpful in determining the mode of transmission operating in a given family, even in the absence of a definite diagnosis that will allow a basis for counseling (see Chapter 7).

Anyone who has done such a history is aware of some of the problems and pitfalls that may be encountered. An issue for one couple who came for counseling was whether the disorder, which had incomplete penetrance, was a sporadic event or was caused by an autosomal dominant gene in that family. “I was told that Aunt Mary had something wrong with her. She was never allowed to marry, and they mostly kept her in her room.” This could or could not be relevant to the situation at hand and needed to be further explored and documented. Sometimes this is difficult because people are reluctant to talk about defects and intellectual disability in their families. In recent times, families are less likely to be colocated with their extended families and may not be aware of the health status or history of family members. Difficulty in obtaining complete histories may also be impossible where the family migrated to new countries prior to the advent of modern communications and lost contact with the family of origin.

Often additional family information needs to be obtained and sent to the counselor. Some families do not wish to let other members know that they are seeking counseling, and this greatly complicates obtaining accurate information. A negative family history can have several meanings. If a couple has come for counseling, it is important to talk to the mother alone at some point in the interview. In such privacy, it is possible to ascertain, for example, situations involving the possibility of nonpaternity of the present mate, of sperm donation, or of adoption that has not yet been revealed to the child who may be accompanying his or her parents. Thus, a negative family history may mean that this mutation is sporadic or new or may be due to other reasons (see Chapter 7 for a complete list), including failure of the interviewer to ask the critical questions or conduct a thorough assessment or the withholding of information by the client.

121Another sensitive area is that of consanguinity. By asking the names of all the relatives in the family history, the counselor can inquire further about those with the same last name on both sides of the family. Another way to ascertain this is by determining where both families have lived at various points in time, what their ethnic origin is, and what other countries the family originated from. Occasionally couples who did not realize they were related discover that they indeed have a common ancestor. A counselee whose child had Ellis–van Creveld syndrome (dwarfism with polydactyly and heart disease, which is common in the Pennsylvania Dutch) turned out to be married to a cousin. Both had Pennsylvania Dutch ancestors. The counselor can also lead into the subject by asking if there is any chance at all that the two partners are related. I have had several genetic counseling clients who were contemplating cousin marriages. Myths abound about such matings, particularly those between first cousins. One client reported that he had been told by a health professional that all of their children would be “crazy or retarded.” In fact, the risks are associated with the chance of bringing together the same recessive gene possessed by each one of them in their offspring. If no known genetic disease exists in the family and the persons do not belong to an ethnic group with a genetic disease that is above the usual population frequency, then the risk for homozygosity at a gene locus is 1/16 for first cousins. In the absence of a positive family history and under good economic conditions, empirical risk estimates for a genetic disease, malformation, or early mortality among the offspring of first cousin marriages are about 3% to 4% over the general population risk. For first cousins once removed and second cousins, the observed risk is about 1% to 1.5% over that of the general population. An uncle–niece mating would carry about a 10% risk. Individuals may be related to one another in more than one way. However, there can be risk when persistent intermarriage within isolated populations occurs over time. This is also known as inbreeding and can result in homozygosity, leading to a decreased biological fitness of a population or inbreeding depression. One prominent example is the persistent intermarriage of the Spanish Habsburg dynasty (1516–1700) who frequently over 300 years married close relatives. Another example is found in the population of the Faroe Islands in the North Atlantic Sea between Norway and Iceland. Because of the isolation, residents have been intermarrying for centuries, creating a highly endogamous population resulting in a high incidence of a number of genetically transmitted diseases. Ashkenazi Jews have also historically been an endogamous population due to geographic and cultural isolation and have an increased risk of certain genetic diseases such as Tay–Sachs.

Confusion about exact familial relationships is common to many people. Accurate risk estimates cannot be made unless the correct relationship is known, and so it may be up to the nurse to clarify it. For example, “first cousins once removed” refers to the relationship between the grandchild of one sibling and the child of another sibling, whereas “second cousins” refers to the relationship between the grandchildren of two siblings.

Incest in the legal sense refers to mating between related individuals who cannot be legally married; in the genetic sense, it refers to mating between persons more closely related by blood than double first cousins (those who have both sets of grandparents in common). All states prohibit parent–child, grandparent–grandchild, 122and brother–sister marriages, and the vast majority prohibits uncle–niece and aunt–nephew marriages. The most frequent form of genetic incest is father–daughter, followed by brother–sister. The degree of genetic risk for an infant born of an incestuous mating between first-degree relatives is an important concern to adoption agencies and prospective adoptive parents. The risk is approximately one third for serious abnormality or early death, with an added risk of intellectual disability. Most abnormalities become evident within the first year of life, and a reasonable suggestion is that the finalization of adoption wait until this time. It is suggested that there is a thorough collection of family, genetic, and medical history for children entering the adoption process.

Deaths of siblings or stillbirths should be pursued. A parent may initially say that a child died of heart disease and not think it relevant to mention that the child had Holt–Oram syndrome. It is particularly important, especially in the case of parents who have had a child with a visible malformation, that in concluding the history of the pregnancy, the counselor raise issues that the couple may otherwise leave unspoken but not necessarily unthought, such as, “Many times, parents who have had a baby with anencephaly feel that some event in their pregnancy [like a long car trip taken against advice] caused or contributed to it.” It is important to get them to verbalize any feelings on this issue so that they can be dealt with. The clients may feel that they are being punished for an indiscretion or sin that is real or imagined. They may, aloud or silently, ask, “Why me? What did I do to be punished like this?” In many cultures (e.g., Italian and other Mediterranean, some African, Middle Eastern, Caribbean, and Latin), there may be the belief that the malformation was the result of a curse or of the “evil eye” (el mal ojo). Thus, the counselor must adjust the tone and content of the counseling toward the cultural group of the counselee. It is also important to know how the culture views not only the occurrence of a genetic condition but also beliefs about healing and the body. Who are the authority figures in the culture? How can they be included in facilitating adjustment? What is the decision-making power of the individual and couple, or are there others who will have a major influence? What are the concepts of privacy and stigma or shame in this culture? The occurrence of a genetic disorder can also be used to accentuate family difficulties that may have been latently present before the event, such as, “I told you not to marry her; her family is no good.” The history taking can be concluded by asking, “Is there anything else you think I should know about you or your family or that you would like to tell me?” It is not infrequent that even after a long initial counseling session, a counselee has telephoned to supply information that he or she “forgot” to tell me and that turns out to be quite relevant.

Establishing a Diagnosis

The family history is a first step in the establishment of a diagnosis if it has not been made before the client seeks genetic counseling. Diagnoses should be confirmed where possible. When no diagnosis has been established, then one of the roles of the geneticist is to recommend appropriate testing in order that one can be made. This may include chromosome analysis, molecular testing, or biochemical testing that is appropriate to the possible disorder, symptomatology, or ethnic group of the counselee; x-ray films; skin or muscle biopsy; electromyography; or others. 123If genomic association studies are conducted, it is possible that these methods may produce findings of likely medical significance unrelated to the primary indication for testing. The American College of Medical Genetics and Genomics has published recommendations about reporting incidental findings in the exons of certain genes and has published a list of “Actionable, Pathogenic Incidental Findings.” Carrier status should be established if it is relevant and possible. If the syndrome is unknown, then referral to specialists or the National Institutes of Health (NIH) Undiagnosed Diseases Program may be indicated. Ideally, photographs, laboratory records, histories, physical examination data, and genomic array data should be recorded in an electronic medical records system to facilitate the comprehensive analysis and storage of large amounts of data, as well as the ability to share the data with other involved clinicians. Sometimes the establishment of a diagnosis is not possible. The affected person may be deceased, and essential information or autopsy results were not obtained, all testing and examination results are inconclusive, or a syndrome may not have been previously identified. This indicates why the nurse needs to be sufficiently alert to obtain pictures, specialized measurements, and tissue specimens in cases of spontaneous abortions and stillbirths.

The genetic counselor should know his or her limitations in diagnosis and be able to provide referral to get answers. For example, the client’s eyes may need examination by an expert in ophthalmology. The affected persons should be carefully examined if feasible. Family members who are at a risk for the disorder should be meticulously examined, especially when they are asymptomatic, in order to detect minimal signs of disease. An example is the case of a 30-year-old man who was at risk for facioscapulohumeral muscular dystrophy 1A (an autosomal dominant disorder with muscle weakness and retinal anomalies) and showed no obvious symptoms of muscle dysfunction. But when a neurologist examined him, he was found to have a “forme fruste” or minimal manifestation of the disorder, a finding that considerably changed the risk for his transmitting the gene. This diagnosis can be confirmed by targeted genetic testing of a characteristic 4q35 deletion, which is more than 90% specific for the disease.

Sometimes despite the best of efforts and for a variety of reasons, no diagnosis can be established. In one case a woman in her mid-20s was contemplating having children. She had a 22-year-old brother who had a muscle disorder, and she sought counseling to determine the risk of one of her children having the disorder. Her brother’s diagnosis had been made years before, when all muscle weaknesses of that variety were lumped into a single category and named accordingly. In more recent years, they had been found to be heterogeneous and transmitted by different modes of inheritance. Her brother was severely physically incapacitated but unaffected as far as intelligence was concerned; he had graduated from college. The counselor suggested that he be rediagnosed in order to accurately determine her risk, as the family history was unhelpful in this regard. The counselee felt very strongly that she did not want him to know she was concerned about a child of hers having the disorder, but after all the years she had watched him grow and develop, she felt that she could not assume this responsibility with her own child. She therefore refused any communication with him in regard to diagnosis by herself, another family member, a physician, or the counselor. Previously, the only 124options at that time would have been to review with her the risks for the two types of inheritance then known to be involved and refer her for some psychological counseling in the hope that she might modify her feelings. Currently, array-based genetic testing of the prospective parents for the known markers of the various degenerative muscle disorders could be conducted to determine the possibility of genetic transmission.

Sometimes when a precise diagnosis cannot be made, the history and pedigree clearly reveals the mode of inheritance operating in that particular family, and counseling can proceed on that basis. Searches of the literature may be valuable in locating case reports with similar features and contacting the author or in locating experts who are using new techniques for rare disorders. If sequencing or array studies have been conducted, these can readily be uploaded and compared against large genetic databases such as Online Mendelian Inheritance in Man (OMIM), which is a freely available comprehensive, authoritative compendium of human genes and genetic phenotypes.

Inaccurate diagnosis can result from failure to recognize mild expression of a disorder. In another situation, young adults who learned that their institutionalized sibling had tuberous sclerosis complex (TSC) and that this could be inherited sought counseling. Examination included using a Woods lamp (ultraviolet light) to look at the skin for white, leaf-shaped macules and expert ophthalmological evaluation. Neither sibling had intellectual disability or seizures, which are often part of the disorder. One was ultimately found to have characteristic skin lesions and therefore was presumed affected following confirmation with CT or MRI of the brain. Counseling could proceed on the basis of the risk of transmitting this autosomal dominant disorder and the unpredictability of its severity in any children he might have. Sometimes the counselee may deliberately conceal stigmata of a disorder. In Chapter 4, a woman with Waardenburg syndrome type 1 who had only the white forelock of hair was described. When speaking to the counselor privately, she revealed that she dyed her hair to conceal it. However, she did not want the counselor to tell her husband (this was a second marriage) that she in fact had the gene that was present in its full-blown form in her child, because she felt that she could not handle the guilt or blame she believed would be forthcoming.

Another type of diagnostic problem is exemplified by the case of a couple who was referred to a counselor for infertility. A chromosome analysis was done that revealed that the wife had a male karyotype of 46,XY. She had testicular feminization syndrome, also known as complete androgen insensitivity syndrome. It is important to emphasize that she was not a male in nongenetic ways. She was raised as a female, believed she was a female, and looked phenotypically like a female, but she could not conceive. She was married to a normal man. Prior to the 1990s counselors believed that the counselor should not give them a specific diagnosis, but just tell them generally that there is a chromosome problem causing the infertility and recommend adoption. Currently it is the recommended practice to disclose the genotype at the time of diagnosis, starting when the affected girl is at least of adolescent age. If the affected individual is an infant or child, it is generally left to the decision of the parents in consultation with psychologists when to disclose the condition.

125Determining and Communicating Recurrence Risks and Discussing the Disorder

After the initial visit there may be a considerable lapse of time during which all of the information is assembled. If the counselee is not aware that this is a usual occurrence, there may be considerable concern generated, so this information should be included at the conclusion of the initial visit. When the process of information gathering is completed, the geneticist must use all of the information collected to determine the risk of recurrence of a disorder for a child of the counselee, or for the counselees themselves, to be either a carrier or to develop the disorder in question. When planning the process of sharing the acquired information with the counselee, the geneticist takes into account the educational level and the ethnic, socioeconomic, and cultural background of the couple. Many counselees are reluctant to acknowledge that they do not understand the counselor, and so they may come away from the session with misinformation and confusion. Therefore, the counselor must take care to explain things in simple terms and repeat the content in different ways. The use of pictures, videotapes, computer programs, audiotapes, charts, photographs, and diagrams is helpful. Providing the counselees with information to take home with them or links to online sources is also helpful. In some Native American cultures, storytelling is an appropriate way to communicate the information. Asking the clients to repeat the information in their own words as the session proceeds may also assess understanding. Clients can also be asked to discuss the meaning of this information to them so that misconceptions can be addressed. Most counselees already have formed an idea about recurrence risks before genetic counseling, which is usually higher than the real risks. Some counselors also form ideas about risks in which they arbitrarily label those above 10% as high and below 10% as low. This pre-interpretation of material in order to present material simply is unacceptable.

Recurrence risks can be presented in different ways. The meaning of probability or odds can sometimes be clarified by the use of special color-coded dice appropriate to the mode of inheritance. Coin flipping is another method used. Risks can be phrased in more than one way, and the manner of their presentation is important. For example, one can say, “For each pregnancy, there is a one in four chance that the infant will have Hurler disease,” or, “For each pregnancy, there is a three in four chance that the baby will not have Hurler disease.” In the Mendelian disorders, it is important to clarify that this risk is true for each pregnancy—that “chance has no memory”—and so although they may have one affected child already, this does not influence the outcome of future pregnancies (aside from the possibility of gonadal mosaicism). In any case, the counselee must process the information relative to the risk of recurrence and make it personally meaningful, as each views it in terms of his or her own life experience. The meaning of a high risk of having male children with a genetic disease may be different to a Mexican American couple, because of a higher cultural value placed on a male infant, than to one of different ethnic origin. For some Bedouin populations, among whom about 60% of marriages are consanguineous, childbearing has a very high value. Women attain a higher status when they become mothers. Therefore, for example, some families prefer to take a 25% risk of a child affected with an autosomal recessive disorder and have the child die soon after birth rather than not have children, or practice selective pregnancy termination.

126Sometimes the counselee’s perception of the risk is quite different from that of the counselor’s. Some see a risk of 50% for an affected child as “having a chance to break even” and do not view it as high. Others find a 2% risk unacceptable. Risks are also seen in the light of what they are for. Some can accept a high risk for a child to be born with a cleft lip, whereas for others, even a minimal risk of intellectual disability cannot be borne. Sometimes the counselor can be surprised by the client’s response. A couple who both have achondroplasia were told their chances of conceiving a child of normal stature was only one in four. This was good news to them, as they believed they would have difficulty in adjusting to raising a child of normal stature. In an opposite example, a woman who had two children with celiac disease was given a risk of 10% for the next pregnancy to be similarly affected. This estimate was too low for her because she believed that the adjustment of the whole family to a gluten-free diet would be compromised by the birth of a normal child. Sometimes it is difficult for the counselor to remain neutral when parents with a genetic disorder choose to have a child who has a high risk for having the same disorder; however, most believe that genetic counselors need to support their clients in their decisions or refer them to someone who can. Risk figures may also be looked at by the clients in terms of what else is going on in their lives. For example, women who are undocumented immigrants, in an abusive relationship, struggling with poverty, living in dangerous or unsanitary conditions, and other issues may not regard genetic risks for a pregnancy as a pressing life issue regardless of the extent of that risk.

Along with risk figures, the natural history and impact of the disorder in question should be discussed, as the burden may not be appreciated or else it may be exaggerated. Then options appropriate to the individual counselee’s problem can be discussed. These include prenatal diagnosis, a treatment plan, and other reproductive options. Alternatives such as “taking a chance,” adoption, sterilization, sperm and egg donation, in vitro fertilization (IVF), pre-implantation diagnosis, and selective embryo transfer can be presented if they are relevant. Newer options such as three-person IVF may also be considered in rare cases. Although the couple should make the ultimate decision for options, the counselor may encourage them to think over the possibilities for a period of time if time is not a critical factor in their situation. In some cultures, the counselees may need to consult the entire family or certain respected members such as elders. Then the counselor should support their decision and help to make arrangements to facilitate that decision regardless of the personal opinion of the counselor. If that is not possible, they should be sure that another staff member meets with the clients to do that. If the family has sought genetic services because of the need to ascertain what the problem is in a family member, then decision making centers around the need to plan for the resources necessary for coping. To do this, they must have some ideas of what types of problems and what degree of disability and deterioration may be realistically expected, what treatments and resources are available, what living adjustments need to be made, and what kinds of ultimate outcomes are possible.

What is considered a disability varies from culture to culture. Arrangements may be made with persons who have made various types of decisions in this regard. In the case of deciding on reproductive alternatives, it may be useful to have them meet with parents of a child with the disorder in question, and perhaps with both parents 127who have chosen pregnancy termination and those who have not. Long-term help with coping may be provided by the same genetic group during the counseling sessions or referrals, and the coordinator for comprehensive ongoing care may make arrangements. The counselees may need to have their self-worth affirmed and perhaps mourn the loss of their “normal” child if they have not already done so.

In the case of some disorders, it is desirable to notify extended family members that they are at risk for a detrimental gene, chromosomal aberration, or an adverse outcome because of their possible condition. The counselee’s permission for this and for a release of information should be obtained, preferably before any testing or counseling. This issue is discussed further in Chapter 13. The siblings of an affected person may need to be tested or examined, and the extent of this could depend on their age. If a couple is seeking counseling after birth of an affected infant, it may be appropriate to inform the parents that genetic counseling would be important in the future for other family members, such as other children in the family at the appropriate age. In Japanese and some other cultures, privacy may be quite valued.

After risks and options have been discussed, understanding can be assessed. Counselees should be able to tell the counselor in their own words what they understand about the disorder, how it was caused, what the risk is for recurrence, and what kinds of options are available and should be considered. Counselees should always be asked if there is anything else they want to know or if there are any other questions they have. Clients should always be supported in the decisions that they reach.

The traditional approach to genetic counseling was nondirective. The use of a directive approach without modifiers may reflect traditional paternalistic or maternalistic views of counseling. An approach reflecting an omnipotent or a one-sided relationship can be accentuated by the sometimes intimidating physical setting of a hospital or clinic, particularly if the genetic counseling is taking place in the context of a clinical trial. The use of a nondirective approach implies that both decision making and chosen courses of action become primarily the responsibility of the counselees, and not the counselor. This allows the counselee to maintain autonomy and control and to play an active role in decision making. It also provides some feelings of security for the counselor by relieving him or her of any decision-making burden. Another reason for using a value-neutral, nondirective approach in genetic counseling is that the counselor often does not know the client well or does not have an ongoing relationship with the client because the counselor is usually not the regular health caregiver. Therefore, the counselor may not be aware of the counselee’s resources, coping abilities, family and financial circumstances, or values or belief systems or understand the impact of the genetic problem at hand on this particular counselee. The counselees possess some information that is not necessarily shared with the counselor but contributes to his or her ultimate decision.

The nondirective approach contrasts with traditional medical practice. Therefore, some counselees expect to be told what to do as one counseling outcome, and they are confused when expected to make their own decisions. Clients may expect that the counselor should give expert advice because of his or her professional skills and knowledge. They may expect that as part of duty fulfillment and “getting their money’s worth.” Can any counselor be value neutral? For example, does an offer for 128prenatal diagnosis imply a recommendation to accept that offer or a tacit recommendation to terminate an abnormal pregnancy? Does respect for a client’s decisions and autonomy ever conflict with the principle of avoiding harm?

Probably few genetic counselors can always use a completely directive or nondirective approach. For one thing, it can be almost impossible for counselors not to communicate some of their own feelings and opinions by nonverbal cues or voice tones. Probably most genetic counselors today believe that their role lies chiefly in the clarification of issues and options once the material necessary has been presented in a way that clients can understand. When counselees have reached a decision, every effort should be made to facilitate and support that decision.

Follow-Up

After counseling is completed, a postcounseling follow-up letter should be sent to the counselee and the referring professional, reiterating the essential information covered in the counseling session. Information and findings should be saved to the electronic health record when possible with access provided to the counselees. This gives them something tangible to refer to when needed. A follow-up phone call is used to see if there are any additional questions. A home visit can be arranged through the community health nurse or genetic clinic nurse to assess coping, identify problems, and answer questions.

The Nurse in the Genetic Counseling Process

Nurses may play a variety of roles in genetic counseling that reflect their preparation, area of practice, primary functions, and setting. These roles will involve collaboration with other disciplines. One of the prime ways in which the nurse who is not involved in the offering of direct genetic services can help is by recognizing and referring clients and families in need of such services to the appropriate professionals. If the nurse is not sure about appropriate professionals, he or she should find out from another knowledgeable person. It may be a reasonable standard of practice to know which patients to refer to genetic specialists or counselors. Whether genetic counseling has been offered to hospitalized patients and their families for whom it would be appropriate can be noted on the chart and discharge summary, along with the results. Nurses also need to assess clients’ understanding of any treatments to be carried out, such as for prophylactic penicillin in children with sickle cell anemia to prevent infection, and help the clients plan how they will implement the therapy, especially over the long term.

In addition to providing direct counseling or education, nurses may assist clients or families with genetic or potential genetic problems in many other ways:

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