Goals of genetic counseling

The goals of genetic counseling have differed over the past three decades. Two schools of thought are prominent in reviewing past literature. One upholds the goal of preventing birth defects and genetic disorders while the other promotes a goal of improved psychological well-being in client adaptation to a genetic condition or risk. Both types of goals emphasize that clients should make their own reproductive decisions; however, the former relies on clients making decisions that will reduce the impact of genetic disorders. The differences in the types of goals may be due to the training and orientation of genetics health care providers, socio-cultural views, or priorities of health care settings. Regardless, there are ample reasons to dismiss the prevention of birth defects as a goal. This mini-review recommends use of genetic counseling sub-specialties as a framework for considering different client needs and thus different counseling goals and specific aims in the reproductive, pediatric/adult, and common disease settings. Given the extent of new genetic information, technologies, and the need to evaluate genetic counseling practice, genetics health care providers should work toward arriving at consensus on the goals of genetic counseling, and in doing so, the needs of clients should be considered.     

Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment

Most studies of outcomes of genetic counseling have focused on client knowledge, reproductive plans and behavior, or satisfaction. Other measures of the "value" of genetic counseling are needed to guide research assessing the impact of genetic counseling on individuals and populations, as well as to improve the process of providing care. To obtain input from providers, we conducted telephone interviews with six experienced genetic counselors, and then we held a focus group with 10 additional genetic counselors from a variety of practice settings. To obtain input from consumers, telephone interviews were also conducted with 19 past clients of these participating counselors. We found that counselor goals focus on meeting clients' needs, usually educating and providing psychosocial support. Clients often had few goals going into a session because they were unaware of what would be discussed or how the session would be structured. They usually did not expect to receive "counseling," and when they did, it was a welcome surprise. Both clients and counselors commented that a positive interpersonal interaction and "connecting" are primary measures of success. All clients appreciated the large amount of time spent with the counselor, and the manner (clear, comprehensive, and unhurried) of providing information. Many clients said that genetic counseling resulted in improved communication with their partners and other family members. Clients view the counselor as an "expert" and value the counselor as an on-going resource for both information and support. These "outcomes"f genetic counseling need to be assessed, and new measures must be developed.     

Development and validation of the Psychological Adaptation Scale (PAS): Use in six studies of adaptation to a health condition or risk

Objective

We introduce The Psychological Adaptation Scale (PAS) for assessing adaptation to a chronic condition or risk and present validity data from six studies of genetic conditions.

Methods

Informed by theory, we identified four domains of adaptation: effective coping, self-esteem, social integration, and spiritual/existential meaning. Items were selected from the PROMIS “positive illness impact” item bank and adapted from the Rosenberg self-esteem scale to create a 20-item scale. Each domain included five items, with four sub-scale scores. Data from studies of six populations: adults affected with or at risk for genetic conditions (N = 3) and caregivers of children with genetic conditions (N = 3) were analyzed using confirmatory factor analyses (CFA).

Results

CFA suggested that all but five posited items converge on the domains as designed. Invariance of the PAS amongst the studies further suggested it is a valid and reliable tool to facilitate comparisons of adaptation across conditions.

Conclusion

Use of the PAS will standardize assessments of adaptation and foster understanding of the relationships among related health outcomes, such as quality of life and psychological well-being.

Practice implications

Clinical interventions can be designed based on PAS data to enhance dimensions of psychological adaptation to a chronic health condition or risk.     

Process studies in genetic counseling: peering into the black box.

Genetic counseling is a dynamic psychoeducational process. Yet we know very little about its interior. Process research explores what transpires between providers and their clients and can serve to provide insight into unknown practice dimensions. The few process studies that have been conducted in genetic counseling provide a glimpse into the Black Box, but more of this type of research is needed to examine the contents. To achieve success with process studies a contemporary definition of genetic counseling is proposed. Thoughtfully designed process studies in genetic counseling will provide the data to refine the definition and identify the components of counseling, the communication process between provider and client, the therapeutic interventions used by counselors, and the needs, attitudes and expectations of clients. Overall, process studies will contribute to a more accurate understanding of the practice of genetic counseling.     

Improving psychotherapy outcome: the use of immediate electronic feedback and revised clinical support tools

The benefits of psychotherapy have been well documented; however, 5–10% of clients worsen while in treatment and another minority shows no response. The effects of feedback timing (delayed or immediate) and type (progress feedback and Clinical Support Tool [CST] feedback), aimed at reducing deterioration and improving outcomes, were examined in a sample of 1101 clients whose outcome was contrasted across experimental groups and with two archival groups: a delayed progress feedback and CST feedback group (n = 1374) and a treatment‐as‐usual control group (n = 1445). Progress feedback to therapists improved outcomes, especially for cases at risk for a negative outcome, but direct progress feedback to clients did not. Effects were significantly enhanced by using the manual‐based CST. There were no significant differences in outcome between the 1‐week‐delayed CST feedback and 2‐week‐delayed CST feedback groups; however, clients in the week‐delayed CST feedback timing condition attended three less sessions, on average, than their 2‐week‐delayed CST feedback counterparts while maintaining similar treatment gains. Results were interpreted as supporting the value of monitoring client progress and feeding back this information to therapists as well as assisting therapists in problem solving with cases at risk for treatment failure. Copyright © 2008 John Wiley & Sons, Ltd.     

Outcomes and process in genetic counselling

Although it may be simple to evaluate some elements of clinical genetics, it is difficult to evaluate genetic counselling. We review previous studies of the outcomes of genetic counselling; although the methods used may be valid in research studies, there are practical and ethical difficulties in applying them to the measurement of clinical effectiveness in standard practice. No simple measures of outcomes would be suitable. Research evidence will be helpful in deciding what services it is appropriate to offer, and the quality of a service can then be assured by assessing the quality of the clinical process in three ways: 1) adherence to agreed protocols and standards of care; 2) peer review and audit of clinical activity; and 3) ongoing review of the satisfaction of clients and referring physicians with the service. The assessment of client satisfaction will need to be a sophisticated form of retrospective satisfaction with the service provided, and such a scheme has yet to be fully developed.     

Preventing cold-related morbidity and mortality in a changing climate

Winter weather patterns are anticipated to become more variable with increasing average global temperatures. Research shows that excess morbidity and mortality occurs during cold weather periods. We critically reviewed evidence relating temperature variability, health outcomes, and adaptation strategies to cold weather. Health outcomes included cardiovascular-, respiratory-, cerebrovascular-, and all-cause morbidity and mortality. Individual and contextual risk factors were assessed to highlight associations between individual- and neighborhood-level characteristics that contribute to a person's vulnerability to variability in cold weather events. Epidemiologic studies indicate that the populations most vulnerable to variations in cold winter weather are the elderly, rural and, generally, populations living in moderate winter climates. Fortunately, cold-related morbidity and mortality are preventable and strategies exist for protecting populations from these adverse health outcomes. We present a range of adaptation strategies that can be implemented at the individual, building, and neighborhood level to protect vulnerable populations from cold-related morbidity and mortality. The existing research justifies the need for increased outreach to individuals and communities for education on protective adaptations in cold weather. We propose that future climate change adaptation research couple building energy and thermal comfort models with epidemiological data to evaluate and quantify the impacts of adaptation strategies.     

Enhancing psychotherapy outcomes via providing feedback on client progress: a replication

Several systems have been developed to monitor and feedback information about a client's responses to psychotherapy as a method of enhancing client outcome. The current study divided 1020 clients into four groups (two experimental and two control) to determine if feedback regarding client progress, when provided to a therapist, affected client outcome and number of sessions attended. Results showed that feedback increased the duration of treatment and improved outcome for clients identified as potential treatment failures thereby replicating an earlier study using nearly identical methodology. Nearly twice as many clients in the feedback group achieved clinically significant or reliable change and fewer were classified as deteriorated by the time treatment ended. For those clients who were predicted to have a positive response to treatment, feedback to therapists resulted in an equal number of treatment sessions and equivalent outcomes compared to the no feedback controls. The results are discussed in terms of quality management in routine clinical practice and the need to base treatment decisions on clients' response to treatment rather than arbitrary session limits. Suggestions for additional research aimed at enhancing the effects of feedback on client outcome are made. Copyright © 2002 John Wiley & Sons, Ltd.     

Does the quality of safetalk motivational interviewing counseling predict sexual behavior outcomes among people living with HIV?

ObjectiveAlthough past research has demonstrated a link between the quality of motivational interviewing (MI) counseling and client behavior change, this relationship has not been examined in the context of sexual risk behavior among people living with HIV/AIDS. We studied MI quality and unprotected anal/vaginal intercourse (UAVI) in the context of SafeTalk, an evidence-based secondary HIV prevention intervention.MethodsWe used a structured instrument (the MISC 2.0 coding system) as well as a client-reported instrument to rate intervention sessions on aspects of MI quality. Then we correlated client-reported UAVI with specific counseling behaviors and the proportion of interactions that achieved MI quality benchmarks.Results/ConclusionHigher MISC-2.0 global ratings and a higher ratio of reflections to questions both significantly predicted fewer UAVI acts at 8-month follow-up. Analysis of client ratings, which was more exploratory, showed that clients who rated their sessions higher in counselor acceptance, client disclosure, and relevance reported higher numbers of UAVIs, whereas clients who selected higher ratings for perceived benefit were more likely to have fewer UAVI episodes.Practice implicationsFurther research is needed to determine the best methods of translating information about MI quality into dissemination of effective MI interventions with people living with HIV.     

The impact of client treatment preferences on outcome: a meta‐analysis

An important part of evidence‐based practice is to include client preferences in the treatment decision‐making process. However, based on previous reviews of the literature there is some question as to whether including client preferences actually has an effect on treatment outcome. This meta‐analytic review summarized data from over 2,300 clients across 26 studies comparing the treatment outcome differences between clients matched to a preferred treatment and clients not matched to a preferred treatment. The findings indicate a small significant effect (r=.15, CI_.95: .09 to .21) in favor of clients who received a preferred treatment. The binomial effect size indicated that matched clients have a 58% chance of showing greater improvement, and further analysis indicate that they are about half as likely to drop‐out of treatment when compared with clients not receiving a preferred treatment. Study design was seen to be a moderating variable in that partially randomized preference trials may underestimate the treatment preference effect. Implications for best practice standards are discussed. © 2009 Wiley Periodicals, Inc. J Clin Psychol 65:1–14, 2009.     

The influence of client characteristics on psychologists' ethical beliefs: an empirical investigation

Do psychologists' ethical beliefs depend upon client characteristics? In the current study, licensed psychologists were surveyed regarding their ethical beliefs using an adaptation of a frequently used list of therapist behaviors rated for ethicality (Pope, Tabachnick, & Keith‐Spiegel, 1987). In the current survey, the age, sex, and diagnostic severity of the hypothetical client were specified and varied between participants. Results indicated a significant interaction between client age and client sex, such that older male clients elicited lower overall ethicality ratings than did younger male clients, but older female clients elicited higher overall ethicality ratings than did younger female clients. This finding was especially robust when a subset of therapist behaviors involving assertive or discomforting therapist actions was considered. © 2004 Wiley Periodicals, Inc. J Clin Psychol.     

Remodeling rodent models to mimic human type 1 diabetes

Type 1 diabetes (T1D) occurs when the immune system attacks the insulin‐producing beta cells located in the islets of Langerhans within the pancreas. Animal models have played a prominent role in developing an understanding of this disease process, through studies of genetic susceptibility, progression of hyperglycemia, and novel approaches to therapy. Here, we critically evaluate the currently available diabetic animal models and their propensity to match and predict disease outcomes in man as well as propose new in vitro and in vivo systems that may facilitate progress in the T1D field.     

Case Management Interventions for HIV-Infected Individuals

Engagement of HIV-positive persons into care and achieving optimal antiretroviral treatment outcomes is a fundamental HIV prevention strategy. Case management model was recommended as a beneficial model of care for patients with a new HIV diagnosis, focusing on individuals with unmet needs, and linking them with the coordinated health and social services to achieve desired outcomes. HIV case management is population-driven and programs are designed to respond to the unique needs of the client population they serve, such as substance users, homeless, youth, and prison inmates. This view found 28 studies addressing effectiveness and impacts of case management intervention for people living with or at risk of HIV/AIDS. Effectiveness of case management intervention was categorized as follows: decreased mortality and improve health outcomes, linkage to and retention in care, decreased unmet needs, and reducing risky behaviors.     

Therapist use of silence in therapy: a survey

Eighty-one therapists responded to a mailed survey about their use of silence during a specific event in therapy and about their general attitudes about using silence in therapy. For the specific event, therapists used silence primarily to facilitate reflection, encourage responsibility, facilitate expression of feelings, not interrupt session flow, and convey empathy. During silence, therapists observed the client, thought about the therapy, and conveyed interest. In general, therapists indicated that they would use silence with clients who were actively problem solving, but they would not use silence with very disturbed clients. Therapists learned about using silence mostly through clinical experience.     

Client and therapist reasons for termination: a conceptualization and preliminary validation

While the comparison of client and therapist reasons for termination might shed light on their respective views of outcome and process, only one published study has examined directly the reasons given by therapist-client pairs. One barrier to such research is the absence of a systematic conceptualization of reasons for termination that incorporates both therapist and client perspectives. This article describes a comprehensive conceptualization, drawn from the existing literature, and applies a coding system based on that conceptualization to naturalistic clinical data from 123 therapist-client pairs in a psychology training clinic. Coders were able to categorize reliably open-ended client data into reasons for termination. For therapist and client data, the relationships between coding categories and participants' outcome ratings, generally were consistent with expectations, providing limited validation. Some support was found for concordance between therapist and client reasons, especially for those related to therapist or client departures, which were prominent in this setting. As expected, however, therapists were more likely than clients to endorse success as a reason for termination. Negative client feelings about therapy, including dissatisfaction, were reported infrequently as reasons for termination, and with little agreement between clients and therapists, but this may be due to methodological limitations.     

Utilizing broad-based partnerships to design a precision approach to implementing evidence-based home visiting

The aim of this paper is to describe a participatory process for adapting an implementation strategy, using a precision approach, for an evidence-based home visiting program, Family Spirit. Family Spirit serves Native American and low-income communities nationwide. To redesign Family Spirit's implementation strategy, we used workshops (n = 5) with key stakeholders and conducted an online survey with implementers (n = 81) to identify hypothesized active ingredients and “pivot points” to guide when to tailor the program and for whom. Active ingredients identified included the relationship between the home visitor and clients, lessons ensuring child safety and healthy development, parent–child communication, and goal setting. Pivot points included whether the client is a first-time mother who has substance abuse history, has a baby at risk for childhood obesity, and/or has sexual or reproductive health concerns. These results are informing the adaptation of Family Spirit’ implementation strategy making it more responsive to diverse families while balancing fidelity to the previously proven standard model.     

Client vs. rater judgments of counselor effectiveness

Forty-eight crisis counseling trainees roleplayed six crisis vignettes in each of two administrations with experienced crisis counselors as “clients.” A factorial design permitted randomization of counselor X “client” vignette. Ratings of counselor effectiveness were made by the clients in two conditions: a participant condition immediately after each crisis roleplay and an observer based on a sample of tapes of the crisis roleplays. Acceptable reliability was demonstrated within each condition, yet the ratings between conditions were not related. These findings suggest that the role of rater (whether participant or observer) significantly influences the meaning of such ratings and questions the present dismissal of the client as a rating source. The methodology used in this study to estimate the reliability of client ratings seems promising for further research in the area of counselor characteristics.     

Genetic counseling and reproductive uncertainty

Of 836 fertile women seeking genetic counseling, 544 (65%) reported that their major reason for doing so was to obtain information to help in deciding if they should have a child. Thirty-four percent of these 836 women entered counseling uncertain about undertaking a pregnancy in the next 2 years. After counseling, 28% of the 836 had uncertain pregnancy intentions. These included 66% of those who were uncertain and 11% of those who were reproductively certain before counseling. Stepwise logistic regression identified the following as independently and significantly associated with reproductive uncertainty after counseling: 1) uncertainty before counseling; 2) uncertainty about ideal family size; 3) concern about the effects of an affected child on the client's social life; 4) perceived serious problems caring for a child with a birth defect now living at home; and 5) new concerns raised in counseling. Reproductive uncertainty after counseling was not related to characteristics of the risked birth defect, level of risk, treatment potential, or client learning of medical and genetic facts. These data suggest that genetic counseling will not eliminate reproductive uncertainty for many clients, because this uncertainty is related to factors mainly outside the usual scope of counseling.