Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy

Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of “patients” who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.     

Extended Family Impact of Genetic Testing: The Experiences of X-linked Carrier Grandmothers

In many cases, X-linked conditions are transmitted through families “silently” until the first affected individual is diagnosed. Grandmothers are often then tested to help determine the risk to other family members. To date, psychosocial research on carriers of X-linked conditions has focused primarily on mothers and sisters of affected males. In the wider social science literature, studies on grandparents of children with disabilities have centered on their role within the family and relationship with the grandchild. We therefore know little about the impact of carrier testing for a genetic condition on grandparents. This qualitative study aims to contribute towards filling that gap. This study included thirteen grandmothers in families with Fragile X or Duchenne muscular dystrophy; ten had living affected grandsons and three had daughters who chose not to continue with affected male pregnancies after prenatal diagnosis. All thirteen took part in semi-structured interviews and provided a rich and varied data source for conducting thematic analysis. Most of the grandmothers expressed recurring feelings of guilt and a strong sense of responsibility for what had occurred in the family. Other themes included feelings of shock after receiving their test result, changes in family relationships and searching to make sense of the inheritance within the context of the family’s experience. This study provides evidence that X-linked carrier testing can have a profound and lasting impact on grandmothers. Although genetic counseling for X-linked conditions is often focused on the potential reproductive implications for carriers, these findings suggest that grandmothers should also be offered genetic counseling when tests are carried out, because of the likely psychosocial impact of a positive test result.     

Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping

There is a general consensus that HFE- related Hereditary Haemochromatosis (HFE-HH) should be diagnosed at early stages in pre-symptomatic individuals, in order to prevent the most severe consequences of iron overload. In Portugal, despite an increasing number of requests for genetic diagnosis of this rare disease, there is not a corresponding increase in requests for genetic counselling. The objective of the present study was to evaluate physicians’ main motivations for requesting HFE genotyping or genetic counselling for HFE-HH. We assessed current medical practices regarding family testing and diagnosis and discuss whether these can be improved in order to increase the effectiveness of disease prevention. Our results show there is a general lack of knowledge about the selection of patient cases that should be sent for genetic counseling or for molecular testing of HFE-HH by physicians (especially by general practitioners). The lack of family-based screening may indirectly compromise the efficiency of disease prevention in terms of early diagnosis and treatment. We concluded it is necessary to circulate more information about Hereditary Haemochromatosis among health professionals in order to improve strategies for its early diagnosis.     

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.     

Genetic Counselling for Psychiatric Disorders: Accounts of Psychiatric Health Professionals in the United Kingdom

Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity.     

Prenatal diagnosis for "minor" genetic abnormalities is ethical

Is it justified to detect minor genetic aberrations before birth and terminate pregnancies based upon such information? We present the case of a woman who wanted Prenatal Diagnosis (PND) to detect whether her female fetus was a Haemophilia mutation carrier. Such carriers are usually healthy. She wished to eradicate the Haemophilia mutation from her family to avoid future generations being affected and to protect her children from having to go through PND themselves. We explore existing guidelines, public attitudes and possible objections to providing PND for minor abnormalities. We argue that in a society where couples have considerable autonomy relating to decisions about the fetus at least until viability, the routine restriction of PND for minor genetic abnormalities would be an unjust infringement of individual liberty.     

Online counselling: a descriptive analysis of therapy services on the Internet

This study investigated the emerging practice of online counselling. Although the traditional practice of counselling involves face-to-face interaction between counsellor and client, a growing number of practitioners are providing counselling or therapy services via the Internet. In the present study, a total of 67 online counsellors completed a questionnaire exploring the backgrounds, services, fees, and communication technologies of practitioners offering online counselling to the public. Results suggest that online counselling is conducted by relatively experienced, primarily Western-based practitioners and is characterised by the use of email. Online clients are mainly female and receive relatively short-term interventions. Although the field appears to be evolving as its popularity increases, some ethical concerns raised by early research remain inadequately addressed.     

Sociosexuality and face perception: Unrestricted sexual orientation facilitates sensitivity to female facial cues

Across two studies, sexually unrestricted men and women showed heightened sensitivity to female facial symmetry (a signal of genetic fitness) and female sexual receptivity (happy facial expressions). In Study 1, individuals assessed the attractiveness of male and female targets of varying facial symmetry. Sexually unrestricted men and women, compared to their sexually restricted counterparts, showed a stronger symmetry advantage in attractiveness ratings for female targets, an indication of greater sensitivity to facial symmetry. Study 2 asked participants to discriminate between genuine (Duchenne) and deceptive smiles on both male and female faces. Results indicated that sexually unrestricted men and women, compared to sexually restricted individuals, were better able to discriminate between these actual and deceptive signals of receptivity for female targets. Neither study found any relationship between sociosexual orientation and the perception of male targets. These results suggest that sexually unrestricted individuals are attuned to reproductively-relevant cues in female faces.     

Fears about Seeking Therapeutic Help: The Effect of Sex of Subject, Sex of Professional, and Title of Professional

96 subjects were asked to imagine that they had gone to their GP for help with an emotional problem. The subjects were further asked to imagine that the GP had referred them to either a male or female counsellor, clinical psychologist or psychiatrist. Whilst in role, subjects were asked to rate their concern about 15 possible fears of therapy, and to indicate their preference for a male or female therapist. There was little support for the hypothesis that female subjects would have lower fear ratings than male subjects. Equivocal support was found for the hypothesis that there would be an overall preference for female therapists. Results partially supported the hypothesis that fear ratings would be highest with respect to psychiatrists; the interaction of the sex of subject and the title of professional variables indicated that this was particularly so when the psychiatrist was female. The implications for counselling are briefly discussed, with regard to preparing clients for therapy.     

Adolescents' attitudes toward confidentiality between the school counsellor and the adolescent client

It is increasingly acknowledged that confidentiality is relative rather than absolute in any counselling relationship. This is particularly the case for minors receiving counselling at school, where third parties such as parents and teachers frequently have access to information about an adolescent client. The Australian Psychological Society's Code of Professional Conduct (1986) states that minors are unable to provide voluntary, informed consent in consulting relationships, although current research does not necessarily support this view. The current study investigated adolescents' attitudes to confidentiality in situations that may commonly arise in school counselling. The study also investigated the third parties to whom adolescents believed information should be disclosed by a counsellor. Respondents were 303 male and 254 female students attending three single-sex nongovernment schools. Ages ranged from 13 to 18 years. Results suggested that the adolescents' attitudes to confidentiality generally corresponded with adult views. Many adolescents wanted more autonomy regarding disclosure of information obtained in a counselling situation than the APS code provides. Parents were the only third party to whom the adolescents generally believed disclosure should be made. There were few age differences, but a wide range of opinions were evident, with female adolescents consistently more strongly in favor of confidentiality than males.     

Counselling and the schizophrenias

Schizophrenia is the collective name given to allied psychiatric disorders each of which has received a number of different professional interpretations. A primary counselling task is to help staff resolve conflicts over treatment, and give them support during their care of patients. Counselling patients and families, particularly through opportunities provided by self-help groups, is also discussed. The specialised work of genetic, psychoanalytical and behavioural counselling is considered, and stress is laid on the importance of counselling the adolescent schizophrenic for whom early help is vital to prevent deterioration. The article focuses on those areas where marriage guidance counsellors, social workers and probation officers are most likely to be consulted.     

Helping Couples Fulfill the “Highest of Life’s Goals”: Mate Selection,Marriage Counselling,and Genetic Counseling in United States

This article traces the history of modern genetic counseling to mate selection and marriage counselling practices of the early-20th century. Mate selection revolved around a belief that human heredity could be improved and genetic diseases eradicated through better breeding. Marriage counselling, though interested in reproduction, was also concerned with the emotional and psychological well-being of couples. These two practices coalesced most obviously in the work of well-known geneticist Sheldon Reed. Even as marriage and genetic counselling diverged in the post-WWII period, vestiges of these practices remain in contemporary counseling experiences with family planning and genetic screening programs. Emphasizing points of continuity between “positive” eugenic ideologies and modern genetic practices elaborates the diverse origins of genetic counseling. It also exposes how genetic counselors have become involved in genetic enterprises beyond standard clinical settings, and prods at key issues in the interaction between genetic science and social values.     

Brief psychodynamic counselling with young adults

Short-term counselling is frequently employed within university counselling services in which there can often be an inherent institutional objective of returning students to the academic treadmill as soon as possible (Coren, 1996). On the other hand, this is perhaps tempered by the availability of counselling throughout the student's academic career, affording them the opportunity to return for further intensive short-term work (or longer-term if indicated or required). However, research into the effectiveness of short-term counselling suggests that interventions of less than eight sessions are as effective as those lasting significantly longer (Barkham, 1989). This may be particularly true in the case of students experiencing transitory problems relating to their life at university. This paper uses a case illustration to examine the value of short-term psychodynamic counselling in a university situation.     

Genograms in counselling practice: A review (Part 1)

Genograms are an important clinical tool for many counsellor, therapists and other health care professionals and can be used for assessment, gathering information on family relationships and exploring themes in counselling practice. This article reviews the recent literature on genograms and examines the efficacy and use of this tool from a number of perspectives including the use of genograms in health care, psychological counselling and in genetic counselling. The predictive value, and future development of the use of the genogram in counselling are also discussed.     

The professional identity of counselling psychologists in health care: a review and call for research

Despite (a) anecdotal evidence which suggests that it is possible to be a counselling psychologist in non-traditional settings, and (b) the potential integration of counselling psychology foci with the medical model, there has been some discussion about whether counselling psychologists who practice in health care settings might experience a change in their professional identity. Professional identity is defined here as a sense of connection to the values and emphases of counselling psychology. The retention of professional identity seems important for counselling psychologists in health care settings. This is considering that the application of counselling psychology principles has the potential to make their contributions unique among mental health professionals in the health care arena. Here, the authors describe the evolution of ‘counselling health psychology’ and address issues of professional identity. Limitations of existing literature are examined. Recommendations for future research are also made.     

Perceived Versus Predicted Risks of Colorectal Cancer and Self-Reported Colonoscopies by Members of Mismatch Repair Gene Mutation-Carrying Families Who Have Declined Genetic Testing

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p?<?0.001); this was independent of age and sex (p?=?0.9). Among those reporting any medical advice and any screening colonoscopy (n?=?18), those with higher risk perception had less frequent colonoscopy (Pearson’s r?=?0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.     

Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome

We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for diagnosis, symptomatology and genetic counselling of the syndrome are discussed.     

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors

Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood. Molecular analysis of this gene is achieved with both the polymerase chain reaction (PCR) and Southern blot techniques. PCR is faster and can determine the actual number of CGG repeats, which modifies genetic counseling substantially. However, for a sizeable percentage of women, PCR alone is not conclusive, and Southern analysis is necessary to complete the study. While this procedure takes longer, it is usually conclusive. Women who present for genetic counseling and carrier testing in the second trimester of pregnancy need this information quickly, and for them the turn-around time is paramount. It is critical that genetic counselors understand these methods so that they can educate their clients and facilitate appropriate follow-up.     

Some problems of genetic counseling in schizophrenic psychoses

The authors sum up the most important basic principles of diagnostics and genetics of the schizophrenic psychoses from the viewpoint of genetic counseling for the practising psychiatrist and medical geneticist. Regarding genetic counselling strategy, in addition to nosological considerations, they stress the importance of socio-cultural and social psychological factors and of the emotional atmosphere in the family, which should all be taken into account together. Because of the special situation of schizophrenic (and in general, psychiatric) patients and their families, they regard it as advisable to set up a separate psychiatric genetic counselling service.     

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

There is little written about the quality of genetic counseling for men with the BRCA1/2 mutation. The purpose of this study was to describe the quality of genetic counseling and connected factors according to Finnish male BRCA1/2 mutation carriers’ (n?=?35) perspectives and reasons for seeking genetic counseling. Data were collected from the Departments of Clinical Genetics at five Finnish university hospitals. The exploratory study design was conducted using a 51-item questionnaire based on a previously devised quality of counseling model and analyzed using non-parametric tests and principle content analysis. The satisfaction level with genetic counseling was high, especially with regard to the content of genetic counseling. The benefit of genetic counseling on the quality of life differed significantly (p?<?0.001–0.009) from other factors. In particular, genetic counseling was in some cases associated to reduce the quality of life. Only 49 % of the male carriers felt they received sufficient counseling on social support. Attention to individual psychosocial support was proposed as an improvement to genetic counseling. Primary and secondary reasons for seeking genetic counseling and background information, such as education, affected the perceived quality of genetic counseling. The results of the study could be used to tailor genetic counseling for male BRCA1/2 mutation carriers.