Jan Hodgson

A practical account of autonomy: why genetic counseling is especially well suited to the facilitation of informed autonomous decision making.

In genetic counseling, facilitation of autonomous decision-making is seen as a primary aim and respect for autonomy is used to justify a nondirective counseling approach whereby clients are free to make their own choices after being given all necessary information. However in the genetic counseling literature, autonomy as a concept appears to be interpreted variably and often narrowly. We offer a practical account of autonomy that is coherent, consistent and philosophically defensible for the genetic counseling setting. At the same time we demonstrate how nondirective counseling may serve to frustrate rather than facilitate client autonomy. We suggest that promoting purposeful dialogue rather than counseling that is nondirective is more conducive to client autonomy.In genetic counseling, facilitation of autonomous decision-making is seen as a primary aim and respect for autonomy is used to justify a nondirective counseling approach whereby clients are free to make their own choices after being given all necessary information. However in the genetic counseling literature, autonomy as a concept appears to be interpreted variably and often narrowly. We offer a practical account of autonomy that is coherent, consistent and philosophically defensible for the genetic counseling setting. At the same time we demonstrate how nondirective counseling may serve to frustrate rather than facilitate client autonomy. We suggest that promoting purposeful dialogue rather than counseling that is nondirective is more conducive to client autonomy.

Enhancing Family Communication About Genetics: Ethical and Professional Dilemmas

When a new genetic condition is diagnosed within a family, genetic counselors often describe a sense of responsibility towards other at risk family members to be appropriately informed about their status. Successful communication of genetic information in families is contingent on many factors. While a small number of probands directly state their intention not to inform their relatives, many who do intend to communicate this information appear to be unsuccessful for a wide range of reasons and may benefit from follow up support from a genetic counselor. Drawing on the reciprocal-engagement model (REM) of genetic counseling practice we explore how enhancing family communication about genetics raises a number of ethical and professional challenges for counselors—and describe how we resolved these. A subsequent manuscript will describe the counseling framework we have developed to enhance family communication about genetics.

“Testing Times, Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.

“SLANG”—Sensitive Language and the New Genetics—an Exploratory Study

SLANG—Sensitive Language and the New Genetics—is a concept that arose out of informal discussions between a number of interested parties, both consumers and professionals, who were becoming increasingly uneasy with some of the language commonly used in medical genetics. Some language choices were felt by the authors to be inappropriate for a variety of reasons. Poor language choice may impede an individuals understanding of a genetic condition or important medical information and the chosen words themselves may simply be perceived as discriminatory and even offensive.SLANG is an important concept to explore partly because literature in this area confirms that language choices in medical settings can be of great significance to both patients and families. Studies have shown how language choices impact on professional practice by, as one example, changing the intended meaning of medical information and affecting individual perception of risk and choice which, in turn, may affect individual or familial well-being. In addition language choice has the power to affect how individuals perceive themselves and are viewed by others. This paper presents the results from our pilot study and discusses the implications for health professionals with particular reference to medical genetics settings.

Analyzing communication in genetic consultations--a systematic review.

OBJECTIVE To systematically review studies that have analyzed communication within medical consultations involving genetic specialists and report on their findings and design. METHODS Drawing from PRISMA and appropriate guidelines for reviewing qualitative research, a systematic search of seven databases was conducted, followed by selection of studies for inclusion based on a set of criteria. Three authors conducted data extraction and narrative synthesis. RESULTS Twenty-two studies were identified and were heterogeneous in setting, design, and methods, with many including limited descriptions of health professionals involved. Despite this variability, studies generally pursued the following three main objectives: searching for structural patterns within consultations, investigating communication and genetic counseling concepts, and linking process with input- and outcome-measures. Structural patterns identified included clinician dialog dominating consultations, and talk being mostly biomedical. Counseling and communication concepts investigated were: risk communication, the negotiation of power and knowledge, and adherence to genetic counseling ideals. Attempts to link consultation data to input- or outcome-measures were often unsuccessful. CONCLUSION More interdisciplinary research, grounded in appropriate theoretical frameworks, is needed to explore inherent complexities in this setting. PRACTICE IMPLICATIONS Findings from this review can be used to guide the design of future research into the process of genetic consultations.

Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.

When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, and so it is frequently the responsibility of the first person in a family to receive the diagnosis (the proband) to share this news. Communication of genetic information is challenging and many at-risk family members remain unaware of important information that may be relevant to their or their children’s health. We conducted a randomised controlled trial in six public hospitals to assess whether a specifically designed telephone counselling intervention improved family communication about a new genetic diagnosis. Ninety-five probands/parents of probands were recruited from genetics clinics and randomised to the intervention or control group. The primary outcome measure was the difference between the proportion of at-risk relatives who contacted genetics services for information and/or genetic testing. Audit of the family genetic file after 18 months revealed that 25.6% of intervention group relatives compared with 20.9% of control group relatives made contact with genetic services (adjusted odds ratio (OR) 1.30, 95% confidence interval 0.70–2.42, P=0.40). Although no major difference was detected overall between the intervention and control groups, there was more contact in the intervention group where the genetic condition conferred a high risk to offspring (adjusted OR 24.0, 95% confidence interval 3.4–168.5, P=0.001). The increasing sophistication and scope of genetic testing makes it imperative for health professionals to consider additional ways of supporting families in communicating genetic information.

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

BackgroundGenetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.MethodsThis is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms – the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.DiscussionThis study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.Trial registrationAustralia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.

Talking about Disability in Prenatal Genetic Counseling: A Report of Two Interactive Workshops

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for—many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors’ perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants’ knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.

Suddenly having two positive people who are carriers is a whole new thing - experiences of couples both identified as carriers of cystic fibrosis through a population-based carrier screening program in Australia

A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the “next step.” The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.

A Genetic Counseling Intervention to Facilitate Family Communication About Inherited Conditions

This paper describes the development and implementation of the first intervention to facilitate family communication of genetic information based on a genetic counseling model of practice. The intervention is telephone-based and therefore designed to complement face-to-face genetic counseling consultations. It was developed by firstly reviewing the literature and a model of genetic counseling practice, leading to definition of seven core principles underpinning the intervention. A counseling framework based on these principles was developed through iterative role playing and review, tested for consistency with good practice and piloted on ten study participants. It was found to be feasible to implement and consistent with good genetic counseling practice. Implementation included training of the genetic counselors who would deliver the intervention as part of a randomized controlled trial. Noteworthy deviations from good genetic counseling practice were observed, with unexpected additional insights into the ‘black box’ of genetic counseling that may have wider implications and would benefit from further investigation. The intervention is currently being evaluated in a randomized controlled trial, to assess its impact on the number of family members attending genetic services.