Bonnie S. LeRoy

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

No consensus yet exists on how to handle incidental findings (IFs) in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are findings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed.

Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks and Archived Data Sets

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence.Genet Med 2012:14(4):361–384

Coming Full Circle: A Reciprocal-Engagement Model of Genetic Counseling Practice

As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession. Twenty-three program directors or their representatives from 20 genetic counseling graduate programs in North America listened to presentations and participated in group discussions aimed at determining the elements of a model of practice, including tenets, goals, strategies, and behaviors for addressing patients’ genetic concerns. Their discussion is summarized, training implications and research recommendations are presented, and a model of practice that extends their ideas is proposed.

Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors

Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents’ recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.

The relationship of nondirectiveness to genetic counseling: report of a workshop at the 2003 NSGC Annual Education Conference.

Nondirectiveness has been a guiding principle for genetic counseling since the founding of the profession. However, its efficacy and appropriateness in this role have been frequently questioned. A workshop at the 2003 Annual Education Conference of the National Society of Genetic Counselors provided audience participation in a discussion of these issues. Participants presented arguments for and against nondirectiveness as a central ethos. They described complex personal transitions in adapting what they had learned about nondirectiveness during training to the realities of the workplace. There was support for flexible approaches to genetic counseling, with varying adherence to nondirectiveness, based on client and family needs and values, clinical circumstances, and desired counseling outcomes. The discussion supports the use of clinical experience, outcomes research, and the experience of other professions to move beyond nondirectiveness and more accurately identify the theoretical bases that underlie genetic counseling in the variety of circumstances in which it is currently practiced.

Ethical and Professional Challenges Posed by Patients with Genetic Concerns: A Report of Focus Group Discussions with Genetic Counselors, Physicians, and Nurses

Ninety-seven physicians, nurses, and genetic counselors from four regions within the United States participated in focus groups to identify the types of ethical and professional challenges that arise when their patients have genetic concerns. Responses were taped and transcribed and then analyzed using the Hill et al. (1997, Counsel Psychol 25:517–522) Consensual Qualitative Research method of analysis. Sixteen major ethical and professional domains and 63 subcategories were identified. Major domains are informed consent; withholding information; facing uncertainty; resource allocation; value conflicts; directiveness/nondirectiveness; determining the primary patient; professional identity issues; emotional responses; diversity issues; confidentiality; attaining/maintaining proficiency; professional misconduct; discrimination; colleague error; and documentation. Implications for practitioners who deal with genetic issues and recommendations for additional research are given.

When You Care Enough to Do Your Very Best: Genetic Counselor Experiences of Compassion Fatigue

Compassion fatigue is a phenomenon that occurs when a caregiver feels overwhelmed by repeated empathic engagement with distressed clients (Figley, 2002). Research demonstrates its existence among nurses, physicians, and mental health professionals, but to date no published study has specifically investigated the nature and prevalence of compassion fatigue among genetic counselors. The present study was an initial attempt to identify and describe the phenomena in genetic counseling by conducting focus group interviews with 12 genetic counselors. Data analysis yielded several themes: a) compassion fatigue occurs and may compromise professional and personal functioning; b) prevalent triggers include delivering bad news and difficult patient issues (e.g., terminal illness, anger, psychopathology); c) effective coping strategies include consulting with colleagues, setting boundaries, and humor; and d) risk factors include personality characteristics and traumatic memories. Training, practice, and research recommendations are provided.

The Psychic Costs of Empathic Engagement: Personal and Demographic Predictors of Genetic Counselor Compassion Fatigue

Empathic connection with one’s patients is essential to genetic counselor clinical practice. However, repeatedly engaging with distressed patients may cause compassion fatigue, a phenomenon characterized as feeling overwhelmed by experiencing patients’ suffering. In order to extend findings of an initial qualitative study, we surveyed 222 genetic counselors about their compassion fatigue and factors that predict its occurrence. Multiple regression analysis identified seven significant predictors accounting for 53.7% of the variance in compassion fatigue. Respondents at higher risk of compassion fatigue were more likely to report being burned out, using self-criticism and giving up to manage stress, experiencing a greater variety of distressing clinical events, having larger patient caseloads, relying on religion as a coping strategy, having no children, and seeking support to manage stress. Respondents also provided critical incidents regarding their compassion fatigue and themes in these incidents are described. Practice and research recommendations are provided.

A Survey of Genetic Counselors' Strategies for Addressing Ethical and Professional Challenges in Practice

There is limited research about ethical and professional dilemmas that genetic counselors encounter in their practice and their strategies for addressing them. In this study, 454 genetic counselors rated the frequency with which they encounter each of 16 ethical/professional challenges identified and categorized previously (McCarthy Veach P, Bartels DM, LeRoy BS (2001) J Genet Couns 10(2):97–119). Over 40% indicated these issues occurred frequently: patient emotions, diversity, financial constraints, uncertainty, and colleague error. Two hundred and fifty-five respondents provided personal anecdotes describing exceptionally challenging situations and recommended strategies for addressing them. Most of their anecdotes involved informed consent, value conflicts, confidentiality, colleague error, withholding information, and resource allocation. The most frequently recommended strategies were further discussion with patient, consultation with other professionals, and referral to other health sources. Thirty-five respondents were unable to/did not offer strategies. Respondent demographics were not related to frequency of issues, type of anecdote, or recommended strategies. Practice, policy, and research implications are discussed.

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Genomic research results and incidental findings with health implications for a research participant are of potential interest not only to the participant, but also to the participants family. Yet investigators lack guidance on return of results to relatives, including after the participants death. In this paper, a national working group offers consensus analysis and recommendations, including an ethical framework to guide investigators in managing this challenging issue, before and after the participants death.