Patient-focused pathogen genetic counselling-has the time come?

Ensuring accordance with principles of healthcare ethics requires improved communication of pathogen genomic data. This could include educating healthcare professionals in communicating pathogen genomic information to individuals, developing ethical frameworks for reporting pathogen genomic results to individuals, responsible media reporting guidelines, and counselling for individuals ('pathogen genetic counselling').

Project Inclusive Genetics: Exploring the impact of patient-centered counseling training on physical disability bias in the prenatal setting.

PURPOSE: There is robust research examining the negative impact of racial and socioeconomic implicit bias on healthcare provider clinical decision-making. However, other under-studied important biases are likely to impact clinical care as well. The goal of this study was to explore the presence of bias against people with physical disability among a heterogeneous group of healthcare workers and trainees and to evaluate the effect of implicit association testing and an educational module on this bias. METHOD: The study was composed of a one-hour web-based survey and educational module. The survey included an explicit disability bias assessment, disability Implicit Association Tests (IATs), demographic collection, and pre- and post- module clinical vignettes of prenatal patient scenarios. In addition to providing counseling to hypothetical patients, participants also indicated their personal preferences on genetic testing and termination. The educational module focused on the principles of patient-centered counseling. RESULTS: The collected data reflects responses from 335 participants. Within this sample, there were both explicit and implicit biases towards individuals with physical disabilities. Prior to the IAT and educational module, when respondents were tasked with providing genetic testing recommendations, implicit biases and personal preferences for genetic testing and termination influenced respondents' clinical recommendations. Importantly, having previous professional experience with individuals with disabilities diminished biased clinical recommendations prior to the intervention. In response to the IAT and educational intervention, the effect of implicit bias and personal preferences on clinical recommendations decreased. CONCLUSIONS: This study demonstrates how bias against a marginalized group exists within the medical community and that personal opinions can impact clinical counseling. Importantly, our findings suggest that there are strategies that can be easily implemented into curricula to address disability bias, including formal educational interventions and the addition of professional experiences into healthcare professional training programs.

Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.

Síndrome de Peutz-Jeghers, telangiectasias y prolapso de la válvula mitral. Presentación de caso y asesoramiento genético / Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)

Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)

The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of patient education videos.

OBJECTIVES: Genetic testing (GT) companies have developed patient education videos to supplement or replace pre-test genetic counseling (GC) by certified genetic counselors (CGC). The aim of this study was to assess the quality of these videos compared to the standard of care (SOC). METHODS: Videos from four major GT companies were selected from an internet search identifying pre-test patient education videos. A scoring rubric with 22 questions and 36 total points was devised to assess quality metrics, as described by the National Cancer Institute and National Society of Genetic Counselors. Twenty-two individuals with varying genetics expertise (3 gynecologic oncologists, 3 academic generalists, 4 CGC, a genetics community health worker, 3 cancer care navigators, and 8 medical students) scored each video. Scorers were blinded to others' assessments. RESULTS: Invitae had the highest median score (26/36), followed by Myriad (22/36), Ambry (17.5/36), and Color (15/36). All videos scored highly in explaining DNA basics, cancer development, and hereditary cancer predisposition. All addressed benefits of GT but failed to address potential disadvantages. All scored poorly in explaining medical terms and different GT options. There was variability in addressing patient concerns including cost, privacy, and procedure. CONCLUSIONS: There is significant variation in the content of pre-test patient education videos between GT companies. None of the videos met the SOC for pre-test GC, and none addressed disadvantages of GT, possibly due to a conflict of interest. With improvement in content, accessibility, and use of interactive platforms, these videos may serve as an adjunct to in-person pre-test GC.

Participant mothers' attitudes toward genetic analysis in a birth cohort study.

To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis and associated background factors among mothers who were enrolled in a large Japanese birth cohort. A questionnaire was sent to participants' households, and the responses of 1762 mothers (34.0%) were used for the study. The majority of mothers recognized genetic analysis for themselves and their children and sharing of genetic data as beneficial. A low knowledge level of genomic terminology was associated with ambiguous attitudes toward genetic analysis and data sharing. Education level was positively associated with the recognition of the benefits of genetic analysis. Concern about handling genetic information was associated with the unacceptability of data sharing. Trust was associated with the approval of genetic analysis. Most mothers preferred that genetic analysis results be returned. These findings suggest the need for multiple efforts to maximize participants' acceptance of genetic analysis, such as utilizing an educational approach to encourage familiarity with genetics/genomics, optimizing explanations for different educational levels, and explicitly disclosing the handling policy for genetic information.

Re-examining the Ethics of Genetic Counselling in the Genomic Era.

Respect for patient autonomy has served as the dominant ethical principle of genetic counselling, but as we move into a genomic era, it is time to actively re-examine the role that this principle plays in genetic counselling practice. In this paper, we argue that the field of genetic counselling should move away from its emphasis on patient autonomy and toward the incorporation of a more balanced set of principles that allows counsellors to offer clear guidance about how best to obtain or use genetic information. We begin with a brief history of how respect for patient autonomy gained such emphasis in the field and how it has taken on various manifestations over time, including the problematic concept of nondirectiveness. After acknowledging the field's preliminary move away from nondirectiveness, we turn to a series of arguments about why the continued dominance of patient autonomy has become untenable given the arrival of the genomic era. To conclude, we describe how a more complete set of bioethical principles can be adapted and used by genetic counsellors to strengthen their practice without undermining patient autonomy.

Ubuntu philosophy and the consensus regarding incidental findings in genomic research: a heuristic approach.

This study adopts a heuristic technique to argue the thesis that a set of norms rooted in the African philosophy of Ubuntu can usefully supplement current research guidelines for dealing with incidental findings discovered in genomic research. The consensus regarding incidental findings is that there is an ethical obligation to return individual genetic incidental findings that meet the threshold of analytic and clinical validity, have clinical utility, and are actionable, provided that research contributors have not opted out from receiving such information. This study outlines the hurdles that may hinder the integration of this consensus in mainstream clinical practice, and shows how an ethical theory from the global south may be used to address the same. This will advance the field of ethical, legal and social issues of personalized medicine by providing exposure to the under-represented African perspective on the ethical, legal, and social issues of genomics.

Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing.

Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.

At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants.

Whether individual results of genetic research studies ought to be disclosed to study participants has been debated in recent decades. Previously, the prevailing expert view discouraged the return of individual research results to participants because of the potential lack of analytic validity, questionable clinical validity and medical actionability, and questions about whether it is the role of research to provide participants with their data. With additional knowledge of participant perspectives and shifting views about the benefits of research and respect for participants, current expert consensus is moving toward support of returning such results. Significant ethical controversies remain, and there are many practical questions left to address, including appropriate procedures for returning results and the potential burden to clinicians when patients seek guidance about the clinical implications of research results. In this review, we describe current views regarding the return of genetic research results, including controversies and practical challenges, and consider the application of these issues to research on apolipoprotein L1 (APOL1), a gene recently associated with health disparities in kidney disease. Although this case is unique, it illustrates the complexities involved in returning results and highlights remaining questions.

Ethical and professional challenges encountered by Japanese healthcare professionals who provide genetic counseling services.

It is important to identify ethical and professional challenges associated with genetic counseling services and systems to improve these services. In previous studies, specific challenges in genetic counseling were categorized into 16 domains. However, these studies were limited to a few countries, and genetic counseling differs according to national cultures or systems. Thus, additional efforts should be made to collect and analyze challenges in genetic counseling to address these issues. We interviewed 48 genetic counseling professionals in Japan (including 29 clinical geneticists, 17 genetic counselors, and 2 other professionals) about anecdotes that included ethical professional challenges. Thematic analysis was used to code the interview data, and anecdotes were categorized according to the ethical and professional challenges. The anecdotes (n = 333) were classified into the 16 previously identified domains and three unique subcategories: 'lack of understanding about genetic professionals or departments of genetic counseling by other professionals and patients', 'insufficient communication skills to carry out counseling on the part of the genetic counseling professionals', and 'lack of a system for self-improvement'. Many of the anecdotes also noted the emotional responses domain. The challenges experienced by Japanese genetic counseling professionals described herein will improve the quality of the service these professionals provide. Furthermore, the results can assist development of high-quality genetic counseling systems in countries developing these systems.

Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine.

Consistently, the field of genetic counseling has advocated that parents be advised to defer elective genetic testing of minors until adulthood to prevent a range of potential harms, including stigma, discrimination, and the loss of the child's ability to decide for him- or herself as an adult. However, consensus around the policy of "defer-when-possible" obscures the extent to which this norm is currently under siege. Increasingly, routine use of full or partial genome sequencing challenges our ability to control what is discovered in childhood or, when applied in a prenatal context, even before birth. The expansion of consumer-initiated genetic testing services challenges our ability to restrict what is available to minors. As the barriers to access crumble, medical professionals should proceed with caution, bearing in mind potential risks and continuing to assess the impact of genetic testing on this vulnerable population.

Birds of a Feather? Genetic Counseling, Genetic Testing, and Humanism.

Humanism is a philosophy that emphasizes rational, scientific, and empiric analysis of the world we live in to improve the physical, social, and psychological life of humanity. Although individual genetic counselors may or may not identify as humanists, genetic counseling and genetic testing are primarily humanistic endeavors because they are situated in the context of humanistic medicine in the westernized world. Humanistic goals are also implicit and explicit in the profession and practice of genetic counselors. This review examines the relationship between humanism and genetic counseling, highlighting situations in which the two may be discordant, and suggests ways that genetic counselors can reconcile these discordances.

Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.

Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the gold standard for genetic counseling for these diseases. Yet, advances in genomic technology have produced an abundance of new information about the genetics of diseases such as Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. The resulting expansion of genetic tests together with the availability of direct-to-consumer testing and clinical trials for treatment of these diseases present new ethical and practical issues requiring modifications to the protocol for HD counseling and new demands on both physicians and genetic counselors. This work reviews the history of genetic counseling for neurodegenerative diseases, its current practice, and the future direction of genetic counseling for these conditions.

Video-recording complex health interactions in a diverse setting: Ethical dilemmas, reflections and recommendations.

Video-recording healthcare interactions provides important opportunities for research and service improvement. However, this method brings about tensions, especially when recording sensitive topics. Subsequent reflection may compel the researcher to engage in ethical and moral deliberations. This paper presents experiences from a South African genetic counselling study which made use of video-recordings to understand communicative processes in routine practice. Video-recording as a research method, as well as contextual and process considerations are discussed, such as researching one's own field, issues of trust and anonymity, the challenge of providing true informed consent and capturing details which may cause psychological harm. Several recommendations for research practice in diverse healthcare settings are made. This includes the value of reflective pieces, the importance of retrospective consent, disclosure of the limitations to anonymity, as well as the collective responsibility of those involved to produce ethical research. These recommendations have value for genetic counselling and other healthcare fields.

Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach.

Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray (CMA), a technique that can uncover both aneuploidies and copy number variants throughout the genome. Despite the obvious benefits of CMA, the decision on implementing the technology is complicated by ethical issues concerning variant interpretation and reporting. In Belgium, uniform guidelines were composed and a shared database for prenatal CMA findings was established. This Belgian approach sparks discussion: it is evidence-based, prevents inconsistencies and avoids parental anxiety, but can be considered paternalistic. Here, we reflect on the cultural and moral bases of the Belgian reporting system of prenatally detected variants.