Clinician perspectives on policy approaches to genetic risk disclosure in families.

Genomic sequencing has emerged as a powerful tool with significant implications for patients and their relatives, however, empirical evidence suggests that effective dissemination of risk information within families remains a challenge. Policy responses to address this issue vary across countries, with Belgium notably lacking specific regulations governing nondisclosure of genetic risk. In this study, we conducted semi-structured interviews with clinicians from Belgian clinical genetics centers to gain insight into their perspectives on policy approaches to the disclosure of genetic risk within families. Using real-world examples of legislation and court rulings from France, Australia, and the UK, we explored clinician viewpoints on the roles and responsibilities of both patients and clinicians in the family communication process. Clinicians expressed confusion regarding what was legally permissible regarding contacting at-risk relatives. While there was a consensus among participants that patients have a responsibility to inform their at-risk relatives, participants were hesitant to support the legal enforcement of this duty. Clinicians mostly recognized some responsibility to at-risk relatives, but the extent of this responsibility was a subject of division. Our findings highlight the need for a comprehensive policy that clarifies the roles and responsibilities of clinicians and patients to inform at-risk relatives. Furthermore, the study underscores the practical challenges clinicians face in supporting patients through the complex process of family communication, suggesting a need for additional resources and the exploration of alternative approaches to communication.

Genetic health professionals' experiences with initiating reanalysis of genomic sequence data.

Despite the increased diagnostic yield associated with genomic sequencing (GS), a sizable proportion of patients do not receive a genetic diagnosis at the time of the initial GS analysis. Systematic data reanalysis leads to considerable increases in genetic diagnosis rates yet is time intensive and leads to questions of feasibility. Few policies address whether laboratories have a duty to reanalyse and it is unclear how this impacts clinical practice. To address this, we interviewed 31 genetic health professionals (GHPs) across Europe, Australia and Canada about their experiences with data reanalysis and variant reinterpretation practices after requesting GS for their patients. GHPs described a range of processes required to initiate reanalysis of GS data for their patients and often practices involved a combination of reanalysis initiation methods. The most common mechanism for reanalysis was a patient-initiated model, where they instruct patients to return to the genetic service for clinical reassessment after a period of time or if new information comes to light. Yet several GHPs expressed concerns about patients' inabilities to understand the need to return to trigger reanalysis, or advocate for themselves, which may exacerbate health inequities. Regardless of the reanalysis initiation model that a genetic service adopts, patients' and clinicians' roles and responsibilities need to be clearly outlined so patients do not miss the opportunity to receive ongoing information about their genetic diagnosis. This requires consensus on the delineation of these roles for clinicians and laboratories to ensure clear pathways for reanalysis and reinterpretation to be performed to improve patient care.

Anti-doping research and the Helsinki Declaration: (mis)match?

The fight against doping in sport is internationally coordinated by the World Anti-Doping Agency (WADA). Through its World Anti-Doping Code, WADA aims to harmonize anti-doping policies, rules and regulations. One key reference document bound to the Code is the International Standard for Laboratories (ISL), which mainly specifies the criteria that must be met for laboratory accreditation, as well as standards to adopt for the production of valid test results and evidentiary data. Within the ISL, the Code of Ethics refers to the Helsinki Declaration as a guiding framework for anti-doping research. However, inasmuch as anti-doping research structurally differs from human subject research as considered by the Helsinki Declaration, the applicability of the latter to anti-doping research can be called into question. In this work, we discuss how key principles of the Helsinki Declaration apply to anti-doping research and highlight frictions, incompatibilities and misalignments. Furthermore, we indicate possible solutions for operationalizing the Helsinki principles within the context of anti-doping research.

A systematic analysis of online marketing materials used by providers of expanded carrier screening.

PURPOSE: Expanded carrier screening (ECS) for a large number of recessive disorders is available to prospective parents through commercial providers. This study aimed to analyze the content of marketing materials on ECS providers' websites. METHODS: To identify providers of ECS tests, we undertook a comprehensive online search, reviewed recent academic literature on commercial carrier screening, and consulted with colleagues familiar with the current ECS landscape. The identified websites were archived in April 2017, and inductive content analysis was performed on website text, brochures and educational materials, and video transcripts. RESULTS: We identified 18 ECS providers, including 16 commercial genetic testing companies. Providers typically described ECS as an important family planning tool. The content differed in both the tone used to promote ECS and the accuracy and completeness of the test information provided. We found that most providers offered complimentary genetic counseling to their consumers, although this was often optional, limited to the posttest context, and, in some cases, appeared to be available only to test-positive individuals. CONCLUSION: The quality of ECS providers' websites could be improved by offering more complete and accurate information about ECS and their tests. Providers should also ensure that all carrier couples receive posttest genetic counseling to inform their subsequent reproductive decision making.

Expanded carrier screening for monogenic disorders: where are we now?

BACKGROUND: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a comprehensive overview of the characteristics of currently available ECS tests. METHODS: To identify relevant ECS providers, we employed a multi-step approach, which included online searching, review of the recent literature, and consultations with researchers familiar with the current landscape of ECS. RESULTS: As of January 2017, there were 16 providers of ECS tests: 13 commercial companies, 2 medical hospitals, and 1 academic diagnostic laboratory. We observed drastic differences in the characteristics of ECS tests, with the number of conditions ranging from 41 to 1792. Only three conditions (cystic fibrosis, maple syrup urine disease 1b, and Niemann-Pick disease) were screened for by all providers. Where the same disease gene was included by multiple providers, substantial differences existed in the mutations screened and/or variant interpretation/reporting strategies. CONCLUSION: Given the importance of carrier screening results in reproductive decision-making, the observed heterogeneity across ECS panels is concerning. Efforts should be made to ensure that clear and concrete criteria are in place to guide the development of ECS panels. © 2017 John Wiley & Sons, Ltd.

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

BACKGROUND: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice. METHODS: We conducted semi-structured interviews with sixteen European clinical and molecular geneticists with expertise in carrier screening to explore their views on the implementation of ECS in the clinical setting. RESULTS: Using inductive content analysis, we identified content categories relevant to the pre- and post-test settings. Participants believed ECS would ideally be targeted at couples before pregnancy. There was some disagreement regarding the acceptability of performing ECS in individuals, with several participants actively opposing individual-based screening. In addition, participants discussed the importance of ensuring informed and voluntary participation in ECS, recommending measures to minimize external pressure on prospective parents to undergo testing. A need for adequate counseling to foster informed, autonomous reproductive decision-making and provide support for couples found to be at risk was emphasized. CONCLUSIONS: Practical challenges in optimizing pre-test education and post-test counseling should not be underestimated and they should be carefully addressed before implementing ECS in the clinical setting.

Newspaper coverage of human-pig chimera research: A qualitative study on select media coverage of scientific breakthrough.

BACKGROUND: A recently published article in the journal Cell by scientists from the Salk Institute highlighted the successful integration of stem cells from humans in pig embryos. This marks the first step toward the goal of growing human organs in animals for transplantation. There has, to date, been no research performed on the presentation of this breakthrough in the media. We thus assessed early newspaper coverage of the chimera study, looking into the descriptions as well as the benefits and concerns raised by the study mentioned by newspaper sources. METHODS: We looked at newspaper coverage of the human-pig chimera study in the two weeks after the publication of the article describing the breakthrough in Cell. This time period spanned from January 26 to February 9, 2017. We used the LexisNexis Academic database and identified articles using the search string "hybrid OR chimera AND pig OR human OR embryo." The relevant articles were analyzed using qualitative content analysis. Two researchers openly coded the articles independently using themes that emerged from the raw texts. RESULTS: Our search yielded 31 unique articles, after extensive screening for relevance and duplicates. Through our analysis, we were able to identify several themes in a majority of the texts. Almost every article gave descriptive information about the chimera experiment with details about the study findings. All of the articles mentioned the benefits of the study, citing both immediate- and long-term goals, which included creating transplantable human organs, disease and drug development, and personalized medicine, among others. Some of the articles highlighted some ethical, social, and health concerns that the study and its future implications pose. Many of the articles also offered reassurances over the concerns brought up by the experiment. CONCLUSIONS: Our results appeared to align with similar research performed on the media representation of sensitive scientific news coverage. We also explored the inconsistency between the tone of the titles and the articles that followed. However, it is still too early to speculate what impact the media will play in the public perception of this particular research.

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Caucasians. As most CF patients have no family history of the disorder, carrier screening for CF has the potential to prospectively identify couples at risk of conceiving an affected child. At-risk couples may consequently choose to act on the provided information and take steps to avoid the birth of a child with CF. Although carrier screening is widely believed to enhance reproductive autonomy of prospective parents, the practice also raises important ethical questions. A written questionnaire was administered to adult patients and parents of children with CF with the aim to explore participants' attitudes toward CF carrier screening and related reproductive issues. The study population was recruited from a CF patient registry in Belgium and comprised 111 participants (64 parents, 47 patients aged 16 or older). We found that more than 80% of all participants were in favor of preconception carrier screening for CF. However, some were concerned over potential negative consequences of population-wide CF carrier screening. Regarding future reproductive intentions, 43% of the participants indicated a desire to have children. Among these, preimplantation genetic diagnosis was found to be the most preferred reproductive option, closely followed by spontaneous pregnancy and prenatal diagnosis. Although the findings of our study suggest that patients and parents of children with CF support a population-based carrier screening program for CF, they also highlight some issues deserving particular attention when implementing such a program.

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status.

BACKGROUND: An increasing number of direct-to-consumer (DTC) genetic testing companies have started offering tests for carrier status of autosomal recessive disorders. MATERIALS & METHODS: A written questionnaire was administered to 47 patients and 65 parents of children with Cystic Fibrosis (CF), a common severe autosomal recessive disorder, to assess their views about the offer of DTC carrier tests. All participants were recruited from a CF patient registry in Belgium. RESULTS & CONCLUSION: We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier status, and were generally skeptical. A strong preference for the healthcare system over commercial companies as the provider of the test was observed. However, many participants believe people should have a right to access DTC genetic tests provided by commercial companies.

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications.

Genetics and genomics have developed fast in the last decade, but have not revolutionized medicine, as some had expected. While translation of research findings to public health applications is lagging behind, direct-to-consumer (DTC) offers of genetic testing have become available, both for monogenic and severe genetic disorders and for genetic variants possibly associated with common complex diseases (susceptibility variants). The European Society of Human Genetics is concerned about the way in which commercial companies are currently introducing genetic tests into the market outside of the scope of the traditional health-care system. There is a sort of a paradox between the lagging implementation in health care of the few genetic tests with proven clinical utility, on the one hand, and the speedy DTC offer of tests, with or without clinical utility. To translate research findings into appropriate clinical applications, assessment of the clinical validity and utility is needed. Many of the parameters needed in assessment frameworks are not available yet. Clinically relevant associations between genetic variants and disease risks have been established, e.g., in oncogenetics and cardiogenetics, and can be used to reflect on the possibilities and obstacles in using the new genetics in public health. In the absence of sufficient information on clinical validity and clinical utility, introduction of genetic tests in common complex disorders is often premature. Priority should be given to settings where clinical utility is proven or likely, to gain additional information concerning diagnosis, prognosis, and disease management. Monitoring and evaluation are essential.

Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors.

More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with respect to this issue. Of the 29 companies analyzed, 13 did not provide any information about this matter, eight companies allowed genetic testing upon parental request, four companies stated that their website is not directed to children under 18 years, and four companies suggested that in order to be tested, applicants should have reached the age of legal majority. If private companies offer genetic tests which are also offered in a clinical setting, can they be expected to adhere to the existing clinical guidelines with regard to these tests? If so, a certain ambiguity exists. Many companies are emphasizing in their disclaimers that their services are not medical services and should not be used as a basis for making medical decisions. Nonetheless, it remains debatable whether genetic testing in minors would be appropriate in this context. In line with the Advisory Committee on Genetic Testing, the Human Genetics Commission addressed the problem of non-consensual testing and recommended not to supply genetic testing services directly to those under the age of 16 or to those not able to make a competent decision regarding testing.

Attitudes towards predictive genetic testing in minors for familial breast cancer: a systematic review.

OBJECTIVES: The objective of this article is to review the attitudes of different stakeholders (minors, parents, healthcare professionals, and relatives of affected individuals) towards predictive genetic testing of minors for familial breast cancer. DESIGN: The databases PubMed, Google Scholar, Psychinfo, Biological Abstracts, Francis, Anthropological Index online, Web of Science, and Sociological Abstracts were searched using relevant key words; literature indexed up to May 2006 was considered. Studies were included if they were published in a peer-reviewed journal written in English and if they described the attitudes of the different stakeholders towards predictive genetic testing of minors for familial breast cancer. The results are presented in a summary form. RESULTS: A total of 14 studies were included. The studies were very heterogeneous, using a variety of study populations, study designs, sample sizes, and study measures. Substantial proportions of adolescents were interested in learning whether they were at risk for familial breast cancer. The attitudes of healthcare professionals about testing minors diverged. CONCLUSION: Our review has made clear that many respondents fail to understand potential risks related to predictive genetic testing in minors. Respondents might have overly positive expectations about possibilities for genetic testing. This emphasizes the need for genetic education and counselling about genetic testing in minors.

Consentimiento informado en niños y jóvenes. Una introducción / Informed Consent in children and young people. An Introduction

Se pretende aquí dar un vistazo general a los aspectos éticos del examen y manejo de los menores en relación a su participación en la toma de decisiones : se abordan los aspectos de mayor interés, consentimiento y rechazo en cuanto a brindar servicios de salud a niños y adolescentes. Por consiguiente se discutirá más precisamente la situación controversial en la que se presenta un choque de opiniones acerca del tratamiento en menores como por ejemplo el hacérles exámenes médicos. Finalmente se aborda el tópico del consentimiento en el contexto de la investigación clínica.