'It's much more grey than black and white': clinical geneticists' views on the oversight of consumer genomics in Europe.

Aim: Direct-to-consumer (DTC) genetic tests (GT) have created controversy regarding their risks and benefits. In view of recent regulatory developments, this article aims to explore the attitudes of European clinical geneticists toward the oversight of DTC GT. Materials & methods: Fifteen semi-structured interviews were performed with clinical geneticists based in ten European countries. The transcripts were thematically analysized in an iterative process. Results & conclusion: Respondents strongly supported quality standards for DTC GT equal to those applied within the healthcare setting. Despite participants unanimously considering the involvement of healthcare professionals to be important, mandatory medical supervision was controversial. In this regard, promoting education and truth-in-advertising was considered as being key in maintaining a balance between protecting consumers and promoting their autonomy.

Legal Considerations in Genetic Screening and Testing: Three Case Studies: ACOG Committee Opinion Summary, Number 805.

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.

Legal Considerations in Genetic Screening and Testing: Three Case Studies: ACOG Committee Opinion, Number 805.

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.

Legal Challenges in Genetics, Including Duty to Warn and Genetic Discrimination.

This review will explore two legal issues in genetic counseling: genetic discrimination and the duty to warn. It emphasizes the complexity and variability of federal and state genetic nondiscrimination protections in the United States and how the many gaps in such protections may affect people pursuing genetic testing. The limited law addressing legal obligations genetic counselors owe at-risk relatives likely does not require counselors to warn relatives directly about genetic risks. Whether it permits them to make such disclosures, however, is more uncertain and may depend on the jurisdiction.

Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives.

Preimplantation genetic testing (PGT) is a reproductive technology that, in the course of in vitro fertilization (IVF), allows prospective parents to select their future offspring based on genetic characteristics. PGT could be seen as an exercise of reproductive liberty, thus potentially raising significant socioethical and legal controversy. In this review, we examine-from a comparative perspective-variations in policy approaches to the regulation of PGT. We draw on a sample of 19 countries (Australia, Austria, Belgium, Brazil, Canada, China, France, Germany, India, Israel, Italy, Japan, Mexico, Netherlands, Singapore, South Korea, Switzerland, United Kingdom, and the United States) to provide a global landscape of the spectrum of policy and legislative approaches (e.g., restrictive to permissive, public vs. private models). We also explore central socioethical and policy issues and contentious applications, including permissibility criteria (e.g., medical necessity), nonmedical sex selection, and reproductive tourism. Finally, we further outline genetic counseling requirements across policy approaches.

Clinical application of genomic high-throughput data: Infrastructural, ethical, legal and psychosocial aspects.

Genomic high-throughput technologies (GHTT) such as next-generation sequencing represent a fast and cost-effective tool toward a more comprehensive understanding of the molecular background of complex diseases. However, technological advances contrast with insufficient application in clinical practice. Thus, patients, physicians, and other professionals are faced with tough challenges that forestall the efficient and effective implementation. With the increasing application of genetic testing, it is of paramount importance that physicians and other professionals in healthcare recognize the restrictions and potential of GHTT, in order to understand and interpret the complex data in the context of health and disease. At the same time, the growing volume and complexity of data is forever increasing the need for sustainable infrastructure and state-of-the-art tools for efficient data management, including their analysis and integration. The large pool of sensitive information remains difficult to interpret and fundamental questions spanning from billing to legal, social, and ethical issues have still not been resolved. Here we summarize and discuss these obstacles in an interdisciplinary context and suggest ways to overcome them. Continuous discussion with clinicians, data managers, biostatisticians, systems medicine experts, ethicists, legal scholars, and patients illuminates the strengths, weakness, and current practices in the pipeline from biomaterial to sequencing and data management. This discussion also highlights the new, cross-disciplinary working collaborations to realize the wide-ranging challenges in clinical genomics including the exceptional demands placed on the staff preparing and presenting the data, as well as the question as to how to report the data and results to patients.

Black Women's Confidence in the Genetic Information Nondiscrimination Act.

Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted to protect against this type of discrimination; however, Black women's levels of confidence in this law are unknown. In this descriptive study, we sought to (1) assess Black women's confidence in the GINA law and (2) identify multilevel factors related to their confidence in GINA. Ninety-four Black women at-risk of HBOC completed surveys that assessed intrapersonal, interpersonal, and structural factors. Multiple regression analysis determined factors associated with confidence in GINA. Most women were ≤50 years of age (66.0%) and about half never had a cancer diagnosis (51.1%). Confidence in GINA was moderate (mean = 10.67; standard deviation = 2.54; range = 5-15). Women who valued GCT reported more confidence in GINA (ß = 0.345; CI 0.017 to 0.673; p = 0.040). Lack of confidence in GINA may serve as a barrier to seeking GCT. Efforts to increase the perceived value of GCT among Black women could be benefited by increasing awareness of national efforts towards privacy protections of genetic information.

La vulneración de la autodeterminación informativa de los pacientes en patología genética. A propósito de la sentencia del Tribunal Superior de Justicia de Galicia de 10 de julio de 2019 / The vulneration of the patients informative self-determination in genetic pathology with regard to the decision of the Galicia High Court of Justice of 10 July 2019

En el presente trabajo abordaremos la sentencia del Tribunal Superior de Justicia de Galicia de 10 de julio de 2019. Se trata de un caso en el que se cuestionan los daños derivados de la ausencia de una genuina labor de consejo genético, en una paciente con una patología hereditaria. En nuestro comentario trataremos los argumentos de las partes, así como una aproximación crítica al análisis del Tribunal, y al uso generalizado de la institución jurídica de la "pérdida de oportunidad" como fundamento de la responsabilidad patrimonial de la Administración

In this paper, we will address the resolution of the Galician Superior Court, 10th July 2019. It deals with the damages coming from the lack of true genetic counselling, concerning a patient with a hereditary genetic disorder. In this piece, we will focus on the parties' arguments, and also with a critic approach to the Court analysis, regarding the general utilisation of the legal institution "loss of therapeutic chance" as a founding basis of the Administration liability

Cases in Precision Medicine: Concerns About Privacy and Discrimination After Genomic Sequencing.

Patients and research participants have indicated that privacy of their genetic test results is an important concern, particularly with respect to insurance coverage. Internists and other physicians whose patients ask about legal protections for information generated by genome sequencing for clinical purposes can provide both reassurance and caution. Protections for medical information in general, as well as laws in some states that provide additional safeguards for genetic data, should reassure patients that this information will remain private. Patients themselves will need to weigh the risks versus the benefits of generating genomic data in deciding whether to undergo exome sequencing.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.

Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

The use of genetic and genomic testing is becoming more widespread in healthcare and more inherited explanations for family history of diseases or conditions are being uncovered. Currently, relevant genetic information is not always used in the care of family members who might benefit from it, because of health professionals' fears of inappropriately breaching another family member's confidence. Such examples are likely to increase as testing possibilities expand. Here we present the case for use of familial information in the care and treatment of family members. We argue that whilst a clinical diagnosis in person A is confidential, the discovery of a familial factor that led to this diagnosis should be available for use in depersonalised form by health professionals to inform the testing and clinical care of other family members. The possibility of such use should be made clear in clinical practice at the time of initial testing, but should not require consent from the person in whom the familial factor was first identified. We call for further debate on these questions in the wake of high profile non-disclosure of genetic information cases, and forthcoming Data Protection legislation changes.

Reconsidering the duty to warn genetically at-risk relatives.

The duty to warn genetically at-risk relatives of patients is one of the most misunderstood legal and ethical issues affecting clinical genetics. The legal doctrines are often associated with three state appellate court cases beginning in the mid-1990s. Since the HIPAA Privacy Rule went into effect in 2003, the duty to warn must be accomplished by warning the patient of the genetic nature of a diagnosed disorder or genetic risk and the necessity of warning at-risk relatives. Health-care providers are neither required nor permitted to warn at-risk relatives without the consent of their patients. Having warnings issued by the patient most closely aligns with traditional ethical principles and the interests of the parties. Physicians and other health-care providers can assist their patients by preparing jargon-free explanations of the genetic risk and offering consultation or referral services. In the future, the need for warnings is less likely to be triggered by diagnoses and more likely to be based on predictive information derived from genome sequencing and other technologies and data sources.

Ethical issues in neurogenetics.

Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results. There can be disclosure concerns and challenges in determining whose autonomy to prioritize when a patient makes a genetic testing decision that can reveal the genetic status of a relative (e.g., testing an adult child when the at-risk parent has not been tested). Ethical issues are prominent when genetic testing for neurogenetic conditions is requested prenatally, on minors, adoptees, adult children at 25% risk, and for individuals with psychiatric issues or cognitive impairment. Neurogenetic conditions can result in cognitive decline which can affect decisional capacity and lead to ethical challenges with decision making, informed consent, and determining the patient's ability to comprehend test results. The ethical implications of genetic testing and emerging issues, including direct-to-consumer genetic testing, disclosure of secondary findings from genomic sequencing, and use of apolipoprotein E testing in clinical and research settings, are also discussed. Resources for information about genetic testing practice guidelines, insurance laws, and directories of genetics clinics are included.

Discusión ética y legal del asesoramiento genético en paciente portadora de una variación patológica en RAD51D / Ethical and legal discussion on genetic counselling in a carrier of a deleterious variation in RAD51D

En el campo de la genética del cáncer, los avances en innovación tecnológica han ayudado a detectar variaciones patogénicas con baja prevalencia en la población en genes que todavía están en investigación, lo que significa que todavía hay poca evidencia científica disponible sobre el riesgo que estas variaciones podrían conllevar en cuanto a la susceptibilidad de desarrollar cáncer. La difícil tarea de asesorar genéticamente e informar del seguimiento, detección precoz y acciones profilácticas de estos casos, como el aquí expuesto, conlleva importantes implicaciones desde el punto de vista ético y legal sobre las que hay muy poco descrito en la literatura (AU)

In the field of the genetics of the cancer, advances in technological innovation have helped to detect low prevalence deleterious variation in genes within the population that still are under investigation. This means that little scientific evidence is available concerning the risk that these variations might constitute as regards the susceptibility of developing cancer. The difficult task of genetically assessing and reporting on the early detection, the prophylactic actions, and follow-up of these cases, as detailed herein, has important implications from an ethical and legal point of view, but hardly anything about them has been discussed in the literature (AU)