Regulating Direct-to-Consumer Polygenic Risk Scores.

This Viewpoint discusses the possible harms associated with direct-to-consumer polygenic risk scores and advocates for federal regulation.

Regulating forensic genetic genealogy.

Maryland 's new law provides a model for others.

PARC report: a perspective on the state of clinical pharmacogenomics testing.

In this Perspective, the authors discuss the state of pharmacogenomics testing addressing a number of advances, challenges and barriers, including legal ramifications, changes to the regulatory landscape, coverage of testing and the implications of direct-to-consumer genetic testing on the provision of care to patients. Patient attitudes toward pharmacogenomics testing and associated costs will play an increasingly important role in test acquisition and subsequent utilization in a clinical setting. Additional key steps needed include: further research trials demonstrating clinical utility and cost-effectiveness of pharmacogenetic testing, evidence review to better integrate genomic information into clinical practice guidelines in target therapeutic areas to help providers identify patients that may benefit from pharmacogenetic testing and engagement with payers to create a path to reimbursement for pharmacogenetic tests that currently have sufficient evidence of clinical utility. Increased adoption of testing by payers and improved reimbursement practices will be needed to overcome barriers, especially as the healthcare landscape continues to shift toward a system of value-based care.

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies.

Direct-to-consumer (DTC) commercial companies offer genetic tests that are presented as allowing individuals the opportunity to increase their capacities to be in charge of their own healthcare managements. DTC companies deny performing medical tests, yet they provide data based on sequencing multigene panel or whole exome. This contradiction allows these companies to escape the requirements of a regulated medical practice that guarantees the quality of the tests, as well as the information and support for tested individuals. Herein, we illustrate the lack of such requirements by analysing the bad experience of a young man who dealt with DTC health genetic testing companies. There is an emergency for DTC testing to be either deprived of any medically relevant information, or carried out in a legally regulated medical framework.

The Future of DTC Genomics and the Law.

Direct-to-Consumer ("DTC") genomics has been a controversial topic for over a decade. Much work has been done on the legal issues it raises. This article asks a different question: What will DTC genomics and its legal issues look like in ten to twenty years? After discussing the five current uses of DTC genomics, it describes three current legal issues: medical uses, privacy of genomic information, and privacy in collection and analysis of human DNA. It then suggests that changes in human genomics and how it is used will make the first of those DTC genomics legal issues less important in the future, but that the third will be increasingly significant.

Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.

Human genomics is a translational field spanning research, clinical care, public health, and direct-to-consumer testing. However, law differs across these domains on issues including liability, consent, promoting quality of analysis and interpretation, and safeguarding privacy. Genomic activities crossing domains can thus encounter confusion and conflicts among these approaches. This paper suggests how to resolve these conflicts while protecting the rights and interests of individuals sequenced. Translational genomics requires this more translational approach to law.

'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.

Review of policies of companies and databases regarding access to customers' genealogy data for law enforcement purposes.

The rapidly evolving popularity of direct-to-consumer genetic genealogy companies has made it possible to retrieve genomic information for unintended reasons by third parties, including the emerging use for law enforcement purposes. The question remains whether users of direct-to-consumer genetic genealogy companies and genealogical databases are aware that their genetic and/or genealogical data could be used as means to solving forensic cases. Our review of 22 companies' and databases' policies showed that only four companies have provided additional information on how law enforcement agencies should request permission to use their services for law enforcement purposes. Moreover, two databases have adopted a different approach by providing a special service for law enforcement. Although all companies and databases included in the study provide at least some provisions about police access, there is an ongoing debate over the ethics of these practices, and how to balance users' privacy with law enforcement requests.

[Direct-to-consumer genetic testing: a regulation by the market, or a medical regulation?] / Les tests génétiques en libre accès - Régulation par le marché, ou régulation médicale ?

The direct-to-consumer genetic testing (DTC-GT) market has been developing for about twenty years now, raising various debates, even controversies. But what about the regulation of these so-called "innovative" devices, but whose medical status is ambiguous? A first regulatory aspect is depending on the market itself, since the latter is currently subjected to a strong structuring process. A second regulatory aspect, more classical, is the legal one. While the DTC-GT status has long been unclear on European scale, a new text (a Regulation, not a Directive) is modifying the situation. It encourages regulation "by the market" rather than "by the medical profession", which does not imply that the latter will have no (indirect) impact on the DTC-GT market.

TITLE: Les tests génétiques en libre accès - Régulation par le marché, ou régulation médicale ? ABSTRACT: Le marché des auto-tests génétiques se développe depuis une vingtaine d'années, non sans soulever des débats, voire des controverses. Qu'en est-il de la régulation de ces dispositifs dits « innovants ¼, mais dont le statut médical est ambigu ? Un premier aspect régulatoire vient du marché lui-même, puisqu'il est en cours de forte structuration. Un second aspect régulatoire relève plus classiquement du juridique. Alors que le statut des auto-tests a longtemps manqué de clarté à l'échelle européenne, un nouveau texte (un Règlement, et non une Directive) change la situation. Il encourage une régulation « par le marché ¼, plutôt que « par la profession médicale ¼, ce qui n'implique pas que cette dernière n'aura aucun impact (indirect) sur le marché des auto-tests.

Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan.

INTRODUCTION: The 'one biomarker/one drug' scenario is unsustainable because cancer is a complex disorder that involves a number of molecular defects. In the past decade, major technological advances have lowered the overall cost and increased the efficiency of next-generation sequencing (NGS). AREAS COVERED: We review recent regulations on NGS and complementary diagnostics in Japan, mainly focusing on high-quality studies that utilized these new diagnostic modalities and were published within the last 5 years. We highlight significant changes in regulation, and explain the direction of efforts to translate the results of NGS and complementary diagnostics into clinical practice. EXPERT OPINION: NGS holds a number of advantages over conventional companion and complementary diagnostics that enable simultaneous analyzes of multiple cancer genes to detect actionable mutations. Parallel technological developments and regulatory changes have led to the rapid adoption of NGS into clinical practice. NGS-based genomic data have been leveraged to better understand the characteristics of a disease that affects its patient's response to a given therapy. As NGS-based tests become more widespread, however, Japanese authorities will face significant challenges particularly with respect to the complexity of genomic data, which will have to be managed if NGS is to benefit patients.

[Patient-initiated diagnostics - a challenge for laboratory medicine]. / Egenordinerad provtagning kan ge laboratoriemedicinen ny roll.

Citizens can now order their own laboratory investigations. Self-testing is in line with increasing patient empowerment and in conflict with existing routines in medicine where all tests are ordered by the physician. Several challenges have to be faced by laboratory medicine to secure the quality and increase the medical benefits of patient-initiated diagnostics.

Informe sobre el marco legal de comercialización y uso de los Test Genéticos Directos al Consumidor en España / Legislation on direct-to-consumer genetic testing in Spain

Los Test Genéticos Directos al Consumidor (TGDC) han aparecido en el mercado en las dos últimas décadas como consecuencia del desarrollo de la terapia genética y en respuesta a las nuevas posibilidades de hacer frente a las enfermedades desde la opción de su predicción. El término "análisis genéticos directos al consumidor" se ha generalizado utilizándose para describir servicios analíticos que se ofertan para detectar polimorfismos y variaciones genéticas relacionadas con la salud. El procedimiento habitual de uso consiste en la toma de una muestra biológica a nivel domiciliario, la cual es enviada al laboratorio comercializador para ser analizada. Los resultados del análisis del laboratorio se comunican al sujeto por vía telefónica, por correo postal o electrónico, o bien a través de un acceso seguro a un portal de internet. Los TGDC tienen el valor de poder predecir que se pueda desarrollar una enfermedad y poder frenar su aparición mediante hábitos de vida concretos, elementos nutricionales o de otro tipo. Es una realidad que el ámbito preventivo de la genética es fundamental para que una persona no desarrolle una enfermedad a la que puede tener genéticamente predisposición y que con medidas preventivas puede evitarse. La venta de los TGDC se realiza mayoritariamente a través de internet y resulta necesaria una regulación específica que contemple sus características en cuanto a su finalidad y régimen de comercialización res-pecto a los distintos tipos de análisis genéticos con objeto de que su uso se haga con unas garantías éticas, jurídicas y sociales mínimas para el consumidor

The Direct-to-Consumer Genetic Testing (TGDC) has appeared in the market in the last two decades as a consequence of the development of genetic therapy and in response to the new possibilities of facing diseases from the option of their prediction. The TGDC has been generalized to describe analytical services that are offered to detect polymorphisms and genetic variations related to health. The TGDC includes any type of genetic analysis available to people outside a healthcare context, including genetic analyzes related to lifestyle, which would provide recommendations about diet or daily life (sports, etc.). The usual procedure of use consists in taking a biological sample at home, which is sent to the commercialization laboratory to be analyzed. The results of the laboratory analysis are communicated to the subject by telephone, by postal or electronic mail, or through secure access to an Internet portal. The TGDC have the value of being able to predict that a disease can develop and, therefore, be able to stop their appearance by means of specific life habits, nutritional or other elements that contribute to slowing down their appearance or even preventing their appearance. It is a reality that the preventive field of genetics is fundamental for a person not to develop a cancer or any other type of disease to which he may have a genetic predisposition and with preventive measures can be avoided. At the present time when they are being marketed mainly through the internet, a specific regulation is necessary that contemplates their characteristics in terms of their purpose and marketing regime with respect to the different types of genetic analysis in order that their use is done with minimum ethical, legal and social guarantees for the consumer