Corrigendum: Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility.

[This corrects the article DOI: 10.3389/fgene.2021.

Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility.

Children with rare and common diseases now undergo whole genome sequencing (WGS) in clinical and research contexts. Parents sometimes request access to their child's raw genomic data, to pursue their own analyses or for onward sharing with health professionals and researchers. These requests raise legal, ethical, and practical issues for professionals and parents alike.

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.

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients.

Despite widespread use of genomic sequencing (GS) in clinical care, there has been little exploration of actual experiences of genetic health professionals (GHPs) using GS in clinical practice worldwide. To address this, semi-structured interviews were conducted with 31 clinical geneticists and genetic counselors across Europe, Australia, and Canada to explore their experiences with returning results from GS to patients. GHPs remarked that patients' reactions to receiving causative results vary; some patients are relieved or appreciative at identification of a genetic cause, while others express frustration that finding an answer does not lead to a treatment.

Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing.

Like any new technology, rapid integration of genomic sequencing (GS) into the clinical setting can pose challenges for genetic health professionals (GHPs) using it to diagnose patients. We conducted semi-structured interviews with 31 clinical geneticists and genetic counsellors across Europe, Australia and Canada to gain a better understanding of the issues they were experiencing when requesting GS and receiving reports from laboratories. There was a spectrum of interactions between genetic health professionals and laboratories.

Key Implications of Data Sharing in Pediatric Genomics.

Accurate clinical interpretation of children's whole-genome and whole-exome sequences relies on comparing the patient's linked genomic and phenotypic data with variant reference databases of both healthy and affected patients. The robustness of such comparisons, in turn, is made possible by sharing pediatric genomic and associated clinical data. Despite this, sparse ethical-legal policy attention has been paid to making such sharing routine in practice.

Reporting practices for variants of uncertain significance from next generation sequencing technologies.

The nature of next generation sequencing technologies (NGS) results in the generation of large amounts of data and the identification of numerous variants, for some of which the clinical significance may be difficult to ascertain based on our current knowledge. These Variants of Uncertain Significance (VUS) may be identified in genes in which the function is known or unknown and which may or may not be related to the original rationale for sequencing the patient. Little is known about whether laboratories report VUS to clinicians and current guidelines issued by some of the most notable professional bodies do not provide specific recommendations on this point.

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported.

Genomic newborn screening: public health policy considerations and recommendations.

Background: The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.

Methods: The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.

Results: Before genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established.

Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.

Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature.

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority.

Because children are presumed to have insufficient cognitive ability to consent to participate in research, pediatric research raises particular ethical and legal issues. For children who have not reached the age of consent stipulated by law or policy, parents (or legal guardians) must authorize their participation. This paper explores the issue of whether, to satisfy the ethical and legal norms of consent for research, participants in pediatric studies who attain the age of majority after their parents or guardians enrolled them in a study should be “recontacted” to obtain their consent to remain in the study.

Participation of Children in Medical Decision-Making: Challenges and Potential Solutions.

Participation in healthcare decision-making is considered to be an important right of minors, and is highlighted in both international legislation and public policies. However, despite the legal recognition of children's rights to participation, and also the benefits that children experience by their involvement, there is evidence that legislation is not always translated into healthcare practice. There are a number of factors that may impact on the ability of the child to be involved in decisions regarding their medical care.

Next-Generation Sequencing and the Return of Results.

The impact of next-generation sequencing (NGS) on the issue of return of results is defying clear policy guidance and creating international confusion. Limiting ourselves to the return of results revealed by NGS (including incidental findings) in adults, children, family members of deceased individuals, and population studies, we describe and contrast emerging policy positions in Europe, Canada, and the United States. Until there are clear, scientific, and professional standards and practical policy, both researchers and clinicians cannot be faulted for being either hesitant or pressured to return NGS results.

Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.

The development of next-generation sequencing (NGS) technologies are revolutionizing medical practice, facilitating more accurate, sophisticated and cost-effective genetic testing. NGS is already being implemented in the clinic assisting diagnosis and management of disorders with a strong heritable component. Although considerable attention has been paid to issues regarding return of incidental or secondary findings, matters of consent are less well explored.

Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process.

This paper proposes a set of recommendations for the return of research results and incidental findings in paediatrics. The Network of Applied Genetic Medicine of Quebec spearheaded the initiative to develop the Statement of Principles on the Return of Research Results and Incidental Findings, which was the result of a consultation process with clinical and research experts in the field. To formulate the Statement of Principles, the authors (i) reviewed empirical and grey literature on the return of research results and incidental findings in Europe and Canada, (ii) conducted a qualitative study of stakeholder groups, (iii) developed, and (iv) validated the recommendations through consultations with the stakeholder groups.

Return of genetic testing results in the era of whole-genome sequencing.

Genetic testing based on whole-genome sequencing (WGS) often returns results that are not directly clinically actionable as well as raising the possibility of incidental (secondary) findings. In this article, we first survey the laws and policies guiding both researchers and clinicians in the return of results for WGS-based genetic testing. We then provide an overview of the landscape of international legislation and policies for return of these results, including considerations for return of incidental findings.

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population.

Public concerns regarding the storage and secondary uses of residual newborn bloodspots: an analysis of print media, legal cases, and public engagement activities.

Recently, public concerns have been expressed regarding the non-consented storage and secondary research uses of residual newborn bloodspot (RBS) samples. The purpose of this paper is to examine public responses to the storage and secondary uses of RBS that can be identified through analysis of media, legal cases, and documented public engagement activities. Coverage in the examined print media confirmed the importance of RBS to journalists and those people who expressed their concerns to these journalists.

To disclose, or not to disclose? Context matters.

Progress in understanding childhood disease using next-generation sequencing (NGS) portends vast improvements in the nature and quality of patient care. However, ethical questions surrounding the disclosure of incidental findings (IFs) persist, as NGS and other novel genomic technologies become the preferred tool for clinical genetic testing. Thus, the need for comprehensive management plans and multidisciplinary discussion on the return of IFs in pediatric research has never been more immediate.

Whole-genome sequencing in newborn screening programs.

The availability of whole-genome sequencing (WGS) is likely to change the practice of population screening programs such as newborn screening (NBS). This Commentary raises key ethical, legal, and social issues surrounding WGS in NBS and suggests a need for deliberation regarding the policy challenges of introducing sequencing in such programs. Any change in the goals of NBS programs should be discussed carefully and should represent the best interests of the child.

Defining the Scope of Public Engagement: Examining the "Right Not to Know" in Public Health Genomics.

In this article, we explore the concept of a "right not to know" on a population rather than individual level. We argue that a population level "right not to know" is a useful concept for helping to define the appropriate boundaries of public engagement initiatives in the emerging public health genomics context.