Prenatal Genetic Testing for Intersex Conditions in Canada.

Intersex individuals face human rights violations, discrimination, and stigmatization worldwide. Diagnosis in infants is uncommon, with between 1 in 2000 and 1 in 4500 infants born with ambiguous external genitalia sufficient to warrant genetic and endocrine studies. However, estimates of the actual proportion of the population falling under the broader umbrella of intersex, including sexual variation at the chromosomal, gonadal, hormonal, or genital level, are as high as 1.7%. As the rise of non-invasive prenatal screening (NIPS) capable of identifying intersex conditions at the fetal stage has increased the potential for prenatal detection, there is an urgent need for attention to the potential ethical challenges that may arise from earlier and more frequent detection. There has been growing attention in recent years to the harms faced by intersex individuals at the hands of the medical community. In the prenatal context, genetic counseling is one avenue by which prospective parents might be helped to understand the full spectrum of intersexuality and form realistic expectations for their children. However, best practices and medical policies to prevent stigmatization and discrimination against intersex individuals remain underdeveloped. There is presently a lack of Canadian-specific guidance or explicit legal protections for intersex individuals to guide health care providers in their relationship with these patients and their families. In this commentary, we argue that this gap calls for increased training for health care providers that incorporates the voices and concerns of the intersex community.

Points-to-consider on the return of results in epigenetic research.

As epigenetic studies become more common and lead to new insights into health and disease, the return of individual epigenetic results to research participants, in particular in large-scale epigenomic studies, will be of growing importance. Members of the International Human Epigenome Consortium (IHEC) Bioethics Workgroup considered the potential ethical, legal, and social issues (ELSI) involved in returning epigenetic research results and incidental findings in order to produce a set of 'Points-to-consider' (P-t-C) for the epigenetics research community. These P-t-C draw on existing guidance on the return of genetic research results, while also integrating the IHEC Bioethics Workgroup's ELSI research on and discussion of the issues associated with epigenetic data as well as the experience of a return of results pilot study by the Personal Genome Project UK (PGP-UK). Major challenges include how to determine the clinical validity and actionability of epigenetic results, and considerations related to environmental exposures and epigenetic marks, including circumstances warranting the sharing of results with family members and third parties. Interdisciplinary collaboration and good public communication regarding epigenetic risk will be important to advance the return of results framework for epigenetic science.

Epigenetic Discrimination: Emerging Applications of Epigenetics Pointing to the Limitations of Policies Against Genetic Discrimination.

Over more than two decades, various policies have been adopted worldwide to restrict the use of individual genetic information for non-medical reasons by third parties and prevent 'genetic discrimination'. In this paper, we bring attention to the growing interest for individual epigenetic information by insurers and forensic scientists. We question whether such interest could lead to 'epigenetic discrimination' - the differential adverse treatment or abusive profiling of individuals or groups based on their actual or presumed epigenetic characteristics - and argue that we might already be facing the limitations of recently adopted normative approaches against genetic discrimination. First, we highlight some similarities and differences between genetic and epigenetic modifications, and stress potential challenges to regulating epigenetic discrimination. Second, we argue that most existing normative approaches against genetic discrimination fall short in providing oversight into the field of epigenetics. We conclude with a call for discussion on the issue, and the development of comprehensive and forward-looking preventive strategies against epigenetic discrimination.

Evolving data access policy: The Canadian context.

In setting up a data access policy to share controlled access data from the McGill Epigenomics Mapping Centre (EMC), an International Human Epigenome Consortium (IHEC) partner project, we encountered ethical and legal challenges that are likely to be relevant to other researchers sharing data, especially from Canadian projects. We discuss our solutions to the following data-sharing challenges, based on comparative legal and policy analysis: (1) providing access to data to a growing number of researchers; (2) maintaining Canadian privacy standards while sharing controlled access data internationally; (3) freedom of information requests; and (4) providing more incentives for researchers to share pre-publication data.

Locating Biobanks in the Canadian Privacy Maze.

Although Canada has not yet enacted any biobanking-specific privacy law, guidance and oversight are provided via various federal and provincial health and privacy-related laws as well as via ethics and policy documents. The primary policy document governing health research, the Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans, provides the framework for the strong role of Research Ethics Boards in Canada, and limits research funding from Canada's three main federal funding agencies to those who agree to adhere to its policies. The broad consent model is gaining traction in Canada, although lack of legal and constitutional precedence for the broad consent or opt-out options makes this an evolving issue. In general, data is required to be coded; more specific security measures are outlined in guidelines that may be implemented by local policy. International sharing is allowed, and Canada meets the European Union's standards for receipt of data and samples.

The ethical framing of personalized medicine.

PURPOSE OF REVIEW: Personalized medicine encompasses the use of biological information such as genomics to provide tailored interventions for patients. The review explores the ethical, legal, and social issues that have emerged with personalized medicine and must be considered because of the complex nature of providing individualized care within a clinical setting. RECENT FINDINGS: Recent studies found that the use of personalized medicine presents challenges in multiple areas: biobanking and informed consent, confidentiality, genetic discrimination, return of results, access to treatment, clinical translation, direct-to-consumer genetic testing, emerging duties, and knowledge mobilization. SUMMARY: Although personalized medicine provides benefits in treating patients in a manner that is more suited to their genetic profile, there are challenges that must be discussed to ensure the protection and fair treatment of individuals. The issues concerning personalized medicine are widespread, and range from individual privacy to the stratification and discrimination of sub-populations based on ethnicity. These issues have considerable impact on the individual and society. A thorough exploration of these ethical issues may identify novel challenges as well as potential avenues for resolution.