Risk-stratified screening for breast cancer (BC) is increasingly considered as a promising approach. However, its implementation is challenging and needs to be acceptable to women. We examined Canadian women’s attitudes towards, comfort level about, and willingness to take part in BC risk-stratified screening. We conducted an online survey in women aged 30 to 69 years in four Canadian provinces. In total, 4293 women completed the questionnaire (response rate of 63%). The majority of women (63.5% to 72.8%) expressed favorable attitudes towards BC risk-stratified screening. Most women reported that they would be comfortable providing personal and genetic information for BC risk assessment (61.5% to 67.4%) and showed a willingness to have their BC risk assessed if offered (74.8%). Most women (85.9%) would also accept an increase in screening frequency if they were at higher risk, but fewer (49.3%) would accept a reduction in screening frequency if they were at lower risk. There were few differences by province; however, outcomes varied by age, education level, marital status, income, perceived risk, history of BC, prior mammography, and history of genetic test for BC (all p ≤ 0.01). Risk-based BC screening using multifactorial risk assessment appears to be acceptable to most women. This suggests that the implementation of this approach is likely to be well-supported by Canadian women.

Technological innovations including risk-stratification algorithms and large databases of longitudinal population health data and genetic data are allowing us to develop a deeper understanding how individual behaviors, characteristics, and genetics are related to health risk. The clinical implementation of risk-stratified screening programmes that utilise risk scores to allocate patients into tiers of health risk is foreseeable in the future. Legal and ethical challenges associated with risk-stratified cancer care must, however, be addressed. Obtaining access to the rich health data that are required to perform risk-stratification, ensuring equitable access to risk-stratified care, ensuring that algorithms that perform risk-scoring are representative of human genetic diversity, and determining the appropriate follow-up to be provided to stratification participants to alert them to changes in their risk score are among the principal ethical and legal challenges. Accounting for the great burden that regulatory requirements could impose on access to risk-scoring technologies is another critical consideration.

Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.

Public-private partnerships (PPP) have been increasingly used to spur and facilitate innovation in a number of fields. In healthcare, the purpose of using a PPP is commonly to develop and/or provide vaccines and drugs against communicable diseases, mainly in developing or underdeveloped countries. With the advancement of technology and of the area of genomics, these partnerships also focus on large-scale genomic research projects that aim to advance the understanding of diseases that have a genetic component and to develop personalized treatments. This new focus has created new forms of PPPs that involve information technology companies, who provide computing infrastructure and services to store, analyze, and share the massive amounts of data genomic-related projects produce. In this article, we explore models of PPPs proposed to handle, protect, and share the genomic data collected and to further develop genomic-based medical products. We also identify the reasons that make these models suitable and the challenges they have yet to overcome. To achieve this, we describe the details and complexities of MSSNG, ICGC, and 100,000 Genomes Project, three PPPs that focus on large-scale genomic research to better understand the genetic components of autism, cancer, rare diseases, and infectious diseases with the intention to find appropriate treatments. Organized as PPP and employing cloud-computing services, the three projects have advanced quickly and are likely to be important sources of research and development for future personalized medicine. However, there still are unresolved matters relating to conflicts of interest, commercialization, and data control. Learning from the challenges encountered by past PPPs allowed us to establish that developing guidelines to adequately manage personal health information stored in clouds, and ensuring the protection of data integrity and privacy would be critical steps in the development of future PPPs.

Countries have adopted different laws, policies, and practices that allow immigration officers to request in certain cases DNA tests to confirm biological relationships in the context of family reunification. In Canada, Citizenship and Immigration Canada has adopted a policy of suggesting DNA testing only as a last resort in cases where no documentary evidence has been submitted or where the evidence provided is deemed unsatisfactory. However, in practice, there have been concerns on the increasing use of DNA tests in family reunification processes of nationals from certain regions including Africa, Asia, and Latin America. Moreover, the Immigration and Refugee Protection Regulations (IRPR) presents a biological definition of family as a determinant of parenthood in the context of family reunification that is inconsistent with the psychosocial definition used in provincial family laws. Although there are cases that can justify the request for DNA tests, there are also significant social, legal, and ethical issues, including discrimination and unfair practices, raised by this increasing use of genetic information in immigration. This policy brief identifies points to consider for policymakers regarding the use of DNA testing in Canadian family reunification procedures. These include (1) the need to refine the policy of “using DNA testing as a last resort” and its implementation, (2) the need to modify the definition of “dependent child” under the IRPR to reflect the intrinsic reality of psychosocial family ties, and (3) the importance of conducting more research on the use of DNA testing in other immigration contexts.

Family reunification is one of the main forms of immigration in many countries. To regulate this process, countries implement measures to prevent cases of fraud, to improve procedural efficiency, and to facilitate integration. One of these measures is the use of DNA testing to confirm a biological link between the sponsor and the applicants. The use of DNA testing has been considered a valuable option due to its accuracy, but it has also raised social, legal, and ethical concerns. Whether the use of DNA testing could be justified is contingent on the way the test itself is implemented. This article reviews and compares the ways in which the use of DNA testing is justified and implemented, as well as the issues it raises in family reunification processes in Austria, Canada, Finland, France, Germany, the UK, and the USA. We critically examine these justifications and concerns, and identify key challenges that will need to be addressed in future immigration policies and practices on this topic.