Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.

Prospects have never seemed better for a truly global approach to science to improve human health, with leaders of national initiatives laying out their vision of a worldwide network of related projects. An extensive literature addresses obstacles to global genomic data sharing, yet a series of public polls suggests that the scientific community may be overlooking a significant barrier: potential public resistance to data sharing across national borders. In several large United States surveys, university researchers in other countries were deemed the least acceptable group of data users, and a just-completed US survey found a marked increase in privacy and security concerns related to data access by non-US researchers. Furthermore, diminished support for sharing beyond national borders is not unique to the US, although the limited data from outside the US suggest variation across countries as well as demographic groups. Possible sources of resistance include apprehension about privacy and security protections. Strategies for building public support include making the affirmative case for global data sharing, addressing privacy, security, and other legitimate concerns, and investigating public concerns in greater depth.

On 13 December 2016, President Obama signed the 21st Century Cures Act (“the Act”) into law. Many of its provisions support the creation of an “Information Commons,” an ecosystem of separate but interconnected initiatives that facilitate open and responsible sharing of genomic and other data for research and clinical purposes. For example, the Act supports the National Institutes of Health in mandating data sharing, provides funding and guidance for the large national cohort program now known as All of Us, expresses congressional support for a global pediatric study network, and strengthens patient access to health information. The Act also addresses potential barriers to data sharing. For example, it makes the issuance of certificates of confidentiality automatic for federally funded research involving “identifiable, sensitive” information and strengthens the associated protections. At the same time, the Act exacerbates or neglects several challenges, for example, increasing complexity by adding a new definition of “identifiable” and failing to address the financial sustainability of data sharing and the scope of commercialization. In sum, the Act is a positive step, yet there is still much work to be done before the goals of broad data sharing and utilization can be achieved.

Whether adolescents can participate in clinical trials of pharmacologic therapies for HIV prevention, such as preexposure prophylaxis, without parental permission hinges on state minor consent laws.Very few of these laws explicitly authorize adolescents to consent to preventive services for HIV and other sexually transmitted infections. Unclear state laws may lead to research cessation.We have summarized legal, ethical, and policy considerations related to adolescents’ participation in HIV and sexually transmitted infection prevention research in the United States, and we have explored strategies for facilitating adolescents’ access.

Germline genetic testing for inherited cancer risk has shifted to multi-gene panel tests (MGPTs). While MGPTs detect more pathogenic variants, they also detect more variants of uncertain significance (VUSs) that increase the possibility of harms such as unnecessary surgery. Data sharing by laboratories is critical to addressing the VUS problem. However, barriers to sharing and an absence of incentives have limited laboratory contributions to the ClinVar database. Payers can play a crucial role in the expansion of knowledge and effectiveness of genetic testing. Current policies affecting MGPT reimbursement are complex and create perverse incentives. Trends in utilization and coverage for private payers and Medicare illustrate opportunities and challenges for data sharing to close knowledge gaps and improve clinical utility. Policy options include making data sharing (i) a condition of payment, and (ii) a metric of laboratory quality in payment contracts, yielding preferred coverage or enhanced reimbursement. Mandating data sharing sufficient to verify interpretations and resolve discordance among labs under Medicare and federal health programs is an option for the US Congress. Such policies can reduce the current waste of valuable data needed for precision oncology and improved patient outcomes, enabling a learning health system.