Suzanne Maria Onstwedder

Interest in the genomic sequencing of healthy newborns has raised a discussion on whether this technology should be introduced into existing newborn screening (NBS) programs. This qualitative study explores a multi-stakeholder perspective on the future of genomic sequencing in NBS. Semi-structured interviews were conducted with 26 professionals involved in NBS or in clinical genome sequencing in the Netherlands. Participants highlighted opportunities such as the possibility to use one test for a wide range of genetic conditions, reducing diagnostic odyssey, expanding the scope of NBS, and increasing program efficiency. Challenges were raised regarding genetic variant interpretation, expected increased parental anxiety, data privacy issues, difficulties with information provision, and high costs. Three areas of tension between participants’ perspectives were identified: screening strategy, screening performance, and roles and responsibilities. It was emphasized that implementing genomic sequencing should not risk reducing the current high NBS participation, and that enhancing knowledge, communication, and collaboration between all stakeholders is needed. Although most participants did not believe genomic sequencing as a first-tier test is currently desirable and feasible, they acknowledged it has a role to play in the future of NBS. Future decision-making should consider the potential impact on the participation rate, program quality, and balancing benefits and harms.

Newborn screening (NBS) aims to identify rare but treatable conditions in newborns to offer early interventions. The possibilities of genomic sequencing are being researched to further strengthen NBS. This scoping review explores public and parent perspectives on genomic sequencing in NBS. We performed a literature search in Embase and Psych-abs databases to find relevant articles from 2005 until August 2024. Twenty-seven articles describing 20 studies from 7 countries were included, mostly describing survey studies. The public and parents reported a positive interest in genomic sequencing in NBS, but were overall more willing to participate in standard NBS compared to genomic NBS. Respondents’ perceived benefits of genomic NBS included increased health gain for newborns, preparedness for parents and their child, enabling family planning, and benefits for other family members and population health. Most perceived concerns related to the storage and privacy of genomic sequencing data, fear of insurance discrimination, and psychological worries as a result of genomic sequencing test results. Articles reported limited public concerns regarding test accuracy or the possibility of receiving uncertain results. Preferences on how genomic sequencing should be offered were mentioned regarding decision-making and informed consent, result delivery, data storage, and program offer and costs. In conclusion, the public and parents seem generally supportive of genomic sequencing in NBS. However, to uphold support and participation comparable with current NBS programs, arguments and beliefs of the public and parents should be further explored if genomic sequencing is to be successfully implemented into or alongside NBS programs.

Introduction: Incidental findings (IF) can be yielded in genomic research that analyzes data from healthy participants or patients. The need for clear IF policies grows along with the increase in international genomic research, data collection and sharing efforts. This study aims to inform policy discussions and decisions about IF. Methods: We interviewed key stakeholders involved in Canadian, European, or international research projects. We used the 3-I framework for interview design and analysis, which distinguishes interests (i.e., agendas), ideas (i.e., values), and institutions (i.e., policy structures, e.g., laws) as factors that impact policy decisions. We integrated the three bioethical principles into this framework: respect for persons, beneficence, and justice. Results: Interviewees were from Canada (n = 7) and Europe (n = 4). Different IF policies are followed and practiced. Policy decisions are impacted by varying interests, ideas, and institutions. Prioritization of distinct interests and ideas varies between policies. Key policy considerations are: determining whose interest is prioritized; determining what is of best interest to the participant; determining who is responsible for what when research and healthcare institutional frameworks create tension; determining what is just and a fair distribution of benefits and burdens between individuals and populations; and determining how scarce time and money should be allocated. Discussion: Explicating policy considerations can help to further discuss and decide how IF policies will impact not only research participants, but also patients, citizens, professionals, the public and diverse populations. Technologies, cultural values, and laws and regulations evolve over time. Therefore, continuous discussions should be held.

Background: The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public. Objective: This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services. Methods: We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance. Results: Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information. Conclusions: Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously been studied. Methods and Goals: The present study aimed to assess the completeness, balance, readability, and findability of informational content on a selection of websites from several health-related DTC-GT sellers accessible to Dutch consumers. An in-depth content analysis was performed based on a recently published checklist outlining key items for policy guidance regarding DTC-GT services. Results: The information provided by sellers did not equally cover all aspects relevant to health-related DTC-GT service provision. The provided information was slightly unbalanced, with benefits of health-related DTC-GT usage being overemphasized compared to its risks and limitations. The readability of the provided information was low, on average requiring college education for proper understanding. A findability analysis showed that information concerning all themes is overall relatively evenly distributed across analyzed sellers’ websites. Conclusions: Information provision by assessed health-related DTC-GT sellers is suboptimal regarding completeness, balance, and readability. To better empower potential consumers to make an informed decision regarding health-related DTC-GT usage, we advocate industry-wide enhancement of information provision.

Introduction Consumers may purchase commercial diagnostic tests (CDT) without prior doctor consultation. This paper analyzes three CDT markets—commercial cholesterol tests (CCT), direct-to-consumer genetic health tests (DGT) and total body scans (TBS)—in the context of the universal, collectively financed health care system of the Netherlands. Methods An online willingness-to-pay (WTP) questionnaire was sent to a representative sample of 1500 Dutch consumers. Using contingent valuation (CV) methodology, an array of bids for three self-tests were presented to the respondents. The results were extrapolated to the Dutch population and compared to current prices and follow-up medical utilization, allowing analysis from a societal perspective. Results Overall, 880 of 1500 respondents completed the questionnaire (response rate 59%). Of the respondents, 26–44% were willing to pay a positive amount for the CDT. Willingness-to-pay was correlated to age and household income, but not to health status or prior experience with these tests. At mean current prices of €29 for CCT, €229 for DGT and €1,650 for TBS, 3.3%, 2.5%, and 1.1%, were willing to purchase a CCT, DGT, and TBS, respectively. All three CDT resulted in net costs to the health system, estimated at €5, €16, and €44 per test, respectively. Reducing volumes by 90,000 CCTs (19%), 19,000 DGTs (5%) and 4,000 TBSs (2.5%) in 2019 would optimize welfare. Conclusion Most respondents were unwilling to consume CDT at any price or only if the CDT were provided for free. However, for a small group of consumers, societal costs exceed private benefits. Therefore, CDT regulation could provide small welfare gains.

BACKGROUND The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public. OBJECTIVE This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services. METHODS We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance. RESULTS Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information. CONCLUSIONS Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Introduction: Population-based genomic research is expected to deliver substantial public health benefits. National genomics initiatives are widespread, with large-scale collection and research of human genomic data. To date, little is known about the actual public health benefit that is yielded from such initiatives. In this study, we explore how public health benefit is being pursued in a selection of national genomics initiatives.Methods: A mixed-method study was carried out, consisting of a literature-based comparison of 11 purposively sampled national genomics initiatives (Belgium, Denmark, Estonia, Finland, Germany, Iceland, Qatar, Saudi Arabia, Taiwan, United Kingdom (UK), and United States (USA)), and five semi-structured interviews with experts (Denmark, Estonia, Finland, UK, USA). It was analyzed to what extent and how public health benefit was pursued and then operationalized in each phase of an adapted public health policy cycle: agenda setting, governance, (research) strategy towards health benefit, implementation, evaluation.Results: Public health benefit within national genomics initiatives was pursued in all initiatives and also operationalized in all phases of the public health policy cycle. The inclusion of public health benefit in genomics initiatives seemed dependent on the outcomes of agenda setting, such as the aims and values, as well as design of governance, for example involved actors and funding. Some initiatives focus on a research-based strategy to contribute to public health, while others focus on research translation into healthcare, or a combination of both. Evaluation of public health benefits could be performed qualitatively, such as assessing improved public trust, and/or quantitatively, e.g. research output or number of new diagnoses. However, the created health benefit for the general public, both short- and long-term, appears to be difficult to determine.Conclusion: Genomics initiatives hold the potential to deliver health promises of population-based genomics. Yet, universal tools to measure public health benefit and clarity in roles and responsibilities of collaborating stakeholders are lacking. Advancements in both aspects will help to facilitate and achieve the expected impact of genomics initiatives and enable effective research translation, implementation, and ultimately improved public health.