A comparative analysis of non-invasive prenatal testing in Ontario and Quebec: the role of governing style in health technology innovation & adoption.

BACKGROUND: While processes of adoption and the impacts of various health technologies have been extensively studied by health services and policy researchers, the influence of policy makers' governing styles on these processes have been largely neglected. Through a comparative analysis of non-invasive prenatal testing (NIPT) in the Canadian provinces of Ontario and Quebec, this article examines how decisions about this technology were shaped by contrasting political ideologies, resulting in vastly different innovation and adoption strategies and outcomes. METHODS: A comparative qualitative investigation comprising of a document analysis followed by semi-structured interviews with key informants. Interview participants were researchers, clinicians, and private sector medical laboratory employees based in Ontario and Quebec, Canada. Interviews were conducted both in person and virtually- owing partly to the COVID-19 pandemic - to garner perspectives regarding the adoption and innovation processes surrounding non-invasive prenatal testing in both provinces. All interviews were recorded and transcribed verbatim and data were analyzed using thematic analysis. RESULTS: Through an analysis of 21 in-depth interview transcripts and key documents, the research team identified three central themes: 1) health officials in each province demonstrated a unique approach to using the existing scholarly literature on NIPT; 2) each provincial government demonstrated its own preference for service delivery, with Ontario preferring private and Quebec preferring public; and finally, 3) both Ontario and Quebec's strategies to NIPT adoption and innovation was contextualized within each province's unique financial positioning and concerns. These findings illustrate how both Quebec's nationalist focus and use of industrial policy and Ontario's 'New Public Management' style had implications for how this emerging healthcare technology was made available within each province's publicly-financed health system. CONCLUSIONS: Our study reveals how these governments' differing approaches to using data and research, public versus private service delivery, and financial goals and concerns resulted in distinct testing technologies, access, and timelines for NIPT adoption. Our analysis demonstrates the need for health policy researchers, policy makers, and others to move beyond analyses solely considering clinical and health economic evidence to understand the impact of political ideologies and governing styles.

Decision-making process about prenatal genetic screening: how deeply do moms-to-be want to know from Non-Invasive Prenatal Testing?

BACKGROUND: Prenatal information may be obtained through invasive diagnostic procedures and non-invasive screening procedures. Several psychological factors are involved in the decision to undergo a non-invasive prenatal testing (NIPT) but little is known about the decision-making strategies involved in choosing a specific level of in-depth NIPT, considering the increased availability and complexity of NIPT options. The main aim of this work is to assess the impact of psychological factors (anxiety about pregnancy, perception of risk in pregnancy, intolerance to uncertainty), and COVID-19 pandemic on the type of NIPT chosen, in terms of the number of conditions that are tested. METHODS: A self-administered survey evaluated the decision-making process about NIPT. The final sample comprised 191 women (Mage = 35.53; SD = 4.79) who underwent a NIPT from one private Italian genetic company. Based on the test date, the sample of women was divided between "NIPT before COVID-19" and "NIPT during COVID-19". RESULTS: Almost all of the participants reported being aware of the existence of different types of NIPT and more than half reported having been informed by their gynecologist. Results showed no significant association between the period in which women underwent NIPT (before COVID-19 or during COVID-19) and the preferences for more expanded screening panel. Furthermore, regarding psychological variables, results showed a significant difference between perceived risk for the fetus based on the NIPT type groups, revealing that pregnant women who underwent the more expanded panel had a significantly higher level of perceived risk for the fetus than that reported by pregnant women who underwent the basic one. There was no statistically significant difference between the other psychological variables and NIPT type. CONCLUSIONS: Our findings indicate the paramount role of gynecologist and other health care providers, such as geneticists and psychologists, is to support decision-making process in NIPT, in order to overcome people's deficits in genetic knowledge, promote awareness about their preferences, and control anxiety related to the unborn child. Decision-support strategies are critical during the onset of prenatal care, according to the advances in prenatal genomics and to parent's needs.

Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.

BACKGROUND: COVID-19 caused by the SARS-CoV-2 infection may result in various disease symptoms and severity, ranging from asymptomatic, through mildly symptomatic, up to very severe and even fatal cases. Although environmental, clinical, and social factors play important roles in both susceptibility to the SARS-CoV-2 infection and progress of COVID-19 disease, it is becoming evident that both pathogen and host genetic factors are important too. In this study, we report findings from whole-exome sequencing (WES) of 27 individuals who died due to COVID-19, especially focusing on frequencies of DNA variants in genes previously associated with the SARS-CoV-2 infection and the severity of COVID-19. RESULTS: We selected the risk DNA variants/alleles or target genes using four different approaches: 1) aggregated GWAS results from the GWAS Catalog; 2) selected publications from PubMed; 3) the aggregated results of the Host Genetics Initiative database; and 4) a commercial DNA variant annotation/interpretation tool providing its own knowledgebase. We divided these variants/genes into those reported to influence the susceptibility to the SARS-CoV-2 infection and those influencing the severity of COVID-19. Based on the above, we compared the frequencies of alleles found in the fatal COVID-19 cases to the frequencies identified in two population control datasets (non-Finnish European population from the gnomAD database and genomic frequencies specific for the Slovak population from our own database). When compared to both control population datasets, our analyses indicated a trend of higher frequencies of severe COVID-19 associated risk alleles among fatal COVID-19 cases. This trend reached statistical significance specifically when using the HGI-derived variant list. We also analysed other approaches to WES data evaluation, demonstrating its utility as well as limitations. CONCLUSIONS: Although our results proved the likely involvement of host genetic factors pointed out by previous studies looking into severity of COVID-19 disease, careful considerations of the molecular-testing strategies and the evaluated genomic positions may have a strong impact on the utility of genomic testing.