Harvey and Gurvir's Law: Ontario Bill for Quality Prenatal Information about Down Syndrome: Terminology, Feasibility, and Ethical Issues.

Harvey and Gurvir's Law is a bill proposed to the Legislative Assembly of Ontario (Canada) to reduce stigma and bias associated with Down syndrome, by developing and disseminating quality information about Down syndrome in the context of prenatal testing.

Governing the futures of non-invasive prenatal testing: An exploration of social acceptability using the Delphi method.

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers numerous benefits to pregnant women and their families. It also raises ethical, legal and social concerns regarding, for instance, the possible effects of a routinization of prenatal genetic testing on free and informed decision-making by prospective parents, and the role of the state in governing its use. Technological advances are allowing cfDNA analyses to detect an increasing number of genetic risks and conditions in the fetus, potentially further exacerbating such concerns. From May 2015 to December 2016, we conducted a three-round Policy Delphi study (NR1 = 61, NR2 = 58, NR3 = 47; overall retention rate = 77.0%) to explore the social acceptability (SA) of current and potential future uses of NIPT in Canada according to participants with relevant professional, research or advocacy expertise. Participants came from four groups: healthcare professionals (NR3 = 14), social sciences and humanities researchers (NR3 = 13), patients/disability rights advocates (NR3 = 14), and cultural/religious communities advocates (NR3 = 6). This paper presents SA criteria and contextual contingencies relevant to the assessment of NIPT's SA according to the group. It also reports what uses (conditions or motives) participants thought should be banned, permitted, publicly funded, or promoted as a public health strategy. According to them, conditions resulting in severe pain or early death, as well as trisomies (13, 18, 21) and sex chromosome abnormalities, should be covered by Canadian public health insurance. However, there was wide agreement that direct-to-consumer NIPT should be legally banned, and that testing for fetal sex for non-medical reasons using NIPT should be either proscribed or discouraged. In addition to identifying areas of consensus, our results point to disagreement regarding, for instance, the required level of governance of whole-genome sequencing and testing for late onset conditions with low penetrance. This study also provides a model for exploring the SA of emerging technologies using the Policy Delphi method.

Information needs of people seeking fertility services in Canada: a mixed methods analysis.

BACKGROUND: Infertility is a challenging experience associated with high levels of psychological distress. Many people seeking fertility services use the internet to obtain information about their conditions and treatments. OBJECTIVES: This mixed-methods study aimed to describe the information-seeking experience of people seeking fertility services with respect to the fulfillment of their individually defined information needs and explore relationships between the fulfillment of information needs and psychological outcomes. METHODS: One hundred and four participants completed a survey with close-ended and open-ended questions about their experience using an informational web-based application (app) called 'Infotility' and about their mental well-being before and after using the app. The questionnaires administered were the The Mobile Application Rating Scale (uMARS), the Fertility Quality of Life questionnaire (FertiQol), the Patient Empowerment Questionnaire (PEQ) and the General Anxiety Disorder 7-item Scale (GAD-7). Eleven participants completed in-depth qualitative interviews about their experience using the app. A thematic analysis was used to interpret qualitative results and quantitization was used to dichotomize participants into those with met information needs versus those with unmet information needs. Google Analytics was used to compare participants' reported experience with their actual use of the app. RESULTS: The results of this study show that there is variability in the amount of information that people seeking fertility services wish to receive. Participants whose information needs were met reported improved psychological outcomes after using the app, while those with unmet needs showed no change in their psychological outcomes. CONCLUSIONS: Our results suggest that fulfilling information needs was associated with improved psychological outcomes in people seeking fertility services. Our results also suggest that individual differences in information needs should be considered when developing health educational materials.

Noninvasive Prenatal Testing: Views of Canadian Pregnant Women and Their Partners Regarding Pressure and Societal Concerns.

BACKGROUND: Noninvasive prenatal testing (NIPT) provides important benefits yet raises ethical concerns. We surveyed Canadian pregnant women and their partners to explore their views regarding pressure to test and terminate a pregnancy, as well as other societal impacts that may result from the routinization of NIPT. METHODS: A questionnaire was offered (March 2015 to July 2016) to pregnant women and their partners at five healthcare facilities in four Canadian provinces. RESULTS: 882 pregnant women and 395 partners completed the survey. 64% of women anticipated feeling no pressure to take the test if it were offered routinely, and 39% were not concerned about routinization leading to increased pressure to terminate a pregnancy of a fetus with Down Syndrome. Regarding other social concerns possibly resulting from routinization, pregnant women were most concerned regarding a reduction in resources available for people with Down Syndrome and their families and least concerned regarding a decrease in the population of people with Down Syndrome. CONCLUSIONS: Our findings reflect the concerns expressed by pregnant women and their partners, both personal (pressure to test, pressure to terminate) and societal (e.g., regarding potential negative impact on people with disabilities and their families). Even if most women were not concerned about feeling pressured to test due to NIPT routinization, a large minority express concerns that should not be taken lightly. Moreover, a majority of respondents were concerned regarding pressure to terminate pregnancies due to NIPT routinization as well as regarding most societal impacts they were queried on, especially the possible future reduction in resources available for people with DS and their families. Canadian policy-makers should consider these potential negative ramifications of NIPT and ensure that appropriate social policies accompany its implementation.

An Analytical Mobile App for Shared Decision Making About Prenatal Screening: Protocol for a Mixed Methods Study.

BACKGROUND: Decisions about prenatal screening to assess the risk of genetic conditions such as Down syndrome are complex and should be well informed. Moreover, the number of available tests is increasing. Shared decision making (SDM) about testing could be facilitated by decision aids powered by mobile technology. OBJECTIVE: In this mixed methods study, we aim to (1) assess women's needs and preferences regarding using an app for considering prenatal screening, (2) develop a decision model using the analytical hierarchy process, and (3) develop an analytical app and assess its usability and usefulness. METHODS: In phase 1, we will assess the needs of 90 pregnant women and their partners (if available). We will identify eligible participants in 3 clinical sites (a midwife-led birthing center, a family practice clinic, and an obstetrician-led hospital-based clinic) in Quebec City and Montreal, Canada. Using semistructured interviews, we will assess participants' attitudes toward mobile apps for decision making about health, their current use of apps for health purposes, and their expectations of an app for prenatal testing decisions. Self-administered questionnaires will collect sociodemographic information, intentions to use an app for prenatal testing, and perceived importance of decision criteria. Qualitative data will be transcribed verbatim and analyzed thematically. Quantitative data will be analyzed using descriptive statistics and the analytic hierarchy process (AHP) method. In phase 2, we will develop a decision model using the AHP whereby users can assign relative importance to criteria when deciding between options. We will validate the model with potential users and a multidisciplinary team of patients, family physicians, primary care researchers, decision sciences experts, engineers, and experts in SDM, genetics, and bioethics. In phase 3, we will develop a prototype of the app using the results of the first 2 phases, pilot test its usefulness and usability among a sample of 15 pregnant women and their partners (if available), and improve it through 3 iterations. Data will be collected with a self-administered questionnaire. Results will be analyzed using descriptive statistics. RESULTS: Recruitment for phase 1 will begin in 2019. We expect results to be available in 2021. CONCLUSIONS: This study will result in a validated analytical app that will provide pregnant women and their partners with up-to-date information about prenatal screening options and their risks and benefits. It will help them clarify their values and enable them to weigh the options to make informed choices consistent with their preferences and values before meeting face-to-face with their health care professional. The app will be easy to update with the latest information and will provide women with a user-friendly experience using their smartphones or tablets. This study and the resulting app will contribute to high-quality SDM between pregnant women and their health care team. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/13321.

Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.

OBJECTIVE: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT). METHODS: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study. RESULTS: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals. CONCLUSION: Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.

The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access.

BACKGROUND: Canadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT being publicly covered for high-risk pregnancies in some provinces, but not others. Such a diverse and evolving policy landscape provides fertile ground for examining the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system, as well as the factors influencing their preferences, which is what the present study does. METHODS: In this paper, we report the results of three-large scale Canadian surveys, in which 882 pregnant women, 395 partners of pregnant women, and 184 healthcare professionals participated. RESULTS: The paper focuses on preferences regarding how and when NIPT should be used, as well as the factors influencing these preferences, and how coverage for NIPT should be provided. These are correlated with respondents' levels of knowledge about Down syndrome and testing technologies and with their stated intended use of NIPT results. CONCLUSION: Salient is the marked difference between the preferences of prospective parents and those of healthcare professionals, which has potential implications for Canadian policy regarding NIPT implementation and insurance coverage.

Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study.

BACKGROUND: Noninvasive prenatal testing is a recent technology that provides some genetic information about the fetus through the analysis of cell-free fetal DNA circulating in maternal blood. We aimed to identify the benefits, challenges and guiding ethical principles most relevant to the clinical integration of noninvasive prenatal testing in Canada, according to experts throughout the country. METHODS: We conducted a 3-round Delphi study involving Canadian experts of contemporary discussions about the ethical and societal implications of prenatal testing and genomic technologies. In round 1, we asked participants to identify clinical benefits and challenges related to the implementation of noninvasive prenatal testing in Canada, and the ethical principles they think should guide it. In round 2, we asked participants to select the most important elements stated by their peers. In round 3, participants were informed of the aggregated results from round 2, and invited to revise or confirm their selection. RESULTS: Round 1 had a participation rate of 20.2%, and involved 61 participants. Subsequent rounds 2 and 3 had retention rates of 95.1% (n = 58) and 84.5% (n = 49), respectively. Through these discussions, we identified 3 lists of benefits (n = 10), challenges (n = 27), and ethical principles (n = 16) prioritized by Canadian experts as being most relevant to the implementation of noninvasive prenatal testing in Canada. INTERPRETATION: Although multiple and diverse potential issues were identified, Canadian experts agreed on 2 sets of requirements for the responsible implementation of noninvasive prenatal testing in Canada. Interdisciplinary appraisals may be instrumental to responsible policy-making related to the implementation of noninvasive prenatal testing in Canada.

An Experiment with Public-Oriented Knowledge Transfer: A Video on Quebec's Bill 10.

When decision-makers are engaged in a polarized discourse and leaving aside evidence-based recommendations, is there a role for researchers in the dissemination of this scientific evidence to the general public as a means to counterbalance the debate? In response to the controversial Bill 10 in Quebec, we developed and posted a knowledge transfer video on YouTube to help stimulate critical public debate. This article explains our approach and methodology, and the impact of the video, which, in the space of two weeks, had more than 9,500 views, demonstrating the pertinence of such initiatives. We conclude with recommendations for other research groups to engage in public debates.

Sleepwalking Into Infertility: The Need for a Public Health Approach Toward Advanced Maternal Age.

In Western countries today, a growing number of women delay motherhood until their late 30s and even 40s, as they invest time in pursuing education and career goals before starting a family. This social trend results from greater gender equality and expanded opportunities for women and is influenced by the availability of contraception and assisted reproductive technologies (ART). However, advanced maternal age is associated with increased health risks, including infertility. While individual medical solutions such as ART and elective egg freezing can promote reproductive autonomy, they entail significant risks and limitations. We thus argue that women should be better informed regarding the risks of advanced maternal age and ART, and that these individual solutions need to be supplemented by a public health approach, including policy measures that provide women with the opportunity to start a family earlier in life without sacrificing personal career goals.