ImportanceReproductive genetic carrier screening can be performed prior to or during pregnancy to assess a reproductive couple’s risk of having a child with a recessively inherited disorder. Although professional societies endorse preconception screening as preferable to prenatal screening to allow for greater reproductive choice, implementation of preconception screening is challenging.ObjectiveTo determine how carrier screening timing varies by multilevel factors associated with health care delivery including patient, clinician, and location across a large integrated health care system.Design, Setting, and ParticipantsThis cross-sectional study used a mixed-methods approach including (1) quantitative analysis of multilevel factors associated with the timing of reproductive carrier screening and (2) qualitative analyses of data from interviews conducted with clinicians ordering carrier screenings. The setting was the Mass General Brigham, a large integrated health care system in the greater Boston, Massachusetts area. Participants included adult female patients who completed reproductive carrier screening performed by Myriad Women’s Health between October 1, 2018, to September 30, 2019.ExposuresSite of care (ordering clinical location and hospital affiliate), ordering clinician specialty, and patient characteristics, including age at date of test collection, self-reported race and ethnicity, primary insurance payor, and number of comorbidities.Main Outcomes and MeasuresThe primary outcome was the timing of carrier screening (preconception vs prenatal). A series of 4 multilevel logistic regression models were fitted to measure the relative contribution of site, clinician, and patient-level factors on the timing of screening. Interviews with ordering clinicians (N = 9) were analyzed using a framework approach to explore barriers to preconception screening.ResultsAmong 6509 adult female patients who completed carrier screenings, 770 (12%) were Asian, 352 (5%) were Hispanic, 640 (10%) were non-Hispanic Black, 3844 (59%) were non-Hispanic White, 858 (13%) were other or multiple races and ethnicities, and 2611 (40%) were aged 31 to 35 years; 4701 (63%) had prenatal screening and 2438 (37%) had preconception screening; screenings were ordered by 161 distinct clinicians across 32 clinical locations affiliated with 4 hospitals. In model 1, adjusted for hospital (fixed effect), clinic and clinician (random effects), 49% of the variability in timing was associated with clinician-level effects (intraclass correlation coefficient [ICC], 0.49) and 28% was associated with clinic-level effects (ICC, 0.28). Clinician specialty explained the greatest amount of variation in screening timing. Interviewed clinicians (N = 9) supported preconception screening but cited several barriers to offering population-based preconception screening.Conclusions and RelevanceIn this cross-sectional study, multilevel factors were associated with carrier screening timing. These findings suggest that increasing access to preconception screening may involve engaging specific medical specialties.
e13607 Background: Randomized clinical trials of multi-cancer early detection (MCED) tests are being planned, and primary care providers (PCPs) are likely to encounter patients who are considering participation. Little information has been reported about provider support for patient participation in such trials. Methods: We surveyed PCPs from 4 practices in a large health system to learn about their views on patient participation in a hypothetical MCED test trial. The PCPs received a link to view a patient-oriented infographic that described a trial in which participants would undergo serial blood draws for MCED testing and would be randomly assigned either to standard care or to receive MCED test results and follow-up, as needed. After viewing the infographic, respondents were asked to complete a brief survey that included statements related to factors that would affect their receptivity to patient participation in the trial, using a 5-point Likert type response scale that ranged from 1 = Strongly Disagree to 5 = Strongly Agree. The survey also included a single item that asked respondents if they would support patient participation in the trial and provided an opportunity to report the main reason for their answer. Finally, the survey contained a background characteristics section. We computed frequency distributions of survey responses. Results: Twenty-seven of 37 (73%) invited primary care providers completed the survey. About half of the respondents were women and two thirds were white; 81% were physicians while 19% were nurse practitioners, 54% were in practice for less than 20 years, all were board certified, and 74% had a hospital affiliation. Receptivity scores regarding a future MCED trial were high, with a mean of 3.8 and standard deviation of 0.6. Overall, 25 providers (93%) reported that they would support patient participation in an MCED test trial. The most commonly reported reasons for supporting patient participation were the belief that early cancer detection is important and the belief that research to develop new cancer screening tests is needed. The most commonly cited reasons for not supporting participation were concern about managing patients diagnosed with cancer in the trial and worry that trial participants would require too many practice resources. Conclusions: The overwhelming majority of respondents supported patient participation in an MCED test trial, but many were concerned about trial impact on their capacity to meet patient needs. Further research is needed in a larger study to validate these results and learn more about factors likely to influence PCP support for patient participation in MCED test trials and actual participation.
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