Objective: The aim of this study was to explore the parental views, attitudes, and preferences of... more Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. Results: All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood. All parents endorsed potential medical utility but also nonmedical utility as a motivating factor including being able to prepare and not being surprised by health issues as they occurred. Most felt that it was important to have some choice about the conditio...
Research and Practice in Thrombosis and Haemostasis, 2022
Few therapies exist to treat severe COVID‐19 respiratory failure once it develops. Given known di... more Few therapies exist to treat severe COVID‐19 respiratory failure once it develops. Given known diffuse pulmonary microthrombi on autopsy studies of COVID‐19 patients, we hypothesized that tissue plasminogen activator (tPA) may improve pulmonary function in COVID‐19 respiratory failure.
Background: People with cystic fibrosis (pwCF) may be at risk of complications from COVID-19 but ... more Background: People with cystic fibrosis (pwCF) may be at risk of complications from COVID-19 but the impact of COVID-19 on pwCF remains unknown. Methods: We conducted a multicenter retrospective cohort study to assess the impact of the COVID-19 pandemic first wave on pwCF in the New York metropolitan area (NY) from March 1, 2020 to August 31, R ARDS, acute respiratory distress syndrome. ACFLD, advanced cystic fibrosis lung disease, BMI, body mass index. CF, cystic fibrosis. CFTR, cystic fibrosis transmembrane conductance regulator. COVID-19, coronavirus 2019 disease. DC, delay in care. ETI, elexacaftor/tezacaftor/ivacaftor. FEV1, forced expiratory volume in 1 second. FVC, forced vital capacity. HEMT, highly effective CFTR modulator. IRB, institutional review board. PCR, polymerase chain reaction. pwCF, people with cystic fibrosis. REDCap, Research Electronic Data Capture.
Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely... more Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely in clinical practice. Studies of the parental experience of CES, which inform guidelines for best practices for genetic counseling, have been predominately comprised of White, non-Latinx participants. The aim of this study was to explore the parental experiences of CES in a Latinx community and to understand how their experiences are influenced by culture and language. We conducted semi-structured interviews in English and Spanish with 38 Latinx parents of children who had CES. Some of the themes that emerged were common to those previously identified, including a sense of obligation to pursue testing and a mixed emotional response to their child's results. Parents who had lower education level and/or received care from a provider who did not share their language had more confusion about their child's CES results and greater dissatisfaction
Genetic screening to inform personal risk has only recently become an option as the cost of seque... more Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic information and do well after learning it, but minorities are underrepresented in these studies. We surveyed Ashkenazi Jewish (AJ) and Latino/a participants in a genetic screening study to solicit choices about genetic results to return, as well as their experience with learning these results and attitudes about genetic information secrecy and security. Participants had the option to proceed through the study self-guided, and few elected to have traditional pre-test genetic education and counseling. Despite this, the majority were satisfied with the process of selecting and receiving genetic results and felt that they understood their results. Concerns about privacy and confidentiality of genetic data were minimal, though some participants expressed modest concerns about keeping any potential results secret or the confidentiality of their genetic information. Our results support the feasibility of the option of self-guided genetic screening. Additional care will need to be taken when designing population-based screening studies to meet the needs of participants who come from communities with different experiences with genetics.
The original version of this Article contained an error in the undergraduate degree awarded to th... more The original version of this Article contained an error in the undergraduate degree awarded to the author Ian Halim, which was incorrectly given as BS. This has now been corrected to BA in both the PDF and HTML versions of the Article.
Purpose: Recruitment of participants from diverse backgrounds is crucial to the generalizability ... more Purpose: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results. Methods: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. Results: A total of 1118 participants provided consent, a blood sample, and questionnaire data. The estimated cost across recruitment methods ranged from $579 to $1666 per participant and required a large recruitment team. Recruitment methods using flyers and staff networks were the most cost-efficient and resulted in the highest completion rate. Targeted sampling that emphasized the importance of Latino/a participation, utilization of translated materials, and in-person recruitments contributed to enrolling a demographically diverse sample. Conclusions: Although all methods were deployed in the same hospital or neighborhood and shared the same staff, each recruitment method was different in terms of cost and characteristics of the enrolled participants, suggesting the importance of carefully choosing the recruitment methods based on the desired composition of the final study sample. This analysis provides information about the effectiveness and cost of different methods to recruit adults for genetic research.
American Journal of Respiratory and Critical Care Medicine, 2021
Rationale: People with cystic fibrosis (CF) experience acute worsening of respiratory symptoms an... more Rationale: People with cystic fibrosis (CF) experience acute worsening of respiratory symptoms and lung function known as pulmonary exacerbations. Treatment with intravenous antimicrobials is common; however, there is scant evidence to support a standard treatment duration. Objectives: To test differing durations of intravenous antimicrobials for CF exacerbations. Methods: STOP2 (Standardized Treatment of Pulmonary Exacerbations 2) was a multicenter, randomized, controlled clinical trial in exacerbations among adults with CF. After 7-10 days of treatment, participants exhibiting predefined lung function and symptom improvements were randomized to 10 or 14 days' total antimicrobial duration; all others were randomized to 14 or 21 days' duration. Measurements and Main Results: The primary outcome was percent predicted FEV 1 (ppFEV 1) change from treatment initiation to 2 weeks after cessation. Among early responders, noninferiority of 10 days to 14 days was tested; superiority of 21 days compared with 14 days was compared for the others. Symptoms, weight, and adverse events were secondary. Among 982 randomized people, 277 met improvement criteria and were randomized to 10 or 14 days of treatment; the remaining 705 received 21 or 14 days of treatment. Mean ppFEV 1 change was 12.8 and 13.4 for 10 and 14 days, respectively, a-0.65 difference (95% CI [-3.3 to 2.0]), excluding the predefined noninferiority margin. The 21-and 14-day arms experienced 3.3 and 3.4 mean ppFEV 1 changes, a difference of-0.10 (-1.3 to 1.1). Secondary endpoints and sensitivity analyses were supportive. Conclusions: Among adults with CF with early treatment improvement during exacerbation, ppFEV 1 after 10 days of intravenous antimicrobials is not inferior to 14 days. For those with less improvement after one week, 21 days is not superior to 14 days. Clinical trial registered with www.clinicaltrials.gov (NCT02781610).
Objective: The aim of this study was to explore the parental views, attitudes, and preferences of... more Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. Results: All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood. All parents endorsed potential medical utility but also nonmedical utility as a motivating factor including being able to prepare and not being surprised by health issues as they occurred. Most felt that it was important to have some choice about the conditio...
Research and Practice in Thrombosis and Haemostasis, 2022
Few therapies exist to treat severe COVID‐19 respiratory failure once it develops. Given known di... more Few therapies exist to treat severe COVID‐19 respiratory failure once it develops. Given known diffuse pulmonary microthrombi on autopsy studies of COVID‐19 patients, we hypothesized that tissue plasminogen activator (tPA) may improve pulmonary function in COVID‐19 respiratory failure.
Background: People with cystic fibrosis (pwCF) may be at risk of complications from COVID-19 but ... more Background: People with cystic fibrosis (pwCF) may be at risk of complications from COVID-19 but the impact of COVID-19 on pwCF remains unknown. Methods: We conducted a multicenter retrospective cohort study to assess the impact of the COVID-19 pandemic first wave on pwCF in the New York metropolitan area (NY) from March 1, 2020 to August 31, R ARDS, acute respiratory distress syndrome. ACFLD, advanced cystic fibrosis lung disease, BMI, body mass index. CF, cystic fibrosis. CFTR, cystic fibrosis transmembrane conductance regulator. COVID-19, coronavirus 2019 disease. DC, delay in care. ETI, elexacaftor/tezacaftor/ivacaftor. FEV1, forced expiratory volume in 1 second. FVC, forced vital capacity. HEMT, highly effective CFTR modulator. IRB, institutional review board. PCR, polymerase chain reaction. pwCF, people with cystic fibrosis. REDCap, Research Electronic Data Capture.
Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely... more Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely in clinical practice. Studies of the parental experience of CES, which inform guidelines for best practices for genetic counseling, have been predominately comprised of White, non-Latinx participants. The aim of this study was to explore the parental experiences of CES in a Latinx community and to understand how their experiences are influenced by culture and language. We conducted semi-structured interviews in English and Spanish with 38 Latinx parents of children who had CES. Some of the themes that emerged were common to those previously identified, including a sense of obligation to pursue testing and a mixed emotional response to their child's results. Parents who had lower education level and/or received care from a provider who did not share their language had more confusion about their child's CES results and greater dissatisfaction
Genetic screening to inform personal risk has only recently become an option as the cost of seque... more Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic information and do well after learning it, but minorities are underrepresented in these studies. We surveyed Ashkenazi Jewish (AJ) and Latino/a participants in a genetic screening study to solicit choices about genetic results to return, as well as their experience with learning these results and attitudes about genetic information secrecy and security. Participants had the option to proceed through the study self-guided, and few elected to have traditional pre-test genetic education and counseling. Despite this, the majority were satisfied with the process of selecting and receiving genetic results and felt that they understood their results. Concerns about privacy and confidentiality of genetic data were minimal, though some participants expressed modest concerns about keeping any potential results secret or the confidentiality of their genetic information. Our results support the feasibility of the option of self-guided genetic screening. Additional care will need to be taken when designing population-based screening studies to meet the needs of participants who come from communities with different experiences with genetics.
The original version of this Article contained an error in the undergraduate degree awarded to th... more The original version of this Article contained an error in the undergraduate degree awarded to the author Ian Halim, which was incorrectly given as BS. This has now been corrected to BA in both the PDF and HTML versions of the Article.
Purpose: Recruitment of participants from diverse backgrounds is crucial to the generalizability ... more Purpose: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results. Methods: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. Results: A total of 1118 participants provided consent, a blood sample, and questionnaire data. The estimated cost across recruitment methods ranged from $579 to $1666 per participant and required a large recruitment team. Recruitment methods using flyers and staff networks were the most cost-efficient and resulted in the highest completion rate. Targeted sampling that emphasized the importance of Latino/a participation, utilization of translated materials, and in-person recruitments contributed to enrolling a demographically diverse sample. Conclusions: Although all methods were deployed in the same hospital or neighborhood and shared the same staff, each recruitment method was different in terms of cost and characteristics of the enrolled participants, suggesting the importance of carefully choosing the recruitment methods based on the desired composition of the final study sample. This analysis provides information about the effectiveness and cost of different methods to recruit adults for genetic research.
American Journal of Respiratory and Critical Care Medicine, 2021
Rationale: People with cystic fibrosis (CF) experience acute worsening of respiratory symptoms an... more Rationale: People with cystic fibrosis (CF) experience acute worsening of respiratory symptoms and lung function known as pulmonary exacerbations. Treatment with intravenous antimicrobials is common; however, there is scant evidence to support a standard treatment duration. Objectives: To test differing durations of intravenous antimicrobials for CF exacerbations. Methods: STOP2 (Standardized Treatment of Pulmonary Exacerbations 2) was a multicenter, randomized, controlled clinical trial in exacerbations among adults with CF. After 7-10 days of treatment, participants exhibiting predefined lung function and symptom improvements were randomized to 10 or 14 days' total antimicrobial duration; all others were randomized to 14 or 21 days' duration. Measurements and Main Results: The primary outcome was percent predicted FEV 1 (ppFEV 1) change from treatment initiation to 2 weeks after cessation. Among early responders, noninferiority of 10 days to 14 days was tested; superiority of 21 days compared with 14 days was compared for the others. Symptoms, weight, and adverse events were secondary. Among 982 randomized people, 277 met improvement criteria and were randomized to 10 or 14 days of treatment; the remaining 705 received 21 or 14 days of treatment. Mean ppFEV 1 change was 12.8 and 13.4 for 10 and 14 days, respectively, a-0.65 difference (95% CI [-3.3 to 2.0]), excluding the predefined noninferiority margin. The 21-and 14-day arms experienced 3.3 and 3.4 mean ppFEV 1 changes, a difference of-0.10 (-1.3 to 1.1). Secondary endpoints and sensitivity analyses were supportive. Conclusions: Among adults with CF with early treatment improvement during exacerbation, ppFEV 1 after 10 days of intravenous antimicrobials is not inferior to 14 days. For those with less improvement after one week, 21 days is not superior to 14 days. Clinical trial registered with www.clinicaltrials.gov (NCT02781610).
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