A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.

Aim: To understand awareness, knowledge and preferences regarding genetic testing among the USA general public. Methods: A cross-sectional online survey using a Qualtrics Panel. Results: Among 1600 respondents, 545 (34%) were White, 411 (26%) Black, 412 (26%) Hispanic or Latin(x) and 232 (15%) Asian. Most had heard of ancestry testing (87%) and genetic health risk testing (69%), but a third thought inherited genes were only a little or not at all responsible for obesity (36%) and mental health (33%). The majority preferred pre-emptive pharmacogenetic testing (n = 74%) compared with reactive testing. Statistically significant differences between racial/ethnic groups and rural-urban respondents were observed. Conclusion: Most preferred pre-emptive pharmacogenetic testing; however, about one-quarter preferred reactive testing. Preferences should be discussed during patient-clinician interactions.

What is this study about? This study presents a large online survey among the USA general public to understand their awareness, knowledge and preferences about genetic testing and how this may vary by racial/ethnic group and rural/urban status. What were the results? Most survey respondents had heard of ancestry testing (87%) and genetic health risk testing (69%). However, over a third of respondents thought that inherited genes may be only a little or not at all responsible for obesity (36%) and mental health (33%). When asked about preferences for pre-emptive compared with reactive pharmacogenetic testing, the majority preferred pre-emptive testing (n = 74%). Statistically significant differences between racial/ethnic groups as well as rural-urban respondents were seen. What do the results mean? The US general public may have a different understanding of genetic testing for different diseases, and have different preferences when it comes to the timing of testing. Appropriate educational content targeting the link between genetics and specific diseases should be prepared, and preferences for pre-emptive or reactive testing should be discussed during visits with healthcare providers.

The effectiveness and value of gene therapy for hemophilia: A Summary from the Institute for Clinical and Economic Review's California Technology Assessment Forum.

DISCLOSURES: Dr Tice and Mr Sarker received ICER grants during the conduct of the study. Dr Moradi, Ms Herce-Hagiwara, Dr Faghim, Dr Agboola, Dr Rind, and Dr Pearson reports grants from Arnold Ventures, grants from Blue Cross Blue Shield of MA, grants from California Healthcare Foundation, grants from The Commonwealth Fund, grants from The Peterson Center on Healthcare, during the conduct of the study; other from Aetna, other from America's Health Insurance Plans, other from Anthem, other from AbbVie, other from Alnylam, other from AstraZeneca, other from Biogen, other from Blue Shield of CA, other from Cambia Health Services, other from CVS, other from Editas, other from Express Scripts, other from Genentech/Roche, other from GlaxoSmithKline, other from Harvard Pilgrim, other from Health Care Service Corporation, other from Health Partners, other from Johnson & Johnson (Janssen), other from Kaiser Permanente, other from LEO Pharma, other from Mallinckrodt, other from Merck, other from Novartis, other from National Pharmaceutical Council, other from Premera, other from Prime Therapeutics, other from Regeneron, other from Sanofi, other from Spark Therapeutics, other from United Healthcare, other from HealthFirst, other from Pfizer, other from Boehringer-Ingelheim, other from uniQure, other from Evolve Pharmacy Solutions, other from Humana, other from Sun Life, outside the submitted work.

Current published evidence on barriers and proposed strategies for genetic testing implementation in health care settings: A scoping review.

BACKGROUND: The slow uptake of genetic testing in routine clinical practice warrants the attention of researchers and practitioners to find effective strategies to facilitate implementation. OBJECTIVES: This study aimed to identify the barriers to and strategies for pharmacogenetic testing implementation in a health care setting from published literature. METHODS: A scoping review was conducted in August 2021 with an expanded literature search using Ovid MEDLINE, Web of Science, International Pharmaceutical Abstract, and Google Scholar to identify studies reporting implementation of pharmacogenetic testing in a health care setting, from a health care system's perspective. Articles were screened using DistillerSR and findings were organized using the 5 major domains of Consolidated Framework for Implementation Research (CFIR). RESULTS: A total of 3536 unique articles were retrieved from the above sources, with only 253 articles retained after title and abstract screening. Upon screening the full texts, 57 articles (representing 46 unique practice sites) were found matching the inclusion criteria. We found that most reported barriers and their associated strategies to the implementation of pharmacogenetic testing surrounded 2 CFIR domains: intervention characteristics and inner settings. Factors relating to cost and reimbursement were described as major barriers in the intervention characteristics. In the same domain, another major barrier was the lack of utility studies to provide evidence for genetic testing uptake. Technical hurdles, such as integrating genetic information to medical records, were identified as an inner settings barrier. Collaborations and lessons from early implementers could be useful strategies to overcome majority of the barriers across different health care settings. Strategies proposed by the included implementation studies to overcome these barriers are summarized and can be used as guidance in future. CONCLUSION: Barriers and strategies identified in this scoping review can provide implementation guidance for practice sites that are interested in implementing genetic testing.

Impact of Diabetes Self-Management Education/Support on Self-Reported Quality of Life in Youth With Type 1 or Type 2 Diabetes.

PURPOSE: The persistent requirement of self-management for diabetes impacts quality of life (QoL), yet the literature for impact of diabetes self-management education and support (DSMES) on QoL in youth has not been synthesized and reported. The purpose of this review was to systematically identify and describe the state of the science exploring the impact of DSMES on self-reported QoL in youth with type 1 diabetes (T1DM) or type 2 diabetes (T2DM). METHODS: A modified Cochrane review was conducted. Retained studies were published in the English language between January 1, 2007, and March 31, 2020. Included studies specified that the intervention had diabetes education addressing at least 1 or more of The Association of Diabetes Care & Education Specialists' ADCES7 Self-Care BehaviorsTM (ADCES7™) and used an established self-reported QoL measure. Retained studies were assessed for risk of bias. RESULTS: Eleven studies reported in 12 articles were retained. The interventions were primarily delivered to youth with T1DM or T2DM and included caregivers/families in some studies. The ADCES7™ were addressed across the retained studies. Five of the 11 studies assessed QoL as the primary outcome and 6 studies as a secondary outcome. CONCLUSION: To enhance the QoL outcomes and to provide insight into how to positively impact self-perceptions of QoL, ongoing generic and diabetes-specific QoL assessments are warranted for youth with T1DM or T2DM. Further research is needed in structured DSMES programs to help reduce variability in research designs, methods, measures, and outcomes to generate evidence for best practices that can be translated and disseminated into real-world settings.

Association between prior use of anti-diabetic medication and breast cancer stage at diagnosis.

BACKGROUND: Knowledge regarding antidiabetic medication (ADM) use prior to breast cancer (BC) diagnosis remains limited. The objectives were to (1) evaluate if the prior use of ADM was associated with BC stage at diagnosis and (2) identify and compare patient characteristics among BC patients using different ADMs. RESEARCH DESIGN AND METHODS: Newly diagnosed female BC patients exposed to any medication during one year prior to cancer diagnosis were identified in 2008-2013 Linked Surveillance, Epidemiology, and End Results (SEER)-Medicare database. Stage at diagnosis, categorized as early and advanced, was the primary outcome. Chi-square tests were used to compare characteristics and logistic regression models were applied to examine the effect while controlling for patient's characteristics. RESULTS: A total of 1,719 female BC patients used ADM while 6,084 patients were non-ADM users. Although a higher proportion of ADM users (20.36%) were diagnosed with advanced stage compared to the non-ADM users (14.46%), the difference was not statistically significant after adjusting for the patients' characteristics. Besides, insulin users were more likely to be diagnosed with advanced stage (adjusted odds ratio 1.69; 95% CI 1.15, 2.48) compared to metformin users. CONCLUSIONS: The association between ADM use and BC diagnostic characteristics varied based on different treatments.

Screening Mammography Utilization Among Female Medicare Beneficiaries and Breast Cancer Survivors in 2002-2016.

Background: The use of screening mammography varies by patient characteristics. This study examined the annual mammography utilization trends among female Medicare beneficiaries and breast cancer survivors, overall and by beneficiary characteristics. Materials and Methods: This retrospective, serial cross-sectional study used the 2002-2016 Medicare Current Beneficiary Survey (MCBS), including fee-for-service female Medicare beneficiaries who resided in community settings and who completed the survey (n = 53,788, weighted n = 206,259,890). Self-reported mammography utilization and breast cancer history were identified through the survey. Annual trends in the proportion of using mammography were examined using simple linear regression models, overall and by beneficiary's age, race, geographic region, and count of comorbidities. Multivariable models with generalized estimating equations were used to examine factors associated with mammography utilization. Results: Overall, the mammography utilization trends significantly decreased during the 2002-2016 period for both cohorts (p = 0.004 for female beneficiaries from 50.85% in 2002 to 40.55% in 2016 and p = 0.041 for breast cancer survivors from 68.36% in 2002 to 55.21% in 2016). Among female beneficiaries, trends also significantly decreased in different age groups, Whites, residential regions (Midwest, South, West, Metro, and Nonmetro), and count of comorbid conditions (all p < 0.05). Trends also declined among the breast cancer survivors who were ≥70 years old, ≥40 years old, and in South region (all p < 0.05). Beneficiary's demographic and socioeconomic factors, comorbidity, smoking, and health status were associated with the likelihood of screening mammography utilization among female beneficiaries; however, such associations were limited among breast cancer survivors. Conclusions: In 2002-2016, the overall trends in mammography use among female Medicare beneficiaries and breast cancer survivors declined significantly. Variations in mammography use among different subgroups were observed.

Did citizen petitions prolong the number of approval days of generic drugs?

OBJECTIVES: To compare the numbers of approval days of the generic drugs with and without citizen petitions. METHODS: Data from a previous study were obtained to create a data set containing Food and Drug Administrations (FDA) abbreviated new drug applications (ANDAs) with and without citizen petitions, and their filing and approval dates. Descriptive analyses were conducted. An independent t-test was used to analyze the difference of the numbers of approval days of the generic drugs with and without citizen petitions. RESULTS: A total of 289 ANDAs of 81 drugs submitted between the first quarter of 2008 and the third quarter of 2014 were included. Citizen petitions were submitted for 184 (63.7%) ANDAs during this period. More than a third (36.3%) of all ANDAs had a single petition. Among the ANDAs with the citizen petition, the average number of petitions per ANDA was approximately two. The numbers of approval days of the ANDAs with and without citizen petitions were 1221.7 and 978.6 days, respectively, and they were statistically significantly different (p-value < 0.0001). CONCLUSION: The number of approval days of the generic drugs with citizen petitions was significantly higher than the number of approval days of the generic drugs without citizen petitions.

Adverse event reporting patterns of concomitant botanical dietary supplements with CYP3A4 interactive & CYP3A4 non-interactive anticancer drugs in the U.S. Food and Drug Administration Adverse Event Reporting System (FAERS).

BACKGROUND: To examine the adverse event (AE) reporting patterns for concomitant Botanical Dietary Supplements (BDS) and anticancer drugs. RESEARCH DESIGN AND METHODS: Using the 2004-2015 U.S. Food and Drug Administration Adverse Event Reporting System (FAERS) database, AEs involving commonly used BDS and anticancer drugs (categorized into CYP3A4 interactive and CYP3A4 non-interactive) were examined. Disproportionality analyses using reporting odds ratios (RORs) assessed the relative reporting rates of 1) serious AEs (i.e., mortality and morbidity) with concomitant use of BDS (overall and by type) and anticancer drugs compared to anticancer drugs only; and 2) AEs by specific System Organ Classes (SOCs). RESULTS: A total of 3,264 AEs were reported involving concomitant BDS and CYP3A4 interactives, and 3,885 involving concomitant BDS and non-interactive anticancer drugs. ROR of serious AEs with concomitant all BDS and anticancer drugs compared to anticancer drugs alone showed a potential protective signal (ROR = 0.65, 95% CI = 0.62,0.68), but ROR for açaí and non-interactive anticancer drugs indicated potential risk (ROR = 1.70, 95% CI = 1.01,2.86). Heterogeneity of reporting patterns of AEs related to certain SOCs was observed for use of BDS along with anticancer drugs. CONCLUSION: This study identified potential protective and risk signals for AEs with concomitant use of BDS and anticancer drugs.