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Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously been studied. Methods and Goals: The present study aimed to assess the completeness, balance, readability, and findability of informational content on a selection of websites from several health-related DTC-GT sellers accessible to Dutch consumers. An in-depth content analysis was performed based on a recently published checklist outlining key items for policy guidance regarding DTC-GT services. Results: The information provided by sellers did not equally cover all aspects relevant to health-related DTC-GT service provision. The provided information was slightly unbalanced, with benefits of health-related DTC-GT usage being overemphasized compared to its risks and limitations. The readability of the provided information was low, on average requiring college education for proper understanding. A findability analysis showed that information concerning all themes is overall relatively evenly distributed across analyzed sellers' websites. Conclusions: Information provision by assessed health-related DTC-GT sellers is suboptimal regarding completeness, balance, and readability. To better empower potential consumers to make an informed decision regarding health-related DTC-GT usage, we advocate industry-wide enhancement of information provision. [ABSTRACT FROM AUTHOR]

IntroductionThe apolipoprotein E (APOE) gene is the strongest known genetic risk factor for sporadic Alzheimer disease (AD). APOE can be used as an enrichment strategy or inclusion criterion for AD prevention trials. Personal genomics companies market direct-to-consumer (DTC) genetic tests, including APOE. We assessed DTC APOE testing usage among enrollees of the University of California Irvine Consent-to-Contact Registry, an online recruitment registry, and attitudes toward using this information in clinical trial recruitment.MethodsWe emailed links to an electronic survey to registry enrollees age 50 years or older. We assessed participants' use of DTC services, willingness to learn APOE status, and willingness to share genetic information. Logistic regression models assessed relationships between DTC testing usage and demographic characteristics, and with willingness to share results to assist trial recruitment.ResultsAmong 1312 responders (57% response rate), few (7%) had used DTC testing for APOE. Non-Hispanic Asian enrollees were 93% less likely to have used DTC testing, compared with non-Hispanic Whites [95% confidence interval: (0.01, 0.67)]. Willingness to share APOE information for study recruitment was >90% for both users and nonusers.ConclusionsMatching participants to trials on the basis of DTC APOE information may be an effective way to streamline AD prevention trial recruitment.

Objective: To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again. Design: Cross-sectional online anonymous survey. Setting: Multicenter, 2 large American sperm banks from July 1, 2020 to July10, 2021. Patient(s): Sperm donors from 1980 to 2020. Intervention(s): None. Main outcome measure(s): Associations between donor demographic characteristics, donation history, and attitudes toward direct-to-consumer genetic testing. Result(s): A total of 396 donors completed the survey. Most donations (61.5%) occurred from 2010 to 2020, and 34.3% were nonidentified donations. Nonidentified donors were less comfortable with their genetic data being shared than open-identity donors (25.4% vs. 43.8%) and were less likely than open-identity donors to donate sperm again (43.3% vs. 72.1%). Donors who donated after the inception of direct-to-consumer genetic testing in 2007 were less likely to participate in commercial genetic testing than those who donated before 2007 (25.8% vs. 37.1%). Most donors (87.4%) have disclosed their donation(s) to current partners, but fewer have disclosed them to their families (56.6%) or children (30.5%). Of the donors who had been contacted by donor-conceived persons, 79.5% were identified via direct-to-consumer genetic testing. Overall, 61.1% of donors would donate again regardless of direct-to-consumer genetic testing. Conclusion(s): Direct-to-consumer genetic testing is playing a dynamic role in sperm donor identification, but donors seem willing to donate again. Implication counseling regarding future linkage and contact from donor-conceived persons needs to be standardized for potential donors before donation.

Genomic testing is increasingly common in the consumer marketplace. The role of nurses in educating and counseling patients requires them to be prepared to respond to questions about the results of direct-to-consumer genomic testing. This article describes one individual's reflections upon undergoing this testing, the challenges of interpreting the results, and nursing considerations for integrating these results into clinical practice.

BACKGROUND:Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). METHODS:Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. RESULTS:The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist's 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient's genetic results were higher for the specialists than the provider group. CONCLUSION:Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable.

We evaluated daily rapid antigen test (RAT) data from 323 COVID-19-positive university students in Connecticut, USA, during an Omicron-dominant period. Day 5 positivity was 47% for twice-weekly screeners and 26%-28% for less-frequent screeners, approximately halving each subsequent day. Testing negative >10 days before diagnosis (event time ratio (ETR) 0.85 [95% CI 0.75-0.96]) and prior infection >90 days (ETR 0.50 [95% CI 0.33-0.76]) were significantly associated with shorter RAT positivity duration. Symptoms before or at diagnosis (ETR 1.13 [95% CI 1.02-1.25]) and receipt of 3 vaccine doses (ETR 1.20 [95% CI 1.04-1.39]) were significantly associated with prolonged positivity. Exit RATs enabled 53%-74% of students to leave isolation early when they began isolation at the time of the first positive test, but 15%-22% remained positive beyond the recommended isolation period. Factors associated with RAT positivity duration should be further explored to determine relationships with infection duration. [ABSTRACT FROM AUTHOR]

Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5-10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene. Guidelines recommend genetic testing among all individuals with PDAC. Additionally, at-risk relatives of PDAC patients benefit from their own genetic education, risk assessment, and testing. Multigene panel testing (MGPT) can identify individuals with inherited cancer risk who can benefit from early cancer surveillance and risk reduction strategies. This manuscript discusses various healthcare delivery models for MGPT including traditional in-person genetic counseling, novel integrated in-person infrastructures, telemedicine genetics care via telephone- or video-visits and direct-to-consumer testing. Barriers and facilitators to care on the individual, provider, and system level are also outlined including specific considerations for historically marginalized communities., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Direct-to-consumer (DTC) genetic testing exists largely outside of any regulatory schemes, and studies providing a comprehensive overview of the ethical, social, legal, and technological considerations for regulating these types of technologies are lacking. This paper uses the 3-I framework for policy analysis to analyze the ideas, interests, and institutions relevant to policy development for DTC genetic testing in North America and internationally. A scoping review was conducted. Citation databases were searched for papers addressing the ethical, social, legal, and technological implications of DTC genetic testing; stakeholder perspectives on and experiences with DTC genetic testing; or the effect of such testing on the healthcare system. Ninety-nine publications, organizational reports, governmental documents, or pieces of legislation were included. The ideas included are autonomy, informed decision making, privacy, and clinical validity and utility. The interests discussed are those of the public and healthcare providers. The institutions included are regulatory organizations such as the Food and Drug Administration in the United States, laws governing the implementation or delivery of genetic testing in general, and legislation created to protect against genetic discrimination. This analysis clarifies the ethical, social, legal, and technological issues of DTC genetic testing regulation. This information can be used by policy makers to develop or strengthen regulations for DTC genetic testing such as requiring an assessment of the clinical validity of tests before they become publicly available, controlling how tests are marketed, and stipulating requirements for healthcare provider involvement and informed consent. [ABSTRACT FROM AUTHOR]

Competing Interests: Competing interests: All authors are members of the scientific steering committee of the Preventing Overdiagnosis conference for which BMJ is a media partner.

Background: The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public., Objective: This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services., Methods: We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance., Results: Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information., Conclusions: Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market., (©Suzanne Maria Onstwedder, Marleen Elizabeth Jansen, Martina Cornelia Cornel, Tessel Rigter. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 17.07.2024.)

In September 2022, CDC funded a nationwide program, Together TakeMeHome (TTMH), to expand distribution of HIV self-tests (HIVSTs) directly to consumers by mail through an online ordering portal. To publicize the availability of HIVSTs to priority audiences, particularly those disproportionately affected by HIV, CDC promoted this program through established partnerships and tailored resources from its Let's Stop HIV Together social marketing campaign. The online portal launched March 14, 2023, and through March 13, 2024, distributed 443,813 tests to 219,360 persons. Among 169,623 persons who answered at least one question on a postorder questionnaire, 67.9% of respondents were from priority audiences, 24.1% had never previously received testing for HIV, and 24.8% had not received testing in the past year. Among the subset of participants who initiated a follow-up survey, 88.3% used an HIVST themselves, 27.1% gave away an HIVST, 11.7% accessed additional preventive services, and 1.9% reported a new positive HIVST result. Mailed HIVST distribution can quickly reach large numbers of persons who have never received testing for HIV or have not received testing as often as is recommended. TTMH can help to achieve the goal of diagnosing HIV as early as possible and provides a path to other HIV prevention and care services. Clinicians, community organizations, and public health officials should be aware of HIVST programs, initiate discussions about HIV testing conducted outside their clinics or offices, and initiate follow-up services for persons who report a positive or negative HIVST result., Competing Interests: All authors have completed and submitted the International Committee of Medical Journal Editors form for disclosure of potential conflicts of interest. Robert Bole reports funding support from Emory University. Jennifer Hecht reports receipt of funding from OraSure Technologies for related work, not part of the current project. Patrick Sullivan reports institutional support from the National Institutes of Health, Merck, and Gilead Sciences, consulting fees from Merck and Gilead Sciences, honoraria from Gilead Sciences, and travel or meeting attendance support from Gilead Sciences. No other potential conflicts of interest were disclosed.

Background: Little is known of acceptability and feasibility of dual HIV and syphilis rapid tests in community- and home-based provider-initiated strategies among transgender women (TGW), in Latin America. Objectives were (1) to assess the acceptability of this strategy and, (2) to determine the percentage of positive results of HIV and syphilis, analyze the correlates of HIV or syphilis positive results, and measure the rates of effective referral and treatment completion among TGW. Methods: A multidisciplinary team tested 89 TGW in Buenos Aires. An acceptability survey was administered after the HIV/syphilis Duo test was used. All confirmed cases were referred for treatment initiation. Results: We found high levels of acceptability (98.8%) of this strategy among TGW. However, only 60.7% preferred simultaneous HIV and syphilis diagnosis test. Moreover, we found 9% of positive results of HIV, 51.7% of syphilis, and 3.4% of positive results for both infections. Only not being tested before was associated with an HIV positive result, and only low level of education was associated with a positive syphilis result. Among 8 TGW who tested positive for HIV, 37.5% (n = 3) started antiretroviral therapy. Of 46 who tested positive for syphilis, only 73.9% (n = 34) were effectively referred and from 23 who started treatment, only 39.1% completed it. Conclusions: Community- and home-based dual HIV and syphilis rapid test is a feasible and highly acceptable approach for this hard-to-reach population. Implementing similar strategies could improve screening uptake and accessibility. However, these results highlight the need to improve strategies for treatment uptake, in order to reduce morbidity and risk of onward transmission. [ABSTRACT FROM AUTHOR]

Objective The study sought to characterize the evaluation of patients who present following detection of an abnormal pulse using Apple Watch. Materials and Methods We conducted a retrospective review of patients evaluated for abnormal pulse detected using Apple Watch over a 4-month period. Results Among 264 included patients, clinical documentation for 41 (15.5%) explicitly noted an abnormal pulse alert. Preexisting atrial fibrillation was noted in 58 (22.0%). Most commonly performed testing included 12-lead echocardiography (n = 158; 59.8%), Holter monitor (n = 77; 29.2%), and chest x-ray (n = 64; 24.2%). A clinically actionable cardiovascular diagnosis of interest was established in only 30 (11.4%) patients, including 6 of 41 (15%) patients who received an explicit alert. Discussion False positive screening results may lead to overutilization of healthcare resources. Conclusions The Food and Drug Administration and Apple should consider the unintended consequences of widespread screening for asymptomatic ("silent") atrial fibrillation and use of the Apple Watch abnormal pulse detection functionality by populations in whom the device has not been adequately studied. [ABSTRACT FROM AUTHOR]

Introduction: Personalized medicine is the right treatment, to the right patient, at the right dose. Knowledge of genetic predisposition to variable metabolism and distribution of drugs within the body is currently available as pharmacogenomic testing and is one of the pillars of personalized medicine. Pharmacogenomic testing is growing. It has become part of guidelines for dosing on FDA labels and has been used by health care organizations to improve outcomes and reduce adverse events. Additionally, it has been FDA approved for direct-to-consumer purchase and has been cause of concern of patient self-dosing and medication changes. Presumably in the near future, pharmacogenomics will be impressed upon the military health system (MHS) provider from either a top-down, command requested, or from a bottom-up, patient requested, approach. To date, widespread implementation of pharmacogenomic testing does not seem to be established within the MHS. This survey sheds light on the knowledge, exposure, use, comfort, and interest among family medicine providers in the MHS. It compares similar results in other national and international surveys and compares results among a small subset of residents to staff.Materials and Methods: The questions were part of a larger survey conducted by the Clinical Investigations Committee of the Uniformed Services Academy of Family Physicians (USAFP) at the USAFP 2019 annual meeting. The study received approval from the Uniformed Services University Institutional Review Board. Submitted questions were written using multiple choice, fill-in, five-point Likert scale, and best answer. Direct results are reported as well as chi-square statistics for categorical data with statistical significance to attain a P-value of < 0.05.Results: Among the 532 USAFP-registered conference attendees eligible to complete the survey, 387 attendees responded to the survey, for a response rate of 72.7%. Some results included were a knowledge question in which 37% of respondents answered correctly. Less than half of respondents agreed that they could define pharmacogenomics, and resident respondents were more likely to have received teaching in graduate medical education. Additionally, 12% of providers responded to being exposed to direct-to-consumer results, and 28% of those exposed were influenced to change medications, while 14% were influenced to change medications on multiple occasions. Chi-square comparisons resulted in statistically significant direct relationships to exposure to direct to consumer testing, previous training, and confidence of those that answered the knowledge question correctly.Conclusions: This survey establishes a baseline for the possible needs associated with implementation of a pharmacogenomic program, and it argues an actionable level for the use of pharmacogenomics among the patient population within the MHS. [ABSTRACT FROM AUTHOR]

In this paper, I provide an epistemic evaluation of the harms that result from the widespread marketing of direct-to-consumer (DTC) genetic tests. While genetic tests are a valuable accessory diagnostic tool when ordered by a medical practitioner, there are different implications when they are sold directly to consumers. I aim to show that there are both epistemic and non-epistemic harms associated with the widespread commoditization of DTC genetic tests. I argue that the epistemic harms produced by DTC genetic tests have been disregarded in discussions on the topic. Drawing on the notion of contributory epistemic injustices, I highlight two pertinent epistemic harms: (1) a failure to uptake an individual's articulations about their identity and (2) the presiding reductionist framework dismisses useful hermeneutical resources. I then propose ways to mitigate these harms., (© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)

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Purpose: In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly.Methods: An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e., Facebook, Twitter, LinkedIn). Examples highlighted in the invitation included errors in ordering, counseling, and/or interpretation of genetic testing and did not limit submissions to cases involving genetic testing for hereditary cancer predisposition. Clinical documentation, including pedigree, was requested. Twenty-six cases were accepted, and a thematic analysis was performed. Submitters were asked to approve the representation of their cases before manuscript submission.Results: All submitted cases took place in the United States and were from cancer, pediatric, preconception, and general adult settings and involved both medical-grade and direct-to-consumer genetic testing with raw data analysis. In 8 cases, providers ordered the wrong genetic test. In 2 cases, multiple errors were made when genetic testing was ordered. In 3 cases, patients received incorrect information from providers because genetic test results were misinterpreted or because of limitations in the provider's knowledge of genetics. In 3 cases, pathogenic genetic variants identified were incorrectly assumed to completely explain the suspicious family histories of cancer. In 2 cases, patients received inadequate or no information with respect to genetic test results. In 2 cases, result interpretation/documentation by the testing laboratories was erroneous. In 2 cases, genetic counselors reinterpreted the results of people who had undergone direct-to-consumer genetic testing and/or clarifying medical-grade testing was ordered.Discussion: As genetic testing continues to become more common and complex, it is clear that we must ensure that appropriate testing is ordered and that results are interpreted and used correctly. Access to certified genetic counselors continues to be an issue for some because of workforce limitations. Potential solutions involve action on multiple fronts: new genetic counseling delivery models, expanding the genetic counseling workforce, improving genetics and genomics education of nongenetics health care professionals, addressing health care policy barriers, and more. Genetic counselors have also positioned themselves in new roles to help patients and consumers as well as health care providers, systems, and payers adapt to new genetic testing technologies and models. The work to be done is significant, but so are the consequences of errors in genetic testing. [ABSTRACT FROM AUTHOR]

Background: Earlier diagnosis of human immunodeficiency virus (HIV) infection improves health outcomes and reduces transmission. In New Zealand, half of new HIV diagnoses between 2005 and 2010 had a cluster of differentiation 4 count below 350 cells/mm3. HIV screening is already offered in antenatal settings in New Zealand, but not universally in hospital settings. Aims: To assess the impact of missed opportunities to diagnose HIV infection in adults presenting to hospital services at Auckland District Health Board (ADHB). Methods: Retrospective cohort analysis of all new diagnoses of HIV infection in adults aged 15–64 years residing within the ADHB catchment area over a 7‐year period. Those who had contact with hospital services prior to diagnosis, but within their estimated window of undiagnosed infection, were compared with those without such contact. Results: Of 201 newly diagnosed patients, 68 had prior hospital contact within their estimated window of HIV infection, 68% of whom were men who have sex with men. These patients could potentially have been diagnosed earlier by a median of 12 months (range 1–84). Missed opportunity visits occurred across a wide range of hospital services, and included visits for conditions that indicated risk for, or actual, HIV infection. Thirteen patients had HIV‐associated illnesses at the time of diagnosis that could have been prevented if diagnosed earlier. Conclusion: Our current risk‐based HIV screening strategy commonly results in late diagnosis, negative health impacts and possibly avoidable transmissions. Further study is warranted to model the feasibility and potential impact of universal HIV screening at ADHB. [ABSTRACT FROM AUTHOR]

Background: The incidence of sexually transmitted infections (STIs) is increasing in the United States. The COVID-19 pandemic resulted in significant reductions in access to health care services, including STI testing and treatment, leading to underreporting of STI cases and a need for alternatives to clinic-based testing. Moreover, concerns around confidentiality, accessibility, and stigma continue to limit access to clinic-based STI testing, particularly for high-priority populations. IWantTheKit (IWTK) is a web-based platform that mails free, confidential, self-administered sample collection kits for testing for gonorrhea, chlamydia (both genital and extragenital sites), and vaginal trichomonas. Individuals visiting the IWTK website may select genital, pharyngeal, and rectal samples for chlamydia and gonorrhea testing. Vaginal samples are tested for trichomoniasis. Self-collected samples are processed in a College of American Pathologists-accredited laboratory, and results are posted to an individual's secure digital account., Objective: This study aimed to (1) describe users' experience with the IWTK service through analysis of routine data and (2) optimize retention among current users and expand reach among high-priority populations by responding to user needs through programmatic and functional changes to the IWTK service., Methods: Free-text entries were submitted by IWTK users via a confidential "Contact Us" page on the IWTK website from May 17, 2021, to January 31, 2022. All entries were deidentified prior to analysis. Two independent analysts coded these entries using a predefined codebook developed inductively for thematic analysis., Results: A total of 254 free-text entries were analyzed after removing duplicates and nonsensical entries. Themes emerged regarding the functionality of the website and personal experiences using IWTK's services. Users' submissions included requests related to order status, address changes, replacement of old kits, clinical information (eg, treatment options and symptom reports), and reported risk behaviors., Conclusions: This analysis demonstrates how routine data can be used to propose potential programmatic improvements. IWTK implemented innovations on the website based on the study results to improve users' experience, including a tracking system for orders, address verification for each order, a physical drop box, additional textual information, direct linkage to care navigation, and printable results. Web-based, mail-order STI testing programs can leverage user feedback to optimize implementation and retention among current users and potentially expand reach among high-priority populations. This analysis is supported by other data that demonstrate how comprehensive support and follow-up care for individuals testing positive are critical components of any self-testing service. Additional formal assessments of the IWTK user experience and efforts to optimize posttesting linkage to care may be needed., (©Abagail Edwards, Aries Nuño, Christopher Kemp, Emily Tillett, Gretchen Armington, Rachel Fink, Matthew M Hamill, Yukari C Manabe. Originally published in JMIR Formative Research (https://formative.jmir.org), 11.09.2023.)

This article reviews evolving legal implications for clinicians and researchers as genomics is used more widely in both the clinic and in translational research, reflecting rapid changes in scientific knowledge as well as the surrounding cultural and political environment. Professionals will face new and changing duties to make or act upon a genetic diagnosis, address direct-to-consumer genetic testing in patient care, consider the health implications of results for patients' family members, and recontact patients when test results change over time. Professional duties in reproductive genetic testing will need to be recalibrated in response to disruptive changes to reproductive rights in the United States. We also review the debate over who controls the flow of genetic information and who is responsible for its protection, considering the globally influential European Union General Data Protection Regulation and the rapidly evolving data privacy law landscape of the United States.

The general public continues to show increased interest and uptake of Direct-to-Consumer (DTC) genetic testing. We conducted an online survey (N = 405) to assess genetics knowledge, interest, and outcome expectancy of DTC genetic testing before and after exposure to a sample DTC disclaimer message. Descriptive statistics were used to analyze the relationship between previous genetic knowledge, attitudes and self-reported systematic processing of a sample DTC disclaimer message, outcome expectancies, and interest to pursue DTC genetic testing. Increased genetic knowledge and more positive attitudes towards DTC genetic testing were associated with increased self-reported systematic processing of the DTC disclaimer message. Further, self-reported systematic processing of the DTC disclaimer message was associated with greater interest in pursuing DTC genetic testing but did not predict outcome expectancies. As DTC genetic testing continues to gain in popularity and usage, additional research is imperative to better understand participants' motivations and processing of the DTC disclaimer messages to improve the user experience., (© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.)

Preventable diseases and late diagnosis of disease impose great clinical and economic burden for health care systems, especially in the current juncture of rising medical expenditures. Under these circumstances, community pharmacies have been identified as accessible venues to receive preventive services. This umbrella review aims to examine existing evidence on the impact of community pharmacist-provided preventive services on clinical, utilization, and economic outcomes in the United States (US). We included systematic reviews, narrative reviews and meta-analyses published in English between January 2007 and October 2017. Of 2742 references identified by our search strategy, a total of 13 research syntheses met our inclusion criteria. Included reviews showed that community pharmacists are effective at increasing immunization rates, supporting smoking cessation, managing hormonal contraception therapies, and identifying patients at high risk for certain diseases. Moreover, evidence suggests that community pharmacies are especially well-positioned for the provision of preventive services due to their convenient location and extended hours of operation. There is general agreement on the positive impact of community pharmacists in increasing access to preventive health, particularly among patients who otherwise would not be reached by other healthcare providers. The provision of preventive services at US community pharmacies is feasible and effective, and has potential for improving patient outcomes and health system efficiency. However, high-quality evidence is still lacking. As the healthcare landscape shifts towards a value-based framework, it will be important to conduct robust studies that further evaluate the impact of community pharmacist-provided preventive services on utilization and economic outcomes. [ABSTRACT FROM AUTHOR]

Background: The use of direct-to-consumer genomic testing (DTCGT) is increasing, but this testing may not be comprehensive and may lack clinical validity and utility. The ethical constructs of beneficence, nonmaleficence, justice, and autonomy provide a framework for coordinating the care of patients and their families., Objectives: This article provides an overview of the DTCGT process and reviews the ethical implications that affect clinical care., Methods: A review of the literature was conducted using the following key words: genetics/genomics and direct-to-consumer testing. Common themes were identified, including test types, regulatory standards, marketing practices, ethics, privacy, and nursing implications., Findings: An increased awareness of the clinical and ethical consequences of DTCGT is needed among healthcare providers and the general population. Oncology nurses can assist patients in navigating the field of genomics through consistent and comprehensive risk assessment, patient education about the risks and benefits of DTCGT, and referral to genomics professionals when appropriate.

Direct-to-consumer genetic tests (DTC-GT) offer a variety of genetic health risk information. Understanding evidence of impacts is required for effective policy to protect consumers and healthcare services. We undertook a systematic review according to PRISMA guidelines, searching five literature databases for articles assessing analytic or clinical validity, or reporting consumer or healthcare professional experience with health risk information derived from DTC-GT, published between November 2014 and July 2020. We performed a thematic synthesis to identify descriptive and analytical themes. Forty-three papers met inclusion criteria. Many consumers submit raw DTC-GT data for third-party interpretation (TPI). DTC-GT sometimes report 'false positive' or incorrectly interpreted rare variants, or that such information can result from TPI. Consumers have high expectations of DTC-GT and TPI, and are broadly satisfied, although many do not act on results. A minority of consumers experience adverse psychological impacts. Healthcare consultations can be complex, and professionals have reservations about the validity and utility of DTC-GT-derived information. The contrast between consumer and health professional perceptions can result in mutual dissatisfaction with consultations. Health risk information from DTC-GT and TPI is broadly valued by consumers but presents complex challenges for healthcare services and some consumers., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Over-the-counter (OTC) and direct-to-consumer (DTC) tests have been gaining popularity due to their potential to provide accurate and quick diagnostic results without any test order from healthcare professionals, while providing patients the opportunity to actively engage in their own health management. Group A streptococcus is a common transmissible pathogen that leads to acute pharyngitis. Accurate and timely diagnosis of Group A streptococcus pharyngitis is critical to urge patients to seek professional healthcare, to support antibiotic stewardship, to reduce disease transmission, and to prevent rare but potentially life-threatening complications such as acute rheumatic fever, rheumatic heart disease, and poststreptococcal glomerulonephritis. This review provides an overview for OTC and DTC testing in general, discusses the clinical utilization of Group A streptococcus testing, analyzes the limitations and challenges of current Group A streptococcus testing methodologies if developed into OTC or DTC tests. Finally, this review provides an outlook for future developments that would further improve healthcare outcomes., (Copyright © 2022 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Direct-to-consumer genetic test (DTC-GT) has been developing into an enormous market in China. Though no existing laws are directly applicable to DTC-GT, relevant laws and regulations are gradually being improved. In this study, we discuss how China's legislative and juridical practices in the field of DTC-GT have led to it being strictly constrained. The continuous improvement of relevant private and public laws is increasingly strengthening the informed consent and data protection issues that are involved with DTC-GT.

Direct-to-consumer (DTC) genetic tests have become an attractive product for those hoping to gain insight into their health, ancestry, and biological relatedness. In some cases, test results are unexpected, and lead to the revelation of previously undisclosed family secrets. A subset of individuals may pursue testing explicitly for this purpose; however, the psychosocial processes underlying this motivation remain unexamined. Grounded in the literature on family secrecy, trauma, and the development of self-concept, we tested a hypothesized mediation model to provide insight into this motivation among a sample of 433 individuals in pursuit of DTC genetic testing. In line with the documented association between maladaptive family communication patterns and trauma exposure in childhood, we found that exposure to adverse childhood experiences was associated with the motivation to pursue DTC genetic testing for the purpose of uncovering family secrets. We also found evidence of an indirect effect through reduced self-concept clarity. These findings suggest that impaired identity formation processes may have played a role in transmitting the effect. Furthermore, the findings highlight a novel way in which family histories may contribute to DTC genetic testing motivations. Future examination of these and other psychosocial phenomena that contribute to DTC genetic testing will be crucial to consider as the tests become increasingly accessible, and as the information they can provide becomes increasingly comprehensive. Findings from this line of research could help to identify for whom and under what conditions DTC genetic testing benefits well-being, and the conditions under which the act of testing and receipt of results could have adverse psychosocial effects. These insights will be of interest to genetic counselors working in the field of DTC genetic testing, and those working with individuals and families affected by unexpected test results., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

People of African descent use direct-to-consumer genomics services such as 23andMe and AncestryDNA for various family histories and health reasons, including identifying and interacting with the previously unknown living African genetic relatives. In this commentary, I argue that it is reasonable to consider that cousin pairs consisting of an African person and a descendant of an African person enslaved in the Americans during the Transatlantic Slave Trade (i.e., a person of African descent) have genealogical ancestors recent enough to be detected using autosomal DNA testing where the pair has shared ancestors in the range of 20-6 generations ago from the present., (© 2023 Wiley Periodicals LLC.)