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1.
Am J Hum Genet ; 109(3): 486-497, 2022 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-35216680

RESUMO

In recent decades, genetic genealogy has become popular as a result of direct-to-consumer (DTC) genetic testing. Some DTC genetic testing companies offer genetic relative-finder (GRF) services that compare the DNA of consenting participants to identify genetic relatives among them and provide each participant a list of their relative matches. We surveyed a convenience sample of GRF service participants to understand the prevalence of discoveries and associated experiences. Almost half (46%) of the 23,196 respondents had participated in GRF services only for non-specific reasons that included interest in building family trees and general curiosity. However, most (82%) also learned the identity of at least one genetic relative. Separately, most respondents (61%) reported learning something new about themselves or their relatives, including potentially disruptive information such as that a person they believed to be their biological parent is in fact not or that they have a sibling they had not known about. Respondents generally reported that discovering this new information had a neutral or positive impact on their lives, and most had low regret regarding their decision to participate in GRF services. Yet some reported making life changes as a result of their discoveries. Compared to respondents making other types of discoveries, those who learned that they were donor conceived reported the highest decisional regret and represented the largest proportion reporting net-negative consequences for themselves. Our findings indicate that discoveries from GRF services may be common and that the consequences for individuals, while generally positive, can be far-reaching and complex.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Comportamento Exploratório , Humanos , Linhagem , Inquéritos e Questionários
3.
Clin Exp Dermatol ; 47(3): 547-552, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34655248

RESUMO

BACKGROUND: Allergy is increasingly reported by patients and members of the public, and there is evidence that the prevalence is increasing. Not all diagnoses have been made by clinicians, as direct-to-consumer (DTC) allergy tests are widely available online. AIM: To determine if DTC allergy tests are processed in accredited laboratories and utilize validated methods, while providing an overview of the DTC allergy tests available. METHODS: Internet searches using 'allergy test kit' and 'intolerance test' were performed to identify DTC food-allergy tests. Each company was contacted to enquire if they had ISO15189 accreditation, what methods of testing they used and what was the extent of individual clinical input used to guide the test requested or result interpretation. RESULTS: In total, 24 online companies providing DTC food-allergy testing were identified, of which 22 were contactable. One laboratory had ISO15189 accreditation, which was also the only laboratory using clinically recognized specific IgE testing and had a clinician involved in the process. Other laboratories used bioresonance or IgG and involved a nutritionist at most. CONCLUSION: Online DTC food-allergy tests are largely misleading to the consumer and provided by unaccredited laboratories using controversial methodology. The dermatologist must politely discount these results and assess the role of food allergy in a patient's skin disease on the merit of clinical history, supported by specific IgE testing as appropriate.


Assuntos
Triagem e Testes Direto ao Consumidor/normas , Hipersensibilidade Alimentar/diagnóstico , Acreditação , Comportamento do Consumidor , Humanos , Imunoglobulina E/sangue , Reino Unido
4.
Chest ; 161(2): 373-381, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34656525

RESUMO

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Underrecognition has prompted efforts to enhance early detection and testing of at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection. RESEARCH QUESTION: The study addressed three questions: (1) Does a DTC testing service identify previously undetected individuals with AATD? (2) What was the interval between initial AATD-related symptoms and initial diagnosis of AATD in such individuals? and (3) What was the behavioral impact of learning about a new diagnosis of AATD through a DTC test? STUDY DESIGN AND METHODS: In this cross-sectional study, 195,014 individuals responded to a survey within the 23andMe, Inc. research platform. RESULTS: Among 195,014 study participants, the allele frequency for the PI∗S and PI∗Z AATD variants was 21.6% (6.5% for PI∗Z and 15.1% for PI∗S); 0.63% were PI∗ZZ, half of whom reported having a physician confirm the diagnosis. Approximately 27% of those with physician-diagnosed AATD reported first becoming aware of AATD through the DTC test. Among those newly aware participants, the diagnostic delay interval was 22.3 years. Participants frequently shared their DTC test results with health care providers (HCPs) and the reported impact of learning a diagnosis of AATD was high. For example, 51.1% of PI∗ZZ individuals shared their DTC result with an HCP. The OR for PI∗ZZ smokers to report smoking reduction as a result of receiving the DTC result was 1.7 (95% CI = 1.4-2.2) compared with those without a Z allele and for reduced alcohol consumption this was 4.0 (95% CI = 2.6-5.9). INTERPRETATION: In this largest available report on DTC testing for AATD, this test, in combination with clinical follow-up, can help to identify previously undiagnosed AATD patients. Moreover, receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Autorrelato , Deficiência de alfa 1-Antitripsina/epidemiologia , Deficiência de alfa 1-Antitripsina/genética , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência
5.
Dermatology ; 238(1): 27-34, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33849022

RESUMO

BACKGROUND: Mobile teledermoscopy is an emerging technology that involves imaging and digitally sending dermoscopic images of skin lesions to a clinician for assessment. High-quality, consistent images are required for accurate telediagnoses when monitoring lesions over time. To date there are no tools to assess the quality of sequential images taken by consumers using mobile teledermoscopy. The purpose of this study was to develop a tool to assess the quality of images acquired by consumers. METHODS: Participants imaged skin lesions that they felt were concerning at baseline, 1-, and 2-months. A checklist to assess the quality of consumer sequential imaging of skin lesions was developed based on the International Skin Imaging Collaboration guidelines. A scale was implemented to grade the quality of the images: 0 (low) to 18 (very high). Intra- and inter-reliability of the checklist was assessed using Bland-Altman analysis. Using this checklist, the consistency with which 85 sets of images were scored by 2 evaluators were compared using Kappa statistics. Items with a low Kappa value <0.4 were removed. RESULTS: After reliability testing, 5 of the items were removed due to low Kappa values (<0.4) and the final checklist included 13 items surveying: lesion selection; image orientation; lighting; field of view; focus and depth of view. Participants had a mean age of 41 years (range 19-73), and 67% were female. Most participants (84%, n = 71/85) were able to select and image the correct lesion over time for both the dermoscopic and overview images. Younger participants (<40 years old) scored significantly higher (8.1 ± 2.1) on the imaging checklist compared to older participants (7.1 ± 2.4; p = 0.037). Participants had most difficulty with consistent image orientation. CONCLUSIONS: This checklist could be used as a triage tool to filter images acquired by consumers prior to telediagnosis evaluation, which would improve the efficiency and accuracy of teledermatology and teledermoscopy processes. It may also be used to provide feedback to the consumers to improve image acquisition over time.


Assuntos
Lista de Checagem , Dermoscopia/normas , Triagem e Testes Direto ao Consumidor/normas , Dermatopatias/diagnóstico , Telemedicina/normas , Adulto , Dermoscopia/métodos , Triagem e Testes Direto ao Consumidor/métodos , Detecção Precoce de Câncer/métodos , Detecção Precoce de Câncer/normas , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Neoplasias Cutâneas/diagnóstico , Smartphone , Telemedicina/métodos , Triagem/métodos
6.
Eur J Hum Genet ; 30(1): 62-72, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33840815

RESUMO

Despite the widespread diffusion of direct-to-consumer genetic testing (GT), it is still unclear whether people who learn about their genetic susceptibility to a clinical condition change their behaviors, and the psychological factors involved. The aim of the present study is to investigate long-term changes in health-related choices, individual tendencies and risk attitudes in an Italian sample of GT users. In the context of the Mind the Risk study, which investigated a sample of Italian adults who underwent GT in a private laboratory, 99 clients participated in the follow up assessment. They completed a self-administered questionnaire investigating: (a) clinical history and motivation for testing, (b) lifestyle and risk behaviors, (c) individual tendencies toward health, and (d) risk-taking attitude and risk tolerance. Such variables were measured at three different time-points: T0-before GT, T1-at 6 months after genetic results, and T2-at 1 year from results. Results showed that, at baseline, participants who stated they intended to modify their behavior after GT results, effectively did so over time. This result held both for participants who received a positive or negative test result. In general, a healthier diet was the most frequently observed long-term behavioral change. As regards psychological variables, a risk-taking attitude and risk tolerance did not seem to affect the decision to change the lifestyle. Finally, we found an overall reduction in anxiety and worry over health over time, but also a reduction in the motivation for health promotion and prevention, health esteem, and positive expectations for their health in the future.


Assuntos
Atitude , Triagem e Testes Direto ao Consumidor/psicologia , Testes Genéticos/métodos , Comportamentos Relacionados com a Saúde , Adolescente , Adulto , Idoso , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Setor Privado
7.
Eur J Hum Genet ; 30(1): 81-87, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34276054

RESUMO

We sought to explore individuals' motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a cross-sectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs, and two validated scales regarding reactions to results-the Impact of Event Scale Revised (IES-R) and the Feelings About genomiC Testing Results (FACToR). Independent samples T-tests and ANOVA were used to explore associations between the variables. 227 individuals participated in the study. The most frequently reported motivation was general curiosity (98.2%). Only 25.6% of participants correctly answered all questions assessing understanding/interpretation of PRSs. Over half of participants (60.8%) experienced a negative reaction (upset, anxious, and/or sad on FACToR scale) after receiving their PRSs and 5.3% scored over the threshold for potential post-traumatic stress disorder on the IES-R. Lower understanding about PRS was associated with experiencing a negative psychological reaction (P values <0.001). Higher quality pre-test information, particularly to improve understanding, and manage expectations for PRS may be useful in limiting negative psychological reactions.


Assuntos
Predisposição Genética para Doença/psicologia , Letramento em Saúde , Motivação , Herança Multifatorial , Adulto , Idoso , Triagem e Testes Direto ao Consumidor/psicologia , Revelação , Feminino , Testes Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade
8.
Artigo em Inglês | MEDLINE | ID: mdl-34886058

RESUMO

The clinical impact of direct-to-consumer genetic testing (DTC-GT) on health behavior change has remained controversial. The aim of this study is to clarify the short-term effects of DTC-GT on gynecological cancer screening uptake among middle-aged never-screened Japanese women in a randomized controlled trial (RCT). A total of 144 women aged 45-50 who had never undergone gynecological cancer screening were randomly selected to receive health education (control group), or health education and DTC-GT (intervention group), at a 1:1 ratio. We compared the gynecological screening uptake during the follow-up period. Furthermore, to estimate the impact of learning of an elevated genetic cancer risk in the intervention group, we conducted an analysis dichotomized by genetic risk category. A total of 139 women completed the one-year follow-up survey (69 in the control group and 70 in the intervention group). The follow-up period did not differ between control and intervention groups (the median follow-up period was 276 days and 279 days, respectively, p = 0.746). There were 7 (9.7%) women in the control group and 10 (13.9%) in the intervention group who attended breast cancer screening (p = 0.606), and 9 (12.5%) women from both groups attended cervical cancer screening (p = 1.000). Likewise, there were no significant differences in cancer screening uptake in the analysis stratified by risk category within the intervention group. In conclusion, there was no significant effect of DTC-GT on gynecological cancer screening uptake in this RCT setting. Increasing cancer screening attendance may require a combination of well-established intervention strategies and DTC-GT. Clinical Trial Registration: UMIN-CTR Identifier, UMIN000031709.


Assuntos
Triagem e Testes Direto ao Consumidor , Neoplasias do Colo do Útero , Detecção Precoce de Câncer , Feminino , Testes Genéticos , Humanos , Programas de Rastreamento , Pessoa de Meia-Idade
9.
PLoS One ; 16(11): e0260340, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34843533

RESUMO

Direct-to-consumer genetic testing is marketed as a tool to uncover ancestry and kin. Recent studies of actual and potential users have demonstrated that individuals' responses to the use of these tests for these purposes are complex, with privacy, disruptive consequences, potential for misuse, and secondary use by law enforcement cited as potential concerns. We conducted six focus groups with a diverse sample of participants (n = 62) who were aware of but had not used direct-to-consumer genetic tests, in an effort to understand more about what people considering these tests think about the potential value, risks, and benefits of such testing, taking into account use by third parties, such as potential kin and law enforcement. Participants differed widely in the perceived value of direct-to-consumer genetic tests for ancestry and kinship information for their own lives, including the desirability of contact with previously unknown relatives. Some perceived ancestry testing as mere curiosity or entertainment, while others, particularly those who had gaps in their family history, few living relatives, or who were adopted, saw greater value. Concerns about intrusion into one's life by purported kin and control of data were widespread, with many participants expressing concern about secondary uses of data that could harm users or their families. The use of direct-to-consumer genetic tests data for forensic genealogy elicited a particularly wide array of reactions, both spontaneously and in response to specific discussion prompts, mirroring the current public debate about law enforcement access to such data. The themes uncovered through our investigation warrant specific attention in the continued development of the science, policy, and practice of commercial direct-to-consumer genetic testing.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Adulto , Idoso , Comportamento Exploratório , Família , Feminino , Grupos Focais , Humanos , Aplicação da Lei , Masculino , Pessoa de Meia-Idade , Privacidade , Adulto Jovem
11.
MMWR Morb Mortal Wkly Rep ; 70(38): 1322-1325, 2021 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-34555001

RESUMO

During 2019, approximately 34,800 new HIV infections occurred in the United States (1), and it is estimated that approximately 80% of HIV transmission occurs from persons who either do not know they have HIV infection or are not receiving regular care (2). Since 2006, CDC has recommended that persons who are disproportionately affected by HIV (including men who have sex with men [MSM]) should test for HIV at least annually (3,4). However, data from multiple sources indicate that these recommendations are not being fully implemented (5,6). TakeMeHome, a novel public-private partnership to deliver HIV self-testing kits to persons seeking HIV testing in the United States, was launched during March 2020 as home care options for testing became increasingly important during the COVID-19 pandemic. The initiation of the program coincided with the national COVID-19 Public Health Emergency declaration, issuance of stay-at-home orders, and other restrictions that led to disruption of traditional HIV testing services. During March 31, 2020-March 30, 2021, 17 state and local health departments participating in the program allowed residents of their jurisdictions to order test kits. Marketing for TakeMeHome focused on reaching gay, bisexual, and MSM through messages and embedded links in gay dating applications. Most participants in the program reported that they had either never tested for HIV (36%) or that they had last tested >1 year before receiving their self-test kit (56%). After receiving the self-test kit, >10% of respondents reported accessing additional prevention services. Health departments can increase options for HIV testing by distributing publicly funded self-test kits to persons without proximate access to clinic-based testing or who prefer to test at home. Increased and regular HIV testing among MSM will help meet annual testing goals.


Assuntos
Triagem e Testes Direto ao Consumidor , Teste de HIV/estatística & dados numéricos , Acesso aos Serviços de Saúde/estatística & dados numéricos , Autoteste , Adolescente , Adulto , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Teste de HIV/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Estados Unidos/epidemiologia , Adulto Jovem
13.
BMC Res Notes ; 14(1): 282, 2021 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-34301328

RESUMO

OBJECTIVE: In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals. RESULTS: A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Association Study (PheWAS) was performed to find association between pre-selected drug target genes and all the phenotypes. Association was found between GRIN2B and multiple phenotypes related to depression, which is considered reliable based on previous reports on the biological function of GRIN2B protein and its relationship with depression. These results suggest possibility of using SNPs and phenotype information collected from healthy individuals as a translational research tool for drug discovery to find relationship between a gene and a disease if it is possible to extract individuals in pre-disease states by properly designed questionnaire.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Estudo de Associação Genômica Ampla , Aldeído-Desidrogenase Mitocondrial , Humanos , Japão , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores de N-Metil-D-Aspartato
14.
Genes (Basel) ; 12(6)2021 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-34200049

RESUMO

Databases of commercial DNA-testing companies now contain more customers with sequenced DNA than any completed academic study, leading to growing interest from academic and forensic entities. An important result for both these entities and the test takers themselves is how closely two individuals are related in time, as calculated through one or more molecular clocks. For Y-DNA, existing interpretations of these clocks are insufficiently accurate to usefully measure relatedness in historic times. In this article, I update the methods used to calculate coalescence ages (times to most-recent common ancestor, or TMRCAs) using a new, probabilistic statistical model that includes Y-SNP, Y-STR and ancilliary historical data, and provide examples of its use.


Assuntos
Cromossomos Humanos Y/genética , Haplótipos , Modelos Genéticos , Linhagem , Tempo , Triagem e Testes Direto ao Consumidor/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Humanos , Masculino , Repetições de Microssatélites , Taxa de Mutação , Polimorfismo Genético
15.
Bioethics ; 35(8): 779-786, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34251674

RESUMO

Genomic data is growing in importance as scientific knowledge and technology develop, and in availability, as direct-to-consumer genomic health testing and recreational genealogy services become more widely utilized. Access to genomic data needs to be considered in light of individual privacy. Cross-sector use of genomic health and ancestry data, and by law enforcement in particular, raises ethical questions and requires appropriate regulation. This article discusses the significance of genomic data and focuses on investigative genetic genealogy, namely the use of genomic health and ancestry data to advance law enforcement, as an example of cross-sector use. An ethical framework is developed that contributes to a more principled approach to genomic data access.


Assuntos
Triagem e Testes Direto ao Consumidor , Privacidade Genética , Testes Genéticos , Genômica , Humanos , Linhagem
16.
J Am Assoc Nurse Pract ; 34(2): 381-388, 2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34107502

RESUMO

ABSTRACT: Direct-to-consumer genetic and genomic testing (DTCGT) has paved the way for consumers to gain information about their genetic makeup. Consumers may seek DTCGT to estimate ethnic background, identify genetic relations, or obtain raw DNA information that can be used for other purposes, such as testing for paternity and identifying genetically linked illnesses. Despite robust progress in genetic and genomic testing, most people have a low exposure threshold to DTCGT. Patient consumers may unnecessarily experience anxiety if they do not have a health care provider (HCP) to consult and review their results. Presently, there is a knowledge gap in how accurately HCPs can interpret and communicate genetic test results to patients compared with genetic specialists who may be inaccessible to underserved populations. Genetic and genomic information is rapidly progressing in health care and can identify patients at increased risk for certain diseases and improve patient care and outcomes. Appropriate use of genetic and genomic testing and knowing the limitations and difficulties of current testing available are integral to the success of HCPs in using these results in health promotion and improving quality of life. Health care providers should be aware of DTCGT recommendations and implications for patients, be prepared to counsel patients who present with testing results in hand, seeking advisement, and be competent in determining the need for further diagnostic testing or referral to a specialist genetic counselor.


Assuntos
Triagem e Testes Direto ao Consumidor , Qualidade de Vida , Testes Genéticos , Genômica , Pessoal de Saúde , Humanos
18.
JAMA Cardiol ; 6(8): 902-909, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34037665

RESUMO

Importance: Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing can identify affected individuals, but some array-based assays screen only a small subset of known pathogenic variants. Objective: To identify the number of clinically significant variants associated with FH that would be missed by an array-based, limited-variant screen when compared with next-generation sequencing (NGS)-based comprehensive testing. Design, Setting, and Participants: This cross-sectional study compared comprehensive genetic test results for clinically significant variants associated with FH with results for a subset of 24 variants screened by a limited-variant array. Data were deidentified next-generation sequencing results from indication-based or proactive gene panels. Individuals receiving next-generation sequencing-based genetic testing, either for an FH indication between November 2015 and June 2020 or as proactive health screening between February 2016 and June 2020 were included. Ancestry was reported by clinicians who could select from preset options or enter free text on the test requisition form. Main Outcomes and Measures: Number of pathogenic or likely pathogenic (P/LP) variants identified. Results: This study included 4563 individuals who were referred for FH diagnostic testing and 6482 individuals who received next-generation sequencing of FH-associated genes as part of a proactive genetic test. Among individuals in the indication cohort, the median (interquartile range) age at testing was 49 (32-61) years, 55.4% (2528 of 4563) were female, and 63.6% (2902 of 4563) were self-reported White/Caucasian. In the indication cohort, the positive detection rate would have been 8.4% (382 of 4563) for a limited-variant screen compared with the 27.0% (1230 of 4563) observed with the next-generation sequencing-based comprehensive test. As a result, 68.9% (848 of 1230) of individuals with a P/LP finding in an FH-associated gene would have been missed by the limited screen. The potential for missed findings in the indication cohort varied by ancestry; among individuals with a P/LP finding, 93.7% (59 of 63) of self-reported Black/African American individuals and 84.7% (122 of 144) of Hispanic individuals would have been missed by the limited-variant screen, compared with 33.3% (4 of 12) of Ashkenazi Jewish individuals. In the proactive cohort, the prevalence of clinically significant FH variants was approximately 1:191 per the comprehensive test, and 61.8% (21 of 34) of individuals with an FH-associated P/LP finding would have been missed by a limited-variant screen. Conclusions and Relevance: Limited-variant screens may falsely reassure the majority of individuals at risk for FH that they do not carry a disease-causing variant, especially individuals of self-reported Black/African American and Hispanic ancestry.


Assuntos
Testes Genéticos/métodos , Hiperlipoproteinemia Tipo II/diagnóstico , Diagnóstico Ausente/estatística & dados numéricos , Adolescente , Adulto , Afro-Americanos/genética , Triagem e Testes Direto ao Consumidor/métodos , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Hiperlipoproteinemia Tipo II/genética , Judeus/genética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto Jovem
19.
J Genet Couns ; 30(6): 1640-1648, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33938075

RESUMO

Direct-to-consumer genetic testing (DTCGT) is gaining popularity in Hong Kong (HK). As DTCGT forgoes specialist medical involvement, healthcare professionals have raised concerns regarding its validity, utility, and the public's ability to interpret DTCGT results. Thus, genetic counseling (GC) is recommended to facilitate understanding of DTCGT. This study aimed to investigate HK public's perception toward DTCGT and the importance of GC in DTCGT. A total of 304 HK adults were invited to complete a 37-item survey online. Participants' genomic literacy, understanding and attitude toward DTCGT and GC, and responses to a mock DTCGT scenario were assessed. 48% of participants were aware of DTCGT while 82% indicated an interest. 30% of participants were aware of GC services in HK; 49% were interested in GC services for understanding DTCGT results. Participants scored on average 7.6/11 in the genomic sequencing knowledge scale and were weak in limitations of genomic testing. In the mock DTCGT scenario, 73% of participants expressed concern with the positive results initially. After being explained limitations of DTCGT, 40% of participants reported decreased concern. Reduced perceived helpfulness in medical management and lifestyle modification were also reported by 35% and 27%, respectively. This HK population demonstrated a high level of awareness and interest in DTCGT. As potential DTCGT users, they might experience excess concern and overestimate the usefulness of positive DTCGT results, particularly in medical management. The importance of GC to educate and guide interpretation of DTCGT results is supported; yet the awareness and access of GC services is inadequate in HK.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Adulto , Aconselhamento Genético , Testes Genéticos/métodos , Hong Kong , Humanos , Percepção
20.
Alcohol Clin Exp Res ; 45(5): 1091-1099, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33966283

RESUMO

BACKGROUND: Although alcohol breath testing devices that pair with smartphones are promoted for the prevention of alcohol-impaired driving, their accuracy has not been established. METHODS: In a within-subjects laboratory study, we administered weight-based doses of ethanol to two groups of 10 healthy, moderate drinkers aiming to achieve a target peak blood alcohol concentration (BAC) of 0.10%. We obtained a peak phlebotomy BAC and measured breath alcohol concentration (BrAC) with a police-grade device (Intoxilyzer 240) and two randomly ordered series of 3 consumer smartphone-paired devices (6 total devices) with measurements every 20 min until the BrAC reached <0.02% on the police device. Ten participants tested the first 3 devices, and the other 10 participants tested the other 3 devices. We measured mean paired differences in BrAC with 95% confidence intervals between the police-grade device and consumer devices. RESULTS: The enrolled sample (N = 20) included 11 females; 15 white, 3 Asian, and 2 Black participants; with a mean age of 27 and mean BMI of 24.6. Peak BACs ranged from 0.06-0.14%. All 7 devices underestimated BAC by >0.01%, though the BACtrack Mobile Pro and police-grade device were consistently more accurate than the Drinkmate and Evoc. Compared with the police-grade device measurements, the BACtrack Mobile Pro readings were consistently higher, the BACtrack Vio and Alcohoot measurements similar, and the Floome, Drinkmake, and Evoc consistently lower. The BACtrack Mobile Pro and Alcohoot were most sensitive in detecting BAC driving limit thresholds, while the Drinkmate and Evoc devices failed to detect BAC limit thresholds more than 50% of the time relative to the police-grade device. CONCLUSIONS: The accuracy of smartphone-paired devices varied widely in this laboratory study of healthy participants. Although some devices are suitable for clinical and research purposes, others underestimated BAC, creating the potential to mislead intoxicated users into thinking that they are fit to drive.


Assuntos
Concentração Alcoólica no Sangue , Testes Respiratórios/instrumentação , Triagem e Testes Direto ao Consumidor , Smartphone , Adulto , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Adulto Jovem
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