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1.
Genet Med ; 26(8): 101160, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38733246

RESUMO

PURPOSE: This study explored employee health behavior changes and health care utilization after workplace genetic testing (wGT). Wellness-program-associated wGT seeks to improve employee health, but the related health implications are unknown. METHODS: Employees of a large US health care system offering wGT (cancer, heart disease, and pharmacogenomics [PGx]) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, whereas logistic regression analyses explored correlates of responses to wGT. RESULTS: 53.9% (n = 418/776) of respondents (88.3% female, mean age = 44 years) reported receiving wGT results. 12.0% (n = 48/399) received results indicating increased risk (IR) of cancer, 9.5% (n = 38/398) had IR of heart disease, and 31.4% (n = 125/398) received informative PGx results. IR results for cancer and/or heart disease (n = 67) were associated with health behavior changes (adjusted odds ratio: 3.23; 95% CI 1.75, 6.13; P < .001) and health care utilization (adjusted odds ratio: 8.60; 95% CI 4.43, 17.5; P < .001). Informative PGx results (n = 125) were associated with medication changes (PGx-informative: 15.2%; PGx-uninformative: 4.8%; P = .002). CONCLUSION: This study explored employee responses to wGT, contributing to the understanding of the ethical and social implications of wGT. Receiving IR results from wGT may promote health behavior changes and health care utilization in employees.

2.
JAMA Netw Open ; 7(4): e246805, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38625702

RESUMO

Importance: Genetic researchers must have access to databases populated with data from diverse ancestral groups to ensure research is generalizable or targeted for historically excluded communities. Objective: To determine genetic researchers' interest in doing research with diverse ancestral populations, which database stewards offer adequate samples, and additional facilitators for use of diverse ancestral data. Design, Setting, and Participants: This survey study was conducted from June to December 2022 and was part of an exploratory sequential mixed-methods project in which previous qualitative results informed survey design. Eligible participants included genetic researchers who held US academic affiliations and conducted research using human genetic databases. Exposure: Internet-administered survey to genetic research professionals. Main Outcomes and Measures: The survey assessed respondents' experience and interest in research with diverse ancestral data, perceptions of adequacy of diverse data across database stewards (ie, private, government, or consortia), and identified facilitators for encouraging use of diverse ancestral data. Descriptive statistics, χ2 tests, and z tests were used to describe respondents' perspectives and experiences. Results: A total of 294 researchers (171 men [58.5%]; 121 women [41.2%]) were included in the study, resulting in a response rate of 20.4%. Across seniority level, 109 respondents (37.1%) were senior researchers, 85 (28.9%) were mid-level researchers, 71 (24.1%) were junior researchers, and 27 (9.2%) were trainees. Significantly more respondents worked with data from European ancestral populations (261 respondents [88.8%]) compared with any other ancestral population. Respondents who had not done research with Indigenous ancestral groups (210 respondents [71.4%]) were significantly more likely to report interest in doing so than not (121 respondents [41.2%] vs 89 respondents [30.3%]; P < .001). Respondents reported discrepancies in the adequacy of ancestral populations with significantly more reporting European samples as adequate across consortium (203 respondents [90.6%]), government (200 respondents [89.7%]), and private (42 respondents [80.8%]) databases, compared with any other ancestral population. There were no significant differences in reported adequacy of ancestral populations across database stewards. A majority of respondents without access to adequate diverse samples reported that increasing the ancestral diversity of existing databases (201 respondents [68.4%]) and increasing access to databases that are already diverse (166 respondents [56.5%]) would increase the likelihood of them using a more diverse sample. Conclusions and Relevance: In this survey study of US genetic researchers, respondents reported existing databases only provide adequate ancestral samples for European populations, despite their interest in other ancestral populations. These findings suggest there are specific gaps in access to and composition of genetic databases, highlighting the urgent need to boost diversity in research samples to improve inclusivity in genetic research practices.


Assuntos
Governo , Povos Indígenas , Masculino , Humanos , Feminino , Bases de Dados Factuais , Internet , Probabilidade
3.
Glomerular Dis ; 3(1): 178-188, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37901694

RESUMO

Introduction: There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic providers with whom to partner and a general lack of support services for all clinicians. Methods: We administered a survey in March 2022 to assess the current ability and ongoing needs of nephrology divisions to return clinically significant research genetic results to patients and to implement clinical genetic testing. This survey was distributed to institutions within the Nephrotic Syndrome Study Network (NEPTUNE) as part of the planning process for return of research genetic results to participants with pathogenic variants in Mendelian nephrotic syndrome genes. Results: Twenty-seven of 28 sites (96%) completed the survey. 59% (n = 16) of sites said they could handle return of research genetic results independently, with the rest expressing hesitation about the volume and complexity of patients and the limited resources and access to genetics services. 81% (n = 22) of these institutions did have a genetics clinic and 26% (n = 7) have a nephrology genetics clinic. However, 70% (n = 10) of these clinics have a waiting time over 1 month. 89% of divisions (n = 24) were conducting genetic testing and 96% of those (n = 23) used a kidney multi-gene panel. In 46% of divisions (n = 11), nephrologists were handling logistics of obtaining genetic testing samples themselves. Conclusion: We identified specific areas of support needed for return of clinically significant genetic results from research studies. While the surveyed nephrologists were conducting genetic testing, there were limitations in the support services available. This survey will help guide other research studies that wish to return genetic results to participants and also highlight the need for increasing support to effectively operationalize genetic testing in nephrology clinics.

5.
Alzheimer Dis Assoc Disord ; 37(3): 237-242, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37615487

RESUMO

BACKGROUND: Purposeful social interactions are important for healthy aging. We conducted a pilot trial of SPEAK! (Seniors Promoting English Acquisition and Knowledge), an intervention providing older volunteers with a safe, accessible opportunity to converse via webcam with English-language learners. METHODS: A neurologically mixed sample of older adults was randomized to 8 weekly, webcam conversations with English-language learners or a waitlist control. Outcomes included the Cognitive Change Index (CCI) and surveys of program satisfaction. Here, we report on session completion, intervention satisfaction, and follow-up CCI scores. Exploratory analyses of CCI intervention effects controlled for baseline CCI scores and the interaction between group and baseline CCI. RESULTS: Participants (N=38) were on average 70.8 years of age, 28/38 were White, and 16/38 demonstrated possible cognitive impairment on the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). Pairs completed 115/136 sessions (85%) and all volunteers said they would recommend the program. Controlling for the interaction between baseline CCI and randomization group, SPEAK! volunteers had better follow-up CCI scores than controls (P=0.018). Improvements in CCI were greater among participants with fewer baseline memory problems. CONCLUSIONS: SPEAK! was feasible and appreciated by older adults with and without cognitive impairment. Larger studies should confirm benefits for memory and other determinants of quality of life.


Assuntos
Qualidade de Vida , Voluntários , Idoso , Humanos , Cognição , Satisfação Pessoal , Projetos Piloto
6.
Mol Genet Genomic Med ; 11(11): e2245, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37592452

RESUMO

BACKGROUND: Workplace genetic and/or genomic testing (wGT) is one of many options that employers can offer within the scope of voluntary workplace wellness programs, though we know little about how many employers are offering this benefit, or what kinds of testing are included. METHODS: Our landscaping review sought to discover the prevalence and distribution of wGT within voluntary wellness programs among U.S. companies using three approaches: (1) analysis of publicly available information; (2) national surveys; and (3) interviews with company representatives. RESULTS: In total, 50/420 (11.9%) companies we investigated had publicly available data suggesting that they offer wGT to their employees. Survey data weighted to be representative of the type and distribution of U.S. companies suggest that ~1% of U.S. companies offer wGT to their employees. CONCLUSION: Our research found little evidence of broad uptake of wGT among U.S. companies, though information gathering was challenging.


Assuntos
Promoção da Saúde , Local de Trabalho , Humanos , Inquéritos e Questionários , Testes Genéticos
7.
Front Public Health ; 11: 1062385, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37081958

RESUMO

Background: The COVID-19 pandemic's impact on our personal and professional lives required a rapid adaptation to the evolving health crisis and accumulating social stresses. Established measures to reduce the spread of infection and potential death had a direct effect on ongoing research that involved older adults and underrepresented racial/ethnic groups. Although important to preserve public health, these measures risk further isolation of vulnerable research participant populations and threatened established community partnerships. To address the social and research challenges evolving from the COVID-19 pandemic, four National Institutes of Health funded-Centers that engage with community members to enhance research and advance the science of aging came together to learn from each other's efforts, approaches, and communication with community partners. Methods: Monthly meetings served as a venue to discuss the challenges of engagement with research participants and support community partners during the pandemic. The developed learning community also contributed to recognize and address research staff stress and isolation. We describe how these conversations led our Centers to address unprecedented challenges and sustain community engagement within diverse populations, especially Black/African Americans, Latinos, Middle Eastern/Arab Americans and the oldest-old. Results: The exchange of information resulted in maintaining long standing community relationships and partnerships in the face of the uncertainties generated by the pandemic. The strategies included adapting education programs to reduce risk of infection, recognizing symptoms, promoting vaccination and understanding of the effect of COVID-19 to the brain. Different strategies were used to address the effects of isolation and maintain community engagement. Although new research participant enrollment was a challenge, telephone and virtual visits allowed research participants to remain active in research. Community members participation in virtual learning events was variable, ranging from a dozen to hundreds of participants. Invitations to organize panels about newly developed topics indicated the need for information from trusted sources. Conclusion: In sum, the COVID-19 pandemic re - directed all four Centers' commitment to community service led to developing strategies for social support, which will potentially contribute to transforming public perceptions about research and researchers.


Assuntos
COVID-19 , Humanos , Estados Unidos/epidemiologia , Idoso , Idoso de 80 Anos ou mais , COVID-19/epidemiologia , Pandemias , Gerociência , Participação da Comunidade/métodos , National Institutes of Health (U.S.)
8.
Trials ; 24(1): 105, 2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36765432

RESUMO

BACKGROUND: Although most cancers are sporadic, germline genetic variants are implicated in 5-10% of cancer cases. Clinical genetic testing identifies pathogenic germline genetic variants for hereditary cancers. The Michigan Genetic Hereditary Testing (MiGHT) study is a three-arm randomized clinical trial that aims to test the efficacy of two patient-level behavioral interventions on uptake of cancer genetic testing. METHODS: The two interventions being tested are (1) a virtual genetics navigator and (2) motivational interviewing by genetic health coaches. Eligible participants are adults with a diagnosis of breast, prostate, endometrial, ovarian, colorectal, or pancreatic cancer who meet the National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Participants are recruited through community oncology practices affiliated with the Michigan Oncology Quality Consortium (MOQC) and have used the Family Health History Tool (FHHT) to determine testing eligibility. The recruitment goal is 759 participants, who will be randomized to usual care or to either the virtual genetics navigator or the motivational interviewing intervention arms. The primary outcome will be the proportion of individuals who complete germline genetic testing within 6 months. DISCUSSION: This study addresses patient-level factors which are associated with the uptake of genetic testing. The study will test two different intervention approaches, both of which can help address the shortage of genetic counselors and improve access to care. TRIAL REGISTRATION: This study has been approved by the Institutional Review Board of the University of Michigan Medical School (HUM00192898) and registered in ClinicalTrials.gov (NCT05162846).


Assuntos
Entrevista Motivacional , Neoplasias , Masculino , Adulto , Humanos , Michigan , Testes Genéticos , Oncologia , Ensaios Clínicos Controlados Aleatórios como Assunto
9.
Alzheimer Dis Assoc Disord ; 37(2): 149-151, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35984743

RESUMO

Social interactions have cognitive and emotional benefits for older adults with mild cognitive impairment (MCI). The prevalence of loneliness and isolation in this population has been repeatedly noted, but interventions remain limited. We designed a program to connect older adults with MCI with an engaging volunteering opportunity, through videoconferencing conversations with another adult practicing English (English language learner). Ten MCI-English language learner pairs had conversation sessions over 6 weeks. We tracked session engagement, monitored conversations, and interviewed participants at follow-up. Pairs completed 78% of scheduled sessions; only 7% were missed because the MCI participant canceled or failed to appear. Qualitative interviews suggested that participants felt comfortable and engaged. No negative experiences were observed or reported. This program is feasible and potentially desirable for older adults with MCI. This model is interesting given the concern about in-person volunteering risks, and the millions of people motivated to improve English fluency.


Assuntos
Disfunção Cognitiva , Humanos , Idoso , Projetos Piloto , Disfunção Cognitiva/psicologia , Emoções , Voluntários
10.
Genet Med ; 25(1): 115-124, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36371759

RESUMO

PURPOSE: Genetic researchers' selection of a database can have scientific, regulatory, and ethical implications. It is important to understand what is driving database selection such that database stewards can be responsive to user needs while balancing the interests of communities in equitably benefiting from advances. METHODS: We conducted 23 semistructured interviews with US academic genetic researchers working with private, government, and collaboratory data stewards to explore factors that they consider when selecting a genetic database. RESULTS: Interviewees used existing databases to avoid burdens of primary data collection, which was described as expensive and time-consuming. They highlighted ease of access as the most important selection factor, integrating concepts of familiarity and efficiency. Data features, such as size and available phenotype, were also important. Demographic diversity was not originally cited by any interviewee as a pivotal factor; when probed, most stated that the option to consider diversity in database selection was limited. Database features, including integrity, harmonization, and storage were also described as key components of efficient use. CONCLUSION: There is a growing market and competition between genetic data stewards. Data need to be accessible, harmonized, and administratively supported for their existence to be translated into use and, in turn, result in scientific advancements across diverse communities.


Assuntos
Disseminação de Informação , Pesquisadores , Humanos
11.
Gerontol Geriatr Med ; 8: 23337214221117431, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35966640

RESUMO

Effective, scalable mental health programs are greatly needed for older adults. In this study, Mood Lifters-a peer-led, community-based program promoting mental well-being-was adapted to more specifically address the needs of older adults. Two groups completed the 14-week program via Zoom. A total of 24 participants enrolled (M age = 72 years), with 20 (83%) completing the program. Compared to baseline, program completers showed significant improvements in depression symptoms (p < .01), perceived stress (p = .04), sleep quality (p < .01), physical activity (p < .01), and brain health behaviors (p = .01), with improvements maintained at 1-month follow-up. No significant changes were reported in participants' anxiety, loneliness, or resilience. Participant ratings of program satisfaction were very high (M = 4.75/5). Results suggest Mood Lifters for Seniors is feasible to disseminate and acceptable to older adults, with preliminary evidence of benefits in several mental health domains. Future randomized trials with larger, more diverse samples are needed to confirm program benefits.

12.
Pediatr Blood Cancer ; 69(9): e29791, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35735208

RESUMO

Next-generation sequencing offers opportunities for targeted cancer therapies and may identify pathogenic germline variants. Adolescents' perception of testing is not well understood. We surveyed 16 adolescents and 59 parents regarding motivations, attitudes, and knowledge related to paired tumor/germline sequencing. Participants generally had a good objective understanding of germline genetics and cancer risk, with parents scoring higher than adolescents. Nearly all participants were motivated by a desire to help other patients and to treat their child/themselves. Most adolescents reported involvement in the decision to enroll in the study. Study findings suggest important similarities and differences between parent and adolescent views.


Assuntos
Comportamento do Adolescente , Neoplasias , Adolescente , Criança , Genômica , Humanos , Neoplasias/genética , Neoplasias/terapia , Pais , Inquéritos e Questionários
13.
J Alzheimers Dis ; 90(3): 1035-1043, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35404285

RESUMO

In this article we address how the recent, and anticipated upcoming, FDA approvals of novel anti-amyloid medications to treat individuals with mild Alzheimer's disease (AD) dementia could impact disclosure of biomarker results among asymptomatic research participants. Currently, research is typically the context where an asymptomatic individual may have the option to learn their amyloid biomarker status. Asymptomatic research participants who learn their amyloid status may have questions regarding the meaning of this result and the implications for accessing a potential intervention. After outlining our rationale, we provide examples of how current educational materials used in research convey messages regarding amyloid positivity and the availability of treatments, or lack thereof. We suggest language to improve messaging, as well as strengths of current materials, in addressing these issues for research participants. Although novel medications are currently only approved for use among symptomatic individuals, their availability may have implications for disclosure among asymptomatic research participants with evidence of amyloid deposition, who may be especially interested in information on these interventions for potential prevention, or future treatment, of mild cognitive impairment or dementia due to AD.


Assuntos
Doença de Alzheimer , Amiloidose , Disfunção Cognitiva , Demência , Humanos , Doença de Alzheimer/psicologia , Revelação , Disfunção Cognitiva/psicologia , Biomarcadores , Amiloide , Proteínas Amiloidogênicas
14.
NPJ Genom Med ; 7(1): 5, 2022 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-35058451

RESUMO

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape. Given that we are in the early stages of development of the wGT market, now is the time to identify the critical interests and concerns of employees and employers, so that governance can develop and evolve along with the wGT market, rather than behind it, and be based on data, rather than speculative hopes and fears.

15.
BMC Cancer ; 21(1): 1273, 2021 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-34823486

RESUMO

PURPOSE: Large-panel genomic tumor testing (GTT) is an emerging technology with great promise but uncertain clinical value. Previous research has documented variability in academic oncologists' perceptions and use of GTT, but little is known about community oncologists' perceptions of GTT and how perceptions relate to clinicians' intentions to use GTT. METHODS: Community oncology physicians (N = 58) participating in a statewide initiative aimed at improving access to large-panel GTT completed surveys assessing their confidence in using GTT, attitudes regarding the value of GTT, perceptions of barriers to GTT implementation, and future intentions to use GTTs. Descriptive and multivariable regression analyses were conducted to characterize these perceptions and to explore the relationships between them. RESULTS: There was substantial variability in clinicians' perceptions of GTT. Clinicians generally had moderate confidence in their ability to use GTT, but lower confidence in patients' ability to understand test results and access targeted treatment. Clinicians had positive attitudes regarding the value of GTT. Clinicians' future intentions to use GTT were associated with greater confidence in using GTT and greater perceived barriers to implementing GTT, but not with attitudes about the value of GTT. CONCLUSIONS: Community oncologists' perceptions of large-panel genomic tumor testing are variable, and their future intentions to use GTT are associated with both their confidence in and perceived barriers to its use, but not with their attitudes towards GTT. More research is needed to understand other factors that determine how oncologists perceive and use GTT in clinical practice.


Assuntos
Atitude do Pessoal de Saúde , Testes Genéticos/estatística & dados numéricos , Neoplasias/genética , Oncologistas/psicologia , Compreensão , Feminino , Previsões , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Hematologia/estatística & dados numéricos , Humanos , Intenção , Maine , Masculino , Análise de Regressão , Serviços de Saúde Rural , Autoimagem , Incerteza
16.
Alzheimers Dement (N Y) ; 7(1): e12213, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34692986

RESUMO

INTRODUCTION: This study describes practices for disclosing individual research results to participants in Alzheimer's disease research. METHODS: An online survey of clinical core leaders at National Institutes of Health-funded Alzheimer's Disease Research Centers in the United States (response rate: 30/31, 97%) examined return of results practices across nine different types of research results. RESULTS: Most centers had returned consensus research diagnoses (83%) and neuropsychological test results (73%), with fewer having shared amyloid positron emission tomography (43%), tau imaging (10%), or apolipoprotein E (APOE) genotype (7%) results. Centers reported having disclosed a mean of 3.1 types of results (standard deviation = 2.1; range 0-8). The most commonly cited reason for disclosure was to inform participants' medical decision-making (88%). Disclosure involved multiple professionals and modalities, with neurologists (87%) and in-person visits (85%) most commonplace. DISCUSSION: Centers varied widely as to whether and how they disclosed research results. Diagnostic and cognitive test results were more commonly returned than genetic or biomarker results.

17.
Artigo em Inglês | MEDLINE | ID: mdl-34632254

RESUMO

Large-panel genomic tumor testing (GTT) is an emerging technology that promises to make cancer treatment more precise. Because GTT is novel and complex, patients may have unrealistic expectations and limited knowledge of its benefits. These problems may limit the clinical value of GTT, but their prevalence and associated factors have not been explored. METHODS: Patients with cancer enrolled in a large initiative to disseminate GTT in community oncology practices completed surveys assessing their expectations, knowledge, and attitudes about GTT. The study sample (N = 1,139) consisted of patients with a range of cancer types (22% gynecologic, 14% lung, 10% colon, 10% breast, and 46% other malignancies) and cancer stages (4% stage I, 3% stage II, 15% stage III, and 74% stage IV). Mean age was 64 years (standard deviation = 11); 668 (59%) were women; 71% had no college degree; 57% came from households with less than $50,000 US dollars household income; and 73% lived in a rural area. RESULTS: Generally, patients had high expectations that they would benefit from GTT (M = 2.81 on 0-4 scale) and positive attitudes toward it (M = 2.98 on 0-4 scale). Patients also had relatively poor knowledge about GTT (48% correct answers on an objective test of GTT knowledge). Greater expectations for GTT were associated with lower knowledge (b = -0.46; P < .001), more positive attitudes (b = 0.40; P < .001), and lower education (b = -0.53; P < .001). CONCLUSION: This research suggests patients have high expectations that they will benefit from GTT, which is associated with low knowledge, positive attitudes, and low education. More research is needed to understand the concordance between expectations and actual clinical outcomes.


Assuntos
Oncologia/métodos , Neoplasias/genética , Pacientes/psicologia , Idoso , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Oncologia/estatística & dados numéricos , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Pacientes/estatística & dados numéricos , População Rural/estatística & dados numéricos , Inquéritos e Questionários
18.
NPJ Genom Med ; 6(1): 72, 2021 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-34429410

RESUMO

Many expect genome sequencing (GS) to become routine in patient care and preventive medicine, but uncertainties remain about its ability to motivate participants to improve health behaviors and the psychological impact of disclosing results. In a pilot trial with exploratory analyses, we randomized 100 apparently healthy, primary-care participants and 100 cardiology participants to receive a review of their family histories of disease, either alone or in addition to GS analyses. GS results included polygenic risk information for eight cardiometabolic conditions. Overall, no differences were observed between the percentage of participants in the GS and control arms, who reported changes to health behaviors such as diet and exercise at 6 months post disclosure (48% vs. 36%, respectively, p = 0.104). In the GS arm, however, the odds of reporting a behavior change increased by 52% per high-risk polygenic prediction (p = 0.032). Mean anxiety and depression scores for GS and control arms had confidence intervals within equivalence margins of ±1.5. Mediation analyses suggested an indirect impact of GS on health behaviors by causing positive psychological responses (p ≤ 0.001). Findings suggest that GS did not distress participants. Future research on GS in more diverse populations is needed to confirm that it does not raise risks for psychological harms and to confirm the ability of polygenic risk predictions to motivate preventive behaviors.

19.
J Am Geriatr Soc ; 69(11): 3203-3211, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34252201

RESUMO

BACKGROUND/OBJECTIVES: Disclosure of Alzheimer's disease (AD) risk information to cognitively unimpaired older adults may become more common if preclinical AD is shown to be identifiable and amenable to treatment. Little, however, is known about how families will react to this information. DESIGN AND SETTING: Semi-structured telephonic interviews. PARTICIPANTS: Seventy study partners (mean age = 68 [±11]; 50% female; 70% spouses/significant others; 18% children, siblings; 12% friends) of cognitively unimpaired adults who learned a personalized AD dementia risk estimate and an amyloid-ß PET scan result through their participation in preclinical AD research. MEASUREMENT: Interviewees were asked about their desire for information regarding their family member's AD dementia risk, baseline expectations of risk, understanding of amyloid-ß PET scan results, and the impact of AD dementia risk information on emotions, health behaviors, and future plans, as well as on perceptions of their family member's or friend's memory. RESULTS: Interviewees generally understood the AD dementia risk information (83%) and considered it valuable (75%). Risk information perceived as favorable elicited feelings of happiness and relief; unfavorable information elicited disappointment, as well as increased awareness of the participants' memory and monitoring for incipient changes in cognition. While noting that AD dementia risk information was not medically actionable at this time due to the lack of disease-modifying therapies, some interviewees described changes to their family members' and their own health behaviors and future plans. CONCLUSION: Guidelines for the disclosure of AD dementia risk estimates and biomarker results to cognitively unimpaired adults should account for the needs and interests of individuals and their family members, who may step into a pre-caregiver role.


Assuntos
Amiloide/metabolismo , Revelação , Família/psicologia , Voluntários Saudáveis/psicologia , Tomografia por Emissão de Pósitrons , Sintomas Prodrômicos , Idoso , Doença de Alzheimer/psicologia , Biomarcadores , Encéfalo/metabolismo , Cognição , Feminino , Humanos , Entrevistas como Assunto , Masculino , Fatores de Risco , Telefone
20.
Public Health Genomics ; 24(5-6): 291-303, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34058740

RESUMO

BACKGROUND: Genomic testing is increasingly employed in clinical, research, educational, and commercial contexts. Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative for individuals with diverse backgrounds, including those with clinical/life sciences training. METHODS: We developed the GKnowM Genomics Knowledge Scale to assess the knowledge needed to make an informed decision for genomic testing, appropriately apply genomic technologies and participate in civic decision-making. We administered the 30-item draft measure to a calibration cohort (n = 1,234) and subsequent participants to create a combined validation cohort (n = 2,405). We performed a multistage psychometric calibration and validation using classical test theory and item response theory (IRT) and conducted a post-hoc simulation study to evaluate the suitability of a computerized adaptive testing (CAT) implementation. RESULTS: Based on exploratory factor analysis, we removed 4 of the 30 draft items. The resulting 26-item GKnowM measure has a single dominant factor. The scale internal consistency is α = 0.85, and the IRT 3-PL model demonstrated good overall and item fit. Validity is demonstrated with significant correlation (r = 0.61) with an existing genomics knowledge measure and significantly higher scores for individuals with adequate health literacy and healthcare providers (HCPs), including HCPs who work with genomic testing. The item bank is well suited to CAT, achieving high accuracy (r = 0.97 with the full measure) while administering a mean of 13.5 items. CONCLUSION: GKnowM is an updated, broadly relevant, rigorously validated 26-item measure for assessing genomics knowledge that we anticipate will be useful for assessing population genomic literacy and evaluating the effectiveness of genomics educational interventions.


Assuntos
Letramento em Saúde , Análise Fatorial , Genômica , Humanos , Psicometria/métodos , Reprodutibilidade dos Testes , Inquéritos e Questionários
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