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1.
Transl Behav Med ; 2019 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-31505002

RESUMO

How individuals perceive uncertainties in sequencing results may affect their clinical utility. The purpose of this study was to explore perceptions of uncertainties in carrier results and how they relate to psychological well-being and health behavior. Post-reproductive adults (N = 462) were randomized to receive carrier results from sequencing through either a web platform or a genetic counselor. On average, participants received two results. Group differences in affective, evaluative, and clinical uncertainties were assessed from baseline to 1 and 6 months; associations with test-specific distress and communication of results were assessed at 6 months. Reductions in affective uncertainty (∆x̅ = 0.78, 95% CI: 0.53, 1.02) and evaluative uncertainty (∆x̅ = 0.69, 95% CI: 0.51, 0.87) followed receipt of results regardless of randomization arm at 1 month. Participants in the web platform arm reported greater clinical uncertainty than those in the genetic counselor arm at 1 and 6 months; this was corroborated by the 1,230 questions asked of the genetic counselor and residual questions reported by those randomized to the web platform. Evaluative uncertainty was associated with a lower likelihood of communicating results to health care providers. Clinical uncertainty was associated with a lower likelihood of communicating results to children. Learning one's carrier results may reduce perceptions of uncertainties, though web-based return may lead to less reduction in clinical uncertainty in the short term. These findings warrant reinforcement of clinical implications to minimize residual questions and promote appropriate health behavior (communicating results to at-risk relatives in the case of carrier results), especially when testing alternative delivery models.

3.
J Genet Couns ; 28(2): 419-427, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30653790

RESUMO

Exome and genome sequencing (EGS) are increasingly the genetic testing modalities of choice among researchers owing to their ready availability, low cost, and large data output. Recruitment of larger, more diverse cohorts into long-term studies with extensive data collection is fundamental to the success of EGS research and to the widespread benefit of genomic medicine to various populations. Effective engagement will be critical to meeting this demand. The Diffusion of Innovation (DOI) model provides a framework for how new technologies are adopted in communities, including antecedents of an individual's decision to adopt the technology, how the technology's attributes influence its acceptability, the predictors of sustained use of that technology, and its diffusion through society. We apply the DOI model to frame participant engagement in EGS research and to guide the proposal of potential strategies that aim to overcome forecasted challenges. Finally, we suggest a variety of ways genetic counselors can apply their skills and training to the development and implementation of these strategies.

4.
Genet Med ; 21(8): 1735-1743, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30568309

RESUMO

PURPOSE: We examined the role of ethnic identity (which measures the degree to which individuals identify with their ethnic group) in beliefs about, and intentions to learn, genomic results. METHODS: A longitudinal cohort was recruited to implement genome sequencing among healthy participants self-identifying as African, African American, or Afro-Caribbean, 40-65 years old (n = 408). Before receiving genomic results, participants completed a survey assessing social and behavioral constructs related to health, genomics, and ethnic identity. RESULTS: Ethnic identity was positively correlated with perceived value of genomic results and expected benefits from genomic research participation. Among participants with stronger ethnic identity, cognitive beliefs (perceived value of results [b = 0.63, 95% confidence interval: 0.29, 0.98, p < 0.001] and expected benefits from genomic research participation [b = 0.32, 95% confidence interval: 0.12, 0.53, p = 0.002]) were associated with intentions to receive results. Among those with weaker ethnic identity, there was no such association. CONCLUSION: Individuals with stronger ethnic identity seem to attend more to cognitive beliefs such as the value of genomic results when deliberating receipt of results compared with those with weaker ethnic identity. Understanding ethnic identity variation and its influence on genome sequencing perceptions and intentions can inform future research opportunities using ethnic identity to explore specific practical, clinical questions.

5.
Genet Med ; 21(6): 1355-1362, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30382154

RESUMO

PURPOSE: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. METHODS: We purposively recruited 467 individuals self-identified as African, African American, or Afro-Caribbean to the ClinSeq® study and surveyed them about knowledge, motivations, expectations, and traits. Summary statistics were calculated and compared with data from the study's original cohort, which was primarily White and self-referred. RESULTS: Recruitment took five years and 83% of enrollees completed the survey. Participants had modest knowledge about benefits and limitations of sequencing (x̅s = 5.1, ranges: 0-10), and less than the original cohort (x̅ = 7.5 and 7.7, respectively). Common motivations to enroll were learning information relevant to personal health (49%) or family members' health (33%), and most had realistic expectations of sequencing. Like the original cohort, they had high levels of optimism, openness, and resilience. CONCLUSION: Early adopters may have relatively consistent personality traits irrespective of majority/minority status and recruitment methods, but high levels of genomics knowledge are not universal. Research should determine whether recruitment and consent procedures provide adequate education to promote informed choices and realistic expectations, which are vital to ethical research and increasing genomics research participation in underrepresented communities.

6.
Genet Med ; 21(5): 1100-1110, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30287922

RESUMO

PURPOSE: Clinical sequencing emerging in health care may result in secondary findings (SFs). METHODS: Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene-condition pair list; we assessed clinical and psychosocial actions. RESULTS: The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0-$678) and $421 (recommended, range: $141-$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene-condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care. CONCLUSION: Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.

7.
Genet Med ; 21(3): 748-752, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29997389

RESUMO

PURPOSE: Studies on returning variants of uncertain significance (VUS) results have predominantly included patients with a personal or family history of cancer and cancer-associated gene VUS. This study examined health behaviors among participants with cardiomyopathy-associated gene VUS, but without a personal history of cardiomyopathy. METHODS: Sixty-eight eligible participants without apparent cardiomyopathy but with VUS in cardiomyopathy-associated genes completed a survey of health behaviors, disclosure, distress, uncertainty, positive experiences, decisional conflict, and perceived value. The medical records of participants who reported cardiac testing because of their VUS were reviewed for testing indication(s). RESULTS: Two participants had cardiac testing due to their VUS alone. Four had cardiac testing because of their VUS and other clinical indications. Twelve changed health behaviors, including one participant who was subsequently diagnosed with cardiomyopathy. Distress, uncertainty, and decisional conflict were low (means = 1.2, 4.2, and 24.5 (scale ranges = 0-30, 0-45, and 15-75), respectively), and positive experiences and perceived value were moderate (means = 12.4 and 14.4 (scale ranges = 0-20 and 4-20), respectively). Greater perceived value was associated with greater likelihood to engage in health behaviors (P = 0.04). CONCLUSION: Positive VUS results can be returned to apparently unaffected individuals with modest use of healthcare resources, minimal behavioral changes, and favorable psychological reactions.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos/ética , Comportamentos Relacionados com a Saúde/ética , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Cardiomiopatias/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Variação Genética/genética , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pessoa de Meia-Idade , Estresse Psicológico , Inquéritos e Questionários , Incerteza
8.
Am J Hum Genet ; 103(3): 319-327, 2018 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-30193136

RESUMO

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.


Assuntos
Genoma Humano/genética , Adulto , Análise Custo-Benefício/métodos , Assistência à Saúde/métodos , Europa (Continente) , Exoma/genética , Genômica/métodos , Humanos , National Human Genome Research Institute (U.S.) , Fenótipo , Estados Unidos , Sequenciamento Completo do Genoma/métodos
9.
Mol Genet Genomic Med ; 6(6): 898-909, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30133189

RESUMO

BACKGROUND: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X-linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed. METHODS: Representatives from 11 projects in the clinical sequencing exploratory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results disclosure, and project-specific outcomes. We recorded quantitative responses and report descriptive statistics with the aim of describing the variability in approaches to disclosing carrier results in translational genomics research projects. RESULTS: The proportion of participants with carrier results was related to the number of genes included, ranging from 3% (three genes) to 92% (4,600 genes). Between one and seven results were disclosed to those participants who received any positive result. Most projects offered participants choices about whether to receive some or all of the carrier results. There were a range of approaches to communicate results, and many projects used separate approaches for disclosing positive and negative results. CONCLUSION: Future translational genomics research projects will need to make decisions regarding whether and how to disclose carrier results. The CSER consortium experience identifies approaches that balance potential participant interest while limiting impact on project resources.


Assuntos
Revelação , Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/métodos , Utilização de Instalações e Serviços , Triagem de Portadores Genéticos/estatística & dados numéricos , Aconselhamento Genético/estatística & dados numéricos , Humanos , Pesquisa Médica Translacional/métodos , Sequenciamento Completo do Genoma/métodos
11.
Circ Genom Precis Med ; 11(6): e001975, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29848613

RESUMO

BACKGROUND: Clinical genetic testing for heritable cardiovascular disease has become a widely used tool to aid in the management of patients and their families. A 5-category variant classification system is commonly used for genetic test results, but some laboratories further subclassify variants of uncertain significance. How and whether patients perceive differences among the variant categories or subclassifications of variants of uncertain significance is unknown. METHODS: We tested whether participants perceived differences in genetic variant subclassifications on outcomes including risk comprehension, risk perception, worry, perceived uncertainty, and intentions. Order-randomized hypothetical cardiovascular genetic results were given to 289 participants enrolled in a genome sequencing study. Three categories of variants were presented to participants: variants of uncertain significance, possibly pathogenic, and likely pathogenic. Responses to the first variant presented were analyzed in a between-groups analysis, and responses to all 3 variants were analyzed in a within-groups analysis. RESULTS: When presented with all 3 results, participants distinguished among the subclassifications on all outcomes (P<0.001). When given only a possibly pathogenic result, their risk perceptions were similar to those of variants of uncertain significance, but they were more worried and intended to behave as if they had received a likely pathogenic result. Individuals depended more on their affective responses such as worry when they received only one result (P<0.05). CONCLUSIONS: Participants are better able to distinguish pathogenicity subclassifications when presented with multiple categories. Individuals who receive a single uncertain result in a cardiovascular disease gene may benefit from interventions to decrease worry, calibrate risk perceptions, and motivate variant-appropriate behaviors.


Assuntos
Doenças Cardiovasculares/genética , Doenças Cardiovasculares/patologia , Testes Genéticos/métodos , Variação Genética , Genômica/métodos , Participação do Paciente , Doenças Cardiovasculares/classificação , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Análise de Sequência de DNA/métodos
12.
Health Psychol ; 37(6): 553-561, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29745680

RESUMO

OBJECTIVE: Genomic sequencing is becoming increasingly accessible, highlighting the need to understand the social and psychological factors that drive interest in receiving testing results. These decisions may depend on perceived descriptive norms (how most others behave) and injunctive norms (what is approved of by others). We predicted that descriptive norms would be directly associated with intentions to learn genomic sequencing results, whereas injunctive norms would be associated indirectly, via attitudes. These differential associations with intentions versus attitudes were hypothesized to be strongest when individuals held ambivalent attitudes toward obtaining results. METHOD: Participants enrolled in a genomic sequencing trial (n = 372) reported intentions to learn medically actionable, nonmedically actionable, and carrier sequencing results. Descriptive norms items referenced other study participants. Injunctive norms were analyzed separately for close friends and family members. Attitudes, attitudinal ambivalence, and sociodemographic covariates were also assessed. RESULTS: In structural equation models, both descriptive norms and friend injunctive norms were associated with intentions to receive all sequencing results (ps < .004). Attitudes consistently mediated all friend injunctive norms-intentions associations, but not the descriptive norms-intentions associations. Attitudinal ambivalence moderated the association between friend injunctive norms (p ≤ .001), but not descriptive norms (p = .16), and attitudes. Injunctive norms were significantly associated with attitudes when ambivalence was high, but were unrelated when ambivalence was low. Results replicated for family injunctive norms. CONCLUSIONS: Descriptive and injunctive norms play roles in genomic sequencing decisions. Considering mediators and moderators of these processes enhances ability to optimize use of normative information to support informed decision making. (PsycINFO Database Record


Assuntos
Atitude , Genômica/métodos , Aprendizagem/fisiologia , Idoso , Feminino , Humanos , Intenção , Masculino , Pessoa de Meia-Idade , Normas Sociais
13.
J Genet Couns ; 27(5): 1220-1227, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29497922

RESUMO

Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation. We aggregated data from seven sites across the National Institutes of Health's Clinical Sequencing Exploratory Research (CSER) consortium on each project's procedures for recruitment, and rates of and reasons for decline. Data were analyzed using descriptive statistics. The decline rate for enrollment at the seven CSER sites ranged from 12 to 64% (median 28%) and varied based on age and disease status. Projects differed in their protocols for approaching potential participants and obtaining informed consent. Reasons for declining GS research were reported for 1088 potential participants. Commonly cited reasons were similar to those reported for clinical single gene testing and non-GS genetic research. The most frequently cited reason for decline was study logistics (35%); thus, addressing logistical barriers to enrollment may positively impact GS study recruitment. Privacy and discrimination concerns were cited by 13% of decliners, highlighting the need for researchers and providers to focus educational efforts in this area. The potential psychological burden of pursuing and receiving results from GS and not wanting to receive secondary findings, a concern specific to GS, have been cited as concerns in the literature. A minority of potential participants cited psychological impact (8%) or not wanting to receive secondary findings (2%) as reasons for decline, suggesting that these concerns were not major barriers to participation in these GS studies. Further research is necessary to explore the impact, if any, of different participant groups or study protocols on rates of decline for GS studies. Future studies exploring GS implementation should consider using standardized collection methods to examine reasons for decline in larger populations and more diverse healthcare settings.


Assuntos
Testes Genéticos , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Feminino , Humanos , Masculino
14.
Am J Hum Genet ; 102(4): 540-546, 2018 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-29526281

RESUMO

In-person education and counseling for all people receiving genetic results is the predominant model of disclosure but is challenged by the growing volume of low-impact results generated by sequencing. Evidence suggests that web-based tools may be as effective as in-person counseling at educating individuals about their low-impact results. However, the effects of counseling have not been assessed. To evaluate its utility, carrier results were returned to 459 post-reproductive participants from the ClinSeq cohort within a randomized controlled trial. Participants received education and were randomized to receive counseling or not. Primary outcomes included risk worry, test-related positive experiences, attitudes, and decisional conflict. Secondary outcomes were satisfaction, preferences, and counseling value. There were no differences between participants who received counseling and those who did not in the primary outcomes. Participants who received counseling were more satisfied than those who did not (x¯ = 10.2 and 9.5, respectively, p < 0.002, range: 3-12), although overall satisfaction was high. Most participants (92%) randomized to counseling preferred it and valued it because it provided validation of their reactions and an opportunity for interpersonal interaction. Web-based tools address the challenge of returning low-impact results, and these data provide empiric evidence that counseling, although preferred and satisfying, is not critical to achieving desired outcomes.


Assuntos
Aconselhamento Genético , Educação em Saúde , Demografia , Feminino , Seguimentos , Heterozigoto , Humanos , Masculino , Inquéritos e Questionários
15.
Eur J Hum Genet ; 26(5): 735-739, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29476166

RESUMO

Given familial implications of genetic information, it is important to understand intentions to share carrier results with family members. To our knowledge, no studies among individuals undergoing exome sequencing have used dyadic data analysis to examine the effect of spousal perceptions and beliefs. Survey responses from 136 individuals (68 couples) undergoing exome sequencing in a research study were analyzed using dyadic analysis (the actor-partner interdependence model). Intention to share carrier results with family members was correlated between spouses (ICC = 0.43; 95% CI: 0.21-0.61; p = 0.004), as was worry about risk of a genetic condition in the family (ICC = 0.45; 95% CI: 0.24-0.62; p < 0.001). Perceived value of result and worry about risk of a genetic condition in the family were associated with one's own intentions to share carrier results. However, spousal status on these variables did not explain additional variance in an individual's intentions. Although we found no partner effects on intentions, spouses have comparable intentions to share carrier results, suggesting it may be important to account for non-independence in other research studies.


Assuntos
Exoma/genética , Triagem de Portadores Genéticos/métodos , Heterozigoto , Análise de Sequência de DNA/métodos , Adaptação Psicológica , Idoso , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cônjuges , Inquéritos e Questionários , Estados Unidos
16.
JAMA Intern Med ; 178(3): 338-346, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29356820

RESUMO

Importance: A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them. Objective: To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing. Design, Setting, and Participants: A randomized noninferiority trial conducted in a longitudinal sequencing cohort at the National Institutes of Health from February 5, 2014, to December 16, 2016, was used to compare the web-based platform with a genetic counselor. Among the 571 eligible participants, 1 to 7 heterozygous variants were identified in genes that cause a phenotype that is recessively inherited. Surveys were administered after cohort enrollment, immediately following trial education, and 1 month and 6 months later to primarily healthy postreproductive participants who expressed interest in learning their carrier results. Both intention-to-treat and per-protocol analyses were applied. Interventions: A web-based platform that integrated education on carrier results with personal test results was designed to directly parallel disclosure education by a genetic counselor. The sessions took a mean (SD) time of 21 (10.6), and 27 (9.3) minutes, respectively. Main Outcomes and Measures: The primary outcomes and noninferiority margins (δNI) were knowledge (0 to 8, δNI = -1), test-specific distress (0 to 30, δNI = +1), and decisional conflict (15 to 75, δNI = +6). Results: After 462 participants (80.9%) provided consent and were randomized, all but 3 participants (n = 459) completed surveys following education and counseling; 398 (86.1%) completed 1-month surveys and 392 (84.8%) completed 6-month surveys. Participants were predominantly well-educated, non-Hispanic white, married parents; mean (SD) age was 63 (63.1) years and 246 (53.6%) were men. The web platform was noninferior to the genetic counselor on outcomes assessed at 1 and 6 months: knowledge (mean group difference, -0.18; lower limit of 97.5% CI, -0.63; δNI = -1), test-specific distress (median group difference, 0; upper limit of 97.5% CI, 0; δNI = +1), and decisional conflict about choosing to learn results (mean group difference, 1.18; upper limit of 97.5% CI, 2.66; δNI = +6). There were no significant differences between the genetic counselors and web-based platform detected between modes of education delivery in disclosure rates to spouses (151 vs 159; relative risk [RR], 1.04; 95% CI, 0.64-1.69; P > .99), children (103 vs 117; RR, 1.07; 95% CI, 0.85-1.36; P = .59), or siblings (91 vs 78; RR, 1.17; 95% CI, 0.94-1.46; P = .18). Conclusions and Relevance: This trial demonstrates noninferiority of web-based return of carrier results among postreproductive, mostly healthy adults. Replication studies among younger and more diverse populations are needed to establish generalizability. Yet return of results via a web-based platform may be sufficient for subsets of test results, reserving genetic counselors for return of results with a greater health threat. Trial Registration: clinicaltrials.gov Identifier: NCT00410241.


Assuntos
Aconselhamento/métodos , Exoma , Aconselhamento Genético/métodos , Testes Genéticos/estatística & dados numéricos , Satisfação do Paciente/estatística & dados numéricos , Estudos de Coortes , Conselheiros/estatística & dados numéricos , Tomada de Decisões Assistida por Computador , Feminino , Heterozigoto , Humanos , Internet , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Análise de Sequência de DNA
17.
J Genet Couns ; 27(1): 252-262, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28879629

RESUMO

Caregivers of children with autism spectrum disorder (ASD) may find it difficult to feel a sense of control and to cope with the overall physical and emotional demands of caring for their child. While caregivers are able to successfully cope with a high level of stress, there are limits to their resources and abilities to cope over time. Genetic counselors working with affected families may be able to help parents more effectively manage stress related to the disorder. Few short-term interventions have been reported in genetic counseling yet implementation of evidence-based examples may be achievable. This study aimed to assess the feasibility of a coping effectiveness training (CET) intervention designed to enhance coping self-efficacy (CSE) among caregivers of children with ASD, with the eventual goal of translating this intervention into genetic counseling practice. A randomized treatment-control design was used to investigate the feasibility of an intervention using CET among caregivers of children with ASD. The primary outcome was the feasibility of the intervention; the secondary outcome was improvements in CSE in the intervention group as compared to the control group. Caregivers were recruited and randomized into the treatment (n=15) or control (n=13) groups. Of these, 22 completed the study (retention: 78.6%). The intervention was highly feasible; most caregivers found the CET helpful, practical, useful, and relatively easy to attend. The treatment group demonstrated significantly increased CSE from pre-intervention to post-intervention (p=0.02). Between group differences were not significant when comparing the pre-post changes. We provide preliminary evidence that CET may be beneficial to caregivers of children with ASD. The results of this feasibility study support development of a phase II study of this intervention in a larger cohort, aimed to be implemented into a genetic counseling setting.


Assuntos
Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Cuidadores/psicologia , Aconselhamento Genético/métodos , Pais/educação , Adaptação Psicológica , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pais/psicologia , Autoeficácia , Apoio Social
18.
Genet Med ; 20(3): 337-345, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28771245

RESUMO

PurposeAs genome science advances, people receiving personalized genetic information may receive reinterpretations of pathogenicity. Little is known about responses to adjusted results. We examined how reinterpretations might affect attitudes about genetic testing and intentions to share results with family.MethodsData were collected from high-socioeconomic-status participants (n = 58) in a genome sequencing study. Twenty-nine originally learned they were carriers of Duarte variant galactosemia, based on a variant that was reclassified as benign. Positive testers (n = 19) had a newly identified causative variant and remained carriers. Negative testers (n = 10) learned they were no longer carriers. Twenty-nine controls were carriers for a disease of comparable severity with no reclassification. Participants completed baseline, immediate, and 3-month follow-up surveys.ResultsApproximately 80% of participants demonstrated complete or partially accurate recall of their results and reported positive or neutral reactions to their result and about genetic information more generally. Positive testers reported lower intentions to share the change in their result with family. Controls reported the lowest intentions to learn future results. There were no significant group differences or changes over time in perceived ambiguity or negative emotions.ConclusionThe results suggest that high-socioeconomic-status participants understand reinterpretations conferring a neutral change or a change from carrier to noncarrier status. Participants' responses to changes in carrier results for a low-risk condition indicated minimal adverse effects.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Variação Genética , Participação do Paciente , Estudos de Casos e Controles , Confiabilidade dos Dados , Emoções , Seguimentos , Estudos de Associação Genética/métodos , Estudos de Associação Genética/normas , Aconselhamento Genético , Testes Genéticos/métodos , Testes Genéticos/normas , Humanos , Intenção , Percepção , Inquéritos e Questionários
19.
Genet Med ; 20(5): 503-512, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28933792

RESUMO

PurposeCaV3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes hereditary α-tryptasemia. Germ-line CACNA1H variants may contribute to the variable expressivity observed with this genetic trait.MethodsTryptase-encoding sequences at TPSAB1 and TPSB2, and TPSG1 and CACNA1H variants were genotyped in 46 families with hereditary α-tryptasemia syndrome. Electrophysiology was performed on tsA201 HEK cells transfected with wild-type or variant CACNA1H constructs. Effects on clinical phenotypes were interrogated in families with TPSAB1 duplications and in volunteers from the ClinSeq cohort.ResultsThree nonsynonymous variants in CACNA1H (rs3751664, rs58124832, and rs72552056) cosegregated with TPSAB1 duplications in 32/46 families and were confirmed to be in linkage disequilibrium (LD). In vitro, variant CaV3.2 had functional effects: reducing current densities, and altering inactivation and deactivation properties. No clinical differences were observed in association with the CACNA1H haplotype.ConclusionA previously unrecognized haplotype containing three functional CACNA1H variants is relatively common among Caucasians, and is frequently coinherited on the same allele as additional TPSAB1 copies. The variant CACNA1H haplotype, which in vitro imparts partial gain of function, does not result in detectable phenotypic differences in the heterozygous state.


Assuntos
Canais de Cálcio Tipo T/genética , Variações do Número de Cópias de DNA , Frequência do Gene , Haplótipos , Padrões de Herança , Triptases/genética , Canais de Cálcio Tipo T/metabolismo , Linhagem Celular , Duplicação Gênica , Estudos de Associação Genética , Loci Gênicos , Técnicas de Genotipagem , Humanos , Desequilíbrio de Ligação , Mutação , Fenótipo , Análise de Sequência de DNA , Triptases/metabolismo
20.
J Genet Couns ; 26(3): 532-540, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27618824

RESUMO

Supervision is a practice that is utilized by a variety of practitioners to hone their counseling skills. Genetic counselors have embraced the supervision process, and some seek out supervision in a group setting with peers. Researchers have described the structure and content of genetic counseling peer supervision groups, and provided evidence for the benefits of seeking peer supervision. This study aimed to describe the interpersonal aspects of one genetic counseling peer supervision group, including personality traits and group dynamics, and how those factors influenced our experiences within the group. We also describe how the process of evaluating these factors impacted us individually and collectively. There was consensus that the group was a safe and trusting one, which was united by similar goals and mutual respect. Members reported gaining insights about how their own personality functioned within the group milieu, and also how the group setting impacted them. Based on our experiences, we recommend that other peer supervision groups consider similar self-evaluations on a periodic basis, both to enhance group functioning and to allow for increased self-awareness and professional growth.


Assuntos
Conselheiros/psicologia , Aconselhamento Genético , Processos Grupais , Relações Interpessoais , Grupo Associado , Personalidade , Adulto , Feminino , Humanos
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