Dataset Information

GUIA: a digital platform to facilitate result disclosure in genetic counseling.

ABSTRACT:

Purpose

Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.

Methods

GUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative qualitative research involving parents (N = 22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N = 18) completed structured feedback interviews post-result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA's design to ensure technical, cultural, and literacy appropriateness.

Results

NYCKidSeq participants responded positively to the use of GUÍA to deliver their children's results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear.

Conclusion

GUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA's utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA's effectiveness in communicating results among diverse, multilingual populations.

SUBMITTER: Suckiel SA

PROVIDER: S-EPMC8105171 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

GUÍA: a digital platform to facilitate result disclosure in genetic counseling.

Suckiel Sabrina A SA Odgis Jaqueline A JA Gallagher Katie M KM Rodriguez Jessica E JE Watnick Dana D Bertier Gabrielle G Sebastin Monisha M Yelton Nicole N Maria Estefany E Lopez Jessenia J Ramos Michelle M Kelly Nicole N Teitelman Nehama N Beren Faygel F Kaszemacher Tom T Davis Kojo K Laguerre Irma I Richardson Lynne D LD Diaz George A GA Pearson Nathaniel M NM Ellis Stephen B SB Stolte Christian C Robinson Mimsie M Kovatch Patricia P Horowitz Carol R CR Gelb Bruce D BD Greally John M JM Bauman Laurie J LJ Zinberg Randi E RE Abul-Husn Noura S NS Wasserstein Melissa P MP Kenny Eimear E EE

Genetics in medicine : official journal of the American College of Medical Genetics 20210202 5

<h4>Purpose</h4>Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.<h4>Methods</h4>GUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web applicatio ...[more]

PMID: 33531665

Similar Datasets

Project description:The COVID-19 pandemic has affected all aspects of our lives. The full impact of the pandemic is still unfolding and will take years to fully understand. This longitudinal study followed a sample of 189 genetic counselors from June to November of 2020, starting with an online retrospective baseline survey of pre-COVID-19 functioning and continuing with a monthly online survey (average retention = 89.2%) to assess changes in self-reported stress, employment status, billing practices, self-efficacy, and their use of telehealth. Participants were recruited from specific states representing geographic diversity with publicly available databases of contact information as well as social media. The sample was largely reflective of the professional demographics reported in the 2020 Professional Status Survey (PSS). Comparisons were made between the PSS, baseline assessment of pre-COVID-19 status, June, and November data. Genetic counselor workload did not significantly change in terms of hours worked from baseline to November, though patients served per week dropped initially before returning to pre-COVID-19 levels. Genetic counselors were increasingly working remotely and supervising students less frequently in November compared to pre-COVID-19 baseline. Approximately 50% of the sample were unable to bill for services throughout the study period, with billing practices not changing during this time. Approximately 40% experienced a negative employment change in June, which dropped to ~10% in November. Personal and family stress levels were elevated during the study period, while financial stress increased from baseline to June it returned to pre-COVID-19 levels by November. Self-efficacy for common genetic counseling skills decreased from baseline to June but returned to baseline levels by November. The results suggest the workforce faced transitions but has rebounded in most areas studied. The pandemic highlighted pre-existing billing issues, and the current billing structures were not able to shift in the face of practice transitions. The long-term implications of the pandemic remain to be seen, but the results indicate returns toward baseline data in most areas with the exceptions of supervision, personal and family stress, and billing.

Project description:New possibilities of biomarker-based predictive technologies for Alzheimer's disease (AD) have become more reliable as well as more accessible. Standardized clinical recommendations and guidance for counseling and disclosure in this context are not yet well developed. Our scoping review identified publications from database searches in PubMed, PsycINFO, LIVIVO, and Web of Science. Inclusion criteria were: (1) information or counseling, (2) biomarkers and a type of cognitive impairment or AD, and (3) published between 2005 and 2024. We identified 63 articles and synthesized them along the categories of staged information provision: pre-test counseling, disclosure, and post-disclosure follow-up. Most publications referred to the context of disclosure (48), followed by pre-test counseling (33), and post-disclosure follow-up (31). Some publications referred to all stages of counseling (17). Our findings highlight the need to further develop and specify comprehensive and standardized guidelines for counseling, disclosure, and post-disclosure follow-up in the context of AD biomarker testing. HIGHLIGHTS: New possibilities of biomarker-based predictive technologies for Alzheimer's disease (AD) have become more reliable and also more accessible. However, clinical recommendations and guidance for counseling and disclosure in the context of AD biomarker testing are currently not well developed. We carried out a scoping review with the aim to generate an overview of the scientific literature and guidance available regarding counseling, biomarker test result and dementia risk disclosure, and clinical management prior to and in the course of a biomarker-based diagnosis in early stages of AD. We identified 63 relevant articles. Most publications referred to the context of disclosure (48), followed by pre-test counseling (33), and post-disclosure follow-up (31). Some publications referred to all stages of counseling (17). Our findings highlight the urgent need for national and international consensus guidelines for comprehensive and staged counseling and disclosure practices. While most publications identify relevant ethical challenges posed for counseling practices in the context of AD biomarker testing, they rarely present any practical recommendations for clinicians, on how and what to counsel on a concrete level.

Project description:BackgroundBiomarkers such as amyloid imaging are increasingly used for diagnosis in the early stages of Alzheimer's disease. Very few studies have examined this from the perspective of the patient. To date, there is only limited evidence about how patients experience and value disclosure in an early disease stage.MethodsSemistructured interviews were carried out with 38 patients with amnestic mild cognitive impairment as part of an investigator-driven diagnostic trial (EudraCT, 2013-004671-12; registered on 20 June 2014) in which participants could opt to know the binary outcome (positive/negative) result of their amyloid positron emission tomography (PET) scan. Verbatim transcripts of the interviews were evaluated using qualitative content analysis and NVivo 11 software.ResultsEight of 38 patients received a positive amyloid PET scan result, and the remaining 30 patients received a negative amyloid PET scan result. After disclosure of the result to the patients, we interviewed each patient twice: 2 weeks after disclosure and 6 months after disclosure. Patients had difficulties in repeating the exact words used during disclosure of their amyloid PET scan result by the neurologist; yet, they could recall the core message of the result in their own words. Some patients were confused by the terminology of an amyloid-positive/negative test result. At 6 months, two of eight patients with a positive amyloid PET scan result experienced emotional difficulties (sadness, feeling worried). Three of 30 patients with a negative amyloid PET scan result started to doubt whether they had received the correct result. Patients reported that they experienced advantages after the disclosure, such as information about their health status, the possibility of making practical arrangements, medication, enjoying life more, and a positive impact on relationships. They also reported disadvantages following disclosure, such as having emotional difficulties, feeling worried about when their symptoms might worsen, the risk of a more patronizing attitude by relatives, and the possibility of a wrong diagnosis.ConclusionsThis exploratory study shows that the majority of patients can accurately recall the information received during disclosure. The experienced advantages and disadvantages reported by our patients depended on the outcome of the result (positive or negative) and the interval of the conducted interview (2 weeks or 6 months after amyloid PET disclosure). Discrepancies were found between patients' expectations according to the interview prior to amyloid PET disclosure (Vanderschaeghe et al. [Neuroethics. 2017;10:281-97]) and their actual experiences after their amyloid PET disclosure.