scholarly journals Development and Evaluation of ‘FH Family Share’: A Web-Based Tool to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia (Preprint)

10.2196/32568 ◽  
2021 ◽  
Author(s):  
Hana Bangash ◽  
Ahmed Makkawy ◽  
Justin H Gundelach ◽  
Alexandra A Miller ◽  
Kimberly A Jacobson ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Web Based ◽  
Cascade Testing

scholarly journals Development and Evaluation of ‘FH Family Share’— A Web-Based Tool to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia (Preprint)

2021 ◽  
Author(s):  
Hana Bangash ◽  
Ahmed Makkawy ◽  
Justin H Gundelach ◽  
Alexandra A Miller ◽  
Kimberly A Jacobson ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Family Members ◽  
Usability Testing ◽  
Web Tool ◽  
Web Based ◽  
Knowledge Resources ◽  
Cascade Testing ◽  
The Us ◽  
Cognitive Walkthrough ◽  
The Web

BACKGROUND Familial hypercholesterolemia (FH), a prevalent genetic disorder, remains significantly underdiagnosed in the United States (US). Cascade testing, whereby diagnosed FH probands can contact their family members and inform them of their risk for FH, has low uptake in the US. Digital tools are needed to facilitate communication between FH probands and their family members and promote sharing of FH-related risk information. OBJECTIVE In this report we describe the creation and evaluation of a web-based tool designed to enhance familial communication and promote cascade testing for FH. METHODS A hybrid type 1 implementation science framework and a user-centered design process were used to develop an interactive web-based tool — ‘FH Family Share,’ that enables FH probands to communicate information about their FH diagnosis with at risk relatives. Probands can also use FH Family Share to draw a family pedigree, learn more about FH through education modules and access curated knowledge resources. Research-Based Web Design and Usability Guidelines from the US Department of Health and Human Services’ (DHHS) were taken into account during the design and development of the tool. The initial prototype underwent a ‘cognitive walkthrough’ conducted by usability experts, which was followed by usability testing with key stakeholders including genetic counselors (GCs) and FH patients. Participants navigated the prototype and employed the ‘Think Aloud’ technique to share feedback that was used to refine features of FH Family Share. Usability testing was informed by the International Organization for Standardization (ISO) Quality Standards for Usability. RESULTS Six key themes emerged from the cognitive walkthrough including: Design, Format, Navigation, Terminology, Instructions and Learnability. Expert feedback from the cognitive walkthrough resulted in a rebuild of the web-tool to align it with institutional standards. Usability testing with GCs and FH patients provided key insights on user experience, satisfaction and interface design and highlighted specific modifications that were made to iteratively refine the features of FH Family Share and facilitate its clinical integration. GCs and FH patients suggested inclusion of the following features in the web-tool: 1) Templated ‘letter to family member’ email; 2) Education modules; and 3) Knowledge resources. Surveys revealed that 66.7% of GCs found information within the FH Family Share tool ‘very easy to find’ and 55.6% found information ‘very easy to understand,’ while 55.6% of patients found information ‘very easy to find’ within the website and 77.8% of patients found information ‘very easy to understand.’ All GCs and patients found FH Family Share to be a resource worth returning to. CONCLUSIONS We describe the creation of FH Family Share, a web-based tool to promote cascade testing for FH by facilitating communication between probands and their relatives. Once informed, at-risk family members have the option to seek testing and treatment for FH.

scholarly journals New Case Detection by Cascade Testing in Familial Hypercholesterolemia

2019 ◽  
Vol 12 (11) ◽  
Author(s):  
Christopher Lee ◽  
Miriannie Rivera-Valerio ◽  
Hana Bangash ◽  
Larry Prokop ◽  
Iftikhar J. Kullo
Keyword(s):  
Genetic Testing ◽  
Familial Hypercholesterolemia ◽  
Direct Contact ◽  
Index Case ◽  
The United States ◽  
Case Detection ◽  
Sample Collection ◽  
Cascade Testing ◽  
First Degree Relatives ◽  
The Mean

Background: The prevalence of familial hypercholesterolemia is 1 in 250, but <10% of patients are diagnosed. Cascade testing enables early detection of cases through systematic family tracing. Establishment of familial hypercholesterolemia cascade testing programs in the US could be informed by approaches used elsewhere. Methods: We conducted a systematic review of published studies in the English language of cascade testing for familial hypercholesterolemia, which reported the number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study, we calculated yield (proportion of relatives who test positive) and new cases per index case, to facilitate comparison. Results: We identified 10 studies from the literature that met inclusion criteria; the mean number of probands and relatives per study was 242 and 826, respectively. The average yield was 44.76% with a range of 30% to 60.5%, and the mean new cases per index case was 1.65 with a range of 0.22 to 8.0. New cases per index case tended to be greater in studies that used direct contact versus indirect contact (2.06 versus 0.86), tested beyond first-degree relatives versus only first-degree relatives (3.65 versus 0.80), used active sample collection versus collection at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus 0.42). Conclusions: New case detection in familial hypercholesterolemia cascade testing programs tended to be higher with direct contact of relatives, testing beyond first-degree relatives, in-home–based sample collection, and genetic testing. These findings should be helpful for establishing cascade testing programs in the United States.

The evaluation of cascade testing for familial hypercholesterolemia

2011 ◽  
Vol 158A (1) ◽  
pp. 78-84 ◽  
Author(s):  
Joan K. Morris ◽  
David S. Wald ◽  
Nicholas J. Wald
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cascade Testing

scholarly journals Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Gemme Campbell-Salome ◽  
Laney K. Jones ◽  
Max F. Masnick ◽  
Nephi A. Walton ◽  
Catherine D. Ahmed ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Family Communication ◽  
Design Thinking ◽  
Genetic Disorder ◽  
Pragmatic Trial ◽  
The United States ◽  
Atherosclerotic Cardiovascular Disease ◽  
Patient Centered ◽  
Cascade Testing ◽  
Increased Risk

Background: Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the United States. Although FH is common, fatal, and treatable, it is underdiagnosed and undertreated due to a lack of systematic methods to identify individuals with FH and limited uptake of cascade testing. Methods and Results: This mixed-method, multi-stage study will optimize, test, and implement innovative approaches for both FH identification and cascade testing in 3 aims. To improve identification of individuals with FH, in Aim 1, we will compare and refine automated phenotype-based and genomic approaches to identify individuals likely to have FH. To improve cascade testing uptake for at-risk individuals, in Aim 2, we will use a patient-centered design thinking process to optimize and develop novel, active family communication methods. Using a prospective, observational pragmatic trial, we will assess uptake and effectiveness of each family communication method on cascade testing. Guided by an implementation science framework, in Aim 3, we will develop a comprehensive guide to identify individuals with FH. Using the Conceptual Model for Implementation Research, we will evaluate implementation outcomes including feasibility, acceptability, and perceived sustainability as well as health outcomes related to the optimized methods and tools developed in Aims 1 and 2. Conclusions: Data generated from this study will address barriers and gaps in care related to underdiagnosis of FH by developing and optimizing tools to improve FH identification and cascade testing.

scholarly journals Value of Measuring Lipoprotein(a) During Cascade Testing for Familial Hypercholesterolemia

2019 ◽  
Vol 73 (9) ◽  
pp. 1029-1039 ◽  
Author(s):  
Katrina L. Ellis ◽  
Leopoldo Pérez de Isla ◽  
Rodrigo Alonso ◽  
Francisco Fuentes ◽  
Gerald F. Watts ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Lipoprotein A ◽  
Cascade Testing

The PBL-Evaluator: a web-based tool for assessment in tutorials

1998 ◽  
Vol 62 (9) ◽  
pp. 671-674
Author(s):  
JF Chaves ◽  
JA Chaves ◽  
MS Lantz
Keyword(s):  
Web Based

Using Popular Mobile Devices in Voice Therapy

2013 ◽  
Vol 23 (3) ◽  
pp. 82-87 ◽  
Author(s):  
Eva van Leer
Keyword(s):  
Exercise Behavior ◽  
Voice Therapy ◽  
Pure Oxygen ◽  
Mobile Platforms ◽  
Self Monitoring ◽  
Web Based ◽  
Motivational Messages ◽  
Related Information ◽  
Health Related ◽  
Tailored Approach

Mobile tools are increasingly available to help individuals monitor their progress toward health behavior goals. Commonly known commercial products for health and fitness self-monitoring include wearable devices such as the Fitbit© and Nike + Pedometer© that work independently or in conjunction with mobile platforms (e.g., smartphones, media players) as well as web-based interfaces. These tools track and graph exercise behavior, provide motivational messages, offer health-related information, and allow users to share their accomplishments via social media. Approximately 2 million software programs or “apps” have been designed for mobile platforms (Pure Oxygen Mobile, 2013), many of which are health-related. The development of mobile health devices and applications is advancing so quickly that the Food and Drug Administration issued a Guidance statement with the purpose of defining mobile medical applications and describing a tailored approach to their regulation.

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