Refine Search

New Search

Results: 24

(searched for: doi:10.3389/fcvm.2016.00011)
Save to Scifeed
Page of 1
Articles per Page
by
Show export options
  Select all
Duong Khanh Toan, Mohammed Farooq Kunde, Seshadri Balaji,
Published: 25 September 2021
Indian Pediatrics, Volume 58, pp 892-893; https://doi.org/10.1007/s13312-021-2315-2

Published: 21 June 2021
by MDPI
Journal of Personalized Medicine, Volume 11; https://doi.org/10.3390/jpm11060587

Abstract:
Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) and (2) family communication methods including chatbots and direct contact to communicate information about inherited risk for FH. Focus groups were conducted with 22 individuals with FH (2 groups) and 20 clinicians (3 groups). These were recorded, transcribed, and analyzed using deductive (coded to implementation outcomes) and inductive (themes based on focus group discussions) methods. All stakeholders described these initiatives as: (1) acceptable and appropriate to identify individuals with FH and communicate risk with at-risk relatives; and (2) feasible to implement in current practice. Stakeholders cited current initiatives, outside of FH (e.g., pneumonia protocols, colon cancer and breast cancer screenings), that gave them confidence for successful implementation. Stakeholders described perceived obstacles, such as nonfamiliarity with FH, that could hinder implementation and potential solutions to improve systematic uptake of these initiatives. Automated health data screening, chatbots, and direct contact approaches may be useful for patients and clinicians to improve FH diagnosis and cascade screening.
Jessica Mozersky, Michelle N. Meyer, Alanna Kulchak Rahm, Sean M. O'Dell, Adam Buchanan
Published: 8 March 2021
Ethics & Human Research, Volume 43, pp 43-48; https://doi.org/10.1002/eahr.500086

Circulation: Genomic and Precision Medicine, Volume 14; https://doi.org/10.1161/circgen.120.003120

Abstract:
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.
Lindsey McAlarnen, Kristen Stearns,
The Application of Clinical Genetics, pp 1-9; https://doi.org/10.2147/tacg.s245021

Abstract:
Completion of genetic testing is increasingly important for the complex care of patients with suspected hereditary breast and ovarian cancers (HBOC) and their at-risk family members. Identification of individuals with pathogenic variants has implications for targeted treatment recommendations, risk reduction strategies, increased surveillance recommendations, as well as the genetic testing of family members, known as cascade testing or screening. Due to advances in technology and decreasing costs, what was once single-gene genetic testing has evolved into large-scale multi-gene panel genomic testing. As germline genomic testing for HBOC becomes more and more available, it is important to identify the challenges that are associated with its use. In this manuscript, we review the current issues faced by germline genomic testing for HBOC which include effectively managing the marked increases in genetic referrals, interpreting the vast amount of information yielded by newer testing methods such as next generation sequencing (NGS), recognizing the need for better cascade screening strategies, potential exacerbation of health disparities and improving support for patients navigating the emotional impact related to positive, negative and indeterminate testing results.
Ye Zhu, Paul Y. Takahashi, Naveen L. Pereira, Eric T. Matey,
Reference Module in Biomedical Sciences; https://doi.org/10.1016/b978-0-12-820472-6.00215-2

The publisher has not yet granted permission to display this abstract.
Gerald F. Watts, , Luis Masana, Alberto Zambon, Angela Pirillo, Lale Tokgözoğlu
Published: 1 December 2020
Atherosclerosis Supplements, Volume 42; https://doi.org/10.1016/j.atherosclerosissup.2021.01.006

Abstract:
The widespread use of statins has largely improved the treatment of hypercholesterolemia, but many patients still fail to achieve the LDL-C targets recommended by guidelines. Furthermore, some patients continue to present a very high cardiovascular (CV) risk or even an extreme risk despite being well treated, mainly due to the presence of co-morbidities such as diabetes or peripheral artery disease, which significantly increase their global CV risk. For these very high CV risk patients, the most recent European guidelines have reviewed the LDL-C goals and recommend an LDL-C reduction of at least 50% and a goal of <55 mg/dL or even <40 mg/dL. Recent clinical trials have shown that patient stratification based on the presence or absence of atherothrombotic risk factors may represent a valuable tool to identify patients at extremely high CV risk who may benefit more from an aggressive LDL-C-lowering approach. In these patients it may be appropriate to aim for the lowest LDL-C level, independently of recommended goals, with all the available pharmacological approaches.
, Maxiem O. Van Teijlingen, Wilma Van Der Roest, Irene M. Van Langen, , ,
Circulation: Genomic and Precision Medicine, Volume 13, pp 524-530; https://doi.org/10.1161/circgen.119.002803

Abstract:
Background: Inherited cardiac conditions present with a wide range of symptoms and may even result in sudden cardiac death. Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and treatment. In 2 previous cohort studies of 115 probands with a pathogenic variant, family uptake of genetic counseling was assessed in the first year(s) after test result disclosure to the proband. This study assesses uptake in these cohorts in the 14 to 23 years following disclosure. Methods: Uptake was determined retrospectively using patient records. First-degree relatives, and second-degree relatives of a deceased first-degree relative suspected of having an inherited cardiac condition, were considered eligible. Results: Of 717 eligible relatives (598 first-degree and 119 second-degree relatives), 60% attended genetic counseling. Most of them (68.6%) attended genetic counseling in the first year. A total of 98.4% of counseled relatives pursued predictive DNA testing. A total of 49.2% was identified as carrier. Median time between disclosure to the proband and counseling of relatives was 6 months (range: 0–187 months). Attending genetic counseling was observed more frequently in first-degree relatives, female relatives, primary arrhythmia syndromes, relatives with manifest inherited cardiac condition, relatives without children and families with sudden cardiac death in first-degree relatives Conclusions: During median follow-up of 16 years, 60.0% of relatives attended genetic counseling, with 41.0% in the first year. Our results may suggest that some relatives are not or inadequately informed or that barriers against genetic counseling are present. Further research is needed into interventions facilitating family communication, increasing awareness among families and healthcare professionals, and lowering thresholds for genetic counseling.
Published: 25 August 2020
The Pharmacogenomics Journal, Volume 21, pp 1-7; https://doi.org/10.1038/s41397-020-00182-9

Abstract:
The implementation of pharmacogenomics (PGx) has come a long way since the dawn of utilizing pharmacogenomic data in clinical patient care. However, the potential benefits of sharing PGx results have yet to be explored. In this paper, we explore the willingness of patients to share PGx results, as well as the inclusion of family medication history in identifying potential family members for pharmacogenomics cascade testing (PhaCT). The genetic similarities in families allow for identifying potential gene variants prior to official preemptive testing. Once a candidate patient is determined, PhaCT can be initiated. PhaCT recognizes that further cascade testing throughout a family can serve to improve precision medicine. In order to make PhaCT feasible, we propose a novel shareable HIPAA-compliant informatics platform that will enable patients to manage not only their own test results and medications but also those of their family members. The informatics platform will be an external genomics system with capabilities to integrate with patients’ electronic health records. Patients will be given the tools to provide information to and work with clinicians in identifying family members for PhaCT through this platform. Offering patients the tools to share PGx results with their family members for preemptive testing could be the key to empowering patients. Clinicians can utilize PhaCT to potentially improve medication adherence, which may consequently help to distribute the burden of health management between patients, family members, providers, and payers.
, Emily Brown, Brittney Murray, Iris Kindt, Erin Van Enkevort, Toni I. Pollin, Amy C. Sturm
Published: 29 March 2020
Journal of Genetic Counseling, Volume 29, pp 1142-1150; https://doi.org/10.1002/jgc4.1266

The publisher has not yet granted permission to display this abstract.
Natalie E. Griffin, Tommy R. Buchanan, Stephanie H. Smith, Andrea A. Leon, Melissa F. Meyer, Jingxia Liu, Rachel G. Tabak, Katherine C. Fuh, Premal H. Thaker, Matthew A. Powell, et al.
Published: 25 November 2019
Gynecologic Oncology, Volume 156, pp 140-146; https://doi.org/10.1016/j.ygyno.2019.11.005

The publisher has not yet granted permission to display this abstract.
, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, et al.
Molecular Genetics & Genomic Medicine, Volume 7; https://doi.org/10.1002/mgg3.940

Abstract:
Background Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at‐risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Consensus guidelines recommend that first‐degree relatives (FDRs) of a person with HCM undergo serial cardiovascular evaluations. Methods We determined the uptake of family screening in patients with HCM and developed an online video intervention to facilitate family communication and screening. Family screening and genetic testing data were collected through a prospective quality improvement initiative, a standardized clinical assessment and management plan (SCAMP), utilized in an established cardiovascular genetics clinic. Patients were prescribed an online video if screening of their FDRs was incomplete and a pilot study on video utilization and family communication was conducted. Results Two‐hundred and sixteen probands with HCM were enrolled in SCAMP Phase I and 190 were enrolled in SCAMP Phase II. In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients participated in a pilot study on video utilization and family communication. Nine participants reported watching the video and six participants reported sharing the video with relatives; however only one participant reported sharing the video with relatives who were not yet aware of the diagnosis of HCM in the family. Conclusion Despite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives.
Published: 1 July 2019
by MDPI
Journal of Personalized Medicine, Volume 9; https://doi.org/10.3390/jpm9030032

Abstract:
Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use. Reasons for underutilization are not well understood. We conducted a literature review in the PubMed/MEDLINE database and eight peer-reviewed journals. After filtering for and reviewing 2340 articles against our inclusion criteria, we included nine commentaries or expert opinions and eight empirical studies reported between January 2014 and March 2019 in our review. After applying the Consolidated Framework for Implementation Research (CFIR), we identified a total of 26 potential barriers and 15 potential facilitators (estimated barrier to facilitator ratio of 1.73). We further estimated ratios of potential barriers to facilitators for each CFIR domain (Characteristics of Intervention, Outer Setting, Inner Setting, Characteristics of Individuals, and Process). Findings derived from our systematic approach to the literature and calculations of estimated baseline ratios of barriers and facilitators can guide future research to understand FH genetic testing implementation in diverse clinical settings. Our systematic approach to the CFIR could also be used as a model to understand or compare barriers and facilitators to other evidence-based genetic testing processes in health care settings in the US and abroad.
Lieke M. Van Den Heuvel, Mette J. Huisinga, Yvonne M. Hoedemaekers, Annette F. Baas, Mirjam Plantinga, Lidewij Henneman, J. Peter Van Tintelen, Ellen M. A. Smets,
European Journal of Human Genetics, Volume 27, pp 1341-1350; https://doi.org/10.1038/s41431-019-0410-9

The publisher has not yet granted permission to display this abstract.
Published: 14 January 2019
Preventive Medicine Reports, Volume 13, pp 306-313; https://doi.org/10.1016/j.pmedr.2018.12.011

Abstract:
We investigated electronic health record (EHR) access as an indicator of cardiovascular health promotion by patients in their social networks, by identifying individuals who viewed their coronary heart disease (CHD) risk information in the EHR and shared this information in their social networks among various spheres of influence. In a secondary analysis of the Myocardial Infarction Genes trial, Olmsted County MN residents (2013–2015; n = 203; whites, ages 45–65 years) at intermediate CHD risk were randomized to receive their conventional risk score (CRS; based on traditional risk factors) alone or also their genetic risk score (GRS; based on 28 genomic variants). We assessed self-reported and objectively quantified EHR access via a patient portal at three and six months after risk disclosure, and determined whether this differed by GRS disclosure. Data were analyzed using logistic regression and adjusted for sociodemographic characteristics, family history, and baseline CRS/GRS. Self-reported EHR access to view CHD risk information was associated with a high frequency of objectively quantified EHR access (71(10) versus 37(5) logins; P = 0.0025) and a high likelihood of encouraging others to be screened for their CHD risk (OR 2.936, CI 1.443–5.973, P = 0.0030), compared to the absence of self-reported EHR access to view CHD risk information. We thereby used EHR access trends to identify individuals who may function as disseminators of CHD risk information in social networks, compared to individuals on the periphery of their social networks who did not exhibit this behavior. Partnering with such individuals could amplify CHD health promotion.
Michael F. Murray, James P. Evans, Misha Angrist, Wendy R. Uhlmann, , Stephanie M. Fullerton, Theodore G. Ganiats, Jill Hagenkord, Sara Imhof, Sun Hee Rim, et al.
Published: 3 December 2018
John Zimmerman, Daniel Duprez, Patricia McCarthy Veach,
Published: 11 September 2018
Journal of Community Genetics, Volume 10, pp 229-236; https://doi.org/10.1007/s12687-018-0383-3

Abstract:
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA. Primary care providers are well-positioned to identify FH cases; however, universal FH screening is not routinely implemented in practice. The aim of the present study was to identify perceived barriers to FH screening among primary care physicians in Minnesota. A questionnaire assessed FH screening practices, knowledge, and perceived barriers to FH screening. The questionnaire, sent electronically to internal and family medicine physicians in Minnesota (N = 1932) yielded a conservative estimated response rate of 9% (N = 173). Although 92% of participants reported themselves responsible for identifying individuals with FH, 30% did not routinely perform screening in practice. Only 50% of participants were able to correctly identify the risk of FH to first-degree relatives of individuals with FH. Challenges incorporating lipid and family history data was the most frequently endorsed barrier to FH screening (34%). A majority of participants endorsed a clinical decision support system that flags individuals at high risk for FH (62%) and an algorithm with cholesterol levels and lipid disorders (56%) as means of facilitating FH screening. Although the generalizability of the findings is unknown, the results underscore the need for increased provider education regarding FH and suggest an FH screening strategy incorporating a clinical decision support system, screening algorithm, and support from other healthcare providers.
, Divya Gupta, Stephanie B. Wechsler
Current Genetic Medicine Reports, Volume 6, pp 28-42; https://doi.org/10.1007/s40142-018-0135-z

The publisher has not yet granted permission to display this abstract.
Julie Bellchambers, Emma Neves, Alison Pottle
British Journal of Cardiac Nursing, Volume 12, pp 387-396; https://doi.org/10.12968/bjca.2017.12.8.387

Abstract:
Inherited cardiac conditions are a variety of genetic conditions affecting the heart and vasculature, which can result in sudden cardiac death. Identification of patients with these conditions and subsequent cascade testing of family members is vital if the impact from these conditions is to be reduced. This article focuses on two such conditions which are among the most common: hypertrophic cardiomyopathy and familial hypercholesterolaemia. The case studies illustrated detail the identification of the conditions, as well as the individual management of the two patients. The importance of cascade testing of relatives will be discussed in both cases together, with the need for dedicated clinics for managing patients with inherited cardiac conditions.
Megan Campbell, Jessa Humanki,
Published: 26 November 2016
Journal of Community Genetics, Volume 8, pp 35-44; https://doi.org/10.1007/s12687-016-0285-1

The publisher has not yet granted permission to display this abstract.
Page of 1
Articles per Page
by
Show export options
  Select all
Back to Top Top