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Genomic Medicine for Cardiovascular Disease
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Genomic Medicine for Cardiovascular Disease

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: closed (15 May 2021) | Viewed by 4857

Special Issue Editor

Dr. Iftikhar J. Kullo

E-Mail Website
Guest Editor
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA
Interests: familial hypercholesterolemia; atherosclerosis; cascade testing; electronic health record; coronary heart disease; decision support; electronic phenotyping algorithms

Special Issue Information

Dear Colleagues,

This Special Issue of the Journal of Personalized Medicine titled “Genomic Medicine for Cardiovascular Disease” aims to highlight the state-of-the-art for genomic medicine in clinical cardiovascular practice, highlighting innovative and novel approaches. Papers may address use of electronic health records for genomic discovery and implementation, digital tools for genomic medicine including clinical decision support, genomic medicine in low-resource-constrained settings, use of whole genome/exome sequencing such as in diagnostic odysseys, variant interpretation and functional assays, cascade testing, polygenic risk scores for cardiovascular disease and their integration into clinical practice, population screening, and team-based genomic medicine programs. Communications, reviews, and original articles are welcome.

Dr. Iftikhar J. Kullo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Cardiovascular disease 
  • Genome sequencing 
  • Electronic health record 
  • Coronary heart disease 
  • Hypercholesterolemia 
  • Polygenic risk scores

Published Papers (1 paper)

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Research

17 pages, 1155 KiB  
Article
Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study
by Laney K. Jones, Nicole Walters, Andrew Brangan, Catherine D. Ahmed, Michael Gatusky, Gemme Campbell-Salome, Ilene G. Ladd, Amanda Sheldon, Samuel S. Gidding, Mary P. McGowan, Alanna K. Rahm and Amy C. Sturm
J. Pers. Med. 2021, 11(6), 587; https://doi.org/10.3390/jpm11060587 - 21 Jun 2021
Cited by 12 | Viewed by 4362
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Genomic Medicine for Cardiovascular Disease)
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