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Human Genetics: Diseases, Community, and Counseling
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Human Genetics: Diseases, Community, and Counseling

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".

Deadline for manuscript submissions: 20 June 2024 | Viewed by 3765

Special Issue Editors

Prof. Dr. Joerg Schmidtke

E-Mail Website
Guest Editor
Hannover Medical School, Institute of Human Genetics, Carl-Neuberg-Strasse 1, D-30623 Hannover, Germany
Interests: community genetics; genetic counselling; genetic testing; inherited diseases
Prof. Dr. Irmgard Nippert

E-Mail Website
Guest Editor
Institute of Human Genetics, Westfälische Wilhelms-Universität Münster, Vesaliusweg 12-14, 48149 Münster, Germany
Interests: community genetics; genetic counseling; genetic testing; genetic services implementation and provision
Prof. Dr. Martina C. Cornel

E-Mail Website
Guest Editor
1. Department of Human Genetics, Amsterdam UMC, 1100DD Amsterdam, The Netherlands
2. Amsterdam Public Health Research Institute, Amsterdam UMC, 1100DD Amsterdam, The Netherlands
Interests: community genetics; population screening; responsible implementation

Special Issue Information

Dear Colleagues, 

Background:

Since the completion of the Human Genome Project in 2003, both the amount and the availability of genetic and genomic data have grown exponentially. This is a continuing process driven by technological advances and innovations. Translating high volumes of genomic and genetic data into actionable health and health care information may be influenced by specific challenges, including uncertainties and ambiguities in relation to the data generated, the size of the target population, conflicting health purposes, and other considerations. These challenges may impact the provision of services, and they may prompt questions regarding the  development of new service delivery models and new frameworks for genetic counselling.

Importance:

This Genes Special issue is specifically designed to strengthen the understanding of the multifaceted aspects and challenges that characterize translation processes of genetic and genomic data into health services.

Key elements to be addressed:

  • Genetic services provisions: genetic testing, clinical genetics, genetic counselling, genetic screening, health policies, and objectives in different countries
  • Integrating “genomic medicine” within different health care systems: policy development, multidisciplinary approaches, and collaboration
  • (Rare) genetic disease patient registries, international collaboration, decision making criteria related to resource allocation, infrastructure, and funding challenges for the treatment of rare diseases, which are becoming amenable for application in treatment
  • Biobanking
  • The role of patients, patient empowerment, and patient organisations
  • Genetic epidemiology
  • Ethical, legal, and social issues

Specific issues (examples):

  • Integration of genetic services in different national health care systems, multidisciplinary approaches and collaboration
  • Genetic professionals’ roles
  • Service delivery models for genetic counselling, online support tools, and online genetic counseling
  • Genetic services in LMI countries
  • Direct-to-consumer genetic testing
  • Rare disease centers

Goals:

It is imperative to present multidisciplinary perspectives on current processes, challenges, and opportunities related to the growing availability and applicability of human genetics and genomics information.

Prof. Dr. Joerg Schmidtke
Prof. Dr. Irmgard Nippert
Prof. Dr. Martina C. Cornel
Guest Editors

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. Genes 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

  • genetic counseling
  • genetic testing
  • genetic screening
  • rare diseases
  • biobanking
  • health policies
  • patient registries
  • patient organizations

Published Papers (3 papers)

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Research

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18 pages, 1238 KiB  
Article
Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers’ Websites
by Danny Bruins, Suzanne M. Onstwedder, Martina C. Cornel, Margreet G. E. M. Ausems, Marc H. W. van Mil and Tessel Rigter
Genes 2024, 15(4), 517; https://doi.org/10.3390/genes15040517 - 20 Apr 2024
Viewed by 489
Abstract
Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously [...] Read more.
Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously been studied. Methods and Goals: The present study aimed to assess the completeness, balance, readability, and findability of informational content on a selection of websites from several health-related DTC-GT sellers accessible to Dutch consumers. An in-depth content analysis was performed based on a recently published checklist outlining key items for policy guidance regarding DTC-GT services. Results: The information provided by sellers did not equally cover all aspects relevant to health-related DTC-GT service provision. The provided information was slightly unbalanced, with benefits of health-related DTC-GT usage being overemphasized compared to its risks and limitations. The readability of the provided information was low, on average requiring college education for proper understanding. A findability analysis showed that information concerning all themes is overall relatively evenly distributed across analyzed sellers’ websites. Conclusions: Information provision by assessed health-related DTC-GT sellers is suboptimal regarding completeness, balance, and readability. To better empower potential consumers to make an informed decision regarding health-related DTC-GT usage, we advocate industry-wide enhancement of information provision. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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15 pages, 941 KiB  
Article
Direct-to-Consumer Genetic Tests and Canadian Genetic Counselors: A Pilot Exploration of Professional Roles in Response to Novel Biotechnologies
by Cassandra E. Haley and Ma’n H. Zawati
Genes 2024, 15(2), 156; https://doi.org/10.3390/genes15020156 - 25 Jan 2024
Viewed by 944
Abstract
The role of genetic counselors is evolving in response to health-related direct-to-consumer genetic tests (DTC-GT). While there is consensus in the literature that pre- and post-DTC-GT genetic counseling would benefit consumers, genetic counselors have reservations about DTC-GTs, and there is a paucity of [...] Read more.
The role of genetic counselors is evolving in response to health-related direct-to-consumer genetic tests (DTC-GT). While there is consensus in the literature that pre- and post-DTC-GT genetic counseling would benefit consumers, genetic counselors have reservations about DTC-GTs, and there is a paucity of research on providing DTC-GT counseling. This pilot quantitative survey is the first study to examine Canadian genetic counselors’ views on DTC-GTs and how this disruptive biotechnology affects their role, and consumer informed consent and privacy. Canadian genetic counselors are cognizant of the harm to informed consent and privacy associated with DTC-GT, but are hesitant to engage directly, wary of misusing clinical time and resources. However, counselors are open to producing educational materials on DTC-GTs and collaborating with other stakeholders and the DTC-GT industry to support consumers. In this study, practical considerations for DTC-GT counseling sessions are discussed, including the unique needs of DTC-GT patients and the challenges posed by DTC-GTs to the genetic counseling duty to inform. This research benefits genetic counselors and physicians by examining how best to utilize genetic counselors’ skills in the DTC-GT context, to minimize burdens on the healthcare system and support DTC-GT consumers. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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Review

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11 pages, 246 KiB  
Review
Population-Based Biobanking
by Wolfgang Lieb, Eike A. Strathmann, Christian Röder, Gunnar Jacobs, Karoline I. Gaede, Gesine Richter, Thomas Illig and Michael Krawczak
Genes 2024, 15(1), 66; https://doi.org/10.3390/genes15010066 - 03 Jan 2024
Viewed by 1538
Abstract
Population-based biobanking is an essential element of medical research that has grown substantially over the last two decades, and many countries are currently pursuing large national biobanking initiatives. The rise of individual biobanks is paralleled by various networking activities in the field at [...] Read more.
Population-based biobanking is an essential element of medical research that has grown substantially over the last two decades, and many countries are currently pursuing large national biobanking initiatives. The rise of individual biobanks is paralleled by various networking activities in the field at both the national and international level, such as BBMRI-ERIC in the EU. A significant contribution to population-based biobanking comes from large cohort studies and national repositories, including the United Kingdom Biobank (UKBB), the CONSTANCES project in France, the German National Cohort (NAKO), LifeLines in the Netherlands, FinnGen in Finland, and the All of Us project in the U.S. At the same time, hospital-based biobanking has also gained importance in medical research. We describe some of the scientific questions that can be addressed particularly well by the use of population-based biobanks, including the discovery and calibration of biomarkers and the identification of molecular correlates of health parameters and disease states. Despite the tremendous progress made so far, some major challenges to population-based biobanking still remain, including the need to develop strategies for the long-term sustainability of biobanks, the handling of incidental findings, and the linkage of sample-related and sample-derived data to other relevant resources. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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