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Genes
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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: closed (20 June 2024) | Viewed by 18188

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

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Published Papers (10 papers)

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Research

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25 pages, 2311 KiB  
Article
A Capacity Audit of Medical Geneticists and Genetic Counsellors in South Africa, 2024: A National Crisis
by Marianne C. M. Gomes, Byron J. Gomes, Arnold L. Christianson, Claude Bailly, Neil McKerrow and Helen L. Malherbe
Genes 2024, 15(9), 1173; https://doi.org/10.3390/genes15091173 - 6 Sep 2024
Viewed by 915
Abstract
Community genetic services were introduced in South Africa almost seven decades ago, with medical geneticists and genetic counsellors being formally recognized for the past 30 years. Initial training platforms were established at academic centres countrywide, and posts for relevant healthcare professionals, including medical [...] Read more.
Community genetic services were introduced in South Africa almost seven decades ago, with medical geneticists and genetic counsellors being formally recognized for the past 30 years. Initial training platforms were established at academic centres countrywide, and posts for relevant healthcare professionals, including medical geneticists and genetic counsellors were created in the public sector. Despite these early advances, the number of these specialists required to address the rising burden of congenital disorders in the country remains far below required targets established by the National Department of Health. The aim of this study was to analyse the retrospective, current and projected number of medical geneticists and genetic counsellors in South Africa. The results indicate the number of practicing medical geneticists (n = 13) and genetic counsellors (n = 28) are currently at 10% and 5% of capacity targets, respectively. There is unequal distribution of these specialists between the public and private healthcare sectors, and geographical maldistribution. An alarming trend of emigration is particularly prevalent among newly qualified genetic counsellors. With the proportion of congenital disorders expected to continue to rise in coming years, together with the increasing proportion of ageing South Africans, it is imperative that health workforce planning addresses the ever-widening gap between the supply, demand and unmet need for these crucial specialists in South Africa. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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20 pages, 332 KiB  
Article
The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience
by Ysbrand Poortman, Martina Ens-Dokkum and Irmgard Nippert
Genes 2024, 15(9), 1162; https://doi.org/10.3390/genes15091162 - 3 Sep 2024
Viewed by 980
Abstract
In 2023, the genetics scientific community celebrated two special anniversaries: the discovery of the double helix structure of DNA was published in 1953 and in 2003 the Human Genome Project was declared completed and made publicly available. To this day, genetics and genomics [...] Read more.
In 2023, the genetics scientific community celebrated two special anniversaries: the discovery of the double helix structure of DNA was published in 1953 and in 2003 the Human Genome Project was declared completed and made publicly available. To this day, genetics and genomics research is continuing to evolve at high pace and is identifying a steadily increasing number of genes as causal for distinct genetic diseases. The success story of genetics and genomics would not be complete without taking due account of the role of patient advocacy organizations in this process. This paper is based on the personal narrative (oral history) of a father whose daughter was born with a rare genetic disease (RGD) in the 1960s. The first-hand experience of living as a family with an RGD in those days made him a leading pioneer not only in the foundation of patient organizations at national, pan-European, and international levels but also in the development of multi-stakeholder co-operation and networking. Today, patient advocacy organizations play an active role in shaping health and research policies at national, EU, and international levels to ensure that their needs in regard to advancing RGD diagnostics, care, and treatment are addressed. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
11 pages, 966 KiB  
Article
Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies
by Dafne Dain Gandelman Horovitz, Têmis Maria Félix and Victor Evangelista de Faria Ferraz
Genes 2024, 15(8), 973; https://doi.org/10.3390/genes15080973 - 24 Jul 2024
Cited by 1 | Viewed by 1093
Abstract
Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the [...] Read more.
Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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16 pages, 973 KiB  
Article
Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of Networks
by Carmencita D. Padilla, Michelle E. Abadingo, Ebner Bon G. Maceda and Maria Melanie Liberty B. Alcausin
Genes 2024, 15(6), 780; https://doi.org/10.3390/genes15060780 - 13 Jun 2024
Viewed by 1676
Abstract
The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The Philippines, being an archipelago, faces even more challenges, with significant disparities in access to healthcare, and tertiary medical centers and specialists being concentrated [...] Read more.
The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The Philippines, being an archipelago, faces even more challenges, with significant disparities in access to healthcare, and tertiary medical centers and specialists being concentrated in the major cities. The utilization of different networks for the integration of genetic services in the existing public health delivery system has been valuable. Using the well-established network of the national newborn screening program, genetic services have been successfully integrated into the delivery of healthcare, even at the grassroot level. Equitable access to healthcare, including genetic services, was highlighted and supported by the enactment of the Rare Disease Law in 2016. The support of the academe to assure the sustainability of services was evident in the establishment of a genetic counseling program to augment the work of a handful of clinical geneticists. Professional societies and support groups have been instrumental in identifying genetic conditions to be prioritized and lobbying for increased public awareness, leading to national programs and policies. This paper primarily discusses the value of networks in the delivery of genetic services, specifically newborn screening, programs for rare diseases, birth defects, and genetic counseling. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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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
Cited by 2 | Viewed by 1933
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
Cited by 1 | Viewed by 1658
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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15 pages, 272 KiB  
Review
Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges
by Ulf Kristoffersson and Maria Johansson-Soller
Genes 2024, 15(9), 1205; https://doi.org/10.3390/genes15091205 - 13 Sep 2024
Viewed by 1463
Abstract
Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper reviews the advantages, drawbacks and challenges associated with PPGT, providing some practical guidance [...] Read more.
Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper reviews the advantages, drawbacks and challenges associated with PPGT, providing some practical guidance for health care professionals. Advantages include identification of genetic risks, a possibility to informed reproductive decision-making, and the potential to reduce the parents-to-be risk for an affected child. Challenges and drawbacks include provision of service, ethical considerations, genetic counselling complexities, and the need to increase public and professional awareness by comprehensive education and accessibility. Practical guidance involves considerations for selecting appropriate candidates, counselling strategies, and how to integrate PPGT into existing healthcare frameworks. By addressing these factors, PPGT can offer an increased reproductive informed choice for the individual and the couple reducing the burden of disease in the family. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
14 pages, 962 KiB  
Review
Genetic Screening—Emerging Issues
by Martina C. Cornel, Karuna R. M. van der Meij, Carla G. van El, Tessel Rigter and Lidewij Henneman
Genes 2024, 15(5), 581; https://doi.org/10.3390/genes15050581 - 3 May 2024
Viewed by 2589
Abstract
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, [...] Read more.
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples’ reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit–harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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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 - 3 Jan 2024
Cited by 1 | Viewed by 2848
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)

Other

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7 pages, 203 KiB  
Opinion
Population Screening for Hereditary Haemochromatosis—Should It Be Carried Out, and If So, How?
by Martin B. Delatycki and Katrina J. Allen
Genes 2024, 15(8), 967; https://doi.org/10.3390/genes15080967 - 23 Jul 2024
Viewed by 1651
Abstract
The Human Genome Project, completed in 2003, heralded a new era in precision medicine. Somewhat tempering the excitement of the elucidation of the human genome is the emerging recognition that there are fewer single gene disorders than first anticipated, with most diseases predicted [...] Read more.
The Human Genome Project, completed in 2003, heralded a new era in precision medicine. Somewhat tempering the excitement of the elucidation of the human genome is the emerging recognition that there are fewer single gene disorders than first anticipated, with most diseases predicted to be polygenic or at least gene-environment modified. Hereditary haemochromatosis (HH) is an inherited iron overload disorder, for which the vast majority of affected individuals (>90%) have homozygosity for a single pathogenic variant in the HFE gene, resulting in p.Cys282Tyr. Further, there is significant benefit to an individual in identifying the genetic risk of HH, since the condition evolves over decades, and the opportunity to intervene and prevent disease is both simple and highly effective through regular venesection. Add to that the immediate benefit to society of an increased pool of ready blood donors (blood obtained from HH venesections can generally be used for donation), and the case for population screening to identify those genetically at risk for HH becomes more cogent. Concerns about genetic discrimination, creating a cohort of “worried well”, antipathy to acting on medical advice to undertake preventive venesection or simply not understanding the genetic risk of the condition adequately have all been allayed by a number of investigations. So why then has HH population genetic screening not been routinely implemented anywhere in the world? The answer is complex, but in this article we explore the pros and cons of screening for HH and the different views regarding whether it should be phenotypic (screening for iron overload by serum ferritin and/or transferrin saturation) or genotypic (testing for HFE p.Cys282Tyr). We argue that now is the time to give this poster child for population genetic screening the due consideration required to benefit the millions of individuals at risk of HFE-related iron overload. Full article
(This article belongs to the Special Issue Human Genetics: Diseases, Community, and Counseling)
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