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JPM
Special Issues
Genetic Counseling and Genetic Testing in Genomic Era
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Genetic Counseling and Genetic Testing in Genomic Era

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".

Deadline for manuscript submissions: closed (20 November 2023) | Viewed by 1290

Special Issue Editor

Dr. Leila Jamal

E-Mail Website
Guest Editor
Genomics Education Specialist, Genetics Branch, Center for Cancer Research, National Cancer Institute, Adjunct Faculty, Department of Bioethics, National Institutes of Health, Bethesda, MD, USA
Interests: ethics; health policy; health services research; genetic counseling; health communication

Special Issue Information

Dear Colleagues,

The aim of this Special Issue will be to highlight innovations in genetic counseling service delivery and outcomes that address the expansion of genomic testing in all aspects of healthcare and research. The journal is interested in original research articles, review articles, and commentaries addressing emerging professional issues related to genetic counseling. We will not accept work that has been previously published or which is currently being considered for publication elsewhere. Authors from any healthcare, social science, or public health discipline are encouraged to submit articles. We especially welcome articles that address topics related to diversity, equity, and inclusion in genetic counseling.

Dr. Leila Jamal
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

  • genetic counseling
  • genomics
  • service delivery
  • health outcomes
  • precision medicine
  • personalized medicine
  • health communication
  • social issues

Published Papers (1 paper)

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Research

21 pages, 279 KiB  
Article
Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens
by Farheen Hakim Zada, Ahmad Hazim Syakir Ahmad Azahari, Sau Wei Wong, Adli Ali and Noor Akmal Shareela Ismail
J. Pers. Med. 2023, 13(12), 1652; https://doi.org/10.3390/jpm13121652 - 27 Nov 2023
Viewed by 1092
Abstract
Neuromuscular disorders, characterized by progressive muscle degeneration and weakness, present substantial challenges to both affected individuals and their families. Genetic testing assumes a pivotal role in facilitating early diagnosis, intervention, treatment, and informed family planning for these conditions. The objective of this qualitative [...] Read more.
Neuromuscular disorders, characterized by progressive muscle degeneration and weakness, present substantial challenges to both affected individuals and their families. Genetic testing assumes a pivotal role in facilitating early diagnosis, intervention, treatment, and informed family planning for these conditions. The objective of this qualitative study is to delve into the knowledge, awareness, and perceptions surrounding genetic testing within the cohort of parents caring for individuals with neuromuscular disorders in Malaysia. A semi-structured interview approach was employed to elicit data from parents of individuals diagnosed with neuromuscular disorders, encompassing those with clinical diagnoses and those diagnosed through genetic testing. Examination of the interview responses yielded nine overarching themes, which furnish invaluable insights into the perspectives of Malaysian parents concerning genetic testing. The study discerned several challenges associated with genetic testing, notably encompassing the limited awareness among parents, the financial constraints associated with genetic testing, and the perceived significance of genetic testing in the context of neuromuscular disorders. The findings suggest that the level of knowledge and awareness pertaining to genetic testing for neuromuscular disorders among parents in Malaysia varies, with initial levels of awareness ranging from relatively low to reasonably sufficient prior to and following the birth of an affected child. However, the investigation revealed that parents tended to cultivate more favorable perceptions regarding genetic testing subsequent to their experience with genetic counseling. This underscores the potential for heightened awareness and comprehension as a consequence of the personal experience of parenting an affected child confirmed through genetic testing and genetic counseling, ultimately influencing parental awareness. Full article
(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Genomic Era)
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