Genetic Counseling and Genome Sequencing in Pediatric

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

Deadline for manuscript submissions: 25 June 2026

Special Issue Editor


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Guest Editor
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-059 Lublin, Poland
Interests: genetic diagnostics; leukemia; hematologic diseases; pediatrics; target therapy

Special Issue Information

Dear Colleagues,

Many pediatric diseases are caused by genetic mutations. Traditional diagnosis and treatment models mainly rely on clinical symptom observation and limited genetic testing technology, which often faces challenges such as a long diagnosis cycle and limited accuracy. With the advent of personalized medicine, the rapid development of high-throughput genome sequencing technology and genetic counseling has delivered revolutionary breakthroughs in the precise diagnosis, risk prediction and personalized treatment of pediatric genetic diseases, significantly improving the diagnosis and treatment effects and long-term survival quality of children.

This Special Issue aims to promote deep integration of the precise diagnosis and treatment of pediatric diseases with personalized medicine, promote the clinical transformation of genome sequencing technology, standardize the practice of genetic counseling, and optimize multidisciplinary collaborative diagnosis and treatment models. We hope to provide new ideas for early intervention and personalized management of pediatric diseases by bringing together cutting-edge research results and clinical practice experience.

We welcome submissions of original research articles and reviews covering but not limited to the following: the application of pediatric genome sequencing, genetic counseling strategies, bioinformatics analysis, personalized treatment, etc., to jointly promote innovation and development in this field!

Dr. Monika Lejman
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.

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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

  • pediatric disease
  • genome sequencing
  • genetic counseling
  • personalized medicine
  • genetic diagnostics

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Published Papers

This special issue is now open for submission.
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