Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Supervisors info:
Ιωάννα-Ραχήλ Συνοδινού-Traeger, Καθηγήτρια Γενετικής, Ιατρική Σχολή, ΕΚΠΑ
Χριστίνα Βρεττού, Μέλος Ε.ΔΙ.Π., Ιατρική Σχολή, ΕΚΠΑ
Κυριακή Κέκου, Μέλος Ε.ΔΙ.Π., Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Η κλινική χρησιμότητα του διευρυμένου ελέγχου φορείας στα πλαίσια του προγεννητικού ελέγχου μονογονιδιακών νοσημάτων: Προοπτικές και Περιορισμοί
Translated title:
Clinical utility of expanded carrier screening in prenatal testing for monogenic diseases: Prospects and Restrictions
Summary:
This dissertation is a study of bibliographical data and focuses on the analysis and
comparison of existing literature with regards to the expanded carrier screening in terms
of monogenic diseases, the outlooks and limitations. At first, the Expanded Carrier
Screening (ECS) regarding monogenic diseases and their inheritance motives and the
historic advances in carrier screening are presented. ECS is evaluated using the ACCE
model created by the ESHG. The factors used for the evaluation of genetic tests as ECS are the clinical utility, clinical validity and analytical validity. The challenges in ECS panel
design from commercial providers are analysed afterwards. The main challenge of ECS
design is the number of variants and which variant of each gene should be included in an
ECS panel, which are modified according the family history, the ancestry and the
commercially available panels. The scientific community follows the guidelines of
ACOG(American Community of Obstetricians and Gynecologists) and ACHG (American
Community of Human Genetics) for the construction of ECS panels and their application.
The medical community focuses mostly in a panethnic panel ECS. Each provider though
sets different criteria for the design of panels with multiple genes and assesses the results differently. That wide discrepancy in design and reproductive counseling that deprives from the different assessment of the colleration between a variant and the possible pathogeny among the medical community, make the implementation of a panethnic panel hard. ECS is based in gene sequencing. The available methods are the microarrays and the next generation sequencing (NGS) method. The Microarrays method controls a smaller number of genes and their known variants, and has great accuracy. The NGS method control the whole genome or the whole exome of the genome, with less accuracy though, compared with microarrays, and is more challenging regarding the result assessment. ECS is provided for couples considering to become parents and want to know the possibility of having a child carrying a monogenic recessive disease, and are interested in reproductive councelling from specialized health professionals. Apart from the design and application of ECS, there are important moral, ethical and legal issues regarding ECS, that concern the medical community. Prenatal control and specifically ECS, gives the possibility to a couple to change their reproductive decisions according the test results and should be performed from specialized health care providers. Even though many challenges are meet in ECS design, clinical application and genetic councelling, ECS
provides important information in couples that are prospective parents, and is an important asset of the reproductive health professionals.
Main subject category:
Health Sciences
Keywords:
Prenatal screening, Expanded prenatal screening, Monogenic recessive disorders, Sequencing, Gene variants, Genetic counceling
Number of references:
117
File:
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Louka Styliani Master.pdf.pdf
2 MB
File access is restricted only to the intranet of UoA.
