1.Direct-to-consumer genetic testing: advantages and pitfalls
Genomics & Informatics 2019;17(3):e33-
No abstract available.
Genetic Testing
2.Genetic analysis of complex diseases: status quo and prospects.
Acta Academiae Medicinae Sinicae 2009;31(6):661-663
This review comments the status quo, especially the major problems, of the genetic analysis of the complex diseases, provides some possible solutions, and explores the further development trends in this field.
Genetic Testing
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Humans
3.A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene.
Juanjuan WANG ; Xiaoliang HE ; Denghuan CHEN ; Shouwei HANG ; Yutong GAO ; Xu LI ; Kefei HU ; Chuanqing BAI ; Yuqing CHEN
Chinese Journal of Medical Genetics 2021;38(10):977-980
OBJECTIVE:
To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).
METHODS:
The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype.
RESULTS:
Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively.
CONCLUSION
The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing
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Humans
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Nucleotidyltransferases
5.Predictive factors for the successful implantation and live birth after Euploid Blastocyst Transfer: A single center study
Christine Joyce P. Maningas-Omolida ; Debbie Guani Dy-Meguizo ; Virgilio M. Novero Jr.
Philippine Journal of Reproductive Endocrinology and Infertility 2021;18(2):53-61
Background:
Pre-implantation Genetic Testing for Aneuploidy (PGT-A) has enabled IVF
specialists to screen embryos for abnormalities in chromosome number and structure.
Subsequently, healthy embryos are selected for transfer, decreasing the rate of spontaneous
miscarriages and improving pregnancy outcomes. In spite of this, almost only half of the PGTdetermined euploid embryos result in a pregnancy.
Objective:
This study aimed to determine what other factors among euploid embryo transfers
will have an association with successful implantation and live birth.
Methods:
This study retrospectively analyzed 159 IVF-PGS cycles performed in CARMI SLMCGC from January 2017 to December 2019. Of these, a total of 231 euploid embryos (86 single
embryo transfers and 73 double embryo transfers) were assessed. The relationship of eight
predictive variables (maternal age, maternal BMI, etiology of infertility, history of failed IVF,
blastocyst expansion stage, ICM grade, TE grade and endometrial thickness on transfer) with
regard to the outcome of successful implantation and live birth among single or double euploid
blastocyst transfers were determined via logistic regression analysis.
Results:
Overall, the implantation rate was significantly lower when using B-grade ICM or
C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR 0.54, 95% CI 0.356-
0.815, p = 0.003). With regard to live birth rate, the success of transfer is statistically lower
when using a B-grade or C-grade ICM blastocysts as compared to A-grade ICM blastocysts (OR
0.55, CI 0.354-0.863, p = 0.009). Other predictive factors such as maternal age, maternal BMI,
etiology of infertility, number of previous IVF, blastocyst expansion stage, trophectoderm grade
and endometrial thickness had no apparent effect on the outcome of implantation and live birth.
Conclusion
Present study results suggest that only the ICM grade of euploid blastocysts
correlates with implantation and live birth in IVF-FET cycles. Therefore, the selection of euploid
blastocysts based on the presence of a higher grade ICM is the most predictive factor that
determines success among those undergoing IVF with PGT-A.
Live Birth
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Genetic Testing
6.From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer
Annals of Laboratory Medicine 2020;40(2):99-100
No abstract available.
Breast Neoplasms
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Breast
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Genetic Testing
7.Regulated sandbox and disease-related genetic tests as a direct-to-consumer test
Journal of the Korean Medical Association 2019;62(5):240-242
Recently, the Korean government introduced a regulatory sandbox that includes direct-to-consumer (DTC) genetic tests. Several genetic testing companies received approval for predictive DTC genetic tests for conditions ranging from cancer to chronic diseases. However, it is not evident how DTC tests should be carried out and interpreted. It does not seem to estimate the accuracy of the predictive genetic testing from a two-year exemption trial. However, clinical laboratories can no longer explore innovative approaches to genetic testing because of the restrictive regulatory and legal environment. Genetic testing companies can provide DTC services without restrictions on facilities, equipment, and personnel although those testing services were not fully supported scientifically. Present situation in Korea on DTC genetic test should be reformed.
Chronic Disease
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Genetic Testing
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Korea
Result Analysis
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