Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology

Martin, J. Lercher; Asan,; Yi, Yuting; Alberola, Trinidad M.; Rodríguez-Iglesias, Beatriz; Jiménez-Almazán, Jorge; Li, Qin; Du, Huiqian; Alamá, Pilar; Ruı́z, Amparo; Bosch, Ernesto; Garrido, Nicolás; Simón, Carlos

doi:10.1016/j.fertnstert.2015.07.1166

Cited by 66 publications

(62 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some of these recent applications of GT include presymptomatic/ predictive testing of healthy individuals for susceptibility to develop a disease later in life, pharmacogenomic and nutrigenomic GT aimed at optimizing medical treatment and diet, respectively, based on one's genetic makeup (National Institutes of Health, 2010;Collins et al, 2014). Moreover, recent developments in human genetics have revolutionized GT for reproductive purposes, such as through carrier screening for monogenic recessive disorders, where individuals or couples can now be tested for the carrier status of hundreds of recessive conditions that may affect their children (Srinivasan et al, 2010;Martin et al, 2015;Nazareth et al, 2015;Silver et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium

Chokoshvili

Belmans

Poncelet

et al. 2017

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Aims: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). Materials and Methods: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. Results: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48.5 years. Our respondents expressed moderate interest in predictive GT, with 39.1% willing to learn about their predisposition to diseases through GT and 49.5% indicating interest in getting tested exclusively for treatable/preventable diseases. We observed higher interest in GT for reproductive purposes, such as preconception screening for recessive disorders (53.8%) and prenatal GT (60.7%). A substantial minority (46.4%) of the respondents were worried that GT could further stigmatize people with disabilities, while 39.7% believed that carrier screening for recessive diseases would lead to an inferior image of people affected by them. Conclusion: Paying due attention to the attitudes, beliefs, and concerns of the general public is important to ensure ethically sound and socially acceptable implementation of new genetic technologies.

show abstract

Section: Introductionmentioning

confidence: 99%

Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium

Chokoshvili

Belmans

Poncelet

et al. 2017

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

“…Until now, particularly targeted, gene panel-based, nextgeneration sequencing approaches have been described. 2,[7][8][9] An approach using targeted analysis after untargeted whole-exome sequencing (WES) has been explored in one study that filtered for identical mutations in approximately 500 genes in both partners of four consanguineous couples. 10 However, systematic assessment of the use of WES for PCS has not been performed so far.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive strategy for exome-based preconception carrier screening

Sallevelt

Koning

Szklarczyk

et al. 2017

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. Methods:Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome. Unclassified variants were not included. Results:This yielded an average of 29 (19-51) variants in genes shared by the consanguineous couples and 15 (6-30) shared by the nonconsanguineous couples. For X-linked variants, the numbers per female were 3 (1-5) and 1 (0-3), respectively. Remaining variants were verified manually. The majority were able to be quickly discarded, effectively leaving true pathogenic variants. Conclusion:We conclude that WES is applicable for PCS, both for consanguineous and nonconsanguineous couples, with the remaining number of variants being manageable in a clinical setting. The addition of gene panels for filtering was not favorable because it resulted in missing pathogenic variants. It is important to develop and continuously curate databases with pathogenic mutations to further increase the sensitivity of WES-based PCS.

show abstract

“…Of 3738 couples (6643 individuals) screened, 25.1% of individuals were found to carry at least one pathogenic mutation, and eight (0.21%) of the couples were found to be carriers of the same genetic conditions not detectable by existing screening programmes. In their study, Martin et al . found that 5% of couples were carriers of the same genetic disease which affected reproductive choices.…”

Section: Disclosure Of Interestsmentioning

confidence: 99%

“…The majority (76.7%) of these mutations were not covered (and would have been missed) by traditional ACOG screening guidelines. In another study, Martin et al . reported the use of next‐generation sequencing‐based ECS of 549 recessive and X‐linked genetic conditions of 2570 infertile couples undergoing assisted reproductive technology.…”

Section: Disclosure Of Interestsmentioning

confidence: 99%

Obstetricians should get ready for expanded carrier screening

Lau¹

2016

BJOG

View full text Add to dashboard Cite

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology

Abstract: We have developed a comprehensive carrier genetic screening test that, combined with our matching system and genetic counseling, constitutes a powerful tool to avoid more than 600 mendelian diseases in the offspring of patients undergoing ART.

Cited by 66 publications

References 28 publications

Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium

Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium

A comprehensive strategy for exome-based preconception carrier screening

Obstetricians should get ready for expanded carrier screening

Contact Info

Product

Resources

About