Cystic fibrosis carrier screening in a North American population

Zvereff, Val; Faruki, Hawazin; Edwards, Marcia; Friedman, Kenneth J.

doi:10.1038/gim.2013.188

Cited by 43 publications

(38 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We conducted a limited carrier screen for variants relevant to cystic fibrosis ( CFTR , MIM: 219700), beta-thalassemia ( HBB , MIM: 613985), sickle cell disease ( HBB , MIM: 603903), and Tay-Sachs disease ( HEXA , MIM: 272800), which are among the most common Mendelian diseases (average carrier risk is 1/40) 7 – 9 . We observed eight P/LP variants in CFTR across 35 individuals (4.4% of parent cohort), four HEXA variants across five individuals (0.6%), and three HBB variants across eight individuals (1%) ( Table 2 ; Table S2 ).…”

Section: Resultsmentioning

confidence: 99%

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Thompson

Finnila

Bowling

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

PURPOSEClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.METHODSExome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed.RESULTSPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the ACMG. These 25 individuals self-reported, either: relevant clinical diagnoses (5), relevant family history or symptoms (13), or no relevant family history, symptoms or clinical diagnoses (7). A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also analyzed as mate-pairs (n=365) to identify cases in which both parents were carriers for the same recessive disease, yielding three such cases (0.8%), two of which had children with the relevant recessive disease. Four participants had two findings (one carrier and one non-carrier variant). In total, 71 of the 789 enrolled parents (9.0%) received secondary findings.CONCLUSIONWe provide an overview of the rates and types of clinically relevant secondary findings, which may be useful in the design, and implementation of research and clinical sequencing efforts to identify such findings.

show abstract

Section: Resultsmentioning

confidence: 99%

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Thompson

Finnila

Bowling

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

“…We conducted a limited carrier screen for variants relevant to cystic fibrosis (CFTR, MIM: 219700), beta-thalassemia (HBB, MIM: 613985), sickle cell disease (HBB, MIM: 603903), and Tay-Sachs disease (HEXA, MIM: 272800), which are among the most common Mendelian diseases (average carrier risk is 1/40) [7][8][9] . We observed eight P/LP variants in CFTR across 35 individuals (4.4% of parent cohort), four HEXA variants across five individuals (0.6%), and three HBB variants across eight individuals (1%) ( Table 2; Table S2).…”

Section: Carrier Status Findingsmentioning

confidence: 99%

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Thompson

Finnila

Bowling

et al. 2017

Preprint

View full text Add to dashboard Cite

PURPOSE: Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS: Exome/genome sequencing and analysis of 789 'unaffected' parents was performed. RESULTS: Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the ACMG. Of the 25 individuals, five carried a variant consistent with a previous clinical diagnosis, thirteen were not previously diagnosed but had symptoms or family history with probable association with the detected variant, and seven reported no symptoms or family history of disease. A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also analyzed as matepairs to identify cases in which both parents were carriers for the same recessive disease; this led to one finding in ATP7B. Four participants had two findings (one carrier and one non-carrier variant). In total, 71 of the 789 enrolled parents (9.0%) received secondary findings. CONCLUSION:We provide an overview of the rates and types of clinically relevant secondary findings, which may be useful in the design, and implementation of research and clinical sequencing efforts to identify such findings.

show abstract

“…Such programs are undertaken in some regions around the world, as in Australia, in the Veneto region in Italy or in the US [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Highlighting the impact of cascade carrier testing in cystic fibrosis families

Duguépéroux

L’Hostis

Audrézet

et al. 2016

Journal of Cystic Fibrosis

View full text Add to dashboard Cite

show abstract

Cystic fibrosis carrier screening in a North American population

Cited by 43 publications

References 25 publications

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Highlighting the impact of cascade carrier testing in cystic fibrosis families

Contact Info

Product

Resources

About