Communicating Carrier Status Information to Children: Their Ability to Understand Concepts Related to Genetic Testing

2007 ◽  
Vol 9 (3) ◽  
pp. 250-250
Author(s):  
Fiona Ulph ◽  
Cris Glazebrook ◽  
Ellen Townsend
Keyword(s):  
Genetic Testing ◽  
Carrier Status ◽  
Status Information

scholarly journals Successful Birth After Preimplantation Genetic Testing for a Couple With Two Different Reciprocal Translocations and Review of the Literature

2020 ◽  
Author(s):  
Dun Liu ◽  
Chuangqi Chen ◽  
Xiqian Zhang ◽  
Mei Dong ◽  
Tianwen He ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Reciprocal Translocation ◽  
Carrier Status ◽  
Review Of The Literature ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations ◽  
Translocation Breakpoints ◽  
Next Generation Sequencing Ngs ◽  
Low Coverage

Abstract Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated.Methods: The precise translocation breakpoints were identified by whole genome low-coverage sequencing (WGLCS) and Sanger sequencing. Next-generation sequencing (NGS) combining with breakpoint-specific polymerase chain reaction (PCR) was used to define 24-chromosome and the carrier status of the euploid embryos.Results: Surprisingly, 66.7% day-5 blastocysts were found to be balanced for maternal reciprocal translocation while being normal for paternal translocation and thus transferable. The transferable embryo rate was significantly higher than that which would be expected theoretically. Transfer of one balanced embryo resulted in the birth of a healthy boy. Conclusion(s): Our data of PGT-SR together with a systematic review of the literature should help in providing couples carrying two different reciprocal translocations undergoing PGT-SR with more appropriate genetic counseling.

scholarly journals Diagnostic assay for the causative allele for Jersey Neuropathy with Splayed Forelimbs.

2021 ◽  
Author(s):  
Ke Jiang ◽  
Anya Schween ◽  
Sarah Plummer ◽  
Brendan Keough ◽  
Matthew Campbell ◽  
...  
Keyword(s):  
Head And Neck ◽  
Diagnostic Test ◽  
Genetic Defect ◽  
Missense Variant ◽  
Carrier Status ◽  
Chromosome 6 ◽  
Diagnostic Assay ◽  
Neurologic Symptoms ◽  
Jersey Cattle ◽  
Status Information

Abstract The genetic defect Jersey Neuropathy with Splayed Forelimbs (JNS) was recently identified by the American Jersey Cattle Association ((AJCA), AJCA 2020). Affected calves are born alive but show several symptoms including being unable to stand on splayed forelimbs and neurologic symptoms including spasticity of head and neck and convulsive behavior. While a missense variant in UCLH1 chromosome 6 60,158,901G->A is the likely causative allele no commercial diagnostic assay currently is offered. Therefore, an animal's JNS status is currently based on a diagnostic SNP haplotype, which is not 100% accurate. To provide a more accurate carrier status information, we developed an in-house diagnostic test for the JNS causative allele. The assay information is provided below to allow diagnostic labs across the globe to quickly implement a causative allele diagnostic test and offer it to their local Jersey producers.

scholarly journals Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status

2007 ◽  
Vol 9 (2) ◽  
pp. 101-107 ◽  
Author(s):  
Trisha J Multhaupt-Buell ◽  
Anne Lovell ◽  
Lisa Mills ◽  
Kevin E Stanford ◽  
Robert J Hopkin
Keyword(s):  
Genetic Testing ◽  
Service Providers ◽  
Genetic Service ◽  
Carrier Status

Comparison of Lynch predictive models for identification of MLH1/MSH2 mutation carriers in a Spanish multicentre clinic- based cohort

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22077-e22077
Author(s):  
I. Valenzuela ◽  
J. Balmaña ◽  
M. Rue ◽  
I. Blanco ◽  
A. Torres ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Lynch Syndrome ◽  
Predictive Models ◽  
Carrier Status ◽  
Operating Characteristics ◽  
Comparative Performance ◽  
Large Rearrangement ◽  
Clinical Criteria ◽  
Msh2 Mutation ◽  
Mutation Carriers

e22077 Background: Different predictive models for Lynch syndrome have recently been developed and their comparative performance in a clinic-based cohort has not been assessed. We aimed to analyze the accuracy of the MMRpro, Barnetson, and PREMM1,2 models to predict MLH1/MSH2 mutation carrier status in 564 unrelated probands with clinical suspicion of hereditary colorectal cancer and compare it with Wijnen model and clinical criteria. Methods: Overall, 538 individuals (95%) underwent mismatch repair (MMR) deficiency screening before germline genetic testing (sequencing with or without large rearrangement analysis) and 26 (5%) performed direct genetic testing. Prediction scores for all individuals were calculated by each model. Sensitivity, specificity, positive predictive value (PPV), and the areas under the receiver operating characteristics curves (AUC) for all models were calculated and compared with the Revised Bethesda Guidelines (RBG). Results: 114 individuals (20%) were mutation carriers (63 MLH1, 51 MSH2). The AUC was 0.95 (95% CI: 0.93–0.97) for MMRpro, 0.87 (95% CI 0.83–0.91) for the Barnetson model, 0.87 (95% CI 0.83–0.91) for PREMM1,2, and 0.75 (95% CI 0.69–0.80) for the Wijnen model (p<0.001). Testing thresholds and specificity at 100% and 90% sensitivity for each model were: 0.001/17% and 0.33/89% for MMRpro, 0.01/9% and 0.07/59% for Barnetson, 0.05/5% and 0.11/58% for PREMM1,2. Sensitivity and specificity of RBG were 86% and 14%, respectively. Calibration was 0.92, 1.05, 0.50, and 1.25 for PREMM1,2,Barnetson, Wijnen, and MMRpro, respectively. Conclusions: In a population of individuals at risk of Lynch syndrome, the MMRpro model has the largest AUC, although the Barnetson and PREMM1,2 model also show adequate discrimination. Any of the models perform better than the RBG and provide quantitative risk estimation of finding a MLH1/MSH2 mutation useful in genetic counselling. No significant financial relationships to disclose.

Screening with whole-body MRI (WB-MRI) in pediatric patients with Li Fraumeni syndrome (LFS).

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 10071-10071
Author(s):  
Allison Frances O'Neill ◽  
Allie Steinberger ◽  
Stephan D. Voss ◽  
Elizabeth J. Root ◽  
Judy Ellen Garber ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Pediatric Patients ◽  
Cancer Surveillance ◽  
Whole Body ◽  
Hereditary Cancer Syndrome ◽  
Carrier Status ◽  
Cancer Syndrome ◽  
Scan Time ◽  
Wide Range

10071 Background: LFS is a rare hereditary cancer syndrome characterized by a high risk of developing a wide range of malignancies. Germline mutations in the tp53 gene confer approximately a 12-fold risk of developing cancer by age 20. Given the potential for diverse malignancies, cancer surveillance in LFS patients is challenging. We piloted the use of WB-MRI for pediatric LFS patients as a cancer screening tool. Methods: Eligibility included: documented tp53 mutation, or obligate carrier status based upon family history/genetic testing, and no recent cancer diagnosis. WB-MRI was performed as a research test, in conjunction with recommended clinical screening based upon family history and clinician recommendation. Our primary aim was to determine the feasibility (defined as 87% completion rate) of obtaining two planned annual MRI scans in 15 pediatric LFS patients. Our secondary aim was to calculate the incidence and describe the characteristics of primary cancers detected. Results: Nine pediatric patients from 5 families have been enrolled and all have successfully completed one WB-MRI. Seven patients were known carriers, and 2 underwent genetic testing in order to enroll in the study. Median age was 12 years, range 6 to 15. Scan time was 60-90 minutes and 2 patients required anesthesia with propofol. There were no acute scan complications. Six of the 9 (67%) scans demonstrated incidental findings (T2 cerebral cortex abnormality, L5-S1 synovial cyst, thoracic syrinx, T12 hemangioma, 2 ovarian cysts, and degenerative disc disease). Only one patient underwent a dedicated follow-up imaging study for an abnormality on WB-MRI. None of the patients required biopsy. All patients had normal screening laboratory work. These results are being presented early to foster collaboration. Conclusions: All patients enrolled on our study tolerated WB-MRI; none were diagnosed with a new malignancy. Although preliminary, our results to date are in contrast to previous reports documenting a high incidence of cancers detected during screening of LFS patients. WB-MRI may be a promising approach to screening; a large multi-center trial will be needed to determine its efficacy in detecting incident cancers and true test characteristics.

Genetic Testing in Li-Fraumeni Syndrome: Uptake and Psychosocial Consequences

2010 ◽  
Vol 28 (18) ◽  
pp. 3008-3014 ◽  
Author(s):  
Chantal R.M. Lammens ◽  
Neil K. Aaronson ◽  
Anja Wagner ◽  
Rolf H. Sijmons ◽  
Margreet G.E.M. Ausems ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Test ◽  
Family Members ◽  
Psychosocial Impact ◽  
Self Report ◽  
Hereditary Cancer Syndrome ◽  
Carrier Status ◽  
Presymptomatic Testing ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Purpose Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there are concerns about the potential adverse psychosocial impact of genetic testing for LFS. In this study, we evaluated the uptake of genetic testing and the psychosocial impact of undergoing or not undergoing a genetic test for LFS. Patients and Methods In total, 18 families with a p53 germline mutation in the Netherlands were identified. Eligible family members were invited to complete a self-report questionnaire assessing motives for undergoing or not undergoing genetic testing, LFS-related distress and worries, and health-related quality of life. Results Uptake of presymptomatic testing was 55% (65 of 119). Of the total group, 23% reported clinically relevant levels of LFS-related distress. Carriers were not significantly more distressed than noncarriers or than those with a 50% risk who did not undergo genetic testing. Those with a lack of social support were more prone to report clinically relevant levels of distress (odds ratio, 1.3; 95% CI, 1.0 to 1.5). Conclusion Although preventive and treatment options for LFS are limited, more than half of the family members from known LFS families choose to undergo presymptomatic testing. An unfavorable genetic test result, in general, does not cause adverse psychological effects. Nonetheless, it is important to note that a substantial proportion of individuals, irrespective of their carrier status, exhibit clinically relevant levels of distress which warrant psychological support.

scholarly journals Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Dun Liu ◽  
Chuangqi Chen ◽  
Xiqian Zhang ◽  
Mei Dong ◽  
Tianwen He ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Reciprocal Translocation ◽  
Carrier Status ◽  
Review Of The Literature ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations ◽  
Translocation Breakpoints ◽  
Next Generation Sequencing Ngs ◽  
Low Coverage

Abstract Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated. Methods The precise translocation breakpoints were identified by whole genome low-coverage sequencing (WGLCS) and Sanger sequencing. Next-generation sequencing (NGS) combining with breakpoint-specific polymerase chain reaction (PCR) was used to define 24-chromosome and the carrier status of the euploid embryos. Results Surprisingly, 2 out of 3 day-5 blastocysts were found to be balanced for maternal reciprocal translocation while being normal for paternal translocation and thus transferable. The transferable embryo rate was significantly higher than that which would be expected theoretically. Transfer of one balanced embryo resulted in the birth of a healthy boy. Conclusion(s) Our data of PGT-SR together with a systematic review of the literature should help in providing couples carrying two different reciprocal translocations undergoing PGT-SR with more appropriate genetic counseling.

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