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Articles 61 - 64 of 64
Full-Text Articles in Genetics and Genomics
Experience With Snp-Based Nipt In A General Population Cohort In The Bronx, Ny, Megan Crawley, Suvina To
Experience With Snp-Based Nipt In A General Population Cohort In The Bronx, Ny, Megan Crawley, Suvina To
Human Genetics Theses
NIPT uptake in the general population has been rapidly increasing despite relatively low incidences of fetal aneuploidy in this cohort. This is further complicated by the inclusion of microdeletion syndromes, which have even lower positive predictive values (PPVs). This retrospective pilot study examines the performance and impact on patient decision making of a SNP-based NIPT in a general population cohort. A chart review was conducted of NIPT results from January 1, 2014 to August 24, 2015 at Montefiore Medical Center in the Bronx, NY. NIPT results were obtained for 3,747 samples. 1.33% of reports were high risk. One third of …
Addressing Intimate Partner Violence In Genetics Patient Perspectives On Intimate Partner Violence Discussion And/Or Disclosure During Genetic Counseling Sessions, Christina Chen
Human Genetics Theses
Intimate partner violence (IPV) is a major health concern that has become a nationwide epidemic in the United States (ACOG, 2013). The World Health Organization (WHO) describes IPV as physical, sexual, psychological harm including physical aggression and sexual coercion by a current or former intimate partner (WHO, 2015). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual wellbeing, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in the genetic counseling practice by investigating the incidence, awareness, …
Assessing Tumor Genomic Profiling Reports For Genetic Counseling Referral Indications, Margaret Mcduffee, Michelle Ning
Assessing Tumor Genomic Profiling Reports For Genetic Counseling Referral Indications, Margaret Mcduffee, Michelle Ning
Human Genetics Theses
Our purpose is two-fold: (1) to identify patients who may benefit from referrals to cancer genetic counseling by characterizing the alterations reported in tumor profiling reports without matched germline control, and (2) to assess the utility of public database ClinVar in providing further information on these alterations. We assessed 160 reports across 66 tumor types. 127 (79%) reports had a mutation in 1 of 86 selected cancer predisposition genes. Of these, 29 (23%) did not meet ACMG/NSGC criteria for referral based on tumor type alone. 19% of mutations in selected genes were found in ClinVar, with 15% reported as both …
Knowledge And Attitude Of Physicians, Cancer Patients And Public About Cancer Related Genetic Tests In Saudi Arabia, Lamia Fahad Alsubaie
Knowledge And Attitude Of Physicians, Cancer Patients And Public About Cancer Related Genetic Tests In Saudi Arabia, Lamia Fahad Alsubaie
Human Genetics Theses
Due to the unique religious and cultural characteristics of Saudi Arabia, evaluating knoweldge and exploring attitudes toward cancer genetic tests (CGT) are important for bolstering currently underdeveloped CGT services. This cross sectional study was carried out in the form of a survey, targeting three different populations: physicians (n=105), cancer patients (n=102) and public participants (n=1087). The public cohort recorded a knowledge score (M=7.16, Mdn=7.00,SD=2.58) higher than patients cohort (M=4.98,Mdn=5.00,SD=2.95). Both patient and public participants expressed interest in CGT. Willingness to undergo CGT correlated with high knowledge in the public cohort (r (1083)= .12, p