Genetic Counseling

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  Subject Areas on Research

  • "Family matters": a conceptual framework for genetic testing in children. 
  • A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. 
  • A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease. 
  • Abnormalities of Fetal Situs: An Overview and Literature Review. 
  • Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation. 
  • Associations of Diabetes Genetic Risk Counseling with Incident Diabetes and Weight: 5-Year Follow-up of a Randomized Controlled Trial. 
  • Attitudes of paediatric and obstetric specialists towards prenatal surgery for lethal and non-lethal conditions. 
  • BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines. 
  • Call for action: expanding global access to hereditary cancer genetic testing. 
  • Caring for patients with sickle cell disease in North Carolina. 
  • Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. 
  • Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. 
  • Celebrating the 20th anniversary of the Journal of Genetic Counseling. 
  • Characterization of BRCA1 and BRCA2 mutations in a large United States sample. 
  • Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. 
  • Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry. 
  • Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. 
  • Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists. 
  • Comparison of Telephone and Televideo Modes for Delivery of Genetic Counseling: a Randomized Trial. 
  • Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations. 
  • Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals. 
  • Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. 
  • Detecting celiac disease in patients with Down syndrome. 
  • Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory. 
  • Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. 
  • Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors. 
  • Does Type 2 Diabetes Genetic Testing and Counseling Reduce Modifiable Risk Factors? A Randomized Controlled Trial of Veterans. 
  • Ensuring the safe use of genomic medicine in children. 
  • Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach. 
  • Ethical issues of predictive genetic testing for diabetes. 
  • Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial. 
  • FOXN1 mutation abrogates prenatal T-cell development in humans. 
  • Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. 
  • Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists. 
  • Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 
  • Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? 
  • Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. 
  • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. 
  • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. 
  • Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 
  • Genetic/familial high-risk assessment: breast and ovarian. 
  • Genetic/familial high-risk assessment: breast and ovarian. 
  • Genetics for the Women's Health Trainee: A Five-Module Curriculum. 
  • Genomic counseling: next generation counseling. 
  • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium. 
  • Germline Genetic Testing: What the Breast Surgeon Needs to Know. 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hereditary nonpolyposis colorectal cancer: preventive management. 
  • Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 
  • IGNITE network: Response of patients to genomic medicine interventions. 
  • Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. 
  • Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes. 
  • Impact of delivery models on understanding genomic risk for type 2 diabetes. 
  • Impact of self-reported data on the acquisition of multi-generational family history and lifestyle factors among women seen in a high-risk breast screening program: a focus on modifiable risk factors and genetic referral. 
  • Impact of the Cancer Risk Intake System on patient-clinician discussions of tamoxifen, genetic counseling, and colonoscopy. 
  • Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities. 
  • Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand. 
  • Increasing productivity and reducing errors through usability analysis: a case study and recommendations. 
  • Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome. 
  • Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association. 
  • Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. 
  • Living with genetic risk: effect on adolescent self-concept. 
  • Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18. 
  • Management of Male Breast Cancer: ASCO Guideline. 
  • Management of Ventricular Arrhythmias and Sudden Cardiac Death Risk Associated With Cardiac Channelopathies. 
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. 
  • New approaches to assessing and treating early-stage colon and rectal cancer: summary statement from 2007 Santa Monica Conference. 
  • Newborn screening for severe combined immunodeficiency (SCID): a review. 
  • Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 
  • Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. 
  • Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. 
  • Pharmacogenetic testing: not as simple as it seems. 
  • Pompe disease diagnosis and management guideline. 
  • Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. 
  • Pre-counseling education materials for BRCA testing: does tailoring make a difference? 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Prenatal diagnosis of mosaic trisomy 13: a case report. 
  • Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. 
  • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. 
  • Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine? 
  • Professional perspectives about pharmacogenetic testing and managing ancillary findings. 
  • Public perspectives about pharmacogenetic testing and managing ancillary findings. 
  • Quality measures in high-risk pregnancies: Executive Summary of a Cooperative Workshop of the Society for Maternal-Fetal Medicine, National Institute of Child Health and Human Development, and the American College of Obstetricians and Gynecologists. 
  • Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review. 
  • Randomized Trial of Telegenetics vs. In-Person Cancer Genetic Counseling: Cost, Patient Satisfaction and Attendance. 
  • Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction. 
  • Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. 
  • Regulation: The FDA is Overcautious on Consumer Genetics 
  • Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling. 
  • Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. 
  • Stability of self-reported family history of prostate cancer among African American men. 
  • Striking a balance in communicating pharmacogenetic test results: promoting comprehension and minimizing adverse psychological and behavioral response. 
  • Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing. 
  • The FMR1 premutation and reproduction. 
  • The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. 
  • The role of CARE (Comprehensive Autopsy Review and Evaluation) in a prenatal diagnosis program. 
  • The use of chromosomal microarray for prenatal diagnosis. 
  • Thrombophilia screening in asymptomatic children. 
  • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. 
  • Turner phenotype in mother and daughter. 
  • Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. 
  • Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance. 
  • What are the required components of pre- and post-test counseling? 
  • What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing. 
  • What's New in Genetic Testing for Cancer Susceptibility? 
  • [Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]. 
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  Keywords of People

  • Landstrom, Andrew Paul, Associate Professor of Pediatrics, Cell Biology
  • Yancy Jr., William Samuel, Professor of Medicine, Medicine, General Internal Medicine