Explanipedia

P.024 Sex and gender reporting in clinical trials among neurological US Food and Drug Administration approvals Open

Liam Cooper-Brown, J Chen, J Chen, Abbas Ebadi, L. Wilson , et al. · 2024

Background: Sex and gender are related but distinct determinants of disease, treatment response, and research reproducibility whose consideration is increasingly required for research funding. Nevertheless, the quality of sex and gender re…

The evolution of genetic counseling at Johns Hopkins Hospital and beyond Open

Virginia L. Corson, Barbara A. Bernhardt · 2021

In celebration of the 100th birthday of Dr. Victor A. McKusick, we look back at the history of genetic counseling at Johns Hopkins Hospital and at some milestones for the profession. With the first students graduating from the Human Geneti…

Consent for Clinical Genome Sequencing: Considerations from The Clinical Sequencing Exploratory Research Consortium Open

Joon‐Ho Yu, Paul S. Appelbaum, Kyle B. Brothers, Steven Joffe, Tia L. Kauffman , et al. · 2019

Implementing genome and exome sequencing in clinical practice presents challenges, including obtaining meaningful informed consent. Consent may be challenging due to test limitations such as uncertainties associated with test results and i…

Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies Open

Jill O. Robinson, Julia Wynn, Barbara B. Biesecker, Leslie G. Biesecker, Barbara A. Bernhardt , et al. · 2019

Authors Open

Paul S. Appelbaum, Barbara A. Bernhardt, Benjamin Cheung · 2019

Sequencing and a series of papers exploring the implications of uncertain genomic findings in prenatal and pediatric settings.BARBARA B. BIESECKER is a distinguished fellow at RTI International.Her expertise is in social and behavioral res…

Qualitative study of system-level factors related to genomic implementation Open

Alexis Zebrowski, Darcy E. Ellis, Frances K. Barg, Nina Sperber, Barbara A. Bernhardt , et al. · 2018

Clinical providers’ experiences with returning results from genomic sequencing: an interview study Open

Julia Wynn, Katie L. Lewis, Laura M. Amendola, Barbara A. Bernhardt, Sawona Biswas , et al. · 2018

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium Open

Laura M. Amendola, Jill O. Robinson, Ragan Hart, Sawona Biswas, Kaitlyn Lee , et al. · 2018

Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of li…

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing Open

Tara Schmidlen, Amy C. Sturm, Shelly R. Hovick, Laura Scheinfeldt, J. Scott Roberts , et al. · 2018

With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe…

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings Open

Kurt D. Christensen, Barbara A. Bernhardt, Gail P. Jarvik, Lucia A. Hindorff, Jeffrey Ou , et al. · 2018

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families? Open

Sarah A. Walser, Allison Werner‐Lin, Rebecca Mueller, Victoria A. Miller, Sawona Biswas , et al. · 2017

Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

A taxonomy of medical uncertainties in clinical genome sequencing Open

Paul K. J. Han, Kendall L. Umstead, Barbara A. Bernhardt, Robert C. Green, Steven Joffe , et al. · 2017

Genomic decision support needs in pediatric primary care Open

Jeffrey W. Pennington, Dean Karavite, Edward Krause, Jeffrey M. Miller, Barbara A. Bernhardt , et al. · 2017

Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the pr…

Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study Open

Kevin Sweet, Shelly R. Hovick, Amy C. Sturm, Tara Schmidlen, Erynn S. Gordon , et al. · 2016

Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients’ motivations, preferences, and informational needs are esse…

An Observational Study of Children’s Involvement in Informed Consent for Exome Sequencing Research Open

Victoria A. Miller, Allison Werner‐Lin, Sarah A. Walser, Sawona Biswas, Barbara A. Bernhardt · 2016

The goal of this study was to examine children’s involvement in consent sessions for exome sequencing research and associations of involvement with provider and parent communication. Participants included 44 children (8-17 years) from five…

Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America Open

Melanie Baxter, Lori H. Erby, Debra Roter, Barbara A. Bernhardt, Peter B. Terry , et al. · 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine Open

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum , et al. · 2016

Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing Open

Allison Werner‐Lin, Judith L. M. McCoyd, Barbara A. Bernhardt · 2016

Genetic counselors frequently are called upon to assist patients in understanding the implications of prenatal testing information for their pregnancies and their family's lives. The introduction of highly sensitive testing such as chromos…

Recommendations for the integration of genomics into clinical practice Open

Sarah Bowdin, A Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam , et al. · 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine Open

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum , et al. · 2016

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results Open

Sarah A. Walser, Allison Werner‐Lin, Amita Russell, Ronald J. Wapner, Barbara A. Bernhardt · 2016

This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision‐making and concern about pregnancy. We interviewed 28 women and 12 mal…

National Society Of Genetic Counselors Natalie Weissberger Paul National Leadership Award Address: “Patients and Research: Paths to Personal and Professional Growth” Open

Barbara A. Bernhardt · 2016

Thank you so much to the NSGC and the Awards Committee for this wonderful honor. I feel fortunate to be able to claim to be a genetic counselor, and to have interacted with so many accomplished and supportive genetic counseling colleagues …

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine Open

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum , et al. · 2016

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinica…

“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing Open

Ashley N. Tomlinson, Debra Skinner, Denise Perry, Sarah Scollon, Myra I. Roche , et al. · 2016

As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have surfaced. Despite the importance of informed consent, little is known about the speci…

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders Open

Jill Fonda Allen, Katie Stoll, Barbara A. Bernhardt · 2015

The IGNITE network: a model for genomic medicine implementation and research Open

Kristin Weitzel, Madeline Alexander, Barbara A. Bernhardt, Neil Calman, David J. Carey , et al. · 2015

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority Open

Kyle B. Brothers, Ingrid A. Holm, Janet E. Childerhose, Armand H. Matheny Antommaria, Barbara A. Bernhardt , et al. · 2015

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders Open

Marian Reiff, Ellen Giarelli, Barbara A. Bernhardt, Ebony Easley, Nancy B. Spinner , et al. · 2015

Illustrative Case Studies in the Return of Exome and Genome Sequencing Results Open

Laura M. Amendola, Denise Lautenbach, Sarah Scollon, Barbara A. Bernhardt, Sawona Biswas , et al. · 2015

Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) c…

Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing Open

Sarah A. Walser, Katherine Kellom, Steven C. Palmer, Barbara A. Bernhardt · 2015

What's already known about this topic? Most women desire comprehensive education about prenatal screening and testing for genetic disorders, but little is known about their specific needs pre‐testing and post‐testing. To develop guidelines…

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