Barbara A Bernhardt
Affiliation: University of Pennsylvania
- An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testingBarbara A Bernhardt
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA
J Genet Couns 23:938-47. 2014..Further genetic counselor education and training aimed at improving counselors' personal comfort with uncertain results and communicating about them with patients is needed...
- Women's experiences receiving abnormal prenatal chromosomal microarray testing resultsBarbara A Bernhardt
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Genet Med 15:139-45. 2013..We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting...
- Distress and burnout among genetic service providersBarbara A Bernhardt
Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Genet Med 11:527-35. 2009..To determine the nature, sources, prevalence, and consequences of distress and burnout among genetics professionals...
- Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasiaBarbara A Bernhardt
Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Pennsylvania, USA
Genet Med 13:812-20. 2011..Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia...
- What keeps you up at night? Genetics professionals' distressing experiences in patient careBarbara A Bernhardt
Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Genet Med 12:289-97. 2010..To explore specific patient care experiences that genetics professionals associate with distress and the emotions engendered by those experiences...
- How do obstetric providers discuss referrals for prenatal genetic counseling?Barbara A Bernhardt
Department of Health Policy and Management, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
J Genet Couns 14:109-17. 2005..In addition, obstetric providers' inadequate descriptions of prenatal genetic counseling may result in women being poorly prepared for genetic counseling sessions...
- What do clinicians derive from partnering with their patients? A reliable and valid measure of "personal meaning in patient care"Gail Geller
Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD 21205, USA
Patient Educ Couns 72:293-300. 2008..Burnout is high among clinicians and may relate to loss of "meaning" in patient care. We sought to develop and validate a measure of "personal meaning" that practitioners derive from patient care...
- Houseofficers' reactions to media coverage about the sequencing of the human genomeGail Geller
Genetics and Public Policy Studies, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Soc Sci Med 56:2211-20. 2003..However, this will require that physicians develop an appreciation of the newsmaking process, and how subtle interactions between politics, the media and science influence the "framing" of media coverage...
- The adolescent research participant: strategies for productive and ethical interviewingRita Mack
University of Pennsylvania, School of Nursing, Philadelphia, PA, USA
J Pediatr Nurs 24:448-57. 2009..Strategies presented are useful to clinicians who wish to establish a therapeutic rapport with young patients...
- The quality of media reports on discoveries related to human genetic diseasesNeil A Holtzman
Genetics and Public Policy Studies, Institute of Genetic Medicine, The Johns Hopkins Medical Institutions, Baltimore, MD 21209, USA
Community Genet 8:133-44. 2005..To examine (1) the quality of media reports (newspapers, television and public radio) of genetic discoveries with medical relevance and (2) factors related to the completeness and balance of the stories...
- Genomic variation: what does it mean?Marian Reiff
Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
LDI Issue Brief 18:1-4. 2013..This Issue Brief summarizes a series of studies examining the uncertainties revolving around chromosomal microarray testing, which has become the new standard of practice in genetic testing of children with unexplained anomalies...
- Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorderEllen Giarelli
University of Pennsylvania, Philadelphia, 19104, USA
Health Educ Behav 37:133-50. 2010..The patient-parent-physician relationship is the context for teaching adolescents and young adults self-surveillance skills. Self-surveillance by patients is first-line symptom assessment and an adjunct to medical monitoring...
- Scientists' and science writers' experiences reporting genetic discoveries: toward an ethic of trust in science journalismGail Geller
Phoebe Berman Bioethics Institute, Johns Hopkins University, Baltimore, Maryland 21205, USA
Genet Med 7:198-205. 2005..To describe the relationship between scientists and science writers and their experiences with media reporting of genetic discoveries...
- "What does it mean?": uncertainties in understanding results of chromosomal microarray testingMarian Reiff
Center for the Integration of Genetic Healthcare Technologies, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Genet Med 14:250-8. 2012..This paper explores how families understand and make meaning of CMA test results, and identifies the needs of families undergoing CMA testing...
- Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasiaBarbara A Bernhardt
Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Genet Med 14:604-10. 2012..We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives...
- Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disordersMarian Reiff
Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA
J Autism Dev Disord 45:3262-75. 2015..Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing. ..
- A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practiceMarian Reiff
Center for the Integration of Genetic Health Care Technologies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
J Genet Couns 23:474-88. 2014....
- The role and impact of personal faith and religion among genetic service providersGail Geller
Johns Hopkins University, 624 N Broadway, Baltimore, MD 21205, USA
Am J Med Genet C Semin Med Genet 151:31-40. 2009..Efforts should be made to prevent or reduce the secrecy surrounding personal faith and religion among genetics professionals...
- The media and public reaction to genetic researchGail Geller
Johns Hopkins University, Baltimore, MD, USA
JAMA 287:773. 2002
- Informed consent for enrolling minors in genetic susceptibility research: a qualitative study of at-risk children's and parents' views about children's role in decision-makingGail Geller
Department of Pediatrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
J Adolesc Health 32:260-71. 2003....
- Genetic risk perception and reproductive decision making among people with epilepsyKatherine L Helbig
Genetic Counseling Program, Arcadia University, Glenside, Pennsylvania, USA
Epilepsia 51:1874-7. 2010..The mean estimated risk of offspring to develop epilepsy was 26%, a 4-fold increase over estimated population risks. Genetic counseling may be beneficial for people with epilepsy, given the considerable overestimation of offspring risk...
- When genetic screening is useful, but not usedBarbara A Bernhardt
Center for Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, PA, USA
LDI Issue Brief 16:1-4. 2011..It explores the barriers to the use of genetic screening and has implications for the future as genetic technologies become more complex and produce more uncertainty...
- Pregnancy as a proclamation of faith: Ultra-Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosisElly Teman
Penn Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, USA
Am J Med Genet A 155:69-80. 2011..This research has implications for genetic service providers when discussing prenatal testing and fetal anomalies with Haredi women...
- Active recruitment increased enrollment in a hereditary cancer registryTara M Friebel
Mid Atlantic Cancer Genetics Network, Department of Pathology, Johns Hopkins University School of Medicine, Park SB202, 600 N Wolfe St, Baltimore, MD 21287, USA
J Clin Epidemiol 57:1172-6. 2004..We sought to determine whether different recruitment methods used in a high-risk breast and ovarian cancer clinic yielded differences into enrollment into MACGN...
- Outpatient single-session pulmonary arteriovenous malformation embolizationScott O Trerotola
Department of Radiology, Division of Interventional Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Vasc Interv Radiol 20:1287-91. 2009..The present report describes results from this center on an intent-to-treat basis...
- "Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) ResultsSarah A Walser
Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
J Genet Couns 25:1116-26. 2016..A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making. ..
- Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing ResultsAllison Werner-Lin
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Qual Health Res 26:1975-1987. 2016..Families pursuing highly sensitive prenatal testing may need expert guidance to support decision making...
- Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North AmericaMelanie Baxter
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Genet Med . 2016..This study aimed to identify factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT)...
- Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasiaEmile R Mohler
Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, USA
Genet Med 11:356-8. 2009..We describe a novel approach for detecting vascular abnormalities deep in the digits by means of a handheld illuminator...
- Adolescents' transition to self-management of a chronic genetic disorderEllen Giarelli
University of Pennsylvania School of Nursing, Biobehavioral Research Center, Philadelphia, Pennsylvania 19104, USA
Qual Health Res 18:441-57. 2008..Transition to self-management is part of an evolving model of participation in life-long surveillance...
- Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapyWoojin Kim
Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, USA
Am J Med Genet A 143:377-81. 2007..Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease...
- The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephalyKrista Redlinger-Grosse
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet 112:369-78. 2002..The results also provide the groundwork for prospective investigation into parents' decision-making process as they receive and adjust to prenatal diagnoses of an abnormality...
- Mapping the human genome: an assessment of media coverage and public reactionEllen S Tambor
Department of Health Policy and Management, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
Genet Med 4:31-6. 2002..To assess public reactions to the June 26, 2000, announcement that scientists had nearly finished mapping the human genome...