Papers by Judith Benkendorf
Birth defects original article series
Reproductive Toxicology
1825 190900-190940 AUTOSOMAL CATALOG the gene encoding the blue-sensitive opsin segregation analy... more 1825 190900-190940 AUTOSOMAL CATALOG the gene encoding the blue-sensitive opsin segregation analysis within pedigrees and analysis of DNA samples from control subjects strongly indicated that these mutations cause tritanopia. These results completed the ...
Reproductive Toxicology, 1991
Genetics in Medicine, 2014
Journal of genetic counseling, 2002
Prenatal genetic counseling involves an exchange of information between counselors and clients, i... more Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis sug...
Journal of genetic counseling, 2002
It began in Baltimore, in October 1997, when we were awarded the Jane Engelberg Memorial Fellowsh... more It began in Baltimore, in October 1997, when we were awarded the Jane Engelberg Memorial Fellowship to examine whether our genetic counseling conversations were truly enacting the principles of the profession. Working with colleagues in Georgetown University's Department of Linguistics, we planned to apply sociolinguistic discourse analysis to audiotapes of our genetic counseling sessions. Our original intent was for this research to unlock new mechanisms for understanding and teaching the art of counseling. What we did not realize at that exhilarating moment in Baltimore was that this project would transform us personally and professionally, and affect our careers for years thereafter.
The American Journal of Human Genetics
Birth defects original article series
The Journal of clinical ethics
Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine
The purpose of this retrospective study was to evaluate the utility of routine measurement of amn... more The purpose of this retrospective study was to evaluate the utility of routine measurement of amniotic fluid alpha-fetoprotein levels at the time of second trimester genetic amniocentesis (mean gestational age, 17.3 weeks +/- 2.5 weeks standard deviation; median, 16.8 weeks; range, 15 to 22 weeks). During the study period 7174 patients underwent second trimester genetic amniocentesis. Outcome data were available in all cases. In 79 (1.1%) cases the amniotic fluid alpha-fetoprotein level was > or = 2.0 multiples of the median. Thirty-three of the 79 (42%) patients had normal ultrasonograms, and in 31 of 33 (94%) the amniotic fluid alpha-fetoprotein level was between 2.0 and 3.0 multiples of the median. Forty-six of the 79 (58%) patients had abnormal ultrasonographic findings, and of these, 82% were neural tube defects, abdominal wall defects, or cystic hygromas. Acetylcholinesterase was positive in 37 cases, all of which had abnormal ultrasonographic findings. None of the fetuses with negative findings on sonographic screening had detectable abnormalities at birth. In this study, with over 7000 patients, amniotic fluid alpha-fetoprotein and acetylcholinesterase levels did not increase the detection of fetal abnormalities. On the basis of these results, routine measurement of amniotic fluid alpha-fetoprotein level at the time of routine genetic amniocentesis (15 to 22 weeks) does not appear justified.
Cancer Epidemiology Biomarkers & Prevention
We conducted a randomized trial to investigate racial differences in response to two alternate pr... more We conducted a randomized trial to investigate racial differences in response to two alternate pretest education strategies for BRCA1 genetic testing: a standard education model and an education plus counseling (E + C) model. Two hundred twenty-eight Caucasian women and 70 African American women with a family history of breast or ovarian cancer were contacted for a baseline telephone interview to assess sociodemographic characteristics, number of relatives affected with cancer, and race before pretest education. Outcome variables included changes from baseline to 1-month follow-up in cancer-related distress and genetic testing intentions, as well as provision of a blood sample after the education session. African American women were found to differ significantly from Caucasian women in the effects of the interventions on testing intentions and provision of a blood sample. Specifically, in African American women, E + C led to greater increases than education only in intentions to be ...
Genetics in medicine: official journal of the American College of Medical Genetics
Purpose:The aim of this study was to survey American College of Medical Genetics and Genomics mem... more Purpose:The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing.Methods:A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics.Results:The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with "best practice" items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient prefe...
American journal of human genetics, 1992
The Journal of reproductive medicine, 1995
DNA probes specific for whole chromosomes or portions of chromosomes can provide important inform... more DNA probes specific for whole chromosomes or portions of chromosomes can provide important information to aid the clinician in managing pregnancy and the geneticist in relaying accurate recurrence risk information to the patient. In this case, sonography was ordered because of a low fundal height in a 29-year-old primigravida at 35 weeks' gestational age; it revealed major fetal anomalies. A small supernumerary marker was seen in some cultured amniocytes. Metaphase spreads were analyzed by means of fluorescence in situ hybridization using a centromere probe specific for chromosome 22 and a whole chromosome probe for the 11 chromosome. In situ hybridization showed that the marker chromosome was a derivative of chromosome 22 with 11q material attached near the centromere. The fetal karyotype was 47,XY,+der(22) t(11;22)(q23.3;q11.2)mat. The mother was later found to be a balanced translocation carrier. It was possible to offer rapid prenatal diagnosis for this family using interpha...
American journal of human genetics, 1989
Clinical Pediatrics, 2014
Objectives. To evaluate care processes for infants who are identified by newborn screening (NBS) ... more Objectives. To evaluate care processes for infants who are identified by newborn screening (NBS) and diagnosed with metabolic disorders during their first year of life. Methods. A survey instrument was used to assess the scope and intensity of services needed to provide quality health care for patients from birth to 1 year of age who have a metabolic disorder identified by NBS. Significance testing was not performed; descriptive analyses are reported. Results. Providers spend significant amounts of time on activities that are not direct patient care. The most challenging aspect of their work was the lack of reimbursement for care. Conclusion. Provision of genetics services for patients with a metabolic disorder is time and labor intensive, and insurance coverage and reimbursement for these services remain inadequate. Health care payment and/or system reform is necessary to provide optimal care to patients with metabolic disorders identified by NBS.
Patient Education and Counseling, 1997
Informed consent for BRCA1 mutation testing will require adequate knowledge of patterns of inheri... more Informed consent for BRCA1 mutation testing will require adequate knowledge of patterns of inheritance of cancer and the benefits, limitations, and risks of DNA testing. This study examined knowledge about the inheritance of breast cancer and attitudes about genetic testing for ...
Preventive Medicine, 1999
Little is known about the perception of bilateral prophylactic mastectomy (BPM), and whether perc... more Little is known about the perception of bilateral prophylactic mastectomy (BPM), and whether perceptions are influenced by a family history of breast cancer. It is also unclear what factors may play a role in selecting BPM for follow-up care. Samples of predominantly Caucasian, well-educated women with (n = 129) and without (n = 104) family histories of breast cancer were provided a vignette of a woman at increased risk. They selected one of two follow-up options: (1) clinical breast examination, breast self exam, and annual mammography or (2) BPM. The samples did not differ on the decision to select BPM (29.5% vs 22.1%). The family history sample reported worry about breast cancer as a problem (34.4%) more often than women with no history (15.7%). Multivariate analysis found worry and estimated 10-year risk of the woman in the vignette as significant predictors of selecting BPM. Approximately 25% of our sample selected BPM as the preferred option. The majority supported the need to discuss BPM among women at increased risk. Finally, both factors associated with the selection of BPM (worry, risk assessment) are potentially amenable to psychosocial or educational approaches. There is a clear need for assessment of worry and risk perception prior to surgical decision making.
Genetics in Medicine, 2014
JNCI Journal of the National Cancer Institute, 1997
Background: In response to the isolation of the BRCA1 gene, a breast-ovarian cancer-susceptibilit... more Background: In response to the isolation of the BRCA1 gene, a breast-ovarian cancer-susceptibility gene, biotechnology companies are already marketing genetic tests to health care providers and to the public. Initial studies indicate interest in BRCA1 testing in the general public and in populations at high risk. However, the optimal strategies for educating and counseling individuals have yet to be determined. Purpose: Our goal was to evaluate the impact of alternate strategies for pretest education and counseling on decision-making regarding BRCA1 testing among women at low to moderate risk who have a family history of breast and/or ovarian cancer. Methods: A randomized trial design was used to evaluate the effects of education only (educational approach) and education plus counseling (counseling approach), as compared with a waiting-list (control) condition (n = 400 for all groups combined). The educational approach reviewed information about personal risk factors, inheritance of cancer susceptibility, the benefits, limitations, and risks of BRCA1 testing, and cancer screening and prevention options. The counseling approach included this information, as well as a personalized discussion of experiences with cancer in the family and the potential psychological and social impact of testing. Data on knowledge of inherited cancer and BRCA1 test characteristics, perceived risk, perceived benefits, limitations and risks of BRCA1 testing, and testing intentions were collected by use of structured telephone interviews at baseline and at 1-month follow-up. Provision of a blood sample for future testing served as a proxy measure of intention to be tested (in the education and counseling arms of the study). The effects of intervention group on study outcomes were evaluated by use of hierarchical linear regression modeling and logistic regression modeling (for the blood sample outcome). All P values are for two-sided tests. Results: The educational and counseling approaches both led to significant increases in knowledge, relative to the control condition (P<.001 for both). The counseling approach, but not the educational approach, was superior to the control condition in producing significant increases in perceived limitations and risks of BRCA1 testing (P<.01) and decreases in perceived benefits (P<.05). However, neither approach produced changes in intentions to have BRCA1 testing. Prior to and following both education only and education plus counseling, approximately one half of the participants stated that they intended to be tested; after the session, 52% provided a blood sample. Conclusions: Standard educational approaches may be equally effective as expanded counseling approaches in enhancing knowledge. Since knowledge is a key aspect of medical decision-making, standard education may be adequate in situations where genetic testing must be streamlined. On the other hand, it has been argued that optimal decision-making requires not only knowledge, but also a reasoned evaluation of the positive and negative consequences of alternate decisions. Although the counseling approach is more likely to achieve this goal, it may not diminish interest in testing, even among women at low to moderate risk. Future research should focus on the merits of these alternate approaches for subgroups of individuals with different backgrounds who are being counseled in the variety of settings where BRCA1 testing is likely to be offered
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Papers by Judith Benkendorf