Publications by authors named "Lisa Kessler"

30 Publications

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Visual attention during pediatric resuscitation with feedback devices: a randomized simulation study.

Pediatr Res 2022 06 21;91(7):1762-1768. Epub 2021 Jul 21.

Divison of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

Background: The aim of this study was to investigate the effect of feedback devices on visual attention and the quality of pediatric resuscitation.

Methods: This was a randomized cross-over simulation study at the Medical University of Vienna. Participants were students and neonatal providers performing four resuscitation scenarios with the support of feedback devices randomized. The primary outcome was the quality of resuscitation. Secondary outcomes were total dwell time (=total duration of visit time) on areas of interest and the workload of participants.

Results: Forty participants were analyzed. Overall, chest compression (P < 0.001) and ventilation quality were significantly better (P = 0.002) when using a feedback device. Dwell time on the feedback device was 40.1% in the ventilation feedback condition and 48.7% in the chest compression feedback condition. In both conditions, participants significantly reduced attention from the infant's chest and mask (72.9 vs. 32.6% and 21.9 vs. 12.7%). Participants' subjective workload increased by 3.5% (P = 0.018) and 8% (P < 0.001) when provided with feedback during a 3-min chest compression and ventilation scenario, respectively.

Conclusions: The quality of pediatric resuscitation significantly improved when using real-time feedback. However, attention shifted from the manikin and other equipment to the feedback device and subjective workload increased, respectively.

Impact: Cardiopulmonary resuscitation with feedback devices results in a higher quality of resuscitation and has the potential to lead to a better outcome for patients. Feedback devices consume attention from resuscitation providers. Feedback devices were associated with a shift of visual attention to the feedback devices and an increased workload of participants. Increased workload for providers and benefits for resuscitation quality need to be balanced for the best effect.
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http://dx.doi.org/10.1038/s41390-021-01653-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270220PMC
June 2022

Co-creating a Legal Check-up in a School-based Health Center Serving Low-income Adolescents.

Prog Community Health Partnersh 2021 ;15(2):203-216

The Problem: Marginalized populations experience health-harming legal needs-barriers to good health that require legal advocacy to overcome. Medical-legal partnerships (MLPs) embed lawyers into the healthcare team to resolve these issues, but identifying patients with health-harming legal needs is complex, and screening practices vary across MLPs.Purpose of Article: Academic and community partners who collaborate in an MLP at a school-based health center (SBHC) share their process of co-creating a two-stage legal check-up for adolescents.

Key Points: Screening adolescents for health-harming legal needs is challenging. It took ongoing collaboration to refine the process to fit the needs of adolescents and meet the partners' goals.

Conclusion: Social determinants of health play a significant role in health disparities, and there is a need for innovative solutions to screen and address these in vulnerable populations. Other partners can learn from our experiences to co-create their own approach to addressing health-harming legal needs.
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http://dx.doi.org/10.1353/cpr.2021.0022DOI Listing
October 2021

An Interprofessional Approach to Teaching Advocacy Skills: Lessons from an Academic Medical-Legal Partnership.

J Leg Med 2020 Apr-Jun;40(2):265-278

Medical students and educators recognize that preparing the next generation of health leaders to address seemingly intractable problems like health disparities should include advocacy training. Opportunities to acquire the knowledge and skills needed to effectively advocate at the policy level to promote systems-, community-, and population-level solutions are a critical component of such training. But formal advocacy training programs that develop and measure such skills are scarce. Even less common are interprofessional advocacy training programs that include legal and policy experts to help medical students learn such skills. This 2016-2017 pilot study started with a legislative advocacy training program for preclinical medical students that was designed to prepare them to meet with Capitol Hill representatives about a health justice issue. The pilot assessed the impact of adding an interprofessional education (IPE) dimension to the program, which in this case involved engaging law faculty and students to help the medical students understand and navigate the federal legislative process and prepare for their meetings. Results from the pilot suggest that adding law and policy experts to advocacy-focused training programs can improve medical students' advocacy knowledge and skills and increase their professional identity as advocates.
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http://dx.doi.org/10.1080/01947648.2020.1819485DOI Listing
July 2021

Characterizing standardized patients and genetic counseling graduate education.

J Genet Couns 2021 Apr 6;30(2):493-502. Epub 2020 Oct 6.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation. The purpose of the current project was to determine the scope, frequency, and timing of SP methodology in ACGC-accredited programs to establish baseline usage, which happened prior to the SARS-CoV-2 pandemic. A 40-item investigator-created survey was developed to document the scope and frequency of SP use among programs. The survey was distributed through the Association of Genetic Counseling Program Directors' (AGCPD) listserv to 43 accredited and 6 programs under development. Surveys were analyzed from 25 accredited programs (response rate = 58%). Seventeen of these programs report inclusion of SP methodology in the curricula (68%), of which 13 report working with an established SP program. SPs are used predominantly for role-plays (70.6%), individualized instruction and remediation (29.4%), and for other reasons such as lecture demonstration, final examinations, practicing skills, and assessing students' goals. Sixteen of the participating programs use SPs to give GC students experience disclosing positive test results. Other details vary among the GC programs including the use of trained SPs, volunteer or paid SPs, actors with and without SP training, or GC students acting as patients. This study demonstrates that GC program SP experiences differ, but are largely viewed as valuable by the programs. Many GC programs report using SP encounters to create multiple opportunities for students to practice and refine clinical skills similar to SPs in medical school.
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http://dx.doi.org/10.1002/jgc4.1335DOI Listing
April 2021

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Sci Rep 2020 08 11;10(1):13518. Epub 2020 Aug 11.

Cancer Prevention and Control Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111-2497, USA.

Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs in DNA damage response and repair (DDRR) genes are enriched in eoRC patients undergoing cancer risk assessment. Retrospective review of de-identified results from 844 eoRC patients, undergoing testing with a multi-gene panel, for a variety of indications, by Ambry Genetics. PVs in cancer-risk genes were identified in 12.8% of patients-with 3.7% in RC-specific, and 8.55% in DDRR genes. DDRR gene PVs were most commonly identified in CHEK2, BRCA1, BRCA2, and ATM. Among the 2.1% of patients with a BRCA1 or BRCA2 PV, < 50% reported a personal history of hereditary breast or ovarian-associated cancer. No association between age of RC diagnosis and prevalence of PVs in RC-specific or DDRR genes was observed. Additionally, 57.9% patients reported at least one additional cancer; breast cancer being the most common (40.1% of females, 2.5% of males). Multi-gene testing including DDRR genes may provide a more comprehensive risk assessment in eoRC patients. Further validation is needed to characterize the association with eoRC.
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http://dx.doi.org/10.1038/s41598-020-70449-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419503PMC
August 2020

It's not wrong, it's just different.

J Genet Couns 2020 04 28;29(2):324-328. Epub 2020 Feb 28.

R.J. Love & Associates, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/jgc4.1235DOI Listing
April 2020

Temporal patterns in ecosystem services research: A review and three recommendations.

Ambio 2020 Aug 27;49(8):1377-1393. Epub 2019 Nov 27.

Centre for Environmental and Climate Research, Lund University, 22362, Lund, Sweden.

Temporal aspects of ecosystem services have gained surprisingly little attention given that ecosystem service flows are not static but change over time. We present the first systematic review to describe and establish how studies have assessed temporal patterns in supply and demand of ecosystem services. 295 studies, 2% of all studies engaging with the ecosystem service concept, considered changes in ecosystem services over time. Changes were mainly characterised as monotonic and linear (81%), rather than non-linear or through system shocks. Further, a lack of focus of changing ecosystem service demand (rather than supply) hampers our understanding of the temporal patterns of ecosystem services provision and use. Future studies on changes in ecosystem services over time should (1) more explicitly study temporal patterns, (2) analyse trade-offs and synergies between services over time, and (3) integrate changes in supply and demand and involve and empower stakeholders in temporal ecosystem services research.
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http://dx.doi.org/10.1007/s13280-019-01292-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239989PMC
August 2020

Utilization of the Tablet Application Proband in Pedigree Construction and Assessment.

J Genet Couns 2018 04 25;27(2):406-415. Epub 2018 Jan 25.

Genetic Counseling Program, College of Health Sciences, University of Arcadia, Glenside, PA, USA.

Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual's health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523-32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children's Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.
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http://dx.doi.org/10.1007/s10897-017-0197-1DOI Listing
April 2018

The Effects of Multi-Day vs. Single Pre-exercise Nitrate Supplement Dosing on Simulated Cycling Time Trial Performance and Skeletal Muscle Oxygenation.

J Strength Cond Res 2019 Jan;33(1):217-224

Human Performance Research Laboratory, Department of Kinesiology and Health Promotion, California State Polytechnic University, Pomona, Pomona, California.

Jo, E, Fischer, M, Auslander, AT, Beigarten, A, Daggy, B, Hansen, K, Kessler, L, Osmond, A, Wang, H, and Wes, R. The effects of multiday vs. single pre-exercise nitrate supplement dosing on simulated cycling time trial performance and skeletal muscle oxygenation. J Strength Cond Res 33(1): 217-224, 2019-A transient augmentation in the metabolic efficiency of skeletal muscle is the purported basis for dietary nitrate supplementation amongst competitive and recreational athletes alike. Previous studies support the ergogenic effects of nitrate supplementation, as findings indicated improved microvascular blood flow, exercise economy, and performance with relatively short-term supplementation. As with most ergogenic aids, the optimum duration of supplementation before performance or competition, i.e., loading phase, is a critical determinant for efficacy. Therefore, the purpose of this study was to investigate the effects of long-term vs. single dosing nitrate supplementation on skeletal muscle oxygenation and cycling performance. In a randomized, placebo controlled, double blind, parallel design study, healthy, recreationally active men (n = 15) and women (n = 14) subjects (age = 18-29 years) completed an 8 km (5 mi) simulated cycling time trial before and after a 14-day supplementation period with either a nitrate supplement (Multi-Day Dosing Group) (n = 14) or placebo (Single Pre-Exercise Dosing Group; SD) (n = 15). Both groups consumed a single dose of the nitrate supplement 2 hours before the post-treatment time trial. In addition, skeletal muscle oxygenation was measured via near-infrared spectroscopy during each time trial. Multiday nitrate supplementation significantly decreased time to completion (p = 0.01) and increased average power (p = 0.04) and speed (p = 0.02) from pre-to post-treatment, while a single dosing produced no significant changes to these measures. There were no significant differences over time and across treatments for any other measures including muscle oxygenation variables. Overall, long-term nitrate supplementation appears to have an advantage over a single pre-exercise dosing on cycling performance and metabolic efficiency as indicated by an increase in power output with no change in oxygenation.
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http://dx.doi.org/10.1519/JSC.0000000000001958DOI Listing
January 2019

Evolution of leaf anatomy in arid environments - A case study in southern African Tetraena and Roepera (Zygophyllaceae).

Mol Phylogenet Evol 2016 Apr 11;97:129-144. Epub 2016 Jan 11.

Institut für Allgemeine und Spezielle Botanik, Johannes Gutenberg-Universität Mainz, 55099 Mainz, Germany.

The dry biomes of southern Africa (Desert, Nama Karoo and Succulent Karoo) are home to a rich and diverse xerophytic flora. This flora includes two morphologically diverse clades of Zygophyllaceae, Tetraena and Roepera (Zygophylloideae), which inhabit some of the most arid habitats in the region. Using a plastid phylogeny of Zygophylloideae we assess whether the evolution of putatively adaptive traits (leaf shape, vasculature, mode of water storage and photosynthetic type: C3 versus C4) coincides with the successful colonisation of environments with different drought regimes within southern Africa. Our results show general niche conservatism within arid habitats in Tetraena, but niche shifts from arid to more mesic biomes with longer and/or cooler growing season (Fynbos and Thicket) in Roepera. However, these distinct broad-scale biogeographical patterns are not reflected in leaf anatomy, which seems to vary at more local scales. We observed considerable variability and multiple convergences to similar leaf anatomies in both genera, including shifts between "all cell succulence" leaf types and leaf types with distinct chlorenchyma and hydrenchyma. Our survey of C4 photosynthesis in the Zygophylloideae showed that the C4 pathway is restricted to Tetraena simplex, which also having an annual life history and a widespread distribution, is rather atypical for this group.
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http://dx.doi.org/10.1016/j.ympev.2016.01.002DOI Listing
April 2016

An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.

J Genet Couns 2014 Aug 27;23(4):618-32. Epub 2014 Feb 27.

Genetic Counseling Program, Arcadia University, 450 S Easton Rd, Glenside, PA, 19038, USA,

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.
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http://dx.doi.org/10.1007/s10897-014-9692-9DOI Listing
August 2014

Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.

Breast J 2013 Mar-Apr;19(2):189-92. Epub 2013 Jan 16.

Division of Population Sciences, Moffitt Cancer Center, Tampa, Florida 33612, USA.

Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a sample of Black women with early onset breast cancer, we evaluated BRCA mutations and explored personal and system-level clinical characteristics. Black women diagnosed with invasive breast cancer (age ≤50) were recruited through the state cancer registry. Participants completed a questionnaire, genetic counseling and BRCA testing. Of the 48 women who consented to study participation, 46 provided a usable biologic specimen for BRCA testing. The overall prevalence of BRCA mutations and variants of uncertain significance (VUS) in participants was 6.5% and 34.8%, respectively. Of these, only 14 were referred for genetic counseling prior to study enrollment. Overall, those participants who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancer (p = 0.024) and a higher household income (p = 0.009). BRCA mutation prevalence and the high prevalence of VUS in participants are consistent with prior studies. Furthermore, clinical factors such as family history and financial means may influence type of surgery recommended and chosen, at both the provider and patient level, respectively. Finally, the limited number of patients referred for genetic counseling prior to surgical treatment for breast cancer may represent a missed clinical opportunity to inform surgical decisions.
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http://dx.doi.org/10.1111/tbj.12083DOI Listing
September 2013

Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference?

J Genet Couns 2012 Oct 12;21(5):676-83. Epub 2012 Jul 12.

Center for Community-Based Research and Health Disparities, Department of Psychiatry, University of Pennsylvania, Philadelphia, 19104, USA.

Low rates of genetic counseling among African American women have generated concerns about disparities; however, to the extent that women's decisions to accept or decline counseling are consistent with their values, then lower participation may reflect preferences and not disparities. We evaluated the extent to which women were satisfied with their decision about participating in genetic counseling for BRCA1/2 mutations and identified variables that were associated significantly with satisfaction. Prospective study of decision satisfaction with 135 African American women who had a minimum 5% prior probability of having a BRCA1/2 mutation. Decision satisfaction was evaluated one month after women were offered participation in genetic counseling using a structured questionnaire. Women were satisfied with their participation decision; more than 80% reported that their decision was consistent with their family values. However, women who declined pre-test counseling had significantly lower satisfaction scores. Our findings highlight the importance ensuring that racial differences that are due to preferences and values are not misclassified as disparities in order to identify and address the root causes of disparate treatment.
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http://dx.doi.org/10.1007/s10897-012-9485-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773724PMC
October 2012

Utilization of religious coping strategies among African American women at increased risk for hereditary breast and ovarian cancer.

Fam Community Health 2009 Jul-Sep;32(3):218-27

Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.

This observational study evaluated utilization of religious coping strategies among 95 African American women who were at increased risk for having a BRCA1/BRCA2 (BRCA1/2) mutation. Overall, women reported high levels of collaborative coping; however, women with fewer than 2 affected relatives (beta = -1.97, P = 0.04) and those who had a lower perceived risk of having a BRCA1/2 mutation (beta = -2.72, P = 0.01) reported significantly greater collaborative coping. These results suggest that African American women may be likely to use collaborative strategies to cope with cancer-related stressors. It may be important to discuss utilization of religious coping efforts during genetic counseling with African American women.
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http://dx.doi.org/10.1097/FCH.0b013e3181ab3b53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155033PMC
September 2009

BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer.

Community Genet 2008 14;11(4):193-200. Epub 2008 Apr 14.

Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.

Objectives: To describe BRCA1 or BRCA2 (BRCA1/2) risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer and to identify factors having independent associations with these perceptions.

Methods: Risk perceptions were evaluated by self-report during a structured telephone interview among African American women (n = 162) at increased risk for hereditary cancer who were recruited from oncology clinics, general medical practices, and community oncology resources.

Results: The majority of women (75%) believed that it was likely that they had a BRCA1/2 mutation. Women ages 50 and younger and those with greater cancer-specific worry were most likely to believe that they had a BRCA1/2 mutation.

Conclusions: Although BRCA1/2 risk perceptions may be consistent with objective risk levels among African American women, discussion about the basis of risk perceptions may enhance provision of genetic counseling and testing in this population.
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http://dx.doi.org/10.1159/000116879DOI Listing
May 2008

Retention of African American women in cancer genetics research.

Am J Med Genet A 2008 Jan;146A(2):166-73

Department of Psychiatry, Abramson Cancer Center, and the Leonard Davis Institute of Health Economics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

Although retention is a critical component of longitudinal cancer genetics research, limited empirical data are available on predictors of study retention among populations that are difficult to enroll. We evaluated predictors of retention in cancer genetics research among African American women at increased risk for having a BRCA1 and BRCA2 (BRCA1/2) mutation. Participants were African American women (n = 192) at increased risk for hereditary breast-ovarian cancer who were enrolled in a longitudinal genetic counseling research study. Retention was evaluated separately for the 1- and 6-month follow-ups and in terms of overall retention (e.g., completion of both telephone interviews). Seventy-three percent of women and 65% of women were retained at the 1- and 6-month follow-ups respectively; in terms of overall retention, 60% of women were retained in both follow-up telephone interviews. Predictors of retention at 1-month included being employed (OR = 2.47, 95% CI = 1.24, 4.93, P = 0.01) whereas predictors of overall retention included having a personal history of breast and/or ovarian cancer (OR = 2.06, 95% CI = 1.07, 3.95, P = 0.03) and having completed genetic counseling (OR = 2.63, 95% CI = 1.39, 4.98, P = 0.003). These data suggest that once enrolled in genetic counseling research, the majority of African American women will continue to participate, especially if concrete clinical services are provided.
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http://dx.doi.org/10.1002/ajmg.a.32067DOI Listing
January 2008

Knowledge about genetics among African Americans.

J Genet Couns 2007 Apr;16(2):191-200

Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.

Although knowledge about genetic concepts is important for individuals to be active participants in medical technologies that use genetic science, limited information is available on knowledge about basic genetic concepts and terminology in African Americans. The purpose of this study was to evaluate knowledge about general genetic concepts and medical genetics terminology among African Americans and to identify factors having independent associations with knowledge. Participants were 109 adult African Americans enrolled in a study on attitudes about race, genetics, and smoking. The majority of respondents were knowledgeable about general genetic concepts, but were less knowledgeable about medical genetics terminology. Education was the only factor independently associated with knowledge about sporadic disorders in multivariate logistic regression analysis. Respondents with at least some college education were most likely to be knowledgeable about sporadic disorders (OR=2.70, 95% CI=1.10, 6.67, p=.03). The results of this study suggest that genetics education targeted to African Americans may need to focus on increasing understanding about technical concepts related to genetics.
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http://dx.doi.org/10.1007/s10897-006-9054-3DOI Listing
April 2007

Sociocultural predictors of breast cancer risk perceptions in African American breast cancer survivors.

Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):244-8

Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

Although African American breast cancer survivors are at increased risk for developing breast cancer again, empirical data are not available on breast cancer risk perceptions in these women. This study characterized perceived risk of developing breast cancer in African American breast cancer survivors at risk for having a BRCA1 or BRCA1 (BRCA1/2) mutation and identified factors having significant independent associations with risk perceptions. Participants were 95 African American breast cancer survivors at an increased risk for having a BRCA1/2 mutation. Risk perceptions and sociodemographic, clinical, treatment, and sociocultural factors were collected during a structured telephone interview. Most women reported that they had the same or lower risk of developing breast cancer again compared with other women (53%); however, a substantial minority of women (47%) reported that they had a higher or much higher risk. Factors having significant independent associations with heightened risk perceptions included having a >or=10% prior probability of having a BRCA1/2 mutation [odds ratio (OR), 2.91; 95% confidence interval (95% CI), 1.09-7.72; P = 0.03] and more years of formal education (OR, 2.74; 95% CI, 1.02-7.36; P = 0.05). In addition, women who thought about the past a lot were three times more likely to report heightened risk perceptions compared with those who did not think about the past a lot (OR, 3.72; 95% CI, 1.45-9.57; P = 0.01). These results suggest that it may be important to ensure adequate risk comprehension among African American women as part of genetic counseling for inherited breast-ovarian cancer risk. Discussion of risk perceptions within the context of existing beliefs and values may facilitate this process.
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http://dx.doi.org/10.1158/1055-9965.EPI-06-0481DOI Listing
February 2007

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.

J Med Genet 2007 Jan;44(1):e61

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, and is inherited in an autosomal dominant pattern. Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut).

Aim: To characterise two patients with NF1 and GISTs.

Methods: Two patients were genotyped for germline mutations in NF1. GISTs from both patients were genotyped for somatic mutations in KIT and PDGFRA. Loss of heterozygosity (LOH) of NF1 in one GIST was assessed by genotyping seven microsatellite markers spanning 2.39 Mb of the NF1 locus in the tumour and in genomic DNA. The known germline mutation in NF1 was confirmed in GIST DNA by sequencing. The copy number of the mutated NF1 allele was determined by multiplex ligand-dependent probe amplification.

Results: GISTs from both patients were of wild type for mutations in KIT and PDGFRA. In the GIST with adequate DNA, all seven markers were informative and showed LOH at the NF1 locus; sequencing of NF1 from that GIST showed no wild-type sequence, suggesting that it was lost in the tumour. Multiplex ligand-dependent probe amplification analysis showed that two copies of all NF1 exons were present.

Conclusions: This is the first evidence of mitotic recombination resulting in a reduction to homozygosity of a germline NF1 mutation in an NF1-associated GIST. We hypothesise that the LOH of NF1 and lack of KIT and PDGFRA mutations are evidence of an alternative pathogenesis in NF1-associated GISTs.
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http://dx.doi.org/10.1136/jmg.2006.043075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597901PMC
January 2007

Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer.

Genet Med 2006 Sep;8(9):576-82

Department of Psychiatry, Abramson Cancer Center, and Leonard Davis Institute of Health Economics, University of Pennsylvania, 3535 Market Street, Philadelphia, PA 19104, USA.

Purpose: This study evaluated rates of BRCA1 and BRCA2 (BRCA1/2) test result acceptance among African American women and identified determinants of test result acceptance.

Methods: Acceptance of BRCA1/2 test results was evaluated among 157 African American women at high and moderate risk for having a BRCA1/2 mutation who were offered genetic testing as part of a clinical genetic counseling research program.

Results: Twenty-two percent of women received BRCA1/2 test results. Test result acceptance differed between women with > or =10% prior probability of having a BRCA1/2 mutation (34%) and those who had a 5% prior probability (8%). Among women with > or =10% prior probability, test result acceptors were most likely to be married (OR = 5.29, 95% CI = 1.82, 15.38, P = 0.002) and be less certain about their risk of developing cancer (OR = 3.18, 95% CI = 1.04, 9.80, P = 0.04).

Conclusion: These results demonstrate that acceptance of BRCA1/2 test results may be limited among African American women. Being married and having less certainty about one's cancer risk may motivate acceptance of BRCA1/2 test results among African American women. It may be important to emphasize the possibility that BRCA1/2 test results may not clarify cancer risks during pre-test counseling with African American women to ensure informed decision-making about testing.
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http://dx.doi.org/10.1097/01.gim.0000237719.37908.54DOI Listing
September 2006

Breast cancer screening behaviors among African American women with a strong family history of breast cancer.

Prev Med 2006 Nov 24;43(5):385-8. Epub 2006 Jul 24.

Department of Psychiatry and Abramson Cancer Center, University of Pennsylvania, 3535 Market Street, Suite 4100, Philadelphia, PA, 19104, USA.

Background: Despite the importance of breast cancer screening to reduce morbidity and mortality, limited information is available on screening practices among African American women with a family history that is suggestive of hereditary breast cancer.

Objectives: To describe adherence to breast cancer screening recommendations among African American women with a family history that is suggestive of hereditary disease.

Methods: Participants were unaffected African American women (n=65) who had a family history of cancer that was suggestive of hereditary breast cancer. Breast cancer screening practices were evaluated by self-report. The study was conducted at the University of Pennsylvania in Philadelphia, PA. Women were recruited to participate in the study from February 2003-December 2005.

Results: Most women were adherent to recommendations for mammography (75%) and CBE (93%). A sizeable minority of women (41%) also performed excessive BSE. Being older than age 50 was associated significantly with mammography adherence (FET<0.05). Employment had a significant independent association with BSE; unemployed women were most likely to perform excessive BSE (OR=3.28, 95% CI: 1.05, 10.21, p<0.05).

Conclusions: The results of this study suggest a complex pattern of breast cancer screening practices among African American women at increased risk for hereditary breast cancer.
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http://dx.doi.org/10.1016/j.ypmed.2006.06.003DOI Listing
November 2006

Satisfaction with genetic counseling for BRCA1 and BRCA2 mutations among African American women.

Patient Educ Couns 2006 Oct 14;63(1-2):196-204. Epub 2006 Mar 14.

Genetic Counseling Training Program, Arcadia University, Glenside, PA, United States.

Objective: The objective of this study was to evaluate satisfaction with genetic counseling for BRCA1 and BRCA2 (BRCA1/2) mutations among African American women.

Methods: Participants were 54 African American women at moderate and high risk for BRCA1/2 mutations who were offered genetic testing as part of a randomized clinical trial designed to compare the effects of culturally tailored genetic counseling (CTGC) and standard genetic counseling (SGC). Satisfaction with genetic counseling was evaluated using a self-administered questionnaire following culturally tailored or standard pre-test education and counseling.

Results: Overall, the majority of women (96%) were very satisfied with genetic counseling; however, only 26% reported that their worries were lessened and 22% reported that they were able to cope better. Women who received CTGC were significantly more likely than women who received SGC to report that their worries were lessened (p<0.05). In addition, women with household incomes less than US$ 35,000 were significantly more likely to report that the counselor lessened their worries compared to women with higher incomes (p<0.05).

Conclusions: Most African American women were satisfied with genetic counseling; however, women who received culturally tailored genetic counseling were significantly more likely to strongly agree that their worries were lessened compared to women who received standard genetic counseling.

Practice Implications: Discussion of cultural beliefs and values during genetic counseling may be beneficial to African American women, especially those with low incomes.
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http://dx.doi.org/10.1016/j.pec.2005.10.007DOI Listing
October 2006

Recruiting African American women to participate in hereditary breast cancer research.

J Clin Oncol 2005 Nov;23(31):7967-73

Abramson Cancer Center, Department of Psychiatry, University of Pennsylvania, Philadelphia, 19104, USA.

Purpose: This study evaluated the process of recruiting African American women to participate in genetic counseling research for BRCA1 and BRCA2 (BRCA1/2) mutations with respect to referral, study enrollment, and participation in genetic counseling.

Patients And Methods: African American women (n = 783) were referred for study enrollment.

Results: Of 783 referrals, 164 (21%) women were eligible for enrollment. Eligible women were most likely to be referred from oncology clinics (44%) and were least likely to be referred from general medical practices (11%; chi(2) = 96.80; P = .0001). Overall, 62% of eligible women enrolled onto the study and 50% of enrollees completed genetic counseling. Women with a stronger family history of cancer (odds ratio [OR] = 3.18; 95% CI, 1.36 to 7.44; P = .01) and those referred from oncology clinics and community oncology resources (OR = 2.97; 95% CI, 1.34 to 6.58; P = .01) were most likely to enroll onto the study. Referral from oncology clinics was associated significantly with participation in genetic counseling (OR = 5.46; 95% CI, 1.44 to 20.60; P = .01).

Conclusion: Despite receiving a large number of referrals, only a small subset of women were eligible for enrollment. Oncology settings were the most effective at identifying eligible African American women and general medical practices were the least effective. Factors associated with enrollment included having a stronger family history of cancer and being referred from oncology clinics and community oncology resources. Referral from oncology clinics was the only factor associated significantly with participation in genetic counseling. Education about hereditary breast cancer may be needed among primary care providers to enhance appropriate referral of African American women to genetic counseling for BRCA1/2 mutations.
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http://dx.doi.org/10.1200/JCO.2004.00.4952DOI Listing
November 2005

Genetic testing for inherited breast cancer risk in African Americans.

Cancer Invest 2005 ;23(4):285-95

Abramson Cancer Center and Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

As genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is increasingly integrated into the clinical management of high-risk women, it will be important to understand barriers and motivations for genetic counseling among women from underserved minority groups to ensure equitable access to these services. Therefore, the purpose of this review was to synthesize literature on knowledge and attitudes about genetic counseling and testing for inherited breast cancer risk in African Americans. We also review studies that evaluated genetic testing intentions in this population. We conducted a search of the PubMed database to identify studies related to BRCA1/2 testing in African Americans that were published between 1995 and 2003. Overall, studies have evaluated ethnic differences in knowledge and attitudes about genetic testing or have compared African American and Caucasian women in terms of genetic testing intentions. These studies have shown that knowledge about breast cancer genetics and exposure to information about the availability of testing is low among African Americans, whereas expectations about the benefits of genetic testing are endorsed highly. However, much less is known about the psychological and behavioral impact of genetic testing for BRCA1/2 mutations in African Americans. Additional research is needed to understand barriers and motivations for participating in genetic testing for inherited cancer risk in African Americans. The lack of studies on psychological functioning, cancer surveillance, and preventive behaviors following testing is a significant void; however, for these studies to be conducted, greater access to genetic counseling and testing in African Americans will be needed.
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http://dx.doi.org/10.1081/cnv-58819DOI Listing
September 2005

Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer.

Genet Med 2005 Apr;7(4):230-8

Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Purpose: To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer.

Methods: Attitudes and intentions were evaluated by telephone in African American women (n = 74) at moderate and high risk for having a BRCA1/2 mutation.

Results: Attitudes about the benefits of genetic testing were endorsed at a higher rate relative to limitations and risks; however, only 30% of respondents indicated that they would definitely have testing. In regression analysis, women most likely to be considering testing were those with fatalistic beliefs about cancer and those who believed they had a BRCA1/2 mutation. Women who had two or more affected relatives were also most likely to be considering testing. Women who had a personal history of cancer and those who believed they were at high risk for developing breast cancer were most likely to report greater limitations and risks. Pros scores were higher among women older than age 50 and those who were unemployed.

Conclusion: Although African American women at moderate and high risk for BRCA1/2 mutations report favorable attitudes about genetic testing, interest in testing may be limited. Women affected with cancer and those who believe they are at a higher risk for developing breast cancer may be most concerned about the negative consequences of testing. Increased attention may need to be given to beliefs about genetic testing and testing motivations during genetic counseling with African American women.
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http://dx.doi.org/10.1097/01.gim.0000159901.98315.feDOI Listing
April 2005

Decreased serum ferritin is associated with alopecia in women.

J Invest Dermatol 2003 Nov;121(5):985-8

Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

Alopecia in women is a common problem, and conflicting observational data have failed to determine whether an association exists between alopecia and iron deficiency in women. We therefore utilized an analytical cross-sectional methodology to evaluate whether common types of alopecia in women are associated with decreased tissue iron stores, as measured by serum ferritin. We studied patients with telogen effluvium (n = 30), androgenetic alopecia (n = 52), alopecia areata (n = 17), and alopecia areata totalis/universalis (n = 7). The normal group consisted of 11 subjects without hair loss from the same referral base and source population as those patients with alopecia. We analyzed the data utilizing the unpaired Student's t test assuming unequal variances with an alpha adjustment for multiple comparisons to assess whether the mean ages, ferritin levels, and hemoglobin levels of women without hair loss differed from the means in each alopecia group. The mean age of patients and normals did not differ significantly. We found that the mean ferritin level (ng per ml [95% confidence intervals]) in patients with androgenetic alopecia (37.3 128.4, 46.1]) and alopecia areata (24.9 [17.2, 32.6]) were statistically significantly lower than in normals without hair loss (59.5 [40.8, 78.1]). The mean ferritin levels in patients with telogen effluvium (50.1 [33.9, 66.33]) and alopecia areata totalis/universalis (52.3 [23.1, 81.5]) were not significantly lower than in normals. Our findings have implications regarding therapeutics, clinical trial design, and understanding the triggers for alopecia.
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http://dx.doi.org/10.1046/j.1523-1747.2003.12540.xDOI Listing
November 2003

Lactose digestion in pregnant African-Americans.

Public Health Nutr 2003 Dec;6(8):801-7

Department of Population and Family Health Sciences, Johns Hopkins Bloomberg School of Public Health, 624 North Broadway, Room 280, Baltimore, MD 21205, USA.

Objective: This paper reports on the status of lactose digestion during early and late pregnancy and at 8 weeks postpartum in an African-American population. The hypothesis is that lactose digestion and milk tolerance do not change throughout pregnancy and do not differ from those of non-pregnant African-American women.

Design And Subjects: This longitudinal study determined lactose digestion after ingesting 240 ml of 1% fat milk containing 12 g of lactose at: (1) early pregnancy, prior to 16 weeks (n=148); (2) late pregnancy, 30-35 weeks (n=77); and (3) 8 weeks postpartum (n=93). One hundred and one comparably matched non-pregnant African-American women served as controls.

Results: Prevalence of lactose digestion, as measured by breath hydrogen, was 80.2% in the control women, 66.2% in early pregnancy, 68.8% in late pregnancy and 75.3% postpartum. The prevalence of women reporting symptoms was approximately 20% regardless of lactose absorption status. However, the control women reported significantly more symptoms than did the pregnant women.

Conclusions: This study indicates that there is no significant change in lactose digestion during pregnancy. The prevalence of lactose intolerance for the pregnant African-American women studied is similar to that for non-pregnant African-American women and similar to previous prevalence reports in adult African-Americans. There was no change in the tolerance of lactose noted during pregnancy in these women. There were, however, fewer symptoms reported by the lactose-maldigesting pregnant women.
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http://dx.doi.org/10.1079/phn2003489DOI Listing
December 2003

Pheochromocytoma: the expanding genetic differential diagnosis.

J Natl Cancer Inst 2003 Aug;95(16):1196-204

Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.

Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system; pheochromocytomas are tumors of the adrenal medulla, and paragangliomas are extra-adrenal tumors arising from either the sympathetic nervous system or parasympathetic ganglia. It has previously been estimated that approximately 10%-15% of pheochromocytomas are due to hereditary causes. However, our increased understanding of the three hereditary syndromes (neurofibromatosis 1, multiple endocrine neoplasia type 2, and von Hippel-Lindau syndrome) in which pheochromocytoma is found and the recent discovery that mutations in genes in the succinate dehydrogenase family (SDHB and SDHD) predispose to pheochromocytoma have necessitated a re-evaluation of the genetic basis of pheochromocytoma. These studies indicate that the frequency of germline mutations associated with isolated pheochromocytoma is higher than previously estimated, with both hospital-based series and a large population-based series indicating that the frequency of germline mutations in RET, VHL, SDHB, and SDHD taken together approximates 20%. In all patients with pheochromocytoma, including those with known hereditary syndrome or a positive family history, the frequency of germline mutations in these four genes together approaches 30%. Given the frequency of germline mutations, consideration should be given to genetic counseling for all patients with pheochromocytoma and is particularly important for individuals with a positive family history, multifocal disease, or a diagnosis before age 50. Identification of patients with hereditary pheochromocytoma is important because it can guide medical management in mutation-positive patients and their families. This review provides an overview of the known genetic syndromes that are commonly associated with pheochromocytoma, examines recent data on the association of germline mutations in the succinate dehydrogenase gene family with pheochromocytoma, and suggests guidelines for the genetic evaluation of pheochromocytoma patients.
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http://dx.doi.org/10.1093/jnci/djg024DOI Listing
August 2003
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