Publications by authors named "Deborah Cragun"

64 Publications

Exploring racial and ethnic minority individuals' journey to becoming genetic counselors: Mapping paths to diversifying the genetic counseling profession.

J Genet Couns 2021 Mar 22. Epub 2021 Mar 22.

College of Public Health, University of South Florida, Tampa, FL, USA.

Reasons for limited ethnic and racial diversity among genetic counselors in the United States may be elucidated through better understanding the experiences of individuals from racial/ethnic minority backgrounds who are enrolled in genetic counseling graduate programs as well as recent graduates. Semi-structured interviews were conducted with racial/ethnic minority participants using Journey Mapping to elicit touchpoints that positively or negatively impact success at varying points along the path to becoming genetic counselors. Negative impacts observed at various touchpoints included the following: late awareness of the profession; observing lack of diversity in the field; financial burden of the application process; and microaggressions from peers, program leadership, and clinical supervisors. Positive impacts observed at various touchpoints included the following: group or personal mentors; opportunities to interact with practicing genetic counselors; opportunities to perform 'mock' admissions interviews; program interviews with a conversational interview style; and attending programs in cities with racially/ethnically diverse patient populations. Findings from this research suggest the lack of adequate infrastructure necessary to recruit and support racial/ethnic minority students is a critical systemic issue impeding progress toward diversifying the genetic counseling field. As such, this study reinforces the need for development, adaptation, and implementation of evidence-based strategies to optimize experiences of racial and ethnic minority individuals throughout the entire process of becoming a genetic counselor.
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http://dx.doi.org/10.1002/jgc4.1419DOI Listing
March 2021

Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers.

Patient Educ Couns 2021 Apr 5;104(4):720-725. Epub 2021 Jan 5.

College of Public Health, University of South Florida, Tampa, FL, USA.

Objective: This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM).

Methods: Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in aBRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers identified by participants when sharing their GTR with FM.

Results: Motivators to sharing personal GTR with FM included: health protection and prevention; moral obligation; decisional empowerment; familial ties; written resources; and contextualization for a familial cause for cancer. Challenges/barriers to family sharing included: concern for FM reactions; complexities of information; lack of closeness; perceived relevance; and emotional impact.

Conclusions: All motivators and challenges/barriers were identified across BRCA and non-BRCA carriers, demonstrating commonalities in family sharing of GTR among high- to moderate-penetrance hereditary BC (breast cancer) genes. Despite challenges/barriers, participants disclosed their GTR with most close FM, yet restrictions in communication and/or strain on the timing, manner of disclosing, and strategies used varied across certain FM.

Practice Implications: These findings offer healthcare providers and researchers preliminary practical implications for broadly improving family sharing interventions across P/LP variants in BC risk genes by demonstrating important elements to include in family sharing letters.
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http://dx.doi.org/10.1016/j.pec.2020.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005459PMC
April 2021

Correction to: Coincidence analysis: a new method for causal inference in implementation science.

Implement Sci 2021 Jan 12;16(1):11. Epub 2021 Jan 12.

Department of Implementation Science, Wake Forest School of Medicine, 525@Vine Room 5219, Medical Center Boulevard, Winston-Salem, NC, 27157, USA.

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http://dx.doi.org/10.1186/s13012-020-01079-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802317PMC
January 2021

Qualitative Methods for Refining a Web-Based Educational Tool for Patients Focused on Inherited Cancer Predisposition.

J Cancer Educ 2021 Jan 5. Epub 2021 Jan 5.

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

To address the increasing demand for inherited cancer genetic testing, we developed and evaluated a web-based educational tool to streamline genetic counseling (GC). Consented patients viewed the initial prototype containing core content (Version 1-Core) and provided feedback through three open-ended survey questions. Additional data were collected through individual interviews from a subgroup who viewed an enhanced version (Version 1-Enhanced), consisting of the same core content and additional optional content. Data were coded to synthesize most commonly repeated themes and conceptualize action items to guide refinement strategies. Of 305 participants, 80 responded to open-ended survey questions to suggest refinement strategies, after viewing Version 1-Core. Interviews with a subgroup of seven participants, who viewed Version 1-Enhanced, provided additional feedback. Of 11 unique action items identified, five overlapped across datasets (provide instructions, simplify language, improve visuals, embed knowledge questions with explanations, include more insurance-related information), three were identified only through open-ended survey data (incorporate automatic progression, clarify test result information, increase interactive content), and three were identified only through interviews (ensure core content is viewed, incorporate progress bar, feature embedded optional content at the end of the tool). Ten action items aligned with underlying tool objectives to provide an interactive online pre-test GC solution and were used to guide refinement strategies. Our results demonstrate the value of rigorous qualitative data collection and analysis in health research and the use of the self-directed learning framework and eHealth strategies to leverage technology in scaling up and innovating the delivery of pre-test GC for inherited cancer.
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http://dx.doi.org/10.1007/s13187-020-01929-5DOI Listing
January 2021

Coincidence analysis: a new method for causal inference in implementation science.

Implement Sci 2020 Dec 11;15(1):108. Epub 2020 Dec 11.

Department of Implementation Science, Wake Forest School of Medicine, 525@Vine Room 5219, Medical Center Boulevard, Winston-Salem, NC, 27157, USA.

Background: Implementation of multifaceted interventions typically involves many diverse elements working together in interrelated ways, including intervention components, implementation strategies, and features of local context. Given this real-world complexity, implementation researchers may be interested in a new mathematical, cross-case method called Coincidence Analysis (CNA) that has been designed explicitly to support causal inference, answer research questions about combinations of conditions that are minimally necessary or sufficient for an outcome, and identify the possible presence of multiple causal paths to an outcome. CNA can be applied as a standalone method or in conjunction with other approaches and can reveal new empirical findings related to implementation that might otherwise have gone undetected.

Methods: We applied CNA to a publicly available dataset from Sweden with county-level data on human papillomavirus (HPV) vaccination campaigns and vaccination uptake in 2012 and 2014 and then compared CNA results to the published regression findings.

Results: The original regression analysis found vaccination uptake was positively associated only with the availability of vaccines in schools. CNA produced different findings and uncovered an additional solution path: high vaccination rates were achieved by either (1) offering the vaccine in all schools or (2) a combination of offering the vaccine in some schools and media coverage.

Conclusions: CNA offers a new comparative approach for researchers seeking to understand how implementation conditions work together and link to outcomes.
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http://dx.doi.org/10.1186/s13012-020-01070-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730775PMC
December 2020

A Delphi study to prioritize genetic counseling outcomes: What matters most.

J Genet Couns 2020 Nov 12. Epub 2020 Nov 12.

Department of Genetics, Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA.

Research on genetic counseling outcomes has examined a range of metrics many that differ in quality and extent of psychometric assessment and in some cases fail to encompass potential benefits of genetic counseling for patients. Although a variety of possible outcomes have been explored, selecting the most important or relevant outcomes and identifying well-validated measures remain challenging. An online, modified Delphi method was used to prioritize genetic counseling outcomes from the viewpoint of individuals from four stakeholder groups - clinical genetic counselors, outcome researchers, genetic counseling training directors, and genetic counseling consumers/advocates. A survey of 181 genetic counseling outcomes were rated based on perceived importance and then sorted and categorized using the Framework for Outcomes of Clinical Communication Services in Genetic Counseling (FOCUS-GC) framework. Three of the FOCUS-GC domains (Process, Patient Care Experience, and Patient Changes) were assessed as most important, while none of the most highly rated outcomes fell into the domains of Patient Health or Family Changes. The majority of outcomes deemed most important by stakeholder groups were within the process domain. When looking at the proportion of outcomes that overlapped with the consumer group, clinical genetic counselors had the highest degree of similarity with consumers when looking at the high relative importance band outcomes (61.1% overlap), followed by training directors (58.3%), and outcome researchers (41.7%). Variability in importance according to stakeholder groups was an important consideration and prioritizing outcomes was challenging given that the majority of outcomes were rated as important. Working to bridge the realities of clinical care and fundamental differences in the viewpoints and priorities of genetic counseling research directions is an area for future exploration.
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http://dx.doi.org/10.1002/jgc4.1352DOI Listing
November 2020

Family communication of genetic test results among women with inherited breast cancer genes.

J Genet Couns 2020 Nov 10. Epub 2020 Nov 10.

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons were made across genes. The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and most were non-Hispanic whites (89%) with a prior breast cancer diagnosis (61%). When controlling for other variables, FC was higher among younger participants (p<.0001), those with high FC self-efficacy (p=.019), and those with P/LP variants in BRCA1/2 compared to PALB2 (p =.040) and ATM/CHEK2 (p =.032). Higher rates of FC and FT were also observed among female relatives and relatives of closer kinship. Overall 94% of participants would find one or more resources helpful with FC and 70% reported using FC resources when telling family members about their genetic test result. The three most commonly used resources included the following: (a) a family sharing letter (38%); (b) printed materials (30%); and (c) web-based information (23%). Among the 86% who spoke with a genetic counselor (GC), 93% were given at least one FC resource and the three most common resources GCs provided to participants overlapped with the resources participants would find helpful and those that were used. Our results suggest lower FC and FT rates among women with P/LP variants in genes other than BRCA1/2, the reasons for which should be evaluated in future studies. As more data to refine cancer risks and management are generated across these other inherited breast cancer genes, strategies to improve FC and FT are needed to amplify the benefits of genetic testing.
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http://dx.doi.org/10.1002/jgc4.1356DOI Listing
November 2020

False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden.

J Pers Med 2020 Oct 23;10(4). Epub 2020 Oct 23.

College of Public Health, University of South Florida, Tampa, FL 33612, USA.

We have entered an era of direct-to-consumer (DTC) genomics. Patients have relayed many success stories of DTC genomics about finding causal mutations of genetic diseases before showing any symptoms and taking precautions. However, consumers may also take unnecessary medical actions based on false alarms of "pathogenic alleles". The severity of this problem is not well known. Using publicly available data, we compared DTC microarray genotyping data with deep-sequencing data of 5 individuals and manually checked each inconsistently reported single nucleotide variants (SNVs). We estimated that, on average, a person would have ~5 "pathogenic" alleles reported due to wrongly reported genotypes if using a 23andMe genotyping microarray. We also found that the number of wrongly classified "pathogenic" alleles per person is at least as significant as those due to wrongly reported genotypes. We show that the scale of the false alarm problem could be large enough that the medical costs will become a burden to public health.
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http://dx.doi.org/10.3390/jpm10040187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712761PMC
October 2020

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer.

J Natl Compr Canc Netw 2020 07;18(7):841-847

2Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and.

Background: Increasing demand for genetic testing for inherited cancer risk coupled with a shortage of providers trained in genetics highlight the potential for automated tools embedded in the clinic process to meet this demand. We developed and tested a scalable, easy-to-use, 12-minute web-based educational tool that included standard pretest genetic counseling elements related to panel-based testing for multiple genes associated with cancer risk.

Methods: The tool was viewed by new patients at the Vanderbilt Hereditary Cancer Clinic before meeting with a board-certified genetics professional. Pre- and post-tool surveys measured knowledge, feeling informed/empowered to decide about testing, attitudinal values about genetic testing, and health literacy. Of the initial 100 participants, 50 were randomized to only have knowledge measured on the post-tool survey to assess for a priming effect.

Results: Of 360 patients approached, 305 consented and completed both the pre- and post-tool surveys, with a mean age of 47 years, including 80% female patients and 48% patients with cancer. Survey results showed an increase in knowledge and feeling informed/empowered after viewing the tool (P<.001), but no significant change in attitude (P=.64). Post-tool survey data indicated no difference in median knowledge between low and high health literacy groups (P=.30). No priming effect was present among the initial 100 participants (P=.675).

Conclusions: Viewing the educational tool resulted in significant gains in knowledge across health literacy levels, and most individuals felt informed and empowered to decide about genetic testing. These findings indicate that the use of an automated pretest genetic counseling tool may help streamline the delivery of genetic services.
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http://dx.doi.org/10.6004/jnccn.2020.7546DOI Listing
July 2020

In Fetal Therapy, an Obligation to Temper Excitement With Caution.

JAMA Pediatr 2020 10;174(10):929-930

Morsani College of Medicine, Department of Obstetrics and Gynecology, University of South Florida, Tampa.

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http://dx.doi.org/10.1001/jamapediatrics.2020.1525DOI Listing
October 2020

Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

Circ Genom Precis Med 2020 08 10;13(4):e002789. Epub 2020 Jun 10.

College of Public Health (K.P., D.C.), University of South Florida, Tampa, FL.

Background: Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management recommendations for VUS patients and their families, is important to prevent over- or under-treatment that may result in morbidity or mortality. The purpose of this study is to describe practices related to VUS results including information and medical management recommendations providers give patients and their families.

Methods: An anonymous online survey was distributed to genetic counselors (GCs) and cardiologists who have seen at least one patient for inherited arrhythmias or cardiomyopathies. The survey explored providers' confidence in counseling, explanation of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hypothetical scenario maximizing uncertainty with an unclear clinical and molecular diagnosis. Descriptive statistics were calculated, and median confidence and likelihood of making various medical recommendations were compared across provider type.

Results: Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23 cardiologists. GCs feel more confident than cardiologists counseling about VUS results (<0.001); while both cardiovascular GCs and cardiologists feel more confident than other GCs in providing input regarding medical management recommendations (=0.001 and =0.01, respectively). Cardiologists were more likely than cardiac GCs to recommend clinical testing for family members even though testing in the scenario is expected to be uninformative.

Conclusions: These findings illustrate how the expertise of different providers may impact decision processes, suggesting the need for interdisciplinary clinics to optimize care for challenging cases.
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http://dx.doi.org/10.1161/CIRCGEN.119.002789DOI Listing
August 2020

Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

Breast Cancer Res Treat 2020 Jul 22;182(2):421-428. Epub 2020 May 22.

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes.

Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes.

Results: The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and 61% had a prior breast cancer diagnosis. For women with P/LP variants in BRCA1/2, PALB2, and ATM/CHEK2, bilateral mastectomy (BM) rates were 79%, 61%, and 52%, and bilateral oophorectomy (BO) rates were 89%, 30%, and 37%, respectively. Among women with P/LP variants in PALB2 and ATM/CHEK2, 27% of those who had a BO had a family history of ovarian cancer. Contralateral mastectomy rates for women with P/LP variants in PALB2 and ATM/CHEK2 with unilateral breast cancer were 60% and 58%, and BM rates for those without breast cancer were 57% and 29%, respectively.

Conclusion: These findings suggest high rates of both contralateral mastectomies among those with unilateral breast cancer and BM among those without a breast cancer diagnosis across women with P/LP variants in high and moderate penetrance breast cancer genes. BO was also often utilized for risk reduction across these women. These findings suggest potential overtreatment through risk-reducing surgery, and highlight the importance of promoting guideline-adherent, risk-appropriate care.
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http://dx.doi.org/10.1007/s10549-020-05699-yDOI Listing
July 2020

Racial and ethnic differences in genetic counseling experiences and outcomes in the United States: A systematic review.

J Genet Couns 2020 04 6;29(2):147-165. Epub 2020 Mar 6.

Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.

As genetic counseling services expand and reach a wider catchment of the population, there is a critical need to better understand the impact of services on a greater diversity of patients. We conducted a systematic review to evaluate genetic counseling experiences and outcomes among racial and ethnic minorities. Six databases extracted articles published from 2005 to 2019 that assessed genetic counseling participation, knowledge and awareness, motivators, barriers, perceptions, and outcomes for racial and ethnic minority populations in the United States. Genetic counseling outcomes were categorized using the Framework for Outcomes of Clinical commUnication Services. A total of 1,227 abstracts were identified, of which 23 papers met inclusion criteria. Results suggest the possibility of racial and ethnic differences in some genetic counseling experiences and outcomes but noted differences were not adequately replicated between studies. The few included studies differed greatly in aims, methods, and results, which made comparison across study designs challenging and effectively barred thematic analysis. Additional research is needed that includes more study populations and settings with patients of diverse racial and ethnic backgrounds, as well as more structured study designs that allow for elucidations of differences between White and non-White populations.
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http://dx.doi.org/10.1002/jgc4.1230DOI Listing
April 2020

Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors.

Genet Med 2020 06 18;22(6):1088-1093. Epub 2020 Feb 18.

Vanderbilt University Medical Center, Nashville, TN, USA.

Purpose: All women diagnosed with breast cancer (BC) ≤age 50 should be referred for genetic counseling (GC) and testing. We sought to compare differences in provider practices and access across a racially and ethnically diverse population of young BC survivors.

Methods: A registry-based sample of women diagnosed with invasive BC ≤age 50 from 2009 to 2012 was recruited through the Florida Cancer Registry, and completed a questionnaire and medical record release. Differences were compared across those tested with or without the involvement of a board-certified or credentialed genetics health professional (GHP) in (1) clinical and demographic variables and (2) pretest GC elements.

Results: Of 1622 participants, there were 440 Blacks, 285 Hispanics, and 897 Non-Hispanic Whites. Of 831 participants with medical record verification of testing provider, 170 (20%) had documentation of GHP involvement. Among the 613 who recalled a pretest discussion and had GC elements collected, those with GHP involvement were significantly more likely to recall the seven recognized GC elements.

Conclusion: GHP involvement was associated with adherence to nationally recommended best practices. With the expanding importance of identifying inherited cancers, it is critical to ensure equitable access to best practices across all populations.
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http://dx.doi.org/10.1038/s41436-020-0762-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275890PMC
June 2020

The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer.

J Genet Couns 2020 06 7;29(3):410-422. Epub 2020 Jan 7.

Health Outcomes and Behavior Program, H. Lee Moffitt Cancer Center, Tampa, FL, USA.

Despite higher incidence and mortality of breast cancer among younger Black women, genetic testing outcomes remain severely understudied among Blacks. Past research on disclosure of genetic testing results to family members has disproportionately focused on White, educated, high socioeconomic status women. This study addresses this gap in knowledge by assessing (a) to whom Black women disclose genetic test results and (b) if patterns of disclosure vary based on test result (e.g., BRCA1/2 positive, negative, variant of uncertain significance [VUS]). Black women (N = 149) with invasive breast cancer diagnosed age ≤50 years from 2009 to 2012 received free genetic testing through a prospective, population-based study. At 12 months post-testing, women reported with whom they shared their genetic test results. The exact test by binomial distribution was used to examine whether disclosure to female relatives was significantly greater than disclosure to male relatives, and logistic regression analyses tested for differences in disclosure to any female relative, any male relative, parents, siblings, children, and spouses by genetic test result. Most (77%) women disclosed their results to at least one family member. Disclosure to female relatives was significantly greater than disclosure to males (p < .001). Compared to those who tested negative or had a VUS, BRCA1/2-positive women were significantly less likely to disclose results to their daughters (OR  = 0.25, 95% CI = 0.07-0.94, p = .041) by 12 months post-genetic testing. Genetic test result did not predict any other type of disclosure (all ps > 0.12). Results suggest that in Black families, one benefit of genetic testing-to inform patients and their family about cancer risk information-is not being realized. To increase breast cancer preventive care among high-risk Black women, the oncology care team should prepare Black BRCA1/2-positive women to share genetic test results with family members and, in particular, their daughters.
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http://dx.doi.org/10.1002/jgc4.1196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343233PMC
June 2020

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.

F1000Res 2019 19;8:1135. Epub 2019 Jul 19.

Global and Planetary Health, College of Public Health, University of South Florida, USF Genomics Program, 3720 Spectrum Blvd, Tampa, FL, 33612, USA.

: Basic and clinical scientific research at the University of South Florida (USF) have intersected to support a multi-faceted approach around a common focus on rare iron-related diseases. We proposed a modified version of the National Center for Biotechnology Information's (NCBI) Hackathon-model to take full advantage of local expertise in building "Iron Hack", a rare disease-focused hackathon. As the collaborative, problem-solving nature of hackathons tends to attract participants of highly-diverse backgrounds, organizers facilitated a symposium on rare iron-related diseases, specifically porphyrias and Friedreich's ataxia, pitched at general audiences. : The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich's Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. : As a result of this hackathon, we developed resources that are relevant not only to these specific disease-models, but also to other rare diseases and general bioinformatics problems. Within two and a half days, "Iron Hack" participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance. : The purpose of this manuscript is to demonstrate the utility of a hackathon model to generate prototypes of generalizable tools for a given disease and train clinicians and data scientists to interact more effectively.
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http://dx.doi.org/10.12688/f1000research.19140.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894363PMC
June 2020

Implementing universal cancer screening programs can help sustain genomic medicine programs.

Per Med 2020 01 4;17(1):9-13. Epub 2019 Dec 4.

Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44195, USA.

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http://dx.doi.org/10.2217/pme-2019-0126DOI Listing
January 2020

Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.

Ann Surg Oncol 2020 May 1;27(5):1659-1670. Epub 2019 Nov 1.

Department of Health Outcomes and Behavior, H. Lee Moffitt Cancer Center, Tampa, FL, USA.

Background: Black women are overrepresented among premenopausal breast cancer (BC) survivors. These patients warrant genetic testing (GT) followed by risk-reducing behaviors. This study documented patterns and predictors of cancer risk-management behaviors among young black BC survivors after GT.

Methods: Black women (n = 143) with a diagnosis of BC at the age of 50 years or younger received GT. At 1 year after GT, participants reported receipt of risk-reducing mastectomy, risk-reducing salpingo-oophorectomy, mammogram, breast magnetic resonance imaging (MRI), CA125 test, and transvaginal/pelvic ultrasound. Logistic regression was used to examine predictors of BC risk management (risk-reducing mastectomy or breast MRI) and ovarian cancer risk management (risk-reducing salpingo-oophorectomy, CA125 test, or transvaginal/pelvic ultrasound).

Results: Of the study participants, 16 (11%) were BRCA1/2-positive, 43 (30%) had a variant of uncertain significance, and 84 (59%) were negative. During the 12 months after GT, no women received risk-reducing mastectomy. The majority (93%) received a mammogram, and a smaller proportion received breast MRI (33%), risk-reducing salpingo-oophorectomy (10%), CA125 test (11%), or transvaginal/pelvic ultrasound (34%). Longer time since the BC diagnosis predicted lower likelihood of BC risk management (odds ratio [OR] 0.54). BRCA1/2 carrier status (OR 4.57), greater perceived risk of recurrence (OR 8.03), and more hereditary breast and ovarian cancer knowledge (OR 1.37) predicted greater likelihood of ovarian cancer risk management.

Conclusions: Young black BC survivors appropriately received mammograms and ovarian cancer risk management based on their BRCA1/2 test result. However, the low usage of MRI among BRCA1/2 carriers contrasts with national guidelines. Future research should examine barriers to MRI among black BC survivors. Finally, modifiable variables predicting risk management after GT were identified, providing implications for future interventions.
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http://dx.doi.org/10.1245/s10434-019-07982-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145726PMC
May 2020

Development of a motivational interviewing genetic counseling intervention to increase cascade cholesterol screening in families of children with familial hypercholesterolemia.

J Genet Couns 2019 10 5;28(5):1059-1064. Epub 2019 Jul 5.

Department of Genetics, Cell Biology, and Development, University of Minnesota-Twin Cities, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/jgc4.1145DOI Listing
October 2019

Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of the Genetic Information Nondiscrimination Act.

Genet Test Mol Biomarkers 2019 Feb 24;23(2):75-83. Epub 2019 Jan 24.

3 Vanderbilt University Medical Center, Department of Medicine, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.

Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors.

Materials And Methods: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire.

Results: There were 1182 participants of which 61% (174/285) of Hispanic patients, and 65% (580/897) of NHW patients had BC testing. Among untested participants, the most common barriers were lack of testing recommendation (44% Hispanics, 32% NHW; p = 0.02) and cost-related concerns (41% Hispanics, 40% NHW; p = 0.83). Among tested participants, the top facilitators were as follows: (1) "To benefit my family's future" (70% Hispanic, 68% NHW), (2) "My doctor recommended testing" (60% Hispanic, 54% NHW), and (3) "Minimal cost to me" (59% Hispanic, 72% NHW). Only 27% of tested and 15% of untested women were aware of GINA; misuse of test results was reported as a barrier for only 6.5%.

Conclusions: Rates of genetic testing recommendation are lower among Hispanics, but both groups reported additional barriers. Most are unaware of GINA, yet misuse is not a highly cited barrier. Findings suggest the need to educate providers on the importance of recommending testing to all who meet criteria; increase awareness of newer options for more affordable testing; and bolster facilitators that may increase testing uptake.
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http://dx.doi.org/10.1089/gtmb.2018.0253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383572PMC
February 2019

Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts.

BMC Health Serv Res 2018 Oct 30;18(1):824. Epub 2018 Oct 30.

Geisinger Genomic Medicine Institute, 100 N. Academy Ave, Danville, PA, 17822, USA.

Background: Systematic screening of all colorectal tumors for Lynch Syndrome (LS) has been recommended since 2009. Currently, implementation of LS screening in healthcare systems remains variable, likely because LS screening involves the complex coordination of multiple departments and individuals across the healthcare system. Our specific aims are to (1) describe variation in LS screening implementation across multiple healthcare systems; (2) identify conditions associated with both practice variation and optimal implementation; (3) determine the relative effectiveness, efficiency, and costs of different LS screening protocols by healthcare system; and (4) develop and test in a real-world setting an organizational toolkit for LS screening program implementation and improvement. This toolkit will promote effective implementation of LS screening in various complex health systems.

Methods: This study includes eight healthcare systems with 22 clinical sites at varied stages of implementing LS screening programs. Guided by the Consolidated Framework for Implementation Research (CFIR), we will conduct in-depth semi-structured interviews with patients and organizational stakeholders and perform economic evaluation of site-specific implementation costs. These processes will result in a comprehensive cross-case analysis of different organizational contexts. We will utilize qualitative data analysis and configurational comparative methodology to identify facilitators and barriers at the organizational level that are minimally sufficient and necessary for optimal LS screening implementation.

Discussion: The overarching goal of this project is to combine our data with theories and tools from implementation science to create an organizational toolkit to facilitate implementation of LS screening in various real-world settings. Our organizational toolkit will account for issues of complex coordination of care involving multiple stakeholders to enhance implementation, sustainability, and ongoing improvement of evidence-based LS screening programs. Successful implementation of such programs will ultimately reduce suffering of patients and their family members from preventable cancers, decrease waste in healthcare system costs, and inform strategies to facilitate the promise of precision medicine.

Trial Registration: N/A.
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http://dx.doi.org/10.1186/s12913-018-3636-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208012PMC
October 2018

Psychosocial impact of BRCA testing in young Black breast cancer survivors.

Psychooncology 2018 12 9;27(12):2778-2785. Epub 2018 Oct 9.

Moffitt Cancer Center, Tampa, FL, USA.

Objective: Prior studies demonstrating minimal psychological consequences for women receiving genetic counseling/genetic testing (GC/GT) for hereditary breast and ovarian cancer rely on predominantly Caucasian women. We conducted a prospective follow-up of a subset of participants from a population-based study of Black breast cancer (BC) survivors receiving GC/GT for BRCA1 and BRCA2 mutations.

Methods: Black women with invasive BC at age ≤ 50 years diagnosed between 2009 and 2012 were recruited through the Florida Cancer Registry. Participants (n = 215, age M = 44.7, SD = 6.2) were offered telephone pre- and post-test GC, a subset completed questionnaires assessing sociodemographic, clinical, and psychosocial variables.

Results: There were no baseline differences in cancer-related distress, psychological distress, or quality of life between test result groups. Social well-being improved in women receiving negative results (P = .01), but no other outcomes demonstrated significant changes over time between groups.

Conclusions: Our study is among the first to demonstrate minimal negative psychosocial outcomes following GC/GT among young Black BC survivors, irrespective of test results.
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http://dx.doi.org/10.1002/pon.4887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279596PMC
December 2018

Bridging the Chasm: Challenges, Opportunities, and Resources for Integrating a Dissemination and Implementation Science Curriculum into Medical Education.

J Med Educ Curric Dev 2018 Jan-Dec;5:2382120518761875. Epub 2018 Apr 4.

Prevention Research Center in St. Louis, Brown School, Washington University in St. Louis, St. Louis, MO, USA.

Background: Physicians are charged with implementing evidence-based medicine, yet few are trained in the science of Dissemination and Implementation (D&I). In view of the potential of evidence-based training in D&I to help close the gap between research and practice, the goal of this review is to examine the importance of D&I training in medical education, describe challenges to implementing such training, and provide strategies and resources for building D&I capacity.

Methods: We conducted (1) a systematic review to identify US-based D&I training efforts and (2) a critical review of additional literature to inform our evaluation of the challenges and opportunities of integrating D&I training in medical education.

Results: Out of 269 unique articles reviewed, 11 described US-based D&I training. Although vibrant and diverse training opportunities exist, their capacity is limited, and they are not designed to meet physicians' needs. Synthesis of relevant literature using a critical review approach identified challenges inherent to changing medical education, as well as challenges related to D&I science. Finally, selected strategies and resources are available for facilitating incorporation of D&I training into medical education and overcoming existing challenges.

Conclusions: Integrating D&I training in the medical education curriculum, and particularly in residency and fellowship training, holds promise for bridging the chasm between scientific discoveries and improved patient care and outcomes. However, unique challenges should be addressed, including the need for greater evidence.
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http://dx.doi.org/10.1177/2382120518761875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892792PMC
April 2018

Genetic counselor training for the next generation: Where do we go from here?

Am J Med Genet C Semin Med Genet 2018 03 7;178(1):38-45. Epub 2018 Mar 7.

Department of Global Health, College of Public Health, University of South Florida, Tampa, Florida.

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http://dx.doi.org/10.1002/ajmg.c.31598DOI Listing
March 2018

Shared decision making: Implications for return of results from whole-exome and whole-genome sequencing.

Transl Behav Med 2018 01;8(1):80-84

Moffitt Cancer Center, Division of Population Science, Health Outcomes and Behavior Program, Tampa, FL, USA.

In this issue, Kaphingst and colleagues report on young breast cancer patient's preferences for learning about various results from genomic sequencing. In our commentary, we discuss the results in light of the burgeoning clinical use of whole-exome and whole-genome sequencing (WES/WGS). In particular, we consider findings in the context of a Shared Decision Making approach to return of results. We also identify additional important factors to consider that may influence patient preferences that were largely absent from the paper by Kaphingst and colleagues, including cultural context, costs of testing, and provider factors.
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http://dx.doi.org/10.1093/tbm/ibx048DOI Listing
January 2018

Proposed outcomes measures for state public health genomic programs.

Genet Med 2018 09 4;20(9):995-1003. Epub 2018 Jan 4.

Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA.

Purpose: To assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy.

Methods: In this paper, we present the efforts to identify performance objectives and outcome metrics. Specific attention is placed on measures related to hereditary breast ovarian cancer (HBOC) syndrome and Lynch syndrome (LS), two conditions with existing evidence-based genomic applications that can have immediate impact on morbidity and mortality.

Results: Our assessment revealed few existing outcome measures. Therefore, using an implementation research framework, 38 outcome measures were crafted.

Conclusion: Evidence-based public health requires outcome metrics, yet few exist for genomics. Therefore, we have proposed performance objectives that states might use and provided examples of a few state-level activities already under way, which are designed to collect outcome measures for HBOC and LS.
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http://dx.doi.org/10.1038/gim.2017.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388766PMC
September 2018

Comment on "Can Breast Surgeons Provide Breast Cancer Genetic Testing? An American Society of Breast Surgeons Survey".

Ann Surg Oncol 2017 12 26;24(Suppl 3):588-589. Epub 2017 Oct 26.

Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.

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http://dx.doi.org/10.1245/s10434-017-6190-yDOI Listing
December 2017

Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.

J Genet Couns 2018 02 12;27(1):33-58. Epub 2017 Oct 12.

Department of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, Minneapolis, MN, USA.

Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.
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http://dx.doi.org/10.1007/s10897-017-0145-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796847PMC
February 2018

Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.

Cancer 2017 Jul 9;123(13):2497-2505. Epub 2017 Feb 9.

Population Sciences, Moffitt Cancer Center, Tampa, Florida.

Background: Breast cancer (BC) disparities may widen with genomic advances. The authors compared non-Hispanic white (NHW), black, and Hispanic BC survivors for 1) cancer risk-management practices among BRCA carriers and 2) provider discussion and receipt of genetic testing.

Methods: A population-based sample of NHW, black, and Hispanic women who had been diagnosed with invasive BC at age 50 years or younger from 2009 to 2012 were recruited through the state cancer registry. Multiple logistic regression was used to compare cancer risk-management practices in BRCA carriers and associations of demographic and clinical variables with provider discussion and receipt of testing.

Results: Of 1622 participants, 159 of 440 (36.1%) black women, 579 of 897 (64.5%) NHW women, 58 of 117 (49.6%) Spanish-speaking Hispanic women, and 116 of 168 (69%) English-speaking Hispanic women underwent BRCA testing, of whom 90 had a pathogenic BRCA mutation identified. Among BRCA carriers, the rates of risk-reducing mastectomy and risk-reducing salpingo-oophorectomy were significantly lower among black women compared with Hispanic and NHW women after controlling for clinical and demographic variables (P = .025 and P = .008, respectively). Compared with NHW women, discussion of genetic testing with a provider was 16 times less likely among black women (P < .0001) and nearly 2 times less likely among Spanish-speaking Hispanic women (P = .04) after controlling for clinical and sociodemographic factors.

Conclusions: The current results suggest that the rates of risk-reducing salpingo-oophorectomy are lower among black BRCA carriers compared with their Hispanic and NHW counterparts, which is concerning because benefits from genetic testing arise from cancer risk-management practice options. Furthermore, lower BRCA testing rates among blacks may partially be because of a lower likelihood of provider discussion. Future studies are needed to improve cancer risk identification and management practices across all populations to prevent the widening of disparities. Cancer 2017;123:2497-05. © 2017 American Cancer Society.
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http://dx.doi.org/10.1002/cncr.30621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474124PMC
July 2017