Publications by authors named "Elizabeth M Petty"

56 Publications

Preparing genetic counselors to serve Native American communities.

J Genet Couns 2021 Mar 18. Epub 2021 Mar 18.

Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.

As a medical specialty, genetic counseling (GC) espouses cultural sensitivity, a patient-centered approach, and an eye for the individual, familial, and community-wide implications of genetics and genomics in medicine. Within the past decades, the field of GC has recognized and attempted to address a need for the greater diversity of providers and practice settings that will help to address health inequities across underrepresented communities (Channaoui et al., 2020). Accreditation for GC training programs mandates equipping students with multicultural sensitivity and knowledge on health disparities. Currently however, there are limited published data about how GC programs are accomplishing these aims for Native American individuals and communities. Furthermore, there are limited published data on the unique needs and perspectives of Native Americans who may seek GC services. This disconnect may pose barriers for genetic counselors who aim to provide respectful and relevant care to Native American patients. Education of GC students is one important way to set the tone for a lifetime of practice and to inspire awareness and action toward alleviating disparities. Thus, we surveyed GC training programs in North America to investigate how they are working to (a) address disparities in Native American professional representation and student enrollment, (b) deliver culturally relevant curricula and clinical opportunities that serve the needs of Native Americans, and (c) positively engage Native American communities in North America. We found that reported recruitment efforts, curricula content, clinical opportunities, and community engagement efforts to address the needs of Native American are limited across GC training programs surveyed. By bringing awareness to current methods, success factors, and barriers in this space, we hope to open the door for meaningful partnerships between leaders of Native American communities and GC training programs in the pursuit of greater equity.
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http://dx.doi.org/10.1002/jgc4.1405DOI Listing
March 2021

University of Wisconsin School of Medicine and Public Health.

Acad Med 2020 Sep;95(9S A Snapshot of Medical Student Education in the United States and Canada: Reports From 145 Schools):S559-S562

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http://dx.doi.org/10.1097/ACM.0000000000003394DOI Listing
September 2020

The impact of insurance on equitable access to non-invasive prenatal screening (NIPT): private insurance may not pay.

J Community Genet 2021 Jan 6;12(1):185-197. Epub 2021 Jan 6.

School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.

Non-invasive prenatal testing (NIPT), is a prenatal screening test for chromosomal aneuploidies (trisomy 21, trisomy 18, and trisomy 13). While women under 35 years of age with no other risk factors are considered low risk for pregnancies with aneuploidy, most babies with aneuploidy are born to low-risk women. Across the USA, including Wisconsin, many private insurances do not cover initial NIPT for low-risk women, creating a potential financial burden that may limit patient selection of NIPT. Low-risk women with public insurance in Wisconsin are covered for NIPT. This pilot study determined if a difference exists in NIPT uptake based on insurance type in low-risk pregnant women in their first trimester. It also explored genetic counselor perspectives on how insurance coverage for NIPT is addressed with patients. Women with public insurance were 3.43 times more likely to have NIPT as an initial screen for aneuploidy than women with private insurance, indicating that insurance coverage may present a barrier to care. Additionally, analysis showed no evidence of different demographic variables interacting with another to impact outcome after allowing for insurance coverage (X14 = 14.301, p = 0.428). Our data also suggests that more genetic counselors would recommend NIPT to patients if insurance coverage was not a barrier and were more likely to discuss financial risks associated with NIPT when a patient had private insurance. We conclude that some women cannot choose one of the safest and most sensitive prenatal aneuploidy screening tests due to financial barriers put into place by the lack of insurance coverage.
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http://dx.doi.org/10.1007/s12687-020-00498-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846657PMC
January 2021

Exploring empathy in genetic counseling students and new genetic counselors.

J Genet Couns 2021 Feb 15;30(1):293-304. Epub 2020 Sep 15.

Department of Medicine, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.

Although empathy is widely recognized as an important trait for healthcare professionals, little research has examined empathy attributes in genetic counselors. Decreases in empathy levels have been recognized in other healthcare professionals over the span of their professional education program. This research sought to characterize empathy levels in first- and second-year genetic counseling students and recent (2017) graduates, and to determine whether there are differences in empathy levels displayed by genetic counseling students at different points in their training. Additionally, this research examined whether experiences prior to graduate school, including specific aspects of advocacy experience, correlated with differences in self-reported empathy levels among genetic counseling students and new genetic counselors. An online survey was administered to first- and second-year genetic counseling students and practicing genetic counselors to determine whether there were differences in empathy levels between these groups, and to analyze for associations between pre-graduate school advocacy work and levels of empathy as measured by the Interpersonal Reactivity Index (IRI). We identified significant differences in self-reported empathy levels in several of the subscales of the IRI between first-year students and second-year students, and between first-year students and recent graduates. Furthermore, we identified significantly lower scores on the personal distress subscale of the IRI in participants who engaged in advocacy work for longer than 12 months when compared to participants who engaged in advocacy work for between 6 and 12 months. Other advocacy and educational characteristics were also examined for correlations with IRI scores, and no significant associations were identified between these additional factors and self-reported empathy scores. Practice implications and recommendations for future research are discussed.
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http://dx.doi.org/10.1002/jgc4.1321DOI Listing
February 2021

The Impact of the COVID-19 Pandemic on Medical Student Education in Wisconsin.

WMJ 2020 06;119(2):80-82

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

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June 2020

An exploration of genetic counseling information needs and information-seeking behaviors.

J Genet Couns 2020 10 7;29(5):816-827. Epub 2020 Jan 7.

School of Medicine & Public Health, University of Wisconsin-Madison, Madison, WI, USA.

Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information available to genetic counselors. However, few published studies on genetic counseling information needs and seeking behaviors exist, and none look at information use across the profession. Meanwhile, a substantial body of research exists on this topic for other healthcare professionals, providing an evidence base supporting profession-tailored information-related services and resources. The purpose of this cross-sectional study was to explore genetic counseling information needs and seeking behaviors and to compare these needs and seeking behaviors across genetic counseling students and genetic counselors broadly, as well as to explore differences across various professional subgroups of genetic counselors. Genetic counselors and genetic counseling students were recruited via the National Society of Genetic Counselors and accredited genetic counseling programs to complete an online survey assessing information needs and seeking behaviors. Respondents were asked how often they used 70 different resources; whether 16 specific situations required additional information and how long it would take to get it and about specific barriers to obtaining that information. The results included a range of observations, including that GeneReviews and PubMed are frequently used resources across all respondents, that genetic counselors working 0-5 years are significantly more likely to need additional information when counseling patients from different cultural backgrounds than those working 6+ years, and that not having enough time is a common barrier to getting information across various situations. These results provide initial evidence to guide additional study on the efficient use and provision of information within the genetic counseling field.
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http://dx.doi.org/10.1002/jgc4.1210DOI Listing
October 2020

Alternative option labeling impacts decision-making in noninvasive prenatal screening.

J Genet Couns 2020 12 3;29(6):910-918. Epub 2019 Dec 3.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision-making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision-making has identified that labeling may have unanticipated effects on patient perceptions and decision-making processes. This Internet-administered study explored the impact of option labeling on the noninvasive prenatal screening (NIPS) selections of US adults. A total of 1,062 participants were recruited through Amazon Mechanical Turk (MTurk) and randomly assigned to one of three possible label sets reflecting provider-derived and industry-derived option labels used in prenatal screening. Multinomial logistic regression analysis showed option labeling had a statistically significant impact on the NIPS selections of study participants (p = .0288). Outcomes of the Satisfaction with Decision Scale (SWD) indicated option labels did not play a role in participant satisfaction with screening selection. The results of this study indicate a need for further evaluation of the impact NIPS option labeling has on patient screening decisions in real-world clinical interactions. Clinical providers and testing laboratories offering NIPS should give careful consideration to the option labels used with prenatal screening so as to minimize influence on patient screening selection and decision-making processes.
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http://dx.doi.org/10.1002/jgc4.1191DOI Listing
December 2020

Genetic counselor workforce generational diversity: Millennials to Baby Boomers.

J Genet Couns 2019 08 2;28(4):730-737. Epub 2019 Mar 2.

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

There are currently three generations of individuals that make up the genetic counselor workforce: Baby-Boomers, Generation X, and Millennials. These generations are presumed to be shaped by the historical, cultural, and social events that occurred during critical developmental periods. Understanding the underlying perceptions and viewpoints of genetic counselors regarding the multigenerational workforce may facilitate successful working relationships as well as recognition of the perceived unique characteristics that each generation offers. An online survey was distributed to practicing genetics counselors (GC) and genetic counseling students through the National Society of Genetic Counselors and the American Board of Genetic Counseling to elicit opinions about the perceived characteristics or skills of genetic counselors in each generation. Respondents (n = 407, estimated 10% response) preferentially assigned certain traits or skills to specific generations including their own. Findings suggest GC Baby Boomers were least likely to be described as "comfortable with phone or skype counseling" (p < 0.0001), Millennial GC, were least often assigned the term "Strong respect for authority" (p < 0.0005) and Generation X GC were most likely to be described as "Does not ask for feedback" (p < 0.05). These research findings demonstrate that GC perceive that their colleagues from every generation have unique attributes to bring to the profession and these attributes match those typically described in the U.S. literature about non-GC cohorts.
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http://dx.doi.org/10.1002/jgc4.1107DOI Listing
August 2019

Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor.

J Genet Couns 2018 08 8;27(4):978-987. Epub 2018 Feb 8.

Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.

The impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding-that of the changes in their own obstetric care perceived by genetic counselors while working within the prenatal setting and being pregnant themselves. As a result of these changes, considerations about when to disclose a pregnancy to colleagues along with how to integrate personal and professional needs as a pregnant prenatal genetic counselor surfaced. Additional findings, practice implications, and research recommendations are discussed.
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http://dx.doi.org/10.1007/s10897-018-0210-3DOI Listing
August 2018

Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective.

J Genet Couns 2018 06 24;27(3):565-573. Epub 2017 Sep 24.

University of Wisconsin School of Medicine and Public Health, Rm 333 Waisman Center, 1500 Highland Avenue, Madison, WI, 53703, USA.

The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters' thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study. Six were interviewed by telephone. Participants had worked with a variety of providers including geneticists, genetic counselors, primary care physicians, and oncologists. Factors identified by Hmong interpreters that made interpretation of content difficult in clinical genetics sessions included: time constraints, technical terms, and unique cultural perspectives of Hmong patients. While all respondents felt their primary role was to interpret session content as close to verbatim as possible, there was notable variation in the description of their interpretation style and other perceived roles in the genetic counseling session. Cultural issues genetics providers could consider when working with Hmong patients and different style issues when working with Hmong interpreters are discussed. Ideas for future studies and suggestions to improve communication with Hmong patients are explored.
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http://dx.doi.org/10.1007/s10897-017-0153-0DOI Listing
June 2018

Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.

J Genet Couns 2018 02 16;27(1):225-240. Epub 2017 Aug 16.

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives. In the present study, 423 genetic counselors and genetic counseling students completed a 70-item web-based survey that explored genetic counselors' experiences counseling family members outside of a clinic setting. The majority (73%; n = 301/410) of respondents have been asked to provide genetic counseling. Over half (57%; n = 257/423) provided counseling, personalized genetic information or risk assessment to family members. Only a small fraction of respondents (11%; n = 45/420) responded that they received any formal training in their graduate education, or in any other capacity that addressed the issue of how genetic counselors should respond to genetic counseling requests made family members. Those who have were less likely to provide genetic counseling to a family member (p < 0.05). Respondents who provided genetic counseling to relatives were significantly more likely to think their colleagues would do the same. Those who never provided genetic counseling to relatives were more likely to think their colleagues would refer to an unrelated genetic counselor (p < 0.0001). We highlight how our results have clinical and professional implications and provide suggestions to generate discussion among genetic counselors on how they might respond to requests for counseling from family members.
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http://dx.doi.org/10.1007/s10897-017-0138-zDOI Listing
February 2018

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.

J Genet Couns 2017 Dec 30;26(6):1401-1410. Epub 2017 Jun 30.

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men. Therefore, this study aimed to examine cancer incidence and related risk factors in men with low CGG repeat length in the FMR1 gene. We utilized subject data from the Marshfield Personalized Medicine Research Project to compare cancer-related diagnoses between 878 males with low CGG repeat length (< 24 repeats) and 368 male controls with CGG repeats in the normal range (24 to 40 repeats). We utilized ICD-9 codes to examine various cancer diagnoses, family histories of cancer, other non-malignant neoplasms, cancer surveillance, and genetic susceptibility. Men with low CGG repeats were identified to have significantly higher rates of family history of any cancer type (p = 0.011), family history of any BRCA-associated cancer (p = 0.002), and specifically, family history of prostate cancer (p = 0.007). The mean number of BRCA-associated cancer diagnoses (breast, prostate, pancreatic, and melanoma) per individual in the low CGG group was slightly higher than that of the control group, with this difference trending toward significance (p = 0.091). Additionally, men with low CGG repeats had significantly higher rates of connective/soft tissue neoplasms (p = 0.026). Additional research is needed to replicate the observations reported in this preliminary exploratory study, particularly including verification of ICD-9 codes and family history by a genetic counselor.
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http://dx.doi.org/10.1007/s10897-017-0116-5DOI Listing
December 2017

Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives.

J Genet Couns 2017 Dec 28;26(6):1388-1400. Epub 2017 Jun 28.

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors' interviews were transcribed and analyzed for emergent themes. Each of the counselors had served Hmong patients in a variety of clinics and possessed counseling experience ranging from approximately one to greater than 20 years. Interviews highlighted strengths and challenges in genetic counseling sessions with Hmong patients with limited English proficiency in each of five categories: 1) relevant training during graduate school, 2) session preparation, 3) content of the counseling session, 4) perception of Hmong culture, and 5) reflections on working with Hmong interpreters. Cultural awareness and education in training programs were highlighted by all genetic counselors as valued components to patient care. All interviewees had worked with professional Hmong medical interpreters, but had different expectations for the interpreter with whom they worked. To help improve genetic services for Hmong individuals in the United States, we offer suggestions to improve some of the challenges mentioned, and recommend further studies to investigate the genetic counselor and interpreter relationship.
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http://dx.doi.org/10.1007/s10897-017-0117-4DOI Listing
December 2017

Science of health care delivery as a first step to advance undergraduate medical education: A multi-institutional collaboration.

Healthc (Amst) 2017 Sep 23;5(3):98-104. Epub 2017 Mar 23.

Academic Outreach and Advancing a Healthier Wisconsin Endowment, Medical College of Wisconsin, United States.

Physicians must possess knowledge and skills to address the gaps facing the US health care system. Educators advocate for reform in undergraduate medical education (UME) to align competencies with the Triple Aim. In 2014, five medical schools and one state university began collaborating on these curricular gaps. The authors report a framework for the Science of Health Care Delivery (SHCD) using six domains and highlight curricular examples from each school. They describe three challenges and strategies for success in implementing SHCD curricula. This collaboration highlights the importance of multi-institutional partnerships to accelerate innovation and adaptation of curricula.
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http://dx.doi.org/10.1016/j.hjdsi.2017.01.003DOI Listing
September 2017

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

J Genet Couns 2016 10 23;25(5):868-79. Epub 2016 Jun 23.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.
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http://dx.doi.org/10.1007/s10897-016-9984-3DOI Listing
October 2016

An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function.

Neoplasia 2015 May;17(5):463-72

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA. Electronic address:

Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. Somatic AXIN2 mutations predicted to generate truncated AXIN2 (trAXIN2) proteins have been reported in some CRCs. Our studies of cells from an AXIN2 1989G>A mutation carrier showed that the mutant transcripts are not significantly susceptible to nonsense-mediated decay and, thus, could encode a trAXIN2 protein. In transient transfection assays, trAXIN2 was more abundant than wild-type AXIN2 protein, and in contrast to AXIN2, glycogen synthase kinase 3β inhibition did not increase trAXIN2 levels. Like AXIN2, the trAXIN2 protein interacts with β-catenin destruction complex proteins. When ectopically overexpressed, trAXIN2 inhibits β-catenin/T-cell factor-dependent reporter gene activity and SW480 CRC cell colony formation. These findings suggest the trAXIN2 protein may retain some wild-type functions when highly expressed. However, when stably expressed in rat intestinal IEC-6 cells, the trAXIN2 protein did not match AXIN2's activity in inhibiting Wnt-mediated induction of Wnt-regulated target genes, and SW480 cells with stable expression of trAXIN2 but not AXIN2 could be generated. Our data suggest the AXIN2 1989G>A mutation may not have solely a loss-of-function role in CRC. Rather, its contribution may depend on context, with potential loss-of-function when AXIN2 levels are low, such as in the absence of Wnt pathway activation. However, given its apparent increased stability in some settings, the trAXIN2 protein might have gain-of-function in cells with substantially elevated AXIN2 expression, such as Wnt pathway-defective CRC cells.
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http://dx.doi.org/10.1016/j.neo.2015.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468370PMC
May 2015

Anticipated motivation for genetic testing among smokers, nonsmokers, and former smokers: an exploratory qualitative study of decision making.

Public Health Genomics 2014 19;17(4):228-39. Epub 2014 Jul 19.

Department of Health Behavior and Health Education, University of Michigan, Ann Arbor, Mich., USA.

Objectives: This qualitative study explores the public's interest in genetic testing related to cigarette smoking, comparing the public's motivations with researchers' intentions for this technology.

Methods: Adult nonsmokers (n=463), former smokers (n=163), and current smokers (n=129) completed an online survey. Within a hypothetical scenario, respondents decided whether they desired genetic testing related to smoking and explained their decision making. A non-parametric Kruskal-Wallis test was used to compare the interest in genetic testing by smoking history group. Inductive content analysis was used to investigate respondents' explanations for their testing decisions.

Results: Most nonsmokers (64%) and former smokers (58%) did not want genetic testing. While most current daily smokers were interested in testing (56%), most current occasional smokers were not (52%). Respondents' decision-making explanations were categorized into 3 major themes: Causality, Relevancy and Utility (e.g. personal benefits or harms). The use of causality, relevancy and utility explanations varied by smoking history. Notable perceived benefits of testing included recreation and altruism. Notable perceived harms included fear of fatalistic thoughts and concern about genetic discrimination.

Conclusions: Interest in genetic testing was highest among current daily smokers, despite potential utility in other groups. Although respondents' motivations for testing paralleled researchers' intentions of tailoring smoking cessation therapies and increasing motivation to quit or abstain, respondents also raised alternative motivations and fears that healthcare providers would need to address.
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http://dx.doi.org/10.1159/000364803DOI Listing
October 2014

Genetic counseling graduate student debt: impact on program, career and life choices.

J Genet Couns 2014 Oct 1;23(5):824-37. Epub 2014 Mar 1.

Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA,

The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden.
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http://dx.doi.org/10.1007/s10897-014-9700-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476247PMC
October 2014

What is appropriate to post on social media? Ratings from students, faculty members and the public.

Med Educ 2014 Feb;48(2):157-69

Children's Hospital Boston/Boston Medical Center, Boston, Massachusetts, USA.

Objectives: The purpose of this study was to ascertain what medical students, doctors and the public felt was unprofessional for medical students, as future doctors, to post on a social media site, Facebook(®) . The significance of this is that unprofessional content reflects poorly on a student, which in turn can significantly affect a patient's confidence in that student's clinical abilities.

Methods: An online survey was designed to investigate the perceptions of University of Michigan medical students, attending physicians and non-health care university-wide employees (that serves as a subset of the public) regarding mock medical students' Facebook(®) profile screenshots. For each screenshot, respondents used a 5-point Likert scale to rate 'appropriateness' and whether they would be 'comfortable' having students posting such content as their future doctors.

Results: Compared with medical students, faculty members and public groups rated images as significantly less appropriate (p < 0.001) and indicated that they would be less comfortable (p < 0.001) having posting students as future doctors. All three groups rated screenshots containing derogatory or private information about patients, followed by images suggesting marijuana use, as least appropriate. Images conveying intimate heterosexual couples were rated as most appropriate. Overall, the doctor group, females and older individuals were less permissive when compared with employee and student groups, males and younger individuals, respectively.

Conclusions: The most significant conclusion of our study is that faculty members, medical students and the 'public' have different thresholds of what is acceptable on a social networking site. Our findings will prove useful for students to consider the perspectives of patients and faculty members when considering what type of content to post on their social media sites. In this way, we hope that our findings provide insight for discussions, awareness and the development of guidelines related to online professionalism for medical students.
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http://dx.doi.org/10.1111/medu.12282DOI Listing
February 2014

Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.

Am J Med Genet A 2013 Dec 6;161A(12):2981-8. Epub 2013 Nov 6.

Division of Cardiology, Johns Hopkins Hospital, Baltimore, Maryland.

Hypermobility type Ehlers-Danlos syndrome (EDS-HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations. This article presents a large-scale study that reports the lived experience of EDS-HT patients, the broad range of symptoms that individuals with EDS-HT experience, and the impact these symptoms have on daily functioning. A 237-item online survey, including validated questions regarding pain and depression, was developed. Four hundred sixty-six (466) adults (90% female, 52% college or higher degree) with a self-reported diagnosis of EDS-HT made in a clinic or hospital were included. The most frequently reported symptoms were joint pain (99%), hypermobility (99%), and limb pain (91%). They also reported a high frequency of other conditions including chronic fatigue (82%), anxiety (73%), depression (69%), and fibromyalgia (42%). Forty-six percent of respondents reported constant pain often described as aching and tiring/exhausting. Despite multiple interventions and therapies, many individuals (53%) indicated that their diagnosis negatively affected their ability to work or attend school. Our results show that individuals with EDS-HT can experience a wide array of symptoms and co-morbid conditions. The degree of constant pain and disability experienced by the majority of EDS-HT respondents is striking and illustrates the impact this disorder has on quality of life as well as the clinical challenges inherent in managing this complex connective tissue disorder.
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http://dx.doi.org/10.1002/ajmg.a.36293DOI Listing
December 2013

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.

J Genet Couns 2012 Oct 25;21(5):713-25. Epub 2012 Feb 25.

Adult Genetics Clinic, University of Colorado Hospital, Aurora, 80045, USA.

Emerging adulthood is an important period in the development of one's identity and autonomy. The ways in which identity and autonomy are viewed by emerging adults and how they impact quality of life (QoL) in individuals with early-onset neuromuscular conditions is not yet known. This study focused on understanding and exploring relationships between self-perceptions of emerging adulthood, autonomy, and QoL. Five previously validated measures were incorporated into an online survey and distributed to young adults with early-onset neuromuscular conditions and unaffected controls. Topics explored included individuals' views regarding their overall QoL, disease-specific QoL, components of emerging adulthood, and autonomy. We found that a sense of higher disease impact was associated with a lower Overall General QoL. Additionally, perceptions of key autonomy factors "negativity" and "instability" were uniquely associated with Overall General QoL in the case group as compared to controls, whereas "attitudinal autonomy" (attaining the ability to plan and follow through with goals) was important to this age group regardless of health status. The specific factors of emerging adulthood and autonomy that were significantly correlated with Overall General QoL can be used for developing targeted counseling and interventions to improve QoL for individuals and their families.
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http://dx.doi.org/10.1007/s10897-012-9492-zDOI Listing
October 2012

Steps solidifying a role for SEPT9 in breast cancer suggest that greater strides are needed.

Breast Cancer Res 2012 Jan 9;14(1):101. Epub 2012 Jan 9.

Septins comprise a conserved family of GTPase proteins. Of these, human SEPT9 has been widely implicated in cancers of epithelial origin, including breast cancer, as well as leukemia. In a previous issue of Breast Cancer Research, Connolly and colleagues present compelling data further supporting a role for SEPT9 isoforms in early breast cancer development as well as evidence suggesting that cellular localization patterns of SEPT9 isoforms may contribute to oncogenesis.
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http://dx.doi.org/10.1186/bcr3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496112PMC
January 2012

SEPT9_i1 and genomic instability: mechanistic insights and relevance to tumorigenesis.

Genes Chromosomes Cancer 2011 Nov 24;50(11):940-9. Epub 2011 Aug 24.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Septins are highly conserved cytoskeletal GTP-binding proteins implicated in numerous cellular processes from apoptosis to vesicle trafficking. Septins have been associated with leukemia and solid tumor malignancies, including breast, ovarian, and prostate. We previously reported that high SEPT9_i1 expression in human mammary epithelial cell lines (HMECs) led to malignant cellular phenotypes such as increased cell proliferation, invasiveness, motility, and genomic instability. Our goal here was to better understand how SEPT9_i1 expression might contribute to genomic instability and malignant progression. First, we confirmed that even transient expression of SEPT9_i1 was sufficient to increase aneuploidy in HMECs. We then analyzed SEPT9_i1 by immunoprecipitation and immunofluorescence studies and found that SEPT9_i1 interacts with both α and γ tubulin. SEPT9_i1 expressing cells demonstrated dramatic chromosome segregation defects, centrosome amplification and cytokinesis defects, suggesting two possible molecular mechanisms contributing to the development of genomic instability. This suggests that SEPT9_i1 may promote genomic instability through both cytokinesis and mitotic spindle defects which lead to chromosome missegregation.
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http://dx.doi.org/10.1002/gcc.20916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172617PMC
November 2011

CHFR binds to and regulates MAD2 in the spindle checkpoint through its cysteine-rich domain.

Biochem Biophys Res Commun 2011 Jun 7;409(3):389-93. Epub 2011 May 7.

Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA.

CHFR has been implicated as a tumor suppressor in a multitude of cancers. It was originally identified as a major component of the antephase checkpoint. Recently, CHFR was reported to interact with MAD2, an important component of the spindle assembly checkpoint, where CHFR knockdown resulted in mislocalization of MAD2 and disruption of the MAD2/CDC20 interaction. To further understand how CHFR interacts with MAD2, we deleted key functional domains of CHFR, and investigated the effect on MAD2 binding and function. Here we show that deletion of the cysteine-rich domain of CHFR is required for the CHFR/MAD2 interaction as well as proper localization of MAD2 in the cell. Furthermore, the cysteine-rich domain deletion exhibits impaired ability to promote the MAD2/CDC20 interaction, leading to an increase in mitotic defects relative to wild type CHFR. These data support a critical role for CHFR in the MAD2 spindle checkpoint. Furthermore, these data establish the cysteine-rich domain of CHFR as the essential domain for the CHFR/MAD2 interaction and for promoting interaction between MAD2 and CDC20 to inhibit the anaphase-promoting complex.
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http://dx.doi.org/10.1016/j.bbrc.2011.04.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114255PMC
June 2011

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

Hum Mutat 2011 Aug 21;32(8):877-86. Epub 2011 Jun 21.

Medical School, University of Michigan, Ann Arbor, Michigan, USA.

The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in cartilage and bone. The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. Many additional features secondary to NOG mutations are commonly but inconsistently observed, including a characteristic facies with a hemicylindrical nose, congenital conductive hearing loss due to stapes fixation, and hyperopia. The variable clinical presentations led to the designation of five different autosomal dominant syndromes, all subsequently found to have resulted from NOG mutations. These include (1) proximal symphalangism; (2) multiple synostoses syndrome 1; (3) stapes ankylosis with broad thumbs and toes; (4) tarsal-carpal coalition syndrome; and (5) brachydactyly type B2. Herein, we review the phenotypic features associated with mutations in the NOG gene, demonstrating the overlapping characteristics of these syndromes. Due to the variable phenotypic spectrum within families and among families with the same mutation, we propose a unifying term, NOG-related symphalangism spectrum disorder (NOG-SSD), to aid in the clinical recognition and evaluation of all affected individuals with these phenotypes. These NOG gene variants are available in a new locus-specific database (https://NOG.lovd.nl).
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http://dx.doi.org/10.1002/humu.21515DOI Listing
August 2011

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Am J Med Genet A 2011 Apr 17;155A(4):898-902. Epub 2011 Mar 17.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain. This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling. Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia. Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.
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http://dx.doi.org/10.1002/ajmg.a.33927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094478PMC
April 2011

Connections between CHFR, the cell cycle, and chemosensitivity: Are they critical in cancer?

Cancer Biol Ther 2010 Nov 1;10(9):942-4. Epub 2010 Nov 1.

Department of Cell and Development Biology, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.4161/cbt.10.9.13876DOI Listing
November 2010

High SEPT9_v1 Expression Is Associated with Poor Clinical Outcomes in Head and Neck Squamous Cell Carcinoma.

Transl Oncol 2010 Aug 1;3(4):239-45. Epub 2010 Aug 1.

The Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

The purpose of this work was to determine SEPT9_v1 expression levels in head and neck squamous cell carcinoma (HNSCC) and to analyze whether SEPT9_v1 expression is relevant to clinical outcomes. Recently, the SEPT9 isoform SEPT9_v1 has been implicated in oncogenesis, and methylation of the SEPT9 promoter region was reported in HNSCC. These findings led us to hypothesize that SEPT9_v1 could be differently expressed in HNSCC. To determine whether SEPT9_v1 is expressed in HNSCC, tissue microarray immunohistochemical analysis was performed using a SEPT9_v1-specific antibody. Tissue microarrays stained with a polyclonal SEPT9_v1-specific antibody was used to determine protein expression levels in HNSCC tissue samples, some with known clinical outcomes. This analysis showed that SEPT9_v1 is in fact highly expressed in HNSCC compared with normal epithelium, and high expression levels directly correlated with poor clinical outcomes. Specifically, a high SEPT9_v1 expression was associated with decreased disease-specific survival (P = .012), time to indication of surgery at primary site (P = .008), response to induction chemotherapy (P = .0002), and response to chemotherapy (P = .02), as well as advanced tumor stage (P = .012) and N stage (P = .0014). The expression of SEPT9_v1 was also strongly correlated with smoking status (P = .00094). SEPT9_v1 is highly expressed in HNSCC, and a high expression of SEPT9_v1 is associated with poor clinical outcomes. These data indicate that SEPT9_v1 warrants additional investigation as a potential biomarker for HNSCC.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2915415PMC
http://dx.doi.org/10.1593/tlo.10109DOI Listing
August 2010

USP32 is an active, membrane-bound ubiquitin protease overexpressed in breast cancers.

Mamm Genome 2010 Aug 13;21(7-8):388-97. Epub 2010 Jun 13.

Department of Biological Sciences, Inonu Bulvari, M.E.T.U, Ankara, Turkey.

USP32, on chromosomal band 17q23.1-17q23.2, is a highly conserved but uncharacterized gene that gave rise during evolution to a well-known hominoid-specific proto-oncogene, USP6. We investigated the expression profile of USP32 in human tissues and examined its functions to gain insight into this novel member of the well-conserved ubiquitination system. We detected ubiquitous USP32 expression across tissues and confirmed the predicted deubiquitination function owing to the presence of conserved peptidase signature aspargine, cysteine, histidine, and aspartic acid domains of ubiquitin-specific proteases. A Golgi localization of GFP-fused USP32 was detected by fluorescent protection assay and BODIPY-TR staining. In addition, stable silencing of USP32 caused a significant decrease in the proliferation and migration rate of cells. Based on these and the fact that USP32 maps to 17q23, which is commonly amplified in breast cancers, we analyzed USP32 expression in breast cancer cells. We detected high expression of USP32 in 50% (9 of 18) of breast cancer cell lines and 22% (9 of 41) of primary breast tumors compared to mammary epithelial cells. In summary, we report the preliminary characterization of this novel deubiquitinating enzyme on 17q23 and demonstrate its functional role in the ubiquitin system and its potential involvement in tumorigenesis.
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http://dx.doi.org/10.1007/s00335-010-9268-4DOI Listing
August 2010

miRNAs and cancer: New research developments and potential clinical applications.

Cancer Biol Ther 2009 Dec 30;8(24):2317-22. Epub 2009 Dec 30.

Department of Biological Sciences, M.E.T.U. (Middle East Technical University), Inonu Bulvari, Ankara, Turkey.

miRNAs are small non-protein coding transcripts that regulate gene expression post-transcriptionally by binding to the 3' UTRs (untranslated regions) of messenger RNAs (mRNAs). The number of newly discovered miRNAs and our understanding of their biological roles continue to grow. In addition to their roles in important biological processes such as development, differentiation, proliferation and cell death, deregulated expression of miRNAs has been implicated in a wide range of pathologies, especially in cancer. We now understand that miRNA expression is often deregulated in cancer cells and that a vast number of genes, including tumor suppressor genes and oncogenes, are regulated by these small RNAs. The small size of miRNAs and sequence similarity of miRNA family members pose some challenges in routine molecular detection and quantification techniques. Therefore, methods are being modified to specifically and sensitively detect miRNAs in cancer cells. Our current knowledge and the ever increasing pace of new discoveries clearly show that miRNAs are quite important in normal and in cancer cells in surprisingly diverse aspects. The better we understand how miRNAs contribute to cancer, the more likely we will be able to exploit them as tumor classifiers, biomarkers and, potentially, as unique targets for therapeutic applications.
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http://dx.doi.org/10.4161/cbt.8.24.10765DOI Listing
December 2009