Publications by authors named "Beverly M Yashar"

41 Publications

Rewards and challenges of parenting a child with Down syndrome: a qualitative study of fathers' perceptions.

Disabil Rehabil 2020 Apr 7:1-12. Epub 2020 Apr 7.

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

Most studies on parenting children with Down syndrome and other intellectual disabilities have focused on stress and coping; however, research has shown many rewards in parenting such children. Additionally, most research has assessed mothers' rather than fathers' perspectives. To take steps toward filling these literature gaps, we asked fathers of children with Down syndrome about their parenting experiences. Participants were 175 fathers of children with Down syndrome. Open-ended questions asked fathers what they found most rewarding and challenging about parenting a child with Down syndrome. Researchers coded responses using inductive content analysis. Key themes for rewards included: (1) Child's Positive Attributes and Behaviors; (2) Rewarding Father-Child Relationship; (3) Child Has Positively Changed Father; and (4) Father's Positive Relationship with Others. Key themes for challenges included: (1) Father's Thoughts, Emotions, and Behaviors; (2) Child's Challenging Behavior and Development; (3) System and Institutional Problems; and (4) Other People's Negative Attitudes/Behaviors. Rewards mainly concerned the father-child bond and the loving, happy child. Fathers rarely mentioned financial stressors or their children's negative behaviors. Instead, many fathers reported children's speech problems. Our findings may assist healthcare professionals in providing more beneficial resources and interventions (especially language-related ones) to families with a child with Down syndrome.Implications for rehabilitationConsistent with a positive psychology approach, fathers reported more rewards than challenges in raising a child with Down syndrome.There may be a need for greater involvement of fathers in language interventions for children with Down syndrome.Healthcare professionals can assist parents of children with Down syndrome in recognizing parenting rewards.
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http://dx.doi.org/10.1080/09638288.2020.1745907DOI Listing
April 2020

Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting.

J Genet Couns 2020 02 13;29(1):67-77. Epub 2019 Nov 13.

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

This study assessed genetic counselors' (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time-consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re-allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re-allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill-set.
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http://dx.doi.org/10.1002/jgc4.1181DOI Listing
February 2020

Development of a decision support tool in pediatric Differences/Disorders of Sex Development.

Semin Pediatr Surg 2019 Oct 13;28(5):150838. Epub 2019 Sep 13.

Department of Social and Behavioral Sciences, College of Public Health, Temple University, United States.

Decisions about how best to clinically care for young children born with Disorders of Sex Development (DSD) can be challenging because some decisions are irreversible, have lasting physical and mental health effects, and are frequently made before the affected person is able to participate in decision-making. This multi-stage study involved (1) the development of a web-based decision support tool (DST) for parents of infants or young children and the clinicians caring for them; (2) the assessment of communications and decision making between DSD specialists and parents both before and after introduction of the DST; and (3) interviews with a broad range of stakeholders regarding optimizing the DST and integrating it into usual care. Experience over the course of the 3 stages of this research suggests the need for further refinement of the DST to increase acceptability to all stakeholder groups, the necessity to address misperceptions by providers that they are already accomplishing all aspects of SDM in regular care without a DST and misunderstandings by parents that decisions are unnecessary because only a single option is apparent, and to better incorporate the tool into regular clinic workflow.
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http://dx.doi.org/10.1016/j.sempedsurg.2019.150838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911706PMC
October 2019

Certified Nurse-Midwives' Experiences With Provision of Prenatal Genetic Screening: A Case for Interprofessional Collaboration.

J Perinat Neonatal Nurs 2019 Oct/Dec;33(4):E3-E14

UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania (Ms Dettwyler); University of Michigan School of Medicine, Ann Arbor (Dr Yashar); and University of Michigan School of Nursing, Ann Arbor (Dr Zielinski).

Prenatal genetic screening (GS) for the most common autosomal aneuploidies encompasses maternal serum screening (MSS) and noninvasive prenatal testing (NIPT, or cell-free fetal DNA testing). In the United States, most maternity care is provided by obstetrician-gynecologists; however, women are increasingly utilizing the services of certified nurse-midwives (CNMs). Currently, limited research exists on midwives' experiences with providing prenatal GS. Therefore, the purpose of this study was to explore CNMs' experiences in providing prenatal GS. A semistructured guide focused on MSS and NIPT was used to interview a convenience sample of 13 CNMs. Results were coded and analyzed using grounded theory to elicit overarching themes. Results were organized into 6 themes describing CNMs' prenatal GS provision: (1) clinical protocols; (2) patient education; (3) patient-CNM shared decision-making process; (4) testing initiation; (5) results delivery; and (6) follow-up coordination. Key influences on midwives' perspectives on offering prenatal GS included a noninterventionist approach to pregnancy and past experiences with false-positive MSS results. Participants had an understanding of prenatal GS that was appropriate to midwifery scope of practice. Results indicate that NIPT utilization is compatible with the midwifery philosophy of noninterventionism, although midwives had limited experiences with NIPT to date.
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http://dx.doi.org/10.1097/JPN.0000000000000440DOI Listing
April 2020

Primary care physicians' understanding and utilization of pediatric exome sequencing results.

J Genet Couns 2019 12 30;28(6):1130-1138. Epub 2019 Aug 30.

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

Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty-seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45-question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty-five-percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients' families to assume follow-up care responsibility and future ES results re-interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.
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http://dx.doi.org/10.1002/jgc4.1163DOI Listing
December 2019

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.

Sociol Health Illn 2019 11 21;41(8):1520-1534. Epub 2019 Jun 21.

Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, USA.

Based on audio recordings of consultations in three U.S. paediatric multidisciplinary Disorders of Sex Development-Intersex clinics, we examine the process of gender assignment of children with "atypical" genitalia. Rather than fully determined by the presence of biological sex traits, the gender assignment discussion hinges on how clinician and parent collaboratively imagine different aspects of what constitutes being a gendered person. They orient towards the potential for sexual intimacy, fertility, gender dysphoria, stigma, and gonadal cancer risk. While these futures remain inherently uncertain, clinicians and parents plan to mobilise gender socialisation and medical interventions to render their choice of gender a self-fulfilling prophecy. Gender destinies capture that the child always had a specific, innate gender awaiting discovery, and presumes a project for medical and social monitoring, intervention, correction, and optimisation.
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http://dx.doi.org/10.1111/1467-9566.12974DOI Listing
November 2019

Improving access to cancer genetic services: perspectives of high-risk clients in a community-based setting.

J Community Genet 2020 Jan 24;11(1):119-123. Epub 2019 Apr 24.

Department of Human Genetics, University of Michigan, 4909 Buhl Building, 1241 E Catherine St, Ann Arbor, MI, 48109-5618, USA.

Cancer genetic services are underutilized by high-risk clients in community-based health settings. To understand this disparity, 108 Planned Parenthood high-risk clients completed a utilization-focused survey. Clients expressed interest (78.8%) and intention (75.0%) in seeking genetic services. Personal/familial implications for cancer risk were the strongest motivators for seeking services (63.0-79.6%). Finances (39.6%) and worry (37.0%) were the biggest barriers. To reduce disparities in access to cancer genetics services, clinicians must understand clients' concerns and tailor their recommendations.
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http://dx.doi.org/10.1007/s12687-019-00420-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962404PMC
January 2020

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

J Health Soc Behav 2018 12 10;59(4):520-535. Epub 2018 Oct 10.

2 University of Michigan-Ann Arbor, Ann Arbor, MI, USA.

Genital surgery in children with ambiguous or atypical genitalia has been marred by controversies about the appropriateness and timing of surgery, generating clinical uncertainty about decision making. Since 2006, medical experts and patient advocates have argued for putting the child's needs central as patient-centered care. Based on audio recordings of 31 parent-clinician interactions in three clinics of disorders of sex development, we analyze how parents and clinicians decide on genital surgery. We find that clinicians and parents aim for parent-centered rather than infant-centered care. Parents receive ambivalent messages about surgery: while clinicians express caution, they also present the surgery as beneficial. We examine how parents and clinicians reach agreement about surgery-differentiating parents who push strongly for surgery from parents who do not express any preconceived preferences about surgery and parents who resist surgery. We conclude that clinicians use clinical uncertainty about surgery strategically to direct parents toward perceived clinically appropriate decisions.
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http://dx.doi.org/10.1177/0022146518802460DOI Listing
December 2018

Evaluating and improving the implementation of a community-based hereditary cancer screening program.

J Community Genet 2019 Jan 5;10(1):51-60. Epub 2018 Mar 5.

Department of Human Genetics, University of Michigan, 4909 Buhl Building, 1241 E Catherine St, Ann Arbor, MI, 48109-5618, USA.

Healthcare disparities exist in the provision of cancer genetic services including genetic counseling and testing related to BRCA1/2 mutations. To address this in a community health setting a screening tool was created to identify high-risk women. This study evaluates the implementation of the tool and identifies opportunities for improved cancer genetic screening, including regular clinician education. A mixed-method approach was used to evaluate clinician utilization of the screening tool at Planned Parenthood affiliates. Novel surveys that evaluated acceptance and implementation were administered to clinicians (n = 14) and semi-structured interviews (n = 6) were used to explore clinicians' perspectives and identify gaps in its utilization. Educational modules that addressed gaps were developed, implemented, and evaluated using a post-education survey (n = 8). Clinicians reported confidence in administering and interpreting the screening tool, but reported less confidence in their knowledge of cancer genetics and ability to connect clients with genetic counseling and testing (p = .003). Educational modules resulted in significant gains in clinician knowledge on genetic topics (p < .05) and increased self-reported confidence in connecting clients with genetic services. The modules reinforced the belief that genetic testing is beneficial for patients at increased risk (p = .001) and is important to inform subsequent medical management (p = .027). While building community clinicians' capacity to connect clients with genetic services is crucial, it is challenged by knowledge and confidence gaps in discussions of genetic services with clients. Consistent genetic-focused education with non-genetic clinicians can improve confidence and knowledge, enabling a more effective screening program in community health settings.
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http://dx.doi.org/10.1007/s12687-018-0357-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325040PMC
January 2019

"My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss.

J Genet Couns 2018 06 4;27(3):597-607. Epub 2017 Oct 4.

Genetic Counseling Program, University of Michigan Health System, Ann Arbor, MI, USA.

The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.
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http://dx.doi.org/10.1007/s10897-017-0149-9DOI Listing
June 2018

Physician Experiences and Understanding of Genomic Sequencing in Oncology.

J Genet Couns 2018 02 24;27(1):187-196. Epub 2017 Aug 24.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 48109-5419, USA.

The amount of information produced by genomic sequencing is vast, technically complicated, and can be difficult to interpret. Appropriately tailoring genomic information for non-geneticists is an essential next step in the clinical use of genomic sequencing. To initiate development of a framework for genomic results communication, we conducted eighteen qualitative interviews with oncologists who had referred adult cancer patients to a matched tumor-normal tissue genomic sequencing study. In our qualitative analysis, we found varied levels of clinician knowledge relating to sequencing technology, the scope of the tumor genomic sequencing study, and incidental germline findings. Clinicians expressed a perceived need for more genetics education. Additionally, they had a variety of suggestions for improving results reports and possible resources to aid in results interpretation. Most clinicians felt genetic counselors were needed when incidental germline findings were identified. Our research suggests that more consistent genetics education is imperative in ensuring the proper utilization of genomic sequencing in cancer care. Clinician suggestions for results interpretation resources and results report modifications could be used to improve communication. Clinicians' perceived need to involve genetic counselors when incidental germline findings were found suggests genetic specialists could play a critical role in ensuring patients receive appropriate follow-up.
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http://dx.doi.org/10.1007/s10897-017-0134-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810555PMC
February 2018

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.

Genet Med 2018 01 22;20(1):69-75. Epub 2017 Jun 22.

Department of Internal Medicine-Cardiology, University of Michigan, Ann Arbor, Michigan, USA.

PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family screening.ResultsThe outcome of cardiac screening on 267 family members was reported by 120 survey respondents. Subjects with positive genetic test or family history (n=74, 62%) reported an HCM diagnosis in 34 of 203 first-degree relatives who were screened (17%). Affected family members were diagnosed at a mean age of 30-39 years, and 22 of 34 experienced HCM-related adverse events (65%). Gene test-negative subjects with no prior family history of HCM (n=46, 38%) reported an HCM diagnosis in only 2 of 64 first-degree relatives who were screened (3%, p<0.001). These two individuals were diagnosed at age >40 years without HCM-related adverse events.ConclusionHypertrophic cardiomyopathy is a heterogeneous disorder, only half of which tracks with a Mendelian inheritance pattern. Negative genetic testing and family history indicates a more complex genetic basis corresponding to low risk for family members.
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http://dx.doi.org/10.1038/gim.2017.79DOI Listing
January 2018

A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations.

J Genet Couns 2017 Jun 28;26(3):469-479. Epub 2016 Jul 28.

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

Type 2 diabetes mellitus (T2DM) genetic testing is undergoing clinical trials to measure the efficacy of genetic counseling for behavior-based risk reduction. The expectations patients bring to the testing process may play an important role in individual outcomes. We conducted a qualitative exploration of anticipated decision-making and expectations around T2DM genetic testing. Semi-structured interviews were completed with Mexican Americans (n = 34), non-Hispanic Black Americans (n = 39), and non-Hispanic White Americans (n = 39) at risk for T2DM. Transcripts were analyzed for themes. Most participants would accept T2DM genetic testing in order to motivate risk-reducing behaviors or apprise family members of their risk. Participants who would decline testing wished to avoid emotional distress or believed the test would not reveal new risk information. Non-Hispanic Whites and those with college education declined genetic testing more often than other groups. Those without college education were more likely to have testing expectations that were discordant with current science, such as conflating genetic testing with common 'blood tests.' Understanding expectations and decision-making factors around T2DM genetic testing will better prepare healthcare professionals to counsel their patients. This may lead to a higher efficacy of T2DM genetic testing and counseling.
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http://dx.doi.org/10.1007/s10897-016-9999-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5274587PMC
June 2017

Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs.

Genet Med 2016 08 7;18(8):842-9. Epub 2016 Jan 7.

Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

Purpose: Although there is an anticipated need for more genetic counselors, little is known about limitations at the graduate training level. We evaluated opportunities for growth of the genetic counseling (GC) workforce by exploring program directors' perspectives on increasing number of graduate trainees.

Methods: Thirty US-based GC program directors (PDs) were recruited through the Association of Genetic Counseling Program Directors' listserv. Online surveys and semistructured phone interviews were used to explore factors impacting the expansion of the GC workforce.

Results: Twenty-five PDs completed the survey; 18 interviews were conducted. Seventy-three percent said they believe that the workforce is growing too slowly and the number of graduates should increase. Attitudes were mixed regarding whether the job market should be the main factor driving workforce expansion. Thematic analysis of transcripts identified barriers to program expansion in six categories: funding, accreditation requirements, clinical sites, faculty availability, applicant pool, and physical space.

Conclusion: General consensus among participants indicates the importance of increasing the capacity of the GC workforce pipeline. Addressing funding issues, examining current accreditation requirements, and reevaluating current education models may be effective strategies to expanding GC program size. Future research on increasing the number of GC programs and a needs assessment for GC services are suggested.Genet Med 18 8, 842-849.
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http://dx.doi.org/10.1038/gim.2015.179DOI Listing
August 2016

Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

Am J Med Genet A 2016 Feb 9;170A(2):375-385. Epub 2015 Nov 9.

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

Non-invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less support for individuals with Down syndrome. To assess the impact of NIPS on support for prenatal testing, decision-making about testing, and beliefs or attitudes about Down syndrome, we performed an Internet-based experiment using adults (N = 1,789) recruited through Amazon Mechanical Turk. Participants were randomly assigned to read a mock news article about NIPS, a mock news article about amniocentesis, or no article. The content in the two articles varied only in their descriptions of the test characteristics. Participants then answered questions about their support for testing, hypothetical testing decision, and beliefs and attitudes about Down syndrome. Reading the mock NIPS news article predicted increased hypothetical test uptake. In addition, the NIPS article group also agreed more strongly that pregnant women, in general, should utilize prenatal testing. We also found that the more strongly participants supported prenatal testing for pregnant women, the less favorable their attitudes towards individuals with Down syndrome; providing some evidence that NIPS may indirectly result in more negative perceptions of individuals with this diagnosis.
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http://dx.doi.org/10.1002/ajmg.a.37460DOI Listing
February 2016

The Lived Experience of MRKH: Sharing Health Information with Peers.

J Pediatr Adolesc Gynecol 2016 Apr 8;29(2):154-8. Epub 2015 Oct 8.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

Study Objective: To examine the process and emotional effect of disclosing a personal diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) to peers during adolescence and young adulthood.

Design And Setting: Qualitative study using semistructured telephone interviews.

Participants: Nine women diagnosed with MRKH, aged 21-31 years, recruited via patient support groups.

Interventions And Main Outcome Measures: Motivators and barriers to self-disclosure of a diagnosis of MRKH to peers and partners.

Results: Motivators to tell peers about a diagnosis included significant trust in the relationship (whether platonic or romantic), needing to unload the experienced burden of diagnosis, and a sense of responsibility to be forthcoming if a long-term romantic future was desired. The most common barrier to telling others was fear of rejection or being labeled a "freak." Although most participants did not receive guidance from a health care provider regarding approaches to sharing diagnostic information with others, almost all participants reported wishing they had received such counseling.

Conclusion: A diagnosis of MRKH elicits recurring anxieties about disclosure and the effect on relationships that are inadequately addressed by health care providers. Guidance and support on disclosure to friends and romantic partners should be provided whenever possible.
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http://dx.doi.org/10.1016/j.jpag.2015.09.009DOI Listing
April 2016

Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.

J Genet Couns 2016 Feb 19;25(1):101-11. Epub 2015 May 19.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.

Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi-structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children's health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child's condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including "VUS" and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow-up but had misconceptions about how this would occur. These results provide insight into the patient-and-family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.
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http://dx.doi.org/10.1007/s10897-015-9847-3DOI Listing
February 2016

Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

Genet Med 2015 Sep 11;17(9):757-60. Epub 2014 Dec 11.

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

Purpose: The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China.

Methods: An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated.

Results: Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P < 0.05). Sixty-six percent of physicians indicated a desire for specialized genetic services, and 84% reported a desire for additional genetics education.

Conclusion: This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.
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http://dx.doi.org/10.1038/gim.2014.182DOI Listing
September 2015

Family communication in a population at risk for hypertrophic cardiomyopathy.

J Genet Couns 2015 Apr 12;24(2):336-48. Epub 2014 Oct 12.

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

Encouraging family communication is an integral component of genetic counseling; therefore, we sought to identify factors impacting communication to family members at risk for Hypertrophic Cardiomyopathy (HCM). Participants (N = 383) completed an online survey assessing: 1) demographics (gender, genetic test results, HCM family history, and disease severity); 2) illness representations; 3) family functioning and cohesiveness; 4) coping styles; 5) comprehension of HCM autosomal dominant inheritance; and 6) communication of HCM risk information to at-risk relatives. Participants were a national sample of individuals with HCM, recruited through the Hypertrophic Cardiomyopathy Association. Data from 183 participants were analyzed using a logistic regression analysis, with family communication as a dichotomous dependent variable. We found that female gender and higher comprehension of autosomal dominant inheritance were significant predictors of participants' communication of HCM risk information to all their siblings and children. Our results suggest that utilizing interventions that promote patient comprehension (e.g., a teaching-focused model of genetic counseling) are important and may positively impact family communication within families with HCM.
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http://dx.doi.org/10.1007/s10897-014-9774-8DOI Listing
April 2015

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

Introduction to the special issue on genetic counseling: a global perspective.

J Genet Couns 2013 Dec 11;22(6):685-7. Epub 2013 Oct 11.

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

This special issue of the Journal of Genetic Counseling is focused on the global genetic counselling community and includes commentaries, original research and multiple brief reports describing both established formal genetic counselling services and training programs as well as services and programs that are currently in development.
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http://dx.doi.org/10.1007/s10897-013-9658-3DOI Listing
December 2013

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Am J Med Genet A 2013 Aug 3;161A(8):1882-96. Epub 2013 Jul 3.

Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA.

Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the likely responsible gene identified as DMRT1. Similar to patients with other molecular causes of 46,XY gonadal dysgenesis, patients with partial del 9p have an increased risk of gonadoblastoma. We present two patients with 46,XY gonadal dysgenesis due to partial 9p monosomy. Both patients were also diagnosed with gonadoblastoma following gonadectomy at an early age. Chromosomal microarray analyses refined the cytogenetic abnormalities and allowed potential genotype-phenotype relationships to be determined. We also review the literature as it pertains to partial 9p monosomy, genital abnormalities and gonadoblastoma and note that a large percentage of affected patients present with two copy number variations. We propose that a two-hit mechanism may be involved in the incomplete penetrance and variable expressivity of partial 9p monosomy and an abnormal genital phenotype. The significant percentage of gonadoblastoma in patients with 46,XY complete gonadal dysgenesis due to partial 9p monosomy also continues to support the necessity of gonadectomy in this patient population.
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http://dx.doi.org/10.1002/ajmg.a.36018DOI Listing
August 2013

Peering into a Chilean black box: parental storytelling in pediatric genetic counseling.

J Genet Couns 2013 Dec 29;22(6):805-16. Epub 2013 Jun 29.

John T. Macdonald Foundation Department of Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Ave; BRB 334 (M-860), Miami, FL, 33136, USA,

While genetic counseling has expanded to multiple international settings, research about providing culturally sensitive services to non-U.S. patients is limited. To gain insights, we utilized a process study to explore parental communication in pediatric genetics clinics in Chile. We utilized a phenomenological hermeneutic approach to assess storytelling in six pediatric sessions that were conducted in Spanish, and translated into English. The majority of the sessions focused on information gathering (35 %), and providing medical (20 %) and genetics education (18 %). The 14 instances of storytelling we identified usually emerged during information gathering, genetics education, and the closing of the session. Stories illustrated parental efforts to create a cognitive and emotional context for their child's genetic diagnosis. Parents emerged as competent caregivers who discussed the role of the child as a social being in the family and the larger community. Our analysis found that genetic counseling sessions in the U.S. and Chile are structured similarly and although communication is not a balanced process, parents use storytelling to participate as active agents in the session. Via storytelling, we learned that parents are working to understand and gain control over their child's genetic diagnosis by relying on mechanisms that extend beyond the genetics appointment.
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http://dx.doi.org/10.1007/s10897-013-9620-4DOI Listing
December 2013

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Invest Ophthalmol Vis Sci 2012 Dec 13;53(13):8232-7. Epub 2012 Dec 13.

Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan 48105, USA.

Purpose: To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2.

Methods: Simplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood samples from a total of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis. The patients were screened for mutations in RPGR and RP2 by direct sequencing of PCR-amplified genomic DNA.

Results: We identified pathogenic mutations in 32 of the 214 patients screened (15%). Of the 29 patients with a diagnosis of COD/CORD, four mutations were identified in the ORF15 mutational hotspot of the RPGR gene. Of the 185 RP patients, three patients had mutations in RP2 and 25 had RPGR mutations (including 12 in the ORF15 region).

Conclusions: This study represents mutation screening of RPGR and RP2 in the largest cohort, to date, of simplex males affected with RP or COD/CORD. Our results demonstrate a substantial contribution of RPGR mutations to retinal degenerations, and in particular, to simplex RP. Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration.
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http://dx.doi.org/10.1167/iovs.12-11025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522443PMC
December 2012

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

Direct-to-consumer genetic testing: an assessment of genetic counselors' knowledge and beliefs.

Genet Med 2011 Apr;13(4):325-32

Center for Fetal Diagnosis and Therapy, Wayne State University Physician's Group, Detroit, MI 48201, USA.

Purpose: Direct-to-consumer genetic testing is a new means of obtaining genetic testing outside of a traditional clinical setting. This study assesses genetic counselors' experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics.

Methods: Members of the National Society of Genetic Counselors completed a web-administered survey in February 2008.

Results: Response rate was 36%; the final data analysis included 312 respondents. Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints.

Conclusions: Results indicate that genetic counselors have limited patient experiences with direct-to-consumer genetic testing and are cautiously considering if and under what circumstances this approach should be used.
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http://dx.doi.org/10.1097/GIM.0b013e3182011636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804135PMC
April 2011

Perceptions of licensure: a survey of Michigan genetic counselors.

J Genet Couns 2009 Aug 19;18(4):357-65. Epub 2009 May 19.

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

This study by the Michigan Genetic Counselor Licensure Committee is the first known published documentation of genetic counselors' beliefs and attitudes about licensure. The response rate from genetic counselors in Michigan was 66% (41/62). Ninety-five percent of respondents were supportive of licensure. Respondents believed licensure would legitimize genetic counseling as a distinct allied healthcare profession (97.5%), increase the public's protection (75%), and allow genetic counselors to practice independently (67%). While 45% felt licensure would increase counselor involvement in lawsuits, this did not impact licensure support (p = 0.744). Opinions were split regarding physician supervision and ordering tests. Even though 28% favored physician supervision, there was overwhelming support for genetic counselors performing some components of genetic testing (95%) and ordering some types of genetic tests (82%) independent of a physician. Use of this survey may be helpful in other states to assess genetic counselors' interest in licensure and for drafting legislation.
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http://dx.doi.org/10.1007/s10897-009-9225-0DOI Listing
August 2009

Molecular testing for hereditary retinal disease as part of clinical care.

Arch Ophthalmol 2007 Feb;125(2):252-8

Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA.

Objective: To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education.

Methods: Mutation analysis of 8 retinal genes was performed by dideoxy sequencing. Pretest and posttest genetic counseling was offered to patients. The laboratory report listed results and provided individualized interpretation.

Results: A total of 350 tests were performed. The molecular basis of disease was determined in 133 of 266 diagnostic tests; the disease-causing mutations were not identified in the remaining 133 diagnostic tests. Predictive and carrier tests were requested for 9 and 75 nonsymptomatic patients with known familial mutations, respectively.

Conclusions: Molecular testing can confirm a clinical diagnosis, identify carrier status, and confirm or rule out the presence of a familial mutation in nonsymptomatic at-risk relatives. Because causative mutations cannot be identified in all patients with retinal diseases, it is essential that patients are counseled before testing regarding the benefits and limitations of this emerging diagnostic tool.

Clinical Relevance: The molecular definition of the genetic basis of disease provides a unique adjunct to the clinical care of patients with hereditary retinal degenerations.
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http://dx.doi.org/10.1001/archopht.125.2.252DOI Listing
February 2007

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Vision Res 2006 Oct 1;46(22):3845-52. Epub 2006 Aug 1.

Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA.

A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, consistent with the notion of the existence of genetic and/or epigenetic disease modifiers.
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http://dx.doi.org/10.1016/j.visres.2006.06.011DOI Listing
October 2006