Rozprawy doktorskie: „Genetic counseling”

1

Reis, Linda M. "Spiritual Assessment in Genetic Counseling". University of Cincinnati / OhioLINK, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1090644974.

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Barnett, Chloe. "The Gendered Pay Gap in Genetic Counseling". University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1583998580304134.

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Somers, Allyson. "Provision of cardiovascular genetic counseling services: current practice and future directions". University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367924189.

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Williams, Misti D. "Collaborative Partnerships Between Genetic Counselors and Genetic Advocacy/Support Groups: The Genetic Counseling Perspective". Cincinnati, Ohio : University of Cincinnati, 2006. http://rave.ohiolink.edu/etdc//view?acc_num=ucin1151510578.

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Thesis (M.S.)--University of Cincinnati, 2006.
Advisor: Nancy Steinberg Warren. Title from electronic thesis title page (viewed July 17, 2009). Includes abstract. Keywords: Genetic advocacy, professional collaborations, genetic counseling, genetic; conditions, support groups. Includes bibliographical references.

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Salmon, Anderson Tricia. "Sickle Cell Trait and Genetic Counseling". ScholarWorks, 2017. https://scholarworks.waldenu.edu/dissertations/4020.

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Sickle cell trait (SCT) is a very prevalent disorder in the United States, especially among African Americans or people of African descent. However, even with the prevalence of the disorder, there are no standardized guidelines for providing patients with information about SCT and the implications of the disorder at physicals and well-check visits. The purpose of this evidence-based project was to increase awareness for African American patients 18-44 years old in the practice setting about SCT and to provide options for testing and genetic counseling. Kotter's contemporary change theory was used as a guide to implement the new practice approach. A quasi-experimental, single-group, pretest-posttest-only design was used to explore the relationship between providing consistent SCT education and the impact on the rate of SCT screening and genetic counseling. A total of 71 patients participated in the program. The analysis showed a significant (p < 0.001) mean difference of 18.16 points from the preintervention SCT and genetics test mean, which indicated that the intervention was successful in raising SCT and genetics knowledge scores among the target population. The results demonstrated that the implementation of SCT education in the practice setting can enhance social implications related to SCT awareness and opportunities for SCT testing and genetic counseling. The implementation of SCT clinical guidelines can help to increase awareness about SCT and improve the overall population health and reduce the financial burden affiliated with care of those with sickle cell disease and SCT complications.

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Wallace, Jody P. "Employability of Genetic Counselors with a PhD in Genetic Counseling". University of Cincinnati / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1179428260.

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Marbach, Rachel. "The frequency of spontaneously reported psychiatric disorders on pre-genetic counseling appointment intake forms and during counseling sessions". The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu158688292193696.

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Psensky, Brittany. "Factors Impacting Attendance of Patients with HCM for Cardiovascular Genetic Counseling". Case Western Reserve University School of Graduate Studies / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=case1339083273.

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Lahner, Nicole. "Assessment of Genetic Provider and Parent Communication Patterns in Pediatric Genetic Counseling Sessions". The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1460379299.

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Lewis, Courtney. "Genetics Laboratory Directors’ Perspectives on the Role of Genetic Counselors in Acquired Mutation Testing: Current and Expanded Opportunities". University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523134.

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Hayat, Roshanai Afsaneh. "Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer". Doctoral thesis, Uppsala universitet, Vårdvetenskap, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128870.

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The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. Participants (n=214) reported a relatively high level of anxiety but a low level of depression compared to cancer patients in general. However, there was no indication that the distress experienced was due to the counseling. Moderate changes in life and family relations, high level of adherence to recommended controls and satisfaction was reported. Study II was a randomized control trial (RCT) intervention study which involved 147 counselees. An increase in the level of knowledge and correct estimation of personal risk was reported in both the intervention and control groups, although this increase declined at later follow-up. Enhanced information led to significantly greater satisfaction with the given information, and the way of informing relatives. Most counselees had shared information with their at-risk relatives. Study III focused on sharing information with at-risk relatives among participants in study II and their relatives (n=81). Counselees were interviewed and answered a questionnaire, whilst their relatives only answered the questionnaire. Counselees reported positive/neutral feelings about communicating genetic information and mostly interpreted their relatives’ reactions as positive/ neutral. Also, approximately 50% of relatives reported positive/neutral reactions and were generally satisfied with the received information. Study IV was conducted in Sweden and Norway based on 235 counselees. Counselees expected counselors to be skillful and thoughtful, take them seriously and provide risk estimations and medical information. Most important issues to counselees were satisfactorily addressed by the counselors. Analyzing importance rankings resulted in five categories of needs: a need for facts, caring communication and medical information, need for understanding and support in sharing genetic information, practical care and medical/practical information. In conclusion, no adverse psychological or behavioral effect on counselees was observed. Apparently, genetic counseling is managed properly and counselors successfully address counselees’ needs. Providing extended information does not seem necessary, however, tailoring information to individual counselees needs may create a more effective counseling.

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Czape, Kayla. "Parent preferences regarding educational material and genetic counseling for hearing loss genetic testing". University of Cincinnati / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1276974727.

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Peplow, Katherine. "Discussions of Personal Identity in Genetic Counseling Supervision". University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623165916484682.

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Freeze, Samantha. "Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center". University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631.

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Usrey, Kelly Marie. "Complementary and alternativve medicine in genetic counseling". Oklahoma City : [s.n.], 2010.

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Smith, Jenny. "Impact of the word "counseling" on likelihood to schedule an appointment for genetic counseling". Cincinnati, Ohio : University of Cincinnati, 2005. http://www.ohiolink.edu/etd/view.cgi?acc%5Fnum=ucin1123171118.

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Thesis. (M.S.)--University of Cincinnati, 2005.
Title from electronic thesis title page (viewed Feb. 25, 2006). Includes abstract. Keywords: genetic counseling, genetic risk assessment, referral terminology, attitude, barriers. Includes bibliographical references.

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Masunga, Abigail N. "Barriers Impacting the Utilization of Supervision Techniques in Genetic Counseling". University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367919500.

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Deeney, Meghan. "Beginning genetic counselors' comfort level with grief and loss in the clinical setting". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23241.

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Serra, Juhé Clara 1984. "Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling". Doctoral thesis, Universitat Pompeu Fabra, 2012. http://hdl.handle.net/10803/96194.

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Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information regarding the outcome and prognosis of the anomaly, the development and establishment of diagnostic protocols, the design of therapeutic strategies and genetic counseling to the family. Different approaches have been used in the present thesis regarding technologies and model diseases to elucidate the contribution of genetic and epigenetic alterations in the etiopathogenesis of congenital malformations. Copy number variations, methylation patterns, as well as point mutations have been explored. Moreover, a study to analyze genetic counseling in relation to one of the new molecular techniques used has been performed. Obtained data reveal a relevant role of genetic and epigenetic alterations in congenital malformations, in some cases as a unique cause to explain the disease and in others as part of an oligogenic or multifactorial model.
Els mecanismes causants de les malformacions congènites són poc coneguts malgrat l’elevada incidència d’aquestes patologies, que afecten el 2-3% de recent nascuts. Un coneixement més ampli de les causes de les anomalies congènites proporcionaria informació rellevant pel que fa al pronòstic de l’anomalia, el desenvolupament i establiment de protocols diagnòstics, el disseny d’estratègies terapèutiques, així com l’assessorament genètic a la família. En la tesi que es presenta s’han utilitzat diferents estratègies, pel que fa a tecnologies i models de malalties, amb l’objectiu d’esbrinar la contribució d’alteracions genètiques i epigenètiques en l’etiopatogènia de les malformacions congènites. S’han analitzat variacions en número de còpia, patrons de metilació, així com mutacions puntuals. D’altra banda, també s’ha realitzat un estudi per aprofundir en l’assessorament genètic en relació a una de les noves tècniques moleculars utilitzades. Els resultats obtinguts indiquen que les altercacions genètiques i epigenètiques tenen una contribució molt rellevant en l’etiologia de les malformacions congènites, en alguns casos com a causa única de la malaltia i en altres com a component d’un model oligogènic o multifactorial.

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Feldman, Jessica S. "How Much We Tell Our Patients: Counseling Differences between Genetic Counselors and Other Providers". University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592135842556374.

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Smith, Marissa B. "A description of genetic counselors' views and current practice with regard to the use of array-CGH for prenatal diagnosis". Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1246977726.

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Schaber, Abigail Nicole. "Genetic Counseling and Testing in a Pediatric Population with Autism Spectrum Disorder (ASD)". The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu155490405885201.

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Winslow, Hayley R. "Pre- and Post-Test Parent Perceptions of Genetic Testing for Children with Autism Spectrum Disorder (ASD)". The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492505122437373.

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Lee, Sansan. "Genetic counseling perspectives on prenatal array CGH testing". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23259.

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Armstrong, Katherine B. "The Genetic Counseling Experience in a Multidisciplinary Childhood Cancer Survivor Center". University of Cincinnati / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337101530.

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Gaonkar, Shraddha. "Challenges in counseling for rare chromosome conditions genetic counselors' perspective /". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23239.

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Codina, i. Solà Marta 1988. "Genetic variation and complex rearrangements in Autism Spectrum Disorders: implications for genetic counseling". Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/388031.

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The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in spite of its strong genetic component. A greater knowledge of its genetic basis would result in many benefits, including specific genetic counseling for families and, eventually, the development of personalized therapeutic strategies. In this thesis, we have applied several recent sequencing technologies and adapted pipelines to its study. We have investigated the role of rare variants and its transcriptional consequences and explored the contribution of complex rearrangements to its missing heritability. In addition, we have studied second-hit susceptibility genetic factors in a group of individuals with Williams-Beuren syndrome, a genomic disorder associated with a mirror phenotype. Finally, we have explored parental knowledge and the effect of genetic counseling in affected families. Our results reveal that both highly penetrant mutations and inherited variants of milder effect contribute to its susceptibility, following monogenic and oligogenic or multifactorial models, respectively. Each of them may contribute to part of the variability and may explain a subset of cases.
Malgrat el fort component genètic dels Trastorns de l’Espectre Autista (TEA), l’etiologia de la majoria de casos es desconeix. Un major coneixement de les seves bases genètiques seria molt beneficiós, ja que permetria un assessorament genètic específic a les famílies i, a la llarga, el desenvolupament d’estratègies terapèutiques personalitzades. En aquesta tesis, s’han aplicat diverses tècniques recents de seqüenciació i estratègies d’anàlisi adaptades. S’ha investigat el paper de variants rares i les seves conseqüències transcripcionals, així com de reordenaments complexos. A més, hem estudiat la presència de variants de susceptibilitat en un grup de persones amb síndrome de Williams, un trastorn genòmic associat a un fenotip oposat. Finalment, hem explorat el coneixement i les opinions en un grup de famílies afectades i, també, l’efecte de l’assessorament genètic. Els resultats obtinguts indiquen que, en el TEA, hi contribueixen tant mutacions altament penetrants, com variants heretades que augmenten lleugerament el risc i poden seguir tant models monogènics com oligogènics. Cada un d’aquests models contribuiria a explicar part de la variabilitat i dels casos

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Lemons, Jennifer M. "“I didn’t know it existed until you called”: Protestant clergy experience and education of genetics". University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125947.

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Moore, Rebekah Ann. "Provision of Genetics Services: Is it Time to Embrace Social Media?" Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1404902803.

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Owens-Thomas, Elizabeth J. "Examining the Relationship Between Genetic Counseling Student Self-Efficacy and Clinical Training". University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522165895007472.

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Poskochil, Jamie. "Neurologists’ Practices and Attitudes Regarding Genetic Testing for Alzheimer Disease". University of Cincinnati / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1123729403.

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Jacher, Joseph E. B. A. "Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices, and Attitudes of Genetic Testing and Genetic Counseling". University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427797616.

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Melley, Caitlin. "Surgical fetal intervention assessing the current practices of genetic counselors /". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23321.

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Eshraghi, Marjan. "An exploration of the interplay between students' religious beliefs and their genetic counseling graduate training". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23211.

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Turner, Adam, i Adam Turner. ""Will My Baby Be Normal?": A History of Genetic Counseling in the United States, 1940-1970". Thesis, University of Oregon, 2012. http://hdl.handle.net/1794/12468.

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Genetic counselors today are at the forefront of helping clients interpret genetic information to help them make decisions, often about childbearing, based on testing and medical histories. Scholars of medicine, reproduction, and gender in the United States have traced the medicalization of pregnancy and interactions between parents and medical authorities. These works explore the interplay of medicine, society, and reproduction, but they do not address the history of genetic counseling. I argue that doctors and patients reciprocally shaped each other's thinking about reproduction in the mid-twentieth century. Parents' desires for normal, healthy children shaped the development of genetic counseling by motivating them to seek the services of genetic counselors. These prospective parents' expectations and desires had an outsized influence on the development of genetic counseling because counselors were sensitive to possible associations with eugenics and were careful not to tell parents what to do with the genetic information they provided.

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Ault, Rachel Marie. "Pitfalls of Communication in a Genetic Counseling Session when Two Languages are Required". The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492550859962531.

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Goldstein, Ellen Sara. "Estimating the Incidence of Germline Mutations in Patients with Bone and Soft Tissue Sarcoma using Clinical Tumor Sequencing". The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1592844958063832.

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Spaeth, Christine Grey. "Evidence for and Barriers to a Team-Based Approach for Genetic Services in Pediatric Healthcare Specialty Settings". University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1211913285.

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LaPan, Amy C. "Prenatal testing, birth outcomes, and views of social workers". online access from Digital Dissertation Consortium, 2005. http://libweb.cityu.edu.hk/cgi-bin/er/db/ddcdiss.pl?3202790.

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Van, Niekerk Katryn. "Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town". Master's thesis, University of Cape Town, 2015. http://hdl.handle.net/11427/16652.

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Includes bibliographical references
Sickle Cell Disease (SCD) is an autosomal recessively inherited blood disorder that leads to a debilitating systemic illness. Although the disease was initially found predominantly in tropical and subtropical regions, SCD has now become a global health problem, due to migration of people from various countries with a high burden thereof. Consequently, the incidence of SCD in South Africa has increased dramatically over the last decade. This study, which constitutes a minor dissertation in fulfilment of an MSc (Med) Genetic Counselling degree, aimed to explore the knowledge and understanding of SCD among parents of affected children in Cape Town as well as identify burdens associated with caring for a child with SCD. Furthermore, the study assessed opportunities to improve genetic counselling services available to parents and explored their attitude to preventive policies. A phenomenological approach was used to conduct this research. Seventeen semi-structured interviews were conducted with the biological parent of a child attending the Red Cross War Memorial Children's Hospital Haematology Clinic. Participants were selected using both purposive and convenience sampling methods. Data collected during these interviews were analysed using thematic content analysis. Themes and relevant sub-themes were identified and grouped into three categories: knowledge and understanding; experiences and burdens; and attitude toward preventative policies. While the majority of participants had some knowledge of SCD, several misconceptions were discovered, often relating to participants' prior knowledge of the disease. A number of burdens experienced by participants were revealed, with both practical and psychosocial implications. Finally, it was found that the majority of participants supported all methods of screening for SCD, regardless of whether they would make use of the screening services themselves. Findings of this study provide valuable insights on the subject of experiences of parents of children affected with SCD as well as the potential role of genetic counselling services. This study contributes towards improving understanding and subsequent services provided to individuals raising a child affected with Sickle Cell Disease.

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Francois, Sydney. "Investigating the views and experiences of Fetal Medicine Practitioners offering late termination of pregnancy in the Western Cape". Master's thesis, Faculty of Health Sciences, 2021. http://hdl.handle.net/11427/33748.

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Introduction: Fetal medicine practitioners (FMPs) are responsible for making decisions about the appropriateness of a late termination of pregnancy (LTOP) based on their assessment of the severity of the prenatal diagnosis while also taking into account the practical, legal and ethical aspects. This study aimed to investigate the views and experiences of FMPs involved in LTOP decision-making in the Western Cape and how these views may guide decisions to offer LTOP. Specifically, the research questions guiding this study aimed to investigate FMPs views on the Choice on Termination of Pregnancy Act (CTOPA), No. 92 of 1996, as well as their attitudes towards the provision and ethics of LTOP. Methodology: A total of six semi-structured, individual face-to-face interviews were conducted between February and March 2020 in the privacy of the participant's office. All interviews were audio-recorded and transcribed. Interpretive phenomenological analysis was used as a framework to analyse the data and transcripts were managed using NVivo 12 software. Results and Discussion: Participants believed that the CTOPA is based on the principle of gradualism and that while women have reproductive choice, TOP becomes progressively restricted as gestation advances to protect the fetus. However, they felt that the specified cut-offs in the CTOPA are arbitrary and open to interpretation and believed there is a need for further documentation to guide practitioners as to which conditions should be considered for LTOP. When making a decision to offer LTOP, participants considered various factors including fetal age, whether a feticide was required and the prognosis. Participants considered that conditions which qualified as severe were untreatable and would have a significant, long-term negative impact on the individual's functioning and quality of life. When considering acceptability of LTOP, participants felt that LTOP was justified to prevent suffering for both the future child and for the parents. However, participants did not believe that LTOP was justified to prevent all disability. Lastly, participants valued societal consensus when making morally demanding decisions and believed that decisions around LTOP needed to be made by multidisciplinary teams to ensure objectivity, as well as to share the moral burden.

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Allsbrook, Katlin. "The Relationship Between the Supervision Role to Compassion Fatigue and Burnout in Genetic Counseling". University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427981369.

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Nardini, Monica. "Genomic Counseling in the Newborn Period: Are Genetic Counselors Ready?" Case Western Reserve University School of Graduate Studies / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=case1372778934.

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Shuss, Christine M. "Supervisory Styles and Satisfaction: Genetic Counseling Student and Graduate Views". Case Western Reserve University School of Graduate Studies / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=case1341591706.

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Byrne, Karen Elizabeth. "ANALYSIS OF PATIENTS' REACTIONS TO GENETIC COUNSELING SERVICES FOR AMNIOCENTESIS AND GENETIC DISORDERS (VIDEOTAPE PROGRAM, FOLLOW-UP LETTERS, MATERNAL AGE)". Thesis, The University of Arizona, 1985. http://hdl.handle.net/10150/275301.

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James, Delores C. S. "A survey of genetic counseling professionals in the southeastern United States actual versus perceived roles /". Gainesville, FL, 1993. http://www.archive.org/details/surveyofgeneticc00jame.

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Kelly, Anke. "Multicultural genetic counseling with Alaska native and Canadian first nations clients". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23191.

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Knyszek, Brittney Lynn. "The Impact of Visual Aids on Prenatal Genetic Counseling Session Patient Outcomes". Case Western Reserve University School of Graduate Studies / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=case1338515186.

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Muller, Reka D. "Evaluation of Clinical Practices and Needs about Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes". Scholar Commons, 2019. https://scholarcommons.usf.edu/etd/7863.

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The increasing numbers of genetic tests in clinical settings have identified many variants of uncertain significance (VUS) in genes associated with inherited cardiac arrhythmias and inherited cardiomyopathies. Evaluation of clinical practices including counseling strategies and medical management recommendations for patients and their families is important to improve patient outcomes and prevent over- or under-treatment that may result in morbidity or fatality. The purpose of this study is to describe provider practices related to VUS results including how they conduct risk assessments and ascertain what information and medical management recommendations they provide to patients with VUS results and the patients’ family members. Additionally, we aim to describe providers’ concerns and informational needs related to counseling about a VUS. An anonymous online survey was developed for the current study and distributed to genetic counselors through the National Society of Genetic Counselors (NSGC) listerv and to cardiologists via emails obtained from publicly available resources. The survey explored healthcare providers’ confidence in counseling about a VUS, explanation of a VUS to patients, topics covered before and after genetic testing, and recommendations for patients with a VUS and their families using clinical vignettes. Providers (N=102) who completed the survey included 29 cardiovascular genetic counselors, 50 genetic counselors from other specialties, and 23 cardiologists. A hypothetical clinical scenario was used in which a young adult patient had a VUS in a gene causing Arrhythmogenic Right Ventricular Cardiomyopathy, but did not meet clinical diagnostic criteria for the condition. The patient’s only concerning issues included a personal history of fainting during exercising and sudden death of a 45 year old first-degree relative. Nearly 9% of all providers incorrectly described the VUS as likely pathogenic, while 15% would downplay the finding by indicating the VUS is more likely to eventually be reclassified as benign. Genetic counselors feel more confident about counseling about VUS results (p<0.001). Both cardiovascular genetic counselors and cardiologists feel confident in making medical management recommendations; however, cardiologists are more likely to recommend treatment with beta-blockers and exercise limitation for the patient. Compared to cardiac genetic counselors, other genetic counselors (p=0.001) and cardiologists (p=0.014) were more likely to recommend clinical testing for family members even though testing is expected to be uninformative, especially given the absence of any clinical diagnosis in the family. These findings highlight the expertise of different providers in different specialty area and suggest the need for interdisciplinary clinics that include cardiologists, cardiac genetic counselors, nurses, geneticists, psychologists and others to optimize care for challenging cases where VUS results create uncertainty.

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Nightingale, Brooke Moriarty. "Development of a Genetic Testing Report Supplement for Patients with Hypertrophic Cardiomyopathy Who Receive Uninformative Results". The Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523463438552511.

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