1,679 results match your criteria Journal of Genetic Counseling [Journal]


Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.

J Genet Couns 2019 Feb 19. Epub 2019 Feb 19.

Australian Genomics Health Alliance, Melbourne, VIC, Australia.

We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals to provide genomic medicine. An online survey was administered to individuals with genetic counseling or clinical genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, and genetic versus genomic clinical practice. Read More

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http://dx.doi.org/10.1002/jgc4.1101DOI Listing
February 2019

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.

J Genet Couns 2019 Feb 18. Epub 2019 Feb 18.

Melbourne Genomics Health Alliance, Melbourne, Australia.

Internationally, the practice of offering additional findings (AFs) when undertaking a clinically indicated genomic test differs. In the USA, the recommendation is to include analysis for AFs alongside diagnostic analysis, unless a patient opts-out, whereas European and Canadian guidelines recommend opt-in models. These guidelines all consider the offer of AFs as an activity concurrent with the offer of diagnostic testing. Read More

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http://dx.doi.org/10.1002/jgc4.1102DOI Listing
February 2019

Lexigene®: An online medical genetics translation tool to facilitate communication.

J Genet Couns 2019 Feb 15. Epub 2019 Feb 15.

Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, Canada.

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http://dx.doi.org/10.1002/jgc4.1099DOI Listing
February 2019

Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic.

J Genet Couns 2019 Feb 14. Epub 2019 Feb 14.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

Whole exome sequencing (WES) has become a fundamental component of genetic evaluation and diagnosing rare genetic diseases. This test is now offered to patients from a wide variety of cultural backgrounds and in various clinical and research settings. This commentary is a reflection of one group of clinical genetic counselors' experiences in facilitating WES for patients who come from outside the United States for genetic evaluation and pursue WES. Read More

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http://dx.doi.org/10.1002/jgc4.1100DOI Listing
February 2019

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study.

J Genet Couns 2019 Feb 11. Epub 2019 Feb 11.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. Read More

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http://dx.doi.org/10.1002/jgc4.1076DOI Listing
February 2019

Factors complicating the informed consent process for whole exome sequencing in neonatal and pediatic intensive care units.

J Genet Couns 2019 Feb 8. Epub 2019 Feb 8.

Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia.

Whole exome and whole genome sequencing (WES/WGS) is increasingly utilized in inpatient settings such as neonatal and pediatric intensive care units (ICU), but no research has explored the process of informed consent in this setting. My experience as an inpatient genetic counselor has illuminated factors unique to the ICU that may threaten elements of informed consent such as voluntariness, disclosure, understanding, and capacity. I present three cases that exemplify elements complicating consent counseling for WES/WGS in the ICU, including the emotional state of the parents, involvements of other healthcare providers, environmental distractions and competing clinical priorities. Read More

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http://dx.doi.org/10.1002/jgc4.1097DOI Listing
February 2019
1 Read

Cancer genetic counselors' experiences with transgender patients: A qualitative study.

J Genet Couns 2019 Feb 5. Epub 2019 Feb 5.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Read More

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http://dx.doi.org/10.1002/jgc4.1092DOI Listing
February 2019
1 Read

Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results.

J Genet Couns 2019 Feb 2. Epub 2019 Feb 2.

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

Rationales for returning results from whole genome sequencing (WGS) and genetic testing have historically focused on medical utility. Understanding the wide array of actions individuals might take following genetic testing results could have important implications for clinical care. We aimed to survey the public regarding their perceptions of the importance of a wide variety of different actions one might take upon receiving hypothetical results from a WGS test where the results indicate a high risk of developing a genetic condition. Read More

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http://dx.doi.org/10.1002/jgc4.1048DOI Listing
February 2019

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

J Genet Couns 2019 Feb 1. Epub 2019 Feb 1.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencing in clinical care has expanded the reach and diversity of genetic testing. Regardless of the setting where genetic counselors are performing variant interpretation or reporting, most of them have learned these skills from colleagues, while on the job. Read More

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http://dx.doi.org/10.1002/jgc4.1094DOI Listing
February 2019

Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?

J Genet Couns 2019 Feb 1. Epub 2019 Feb 1.

Department of Medicine, University of Virginia, Charlottesville, Virginia.

Historically in cancer genetic counseling, when a pathogenic variant is found which explains the cancers in the family, at risk family members are offered site-specific testing to identify whether or not they have the previously identified pathogenic variant. Factors such as turnaround times, cost, and insurance coverage all made site-specific testing the most appropriate testing option; however, as turnaround times and costs have substantially dropped and the recognition of double heterozygous families and families with nontraditional presentations has increased, the utility of site-specific testing should be questioned. We present four cases where ordering site-specific testing would have missed a clinically relevant pathogenic variant which raises the question of whether or not site-specific testing should be regularly used in cancer genetic testing. Read More

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http://dx.doi.org/10.1002/jgc4.1044DOI Listing
February 2019

An examination of the factors contributing to the expansion of subspecialty genetic counseling.

J Genet Couns 2019 Feb 1. Epub 2019 Feb 1.

MS Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, North Carolina.

In recent years, genetic counselors have moved into increasingly varied areas of patient care. Yet limited information is known about how these genetic counselors transitioned from more general clinical practice to subspecialized practice. This study was designed to answer three research questions: (1) What common factors establish a need for a genetic counselor in a subspecialty setting? (2) How do genetic counselors in subspecialties establish their positions? (3) Once established, how do the positions of these genetic counselors evolve as the subspecialty expands? Phone interviews with subspecialized genetic counselors led to the development of an online survey distributed through the National Society of Genetic Counselors ListServ. Read More

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http://dx.doi.org/10.1002/jgc4.1077DOI Listing
February 2019

Talking across generations: Family communication about BRCA1 and BRCA2 genetic cancer risk.

J Genet Couns 2019 Jan 29. Epub 2019 Jan 29.

Behavioral Sciences Unit Proudly Supported by the Kids with Cancer Foundation, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia.

While family communication about a BRCA1 or BRCA2 (BRCA1/2) pathogenic variant can be a catalyst for the uptake of risk-reducing measures in young adults, disseminating information within families and across generations is complex. This study aimed to explore how young adults and their families communicate about a BRCA1/2 pathogenic variant, from a family systems perspective. In-depth family interviews and questionnaires (N = 67 individuals; 21 families) were completed at four metropolitan and regional genetic clinics in Australia. Read More

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http://dx.doi.org/10.1002/jgc4.1055DOI Listing
January 2019
1 Read

Attitudes of clinicians toward cardiac surgery and trisomy 18.

J Genet Couns 2019 Jan 28. Epub 2019 Jan 28.

Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at Houston, Houston, Texas.

Trisomy 18 is an autosomal trisomy condition characterized by minor to major birth defects, severe disabilities, and high rates of pre- and postnatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding corrective surgery of congenital heart defects, which is a birth defect that occurs in approximately 90% of infants with trisomy 18, is of our study's interest as recent literature has indicated that cardiac surgery is being performed and may lead to improved survival compared to palliative care. Read More

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http://dx.doi.org/10.1002/jgc4.1089DOI Listing
January 2019

Assessing genetic counselors' experiences with physician aid-in-dying and practice implications.

J Genet Couns 2019 Feb 28;28(1):164-173. Epub 2019 Jan 28.

Stanford Center for Biomedical Ethics, Stanford University, Stanford, California.

Physician aid-in-dying (PAD) is now legalized in more than half a dozen states across the United States yet remains controversial among health care providers and the general public. Previous studies have described physicians' and nurses' experiences with and attitudes about PAD; however, there is no data about PAD in the context of genetic counseling. This study explores genetic counselors' experiences, understanding, training, and perspectives about PAD. Read More

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http://dx.doi.org/10.1002/jgc4.1047DOI Listing
February 2019

Trans-counseling: A case series of transgender individuals at high risk for BRCA1 pathogenic variants.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.

Transgender individuals comprise a growing patient population in genetic counseling practice. The identification of a pathogenic variant in a cancer susceptibility gene may impact a transgender person's decisions regarding hormonal and/or surgical transition. Limited scientific literature exists on specific genetic counseling needs and medical management strategies for transgender individuals. Read More

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http://doi.wiley.com/10.1002/jgc4.1046
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http://dx.doi.org/10.1002/jgc4.1046DOI Listing
January 2019
4 Reads

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Department of Human Genetics, University of California, Los Angeles, California.

The "diagnostic odyssey" is well known and described in genetic counseling literature. Studies addressing the psychological, emotional, and financial costs of not having a diagnosis have shown how it permeates the lives of patients and families. The Undiagnosed Diseases Network aims to end this odyssey by providing diagnoses to individuals with undiagnosed conditions through multidisciplinary evaluations, whole exome and genome sequencing, and basic science research. Read More

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http://doi.wiley.com/10.1002/jgc4.1091
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http://dx.doi.org/10.1002/jgc4.1091DOI Listing
January 2019
6 Reads

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland.

Despite its promising diagnostic yield, whole exome sequencing (WES) frequently introduces variant(s) of uncertain significance (VUS), which have been speculated to cause parental stress and anxiety. This study aimed to explore the psychosocial impact of receiving a VUS from pediatric WES on caregivers and to identify implications for clinical practice. Fourteen telephone interviews were conducted with parents or legal guardians who received VUS results from their child's WES to assess their understanding of the result, affective responses, perceived impact, and adaptation. Read More

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http://dx.doi.org/10.1002/jgc4.1093DOI Listing
January 2019
1 Read

The impact of cardiovascular genetic counseling on patient empowerment.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

Cardiovascular genetic counseling (CVGC) is recommended for a variety of inherited heart conditions; however, its impact on patient empowerment has not been assessed. The Genetic Counseling Outcome Scale (GCOS) is a validated patient reported outcome tool which measures empowerment to capture the impact of clinical genetics services. As a routine clinical practice at our center, adult patients attending a CVGC appointment complete the 24-item GCOS survey and a 5-item survey on knowledge of cardiac surveillance recommendations for relatives prior to the clinic visit. Read More

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http://dx.doi.org/10.1002/jgc4.1050DOI Listing
January 2019

Genetic Literacy of pregnant women and their use of prenatal screening and diagnostic tests in Turkey.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Koç University School of Nursing, İstanbul, Turkey.

This study evaluated how genetic literacy of pregnant women in Turkey affects their use of prenatal screening and diagnostic tests. As a descriptive cross-sectional study, a Participant Identification Form and the Genetic literacy and Comprehension Measure (GLAC) were used to collect data. The sample of study consisted of 189 pregnant women who made regular antenatal care visits in Giresun, Turkey. Read More

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http://dx.doi.org/10.1002/jgc4.1082DOI Listing
January 2019

Factors affecting breast cancer patients' need for genetic risk information: From information insufficiency to information need.

J Genet Couns 2019 Jan 24. Epub 2019 Jan 24.

Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.

Information-seeking models typically focus on information-seeking behaviors based on individuals' interest in information, because their current level is perceived to be insufficient. In the context of genetic risk information (GRI), however, information insufficiency is difficult to measure and thus can limit understanding of information behavior in the context of GRI. We propose that an individual's need for information might be a more direct and conceptually clearer alternative to predicting their information-seeking behavior. Read More

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http://dx.doi.org/10.1002/jgc4.1087DOI Listing
January 2019
3 Reads

Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: Systematic review.

J Genet Couns 2019 Jan 21. Epub 2019 Jan 21.

Department of Family and Community Medicine, Meharry Medical College, Nashville, Tennessee.

Precision medicine has grown over the past 20 years with the availability of genetic tests and has changed the one-size-fits-all paradigm in medicine. Precision medicine innovations, such as newly available genetic tests, could potentially widen racial and ethnic disparities if access to them is unequal and if interest to use them differs across groups. The objective of this systematic review was to synthesize existing evidence on racial and ethnic differences in knowledge of and attitudes toward genetic testing among adult patients and the general public in the US, focusing on research about the use of genetic testing in general, not disease-specific tests. Read More

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http://dx.doi.org/10.1002/jgc4.1078DOI Listing
January 2019
2 Reads

Evaluation of National Comprehensive Cancer Network guideline-based Tool for Risk Assessment for breast and ovarian Cancer (N-TRAC): A patient-reported survey for genetic high-risk assessment for breast and ovarian cancers in women.

J Genet Couns 2019 Jan 21. Epub 2019 Jan 21.

Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California.

Identification of mutations that increase lifetime risk of breast and ovarian cancer is critical to improving women's health. Because these mutations are relatively rare in the general population, there is a need for efficient methods to identify appropriate women to undergo genetic testing. The objective of this study was to assess the feasibility, accuracy, and performance of the NCCN guideline-based Tool for Risk Assessment for breast and ovarian Cancer (N-TRAC)-a patient-facing assessment for those affected and unaffected by cancer. Read More

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http://doi.wiley.com/10.1002/jgc4.1051
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http://dx.doi.org/10.1002/jgc4.1051DOI Listing
January 2019
6 Reads

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.

J Genet Couns 2019 Jan 21. Epub 2019 Jan 21.

Australian Genomics Health Alliance, Melbourne, Australia.

As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological and bioinformatic advancements, along with the availability of analytical expertise, have significantly reduced genomic sequencing turnaround times, enabling this powerful diagnostic tool to be used in neonatal intensive care units (NICUs) in place of or alongside traditional diagnostic strategies. It is important that pretest counseling for genomic sequencing prepares parents of critically unwell infants for the potential impacts of achieving a diagnosis, such as rare or ultra-rare diagnoses with limited disease-specific information, or the diagnosis of a life-limiting condition. Read More

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http://dx.doi.org/10.1002/jgc4.1086DOI Listing
January 2019
2 Reads

Using the diffusion of innovations model to guide participant engagement in the genomics era.

J Genet Couns 2019 Jan 17. Epub 2019 Jan 17.

Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, Missouri.

Exome and genome sequencing (EGS) are increasingly the genetic testing modalities of choice among researchers owing to their ready availability, low cost, and large data output. Recruitment of larger, more diverse cohorts into long-term studies with extensive data collection is fundamental to the success of EGS research and to the widespread benefit of genomic medicine to various populations. Effective engagement will be critical to meeting this demand. Read More

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http://dx.doi.org/10.1002/jgc4.1090DOI Listing
January 2019
2 Reads

Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.

J Genet Couns 2019 Jan 16. Epub 2019 Jan 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Whole exome sequencing (WES) is expected to impact patient management, but data surrounding the types of downstream effects and how frequently these effects are observed depending on the type of WES results received is limited. This study investigated changes to medical management and genetic counseling (GC) options following WES for individuals with positive and negative results. Electronic medical records of patients who had positive (n = 37) or negative (n = 41) WES results from Cincinnati Children's Hospital were retrospectively reviewed. Read More

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http://dx.doi.org/10.1002/jgc4.1054DOI Listing
January 2019
1 Read

The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome.

J Genet Couns 2019 Jan 14. Epub 2019 Jan 14.

Department of Psychology, Ryerson University, Toronto, ON, Canada.

This study examined the differences in perceptions of one's health and one's child's health between parents with Lynch syndrome (LS) characterized with high versus low health anxiety. Twenty-one parents completed semistructured telephone interviews about their perceptions of their own health and the health of their children. Qualitative content analysis using a template coding approach examined the differences between parents with high and low health anxiety. Read More

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http://dx.doi.org/10.1002/jgc4.1043DOI Listing
January 2019
1 Read

Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.

J Genet Couns 2019 Jan 12. Epub 2019 Jan 12.

Department of Bioethics and Humanities, University of Washington, Seattle, Washington.

Variants of uncertain significance (VUS) are a well-recognized source of uncertainty in genomic medicine. Despite the existence of straightforward clinical management recommendations, patients report feeling anxiety, worry, and uncertainty in response to VUS. We report the first structured analysis of patient perspectives of VUS-related uncertainty in genome sequencing using Han's taxonomy of genomic uncertainty. Read More

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http://dx.doi.org/10.1002/jgc4.1075DOI Listing
January 2019
2 Reads

Indigenous Peoples and genomics: Starting a conversation.

J Genet Couns 2018 Dec 14. Epub 2018 Dec 14.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Compared to European ancestral groups, Indigenous Canadians are more likely to have uninterpretable genome-wide sequencing results due to non-representation in reference databases. We began a conversation with Indigenous Canadians to raise awareness and give voice to this issue. We co-created a video explaining genomic non-representation that included diverse Indigenous view-points. Read More

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http://doi.wiley.com/10.1002/jgc4.1073
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http://dx.doi.org/10.1002/jgc4.1073DOI Listing
December 2018
5 Reads

Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.

J Genet Couns 2018 Dec 21. Epub 2018 Dec 21.

Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.

A nationwide pretest-posttest study was conducted in all clinical genetic centres in the Netherlands, to evaluate the effects of an online decision aid to support persons who have a genetic predisposition to cancer and their partners in making an informed decision regarding reproductive options. Main outcomes (decisional conflict, knowledge, realistic expectations, level of deliberation, and decision self-efficacy) were measured before use (T0), immediately after use (T1), and at 2 weeks (T2) after use of the decision aid. Paired sample t tests were used to compute differences between the first and subsequent measurements. Read More

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http://doi.wiley.com/10.1002/jgc4.1056
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http://dx.doi.org/10.1002/jgc4.1056DOI Listing
December 2018
8 Reads

Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners.

J Genet Couns 2018 Dec 15. Epub 2018 Dec 15.

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.

Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Read More

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http://dx.doi.org/10.1002/jgc4.1053DOI Listing
December 2018
1 Read

Patient decision-making and the role of the prenatal genetic counselor: An exploratory study.

J Genet Couns 2019 Feb 15;28(1):155-163. Epub 2018 Dec 15.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Despite much theory about how genetic counseling facilitates prenatal decision-making, there are limited data regarding patients' perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients' perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision-making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy. Read More

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http://dx.doi.org/10.1002/jgc4.1049DOI Listing
February 2019
1 Read

Genetic counselor workflow study: The times are they a-changin'?

J Genet Couns 2019 Feb 10;28(1):130-140. Epub 2018 Dec 10.

Genetic Counseling Program, Wayne State University School of Medicine, Detroit, Michigan.

Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face-to-face with patients in comparison to the time spent on patient-related activities (PRA). We aimed to perform a real-time workflow study of GCs representing multiple clinics and specialties. Read More

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http://dx.doi.org/10.1002/jgc4.1041DOI Listing
February 2019
1 Read

"I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.

J Genet Couns 2019 Feb 24;28(1):141-154. Epub 2018 Dec 24.

Warwick Medical School, Coventry, UK.

Members of the public face particular challenges when undergoing reproductive genetic screening. Lack of family history with genetic disease has been identified as a key barrier affecting screening uptake and responses to genetic risk. This study explores this obstacle using beta thalassaemia as a case study. Read More

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http://dx.doi.org/10.1002/jgc4.1042DOI Listing
February 2019
10 Reads

Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.

J Genet Couns 2018 Dec 12. Epub 2018 Dec 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

Whole exome sequencing (WES) for prenatal diagnosis has a reported diagnostic yield of 6.2%-57%. Our aim was to identify patients with a high likelihood of genetic diagnosis using WES in cases with fetal ultrasound anomalies. Read More

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http://dx.doi.org/10.1002/jgc4.1045DOI Listing
December 2018
1 Read

Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations.

J Genet Couns 2018 Sep 15. Epub 2018 Sep 15.

Stanford Center for Inherited Cardiovascular Disease, Stanford Healthcare, Stanford, CA, USA.

Individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) are advised to avoid certain forms of exercise to reduce their risk of sudden death. Cardiovascular genetic counselors facilitate both adaptation to, and decision-making about, these exercise recommendations. This study describes decision-making and experiences of active adults who exercise above physicians' recommendations. Read More

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http://dx.doi.org/10.1007/s10897-018-0297-6DOI Listing
September 2018
6 Reads

Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard.

J Genet Couns 2018 Sep 7. Epub 2018 Sep 7.

Center for Bioethics and Social Sciences in Medicine, University of Michigan Medical School, 2800 Plymouth Road, Building 14, G016, Ann Arbor, MI, 48109-2800, USA.

In genomic medicine, the familiarity and inexactness of the term "actionable" can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term "medically actionable" in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term "medically actionable. Read More

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http://link.springer.com/10.1007/s10897-018-0289-6
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http://dx.doi.org/10.1007/s10897-018-0289-6DOI Listing
September 2018
15 Reads

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

J Genet Couns 2018 Sep 5. Epub 2018 Sep 5.

Centre for Clinical Genetics, Sydney Children's Hospital, High St., Randwick, Sydney, NSW, 2031, Australia.

The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions. Semi-structured interviews with 21 consanguineous couples were conducted prior to the offer of screening. Interviews were coded, and thematic analysis was informed by an inductive approach. Read More

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http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
September 2018
3 Reads

The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation.

J Genet Couns 2018 Sep 1. Epub 2018 Sep 1.

Department of Health Services, School of Public Health, University of Washington, Box 357660, Seattle, WA, 98195-7660, USA.

The purpose of this study was to develop a brief instrument, the Feelings About genomiC Testing Results (FACToR), to measure the psychosocial impact of returning genomic findings to patients in research and clinical practice. To create the FACToR, we modified and augmented the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire based on findings from a literature review, two focus groups (N = 12), and cognitive interviews (N = 6). We evaluated data from 122 participants referred for evaluation for inherited colorectal cancer or polyposis from the New EXome Technology in (NEXT) Medicine Study, an RCT of exome sequencing versus usual care. Read More

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http://link.springer.com/10.1007/s10897-018-0286-9
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http://dx.doi.org/10.1007/s10897-018-0286-9DOI Listing
September 2018
9 Reads

Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana.

J Genet Couns 2018 Sep 1. Epub 2018 Sep 1.

Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, 747 52nd Street, Oakland, CA, 94609, USA.

Sickle cell disease (SCD) is highly prevalent in Africa with a significant public health burden for under-resourced countries. We employed qualitative research methods to understand the ethical, legal, and social implications of conducting genomic research in SCD under the Human Heredity and Health in Africa (H3Africa) initiative. The present study focused on religious and cultural aspects of SCD with the view to identifying beliefs and attitudes relevant to public health interventions in Ghana. Read More

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http://dx.doi.org/10.1007/s10897-018-0296-7DOI Listing
September 2018
9 Reads

Genetic Counselors' and Genetic Counseling Students' Implicit and Explicit Attitudes toward Homosexuality.

J Genet Couns 2019 Feb 16;28(1):91-101. Epub 2019 Jan 16.

Division of Nephrology, Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.

Members of the lesbian, gay, and bisexual (LGB) community experience significant health disparities. Widespread preferences for heterosexual over homosexual people among healthcare providers are believed to contribute to this inequity, making recognition (and ultimately reduction) of healthcare providers' sexual prejudices of import. The present study sought to characterize North American genetic counselors' and genetic counseling students' implicit and explicit attitudes toward homosexuality. Read More

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http://dx.doi.org/10.1007/s10897-018-0295-8DOI Listing
February 2019
27 Reads

Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.

J Genet Couns 2018 Aug 21. Epub 2018 Aug 21.

Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.

Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC. Read More

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http://dx.doi.org/10.1007/s10897-018-0293-xDOI Listing
August 2018
3 Reads

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

J Genet Couns 2018 Aug 21. Epub 2018 Aug 21.

School of Nursing, University of British Columbia, T201 - 2211 Wesbrook Mall, Vancouver, BC, V6T 2B5, Canada.

A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently unique, collectively, these conditions are quite common. Many rare diseases are diagnosed during childhood, and therefore parents become primary caregivers in addition to their parental role. Despite the prevalence of rare diseases among children, there has been little research focused on parents' experiences of navigating the healthcare system, a gap we begin to address in this study. Read More

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http://dx.doi.org/10.1007/s10897-018-0294-9DOI Listing
August 2018
18 Reads

Undergraduate Student Perceptions and Awareness of Genetic Counseling.

J Genet Couns 2018 Aug 19. Epub 2018 Aug 19.

Genetic Counseling Program, The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

Genetic counseling is a rapidly expanding field, and the supply of certified genetic counselors is currently unable to keep up with job demand. Research is fairly limited regarding the awareness and perceptions that prospective genetic counseling students have on the field and what factors most influence their interest. The current study includes data collected from 1389 undergraduate students in the sciences at 23 universities across the United States who were surveyed regarding information related to their awareness, perceptions, knowledge, and interest in genetic counseling. Read More

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http://link.springer.com/10.1007/s10897-018-0284-y
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http://dx.doi.org/10.1007/s10897-018-0284-yDOI Listing
August 2018
9 Reads

All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation.

J Genet Couns 2018 Dec 16;27(6):1515-1522. Epub 2018 Aug 16.

Department of Pediatrics Division of Cardiology, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.

Clinical genetics services continue to expand into diverse medical specialties. An ever-increasing number of non-genetics providers are independently ordering genetic tests, interpreting results, and at times, making diagnoses leading to patient care recommendations. Non-genetics healthcare providers can help increase patient access to these services, but a potential pitfall occurs when these providers either do not have adequate expertise with genetic variant interpretation or do not have access to multi-disciplinary teams including genetic counselors or clinical geneticists for advanced review. Read More

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http://dx.doi.org/10.1007/s10897-018-0287-8DOI Listing
December 2018
13 Reads

Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study.

J Genet Couns 2018 Aug 15. Epub 2018 Aug 15.

Department of Social Research, University of Helsinki, Unioninkatu 37, P.O. Box 54, 00014, Helsinki, Finland.

Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics' perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Read More

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http://dx.doi.org/10.1007/s10897-018-0288-7DOI Listing
August 2018
3 Reads

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center.

J Genet Couns 2018 Aug 14. Epub 2018 Aug 14.

Department of Genetics, Cell Biology, and Development, University of Minnesota, 6-160 Jackson Hall, 321 Church St SE, Minneapolis, MN, 55455, USA.

Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Read More

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http://dx.doi.org/10.1007/s10897-018-0290-0DOI Listing
August 2018
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Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors.

J Genet Couns 2018 Aug 14. Epub 2018 Aug 14.

Department of Family Medicine and Emergency Medicine, Université Laval, Québec, Canada.

Shared decision-making (SDM) is a collaborative approach in which clinicians educate, support, and guide patients as they make informed, value-congruent decisions. SDM improves patients' health-related outcomes through increasing knowledge, reducing decisional conflict, and enhancing experience of care. We measured SDM in genetic counselling appointments with 27 pregnant women who were at increased risk to have a baby with a genetic abnormality. Read More

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http://dx.doi.org/10.1007/s10897-018-0285-xDOI Listing
August 2018
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Precision Medicine: Familiarity, Perceived Health Drivers, and Genetic Testing Considerations Across Health Literacy Levels in a Diverse Sample.

J Genet Couns 2018 Aug 13. Epub 2018 Aug 13.

Center for Clinical Quality and Implementation Research, Vanderbilt University Medical Center, Nashville, TN, USA.

A clear awareness of a patient's knowledge, values, and perspectives is an important component of effective genetic counseling. Advances in precision medicine, however, have outpaced our understanding of patient perceptions of this new approach. Patient views may differ across the three domains of precision medicine (genetics, behavioral, and environmental determinants of health), ethnic/racial groups, and health literacy levels. Read More

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http://dx.doi.org/10.1007/s10897-018-0291-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374217PMC
August 2018
3 Reads

Effects of Genetic Counselor Self-Disclosure: an Experimental Analog Study.

J Genet Couns 2018 Aug 8. Epub 2018 Aug 8.

Department of Psychology, Arcadia University, 450 South Easton Road, Glenside, PA, 19038, USA.

The complex nature of self-disclosure poses challenges for genetic counselors in clinical practice. We examined the impact of genetic counselor self-disclosure on observer perceptions of the counselor. In an online analog study, 123 participants watched a 3-minute video of a simulated genetic counseling session. Read More

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http://dx.doi.org/10.1007/s10897-018-0283-zDOI Listing
August 2018
1 Read