1,709 results match your criteria Journal of Genetic Counseling [Journal]


Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack".

J Genet Couns 2019 Apr 10. Epub 2019 Apr 10.

Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. Read More

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http://dx.doi.org/10.1002/jgc4.1110DOI Listing

Sickle cell carriers' unmet information needs: Beyond knowing trait status.

J Genet Couns 2019 Apr 10. Epub 2019 Apr 10.

Department of Family Medicine, Office of Academic Affairs, University of Texas Medical Branch, Galveston, Texas.

Benefits of identifying sickle cell disease (SCD) carriers include detection of at-risk couples who may be informed on reproductive choices. Studies consistently report insufficient knowledge about the genetic inheritance pattern of SCD among people with sickle cell trait (SCT). This study explored perspectives of adults with SCT on the information needed to make an informed reproductive decision and the recommendations for communicating SCT information. Read More

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http://dx.doi.org/10.1002/jgc4.1124DOI Listing

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

J Genet Couns 2019 Apr 14;28(2):240-250. Epub 2018 Dec 14.

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://doi.wiley.com/10.1007/s10897-018-0298-5
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http://dx.doi.org/10.1007/s10897-018-0298-5DOI Listing
April 2019
3 Reads

INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.

J Genet Couns 2019 Apr;28(2):181

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/jgc4.1113DOI Listing

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

J Genet Couns 2019 Apr 14;28(2):477-490. Epub 2018 Dec 14.

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://dx.doi.org/10.1007/s10897-018-0286-9DOI Listing
April 2019
1 Read

Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.

J Genet Couns 2019 Apr;28(2):438-448

HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.

Advances in genomic knowledge and technology have increased the use of comprehensive clinical sequencing tests. Genome sequencing has established utility for diagnosing patients with rare, undiagnosed diseases as well as interest in an elective context, without a clinical indication for testing. The Smith Family Clinic for Genomic Medicine, LLC in Huntsville, AL is a private practice genomic medicine clinic caring for both diagnostic (79%) and elective (21%) patients. Read More

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http://dx.doi.org/10.1002/jgc4.1114DOI Listing

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

J Genet Couns 2019 Apr;28(2):213-228

Center for Undiagnosed Diseases, Stanford University, Stanford, California.

There are approximately 7,000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis. Read More

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http://dx.doi.org/10.1002/jgc4.1119DOI Listing

Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit.

J Genet Couns 2019 Apr 31;28(2):263-272. Epub 2018 Dec 31.

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

As genome-wide sequencing (GWS; exome sequencing [ES] and whole genome sequencing [WGS]) is implemented more frequently in the neonatal intensive care unit (NICU), it is important to understand parents' opinions regarding GWS, and views toward incidental findings (IFs) (also known as secondary findings). RAPIDOMICS was a pilot study of rapid trio-based (biological parents and neonate) ES for 25 neonates with a suspected genetic condition at the BC Women's Hospital NICU. As part of RAPIDOMICS, we explored parents' motivations and concerns regarding ES of their child, uptake of IFs for themselves, and rates of anxiety and depression at the time of pre-test genetic counseling via administration of the Generalized Anxiety Disorder Assessment 7 and Patient Health Questionnaire 8. Read More

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http://dx.doi.org/10.1002/jgc4.1074DOI Listing
April 2019
2 Reads

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

J Genet Couns 2019 Apr 14;28(2):343-354. Epub 2018 Dec 14.

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
April 2019
4 Reads

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

J Genet Couns 2019 Apr 20;28(2):334-342. Epub 2018 Dec 20.

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://dx.doi.org/10.1007/s10897-018-0289-6DOI Listing

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.

J Genet Couns 2019 Apr;28(2):283-291

Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.

Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers failing to retrieve and act upon results, as many patients are discharged before results return. The development of rapid turn-around-times (TATs) for genomic testing has begun to shift this paradigm. Read More

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http://dx.doi.org/10.1002/jgc4.1116DOI Listing
April 2019
1 Read

Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world.

J Genet Couns 2019 Apr;28(2):456-465

Helix Opco, LLC, San Carlos, California.

The practice of genetic counseling is going to be impacted by the public's expectation that goods, services, information, and experiences happen on demand, wherever and whenever people want them. Building from trends that are currently taking shape, this article looks just over a decade into the future-to 2030-to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare. We build from the prediction that a large portion of the general public will have access to their digitized whole genome sequence anytime, any place, on any device. Read More

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http://dx.doi.org/10.1002/jgc4.1123DOI Listing

Current genetic counseling practice in the United States following positive non-invasive prenatal testing for sex chromosome abnormalities.

J Genet Couns 2019 Apr 4. Epub 2019 Apr 4.

UTHealth Graduate School of Biomedical Sciences, MD Anderson Cancer Center, The University of Texas, Houston, Texas.

The purpose of this study was to describe current genetic counseling practice in the United States following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). Screening for SCAs can be confounded by confined placental mosaicism, natural loss of the X chromosome from maternal cells during aging, and undiagnosed maternal SCA or copy number variant (CNV). Furthermore, with the exception of 45,X, individuals with SCAs usually have no ultrasound or postnatal findings. Read More

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http://dx.doi.org/10.1002/jgc4.1122DOI Listing
April 2019
3 Reads

New developmental syndromes: Understanding the family experience.

J Genet Couns 2019 Apr 2;28(2):202-212. Epub 2019 Apr 2.

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

Increased application of next generation sequencing has led to the discovery of a multitude of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for exome sequencing from 25% originally to 40% currently. Owing to the recent recognition of these syndromes, as well as the types of large-scale studies (with limited phenotype information) often making these discoveries, these disorders may be poorly characterized clinically. As a result there is very limited information and disorder-specific support available to patients and families. Read More

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http://doi.wiley.com/10.1002/jgc4.1121
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http://dx.doi.org/10.1002/jgc4.1121DOI Listing
April 2019
2 Reads

Exploring prenatal genetic counselors' perceptions of abortion laws in restrictive states.

J Genet Couns 2019 Mar 25. Epub 2019 Mar 25.

Center for Genetic Medicine, Northwestern University, Chicago, Illinois.

In many states, abortion laws are becoming increasingly restrictive. Prenatal genetic counselors often see patients after the diagnosis of a fetal abnormality or genetic disorder and discuss the option of termination of pregnancy. The purpose of this study was to understand prenatal genetic counselors' perspectives on how state abortion laws impact their practice. Read More

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http://dx.doi.org/10.1002/jgc4.1120DOI Listing

The relationship between genetic counseling student self-efficacy and clinical training.

J Genet Couns 2019 Mar 25. Epub 2019 Mar 25.

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Clinical experience is an important part of the training required in genetic counseling graduate programs, but little evidence exists for the number of clinical cases a student may need in order to confidently perform skills. The purpose of this study was to further describe the relationship between genetic counseling student self-efficacy and the number of core cases students log during their training. In this study, second year genetic counseling students nearing the end of their training completed a questionnaire that included the Genetic Counseling Self-efficacy Scale (GCSES) and questions related to the students' clinical experiences. Read More

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http://dx.doi.org/10.1002/jgc4.1115DOI Listing

Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center.

J Genet Couns 2019 Mar 25. Epub 2019 Mar 25.

Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Left ventricular outflow tract obstruction (LVOTO) malformations exhibit higher heritability than other cardiac lesions and cardiac screening is encouraged for first-degree relatives. This study sought to determine the uptake of familial cardiac screening in families with an infant with an LVOTO and assess parental knowledge regarding genetics and heritability of LVOTO. A chart review of the period 2010-2015 identified 69 families who received genetic counseling regarding a diagnosis of LVOTO in an infant. Read More

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http://dx.doi.org/10.1002/jgc4.1117DOI Listing

Impact of the physical environment on patient outcomes of genetic counseling: An exploratory study.

J Genet Couns 2019 Mar 21. Epub 2019 Mar 21.

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

The psychology literature shows that the physical space in which counseling sessions are conducted influences outcomes of the interaction. However, this phenomenon has not been quantitatively explored in genetic counseling (GC). Through retrospective review of naturalistic data from a psychiatric GC clinic (where data on patient outcomes are routinely tracked from pre- to 1 month post-appointment using the Genetic Counseling Outcome Scale (GCOS, empowerment) and the Illness Management Self Efficacy Scale (IMSES), we tested the hypotheses that patients seen in comfortably furnished counseling (C-type) rooms would have greater increases in (a) empowerment and (b) self-efficacy after GC than patients seen in medically oriented (M-type) rooms. Read More

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http://dx.doi.org/10.1002/jgc4.1111DOI Listing

Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening.

J Genet Couns 2019 Mar 19. Epub 2019 Mar 19.

Department of Obstetrics and Gynecology, Northwestern Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1002/jgc4.1118DOI Listing

Genetics professionals' attitudes toward prenatal exome sequencing.

J Genet Couns 2019 Apr 19;28(2):229-239. Epub 2019 Mar 19.

Center for Genetic Medicine, Northwestern University, Chicago, Illinois.

Prenatal exome sequencing (ES) currently has limited use in the clinical setting, but research suggests that it has added diagnostic utility over karyotyping and array techniques for prenatal diagnosis of fetuses presenting with ultrasound abnormalities. The purpose of this study was to assess the attitudes of genetics professionals toward the clinical implementation of prenatal ES in order to guide development of professional guidelines. A survey was developed using themes identified in previous qualitative studies and was distributed to members of the American College of Medical Genetics and Genomics (ACMG), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC). Read More

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http://dx.doi.org/10.1002/jgc4.1112DOI Listing
April 2019
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Genetic counseling for consumer-driven whole exome and whole genome sequencing: A commentary on early experiences.

J Genet Couns 2019 Apr 12;28(2):449-455. Epub 2019 Mar 12.

GenCipher Genetic Counseling, Princeton, New Jersey.

Counseling after consumer-driven whole exome sequencing (WES) and whole genome sequencing (WGS) presents challenges for genetic counselors as availability of this testing increases. There are no standard practice guidelines and limited resources for genetic counselors in this area, but consumer demand for counseling and data interpretation exists and is likely to grow along with testing opportunities. In this paper, we comment upon our experiences as three independent, private practice genetic counselors who have provided counseling services for clients with WES/WGS reports and data. Read More

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http://dx.doi.org/10.1002/jgc4.1109DOI Listing

Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.

J Genet Couns 2019 Mar 7. Epub 2019 Mar 7.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. Read More

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http://dx.doi.org/10.1002/jgc4.1108DOI Listing

Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).

J Genet Couns 2019 Mar 7. Epub 2019 Mar 7.

Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio.

Pathogenic germline mutations in the BRCA1 or BRCA2 genes are associated with an elevated lifetime risk for breast (50%-85% risk) and ovarian cancer (20%-40% risk). Genome-wide association studies have identified over 100 genetic variants associated with modified breast and/or ovarian cancer risk in BRCA1 and BRCA2 carriers. Risk models generated based on these variants have shown that these genetic modifiers strongly influence absolute risk of developing breast or ovarian cancer in BRCA mutation carriers. Read More

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http://dx.doi.org/10.1002/jgc4.1079DOI Listing

Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.

J Genet Couns 2019 Apr 5;28(2):428-437. Epub 2019 Mar 5.

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

The increasing availability of exome sequencing to the general ("healthy") population raises questions about the implications of genomic testing for individuals without suspected Mendelian diseases. Little is known about this population's motivations for undergoing exome sequencing, their expectations, reactions, and perceptions of utility. In order to address these questions, we conducted in-depth semi-structured interviews with 12 participants recruited from a longitudinal multi-omics profiling study that included exome sequencing. Read More

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http://dx.doi.org/10.1002/jgc4.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456364PMC

Genetic counselor workforce generational diversity: Millennials to Baby Boomers.

J Genet Couns 2019 Mar 2. Epub 2019 Mar 2.

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

There are currently three generations of individuals that make up the genetic counselor workforce: Baby-Boomers, Generation X, and Millennials. These generations are presumed to be shaped by the historical, cultural, and social events that occurred during critical developmental periods. Understanding the underlying perceptions and viewpoints of genetic counselors regarding the multigenerational workforce may facilitate successful working relationships as well as recognition of the perceived unique characteristics that each generation offers. Read More

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http://dx.doi.org/10.1002/jgc4.1107DOI Listing

Clinical models of telehealth in genetics: A regional telegenetics landscape.

J Genet Couns 2019 Mar 2. Epub 2019 Mar 2.

NYMAC Regional Genetics Network, Wadsworth Center, Albany, New York.

The use of live video consultations in genetics has been shown to improve patient access with high satisfaction; however, little is known about the current landscape of clinical telehealth models in the field of genetics (i.e., telegenetics). Read More

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http://dx.doi.org/10.1002/jgc4.1088DOI Listing

Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives.

J Genet Couns 2019 Mar 1. Epub 2019 Mar 1.

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

Infertility genetic counselors (GCs) work with patients struggling to become pregnant who desire genetic testing of embryos and preconception genetic testing or carrier screening. Because personal and professional challenges have not been examined in this relatively new genetic counseling specialty, we investigated the difficulties infertility GCs face in their professional roles. Past and present infertility GCs in patient-facing roles were recruited through the National Society of Genetic Counselors. Read More

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http://dx.doi.org/10.1002/jgc4.1106DOI Listing

Secondary findings: How did we get here, and where are we going?

J Genet Couns 2019 Apr 1;28(2):326-333. Epub 2019 Mar 1.

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Read More

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http://dx.doi.org/10.1002/jgc4.1098DOI Listing

Genetic counseling supervisor strategies: An elaboration of the Reciprocal-Engagement Model of Supervision.

J Genet Couns 2019 Feb 23. Epub 2019 Feb 23.

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

Clinical supervision plays a key role in the training of genetic counselor practitioners. The Reciprocal-Engagement Model of Supervision (REM-S) is a recently published model of genetic counseling supervision centered on the supervisor-student relationship. The REM-S comprises five tenets and 16 goals that reciprocally interact to achieve three broad supervision outcomes. Read More

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http://dx.doi.org/10.1002/jgc4.1057DOI Listing
February 2019

Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications.

J Genet Couns 2019 Feb 21. Epub 2019 Feb 21.

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

The introduction of cell-free DNA screening, or non-invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell-free DNA screening and indication and referral patterns for genetic counseling at a large US academic medical center by comparing the percentage of each counseling indication between the time period prior to the introduction of cell-free DNA screening (2006-2011) and following its introduction (2012-2016) using multivariable Poisson regression models. Genetic counseling indications for positive carrier screens, average risk patients, abnormal ultrasound findings, and family history indications were significantly higher following the introduction of NIPT while advanced maternal age and abnormal maternal serum screening indications dropped significantly. Read More

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http://dx.doi.org/10.1002/jgc4.1095DOI Listing
February 2019
2 Reads

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

J Genet Couns 2019 Apr 19;28(2):367-377. 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

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

J Genet Couns 2019 Apr 18;28(2):388-397. 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

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 Apr 14;28(2):398-406. 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

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

J Genet Couns 2019 Apr 11;28(2):292-303. 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
April 2019
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Factors complicating the informed consent process for whole exome sequencing in neonatal and pediatic intensive care units.

J Genet Couns 2019 Apr 8;28(2):256-262. 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
April 2019
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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 Apr 2;28(2):355-366. 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

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

J Genet Couns 2019 Apr 1;28(2):466-476. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456376PMC
April 2019
1 Read

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

J Genet Couns 2019 Apr 24;28(2):194-201. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456366PMC
April 2019
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Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.

J Genet Couns 2019 Apr 24;28(2):304-312. 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
April 2019
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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