Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - July 8, 2017 Category: Genetics & Stem Cells Source Type: research
Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
AbstractDevelopments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices b...
Source: Journal of Genetic Counseling - July 4, 2017 Category: Genetics & Stem Cells Source Type: research
Family Communication, Risk Perception and Cancer Knowledge of Young Adults from BRCA1/2 Families: a Systematic Review
AbstractUnderstanding challenges in familial communication of cancer risk has informed genetic service delivery. Parent-child interactions have received considerable attention, but few studies focus on young adulthood experiences withinBRCA1/2 families. Young adults are approaching, or at a life stage where awareness of hereditary cancer risk is vital for informed choice of risk management options. This review assesses family communication, risk perception and cancer knowledge held by 18 –40 year old individuals who have a parent with aBRCA1/2 gene mutation or carry the gene mutation themselves. Thirteen papers met the ...
Source: Journal of Genetic Counseling - June 30, 2017 Category: Genetics & Stem Cells Source Type: research
Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings
AbstractThere are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al.,The Israel Medical Association Journal: IMAJ, 16(11), 723 –724,2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by...
Source: Journal of Genetic Counseling - June 30, 2017 Category: Genetics & Stem Cells Source Type: research
Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA -Associated Cancers? An Exploratory Analysis of Medical Records
AbstractTheFMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated thatBRCA1/2 positive women are more likely to have anFMR1 genotype with one low CGG allele, and that women with bothFMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men. Therefore, this study aimed to examine cancer incidence and relat...
Source: Journal of Genetic Counseling - June 30, 2017 Category: Genetics & Stem Cells Source Type: research
Women ’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results
AbstractIncreasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inve...
Source: Journal of Genetic Counseling - June 30, 2017 Category: Genetics & Stem Cells Source Type: research
Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy
AbstractDevelopments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to...
Source: Journal of Genetic Counseling - June 30, 2017 Category: Genetics & Stem Cells Source Type: research
Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives
AbstractThe Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors ’ experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors ’ interv...
Source: Journal of Genetic Counseling - June 28, 2017 Category: Genetics & Stem Cells Source Type: research
Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies
AbstractAs the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al.,Journal of Genetic Counseling,2015); an...
Source: Journal of Genetic Counseling - June 22, 2017 Category: Genetics & Stem Cells Source Type: research
“If It Helps, It’s Worth a Try”: an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites
AbstractFew studies have explored the public ’s views of genetic counseling services, and even fewer focus on founder populations with high prevalence of genetic disease, such as Hutterites. The Hutterites are an Anabaptist religious group grounded in a strong Christian faith. The primary aim of this study was to assess Hutterites’ views o f genetic counseling services. A secondary aim was to compare their views to those obtained in a study of rural Midwestern U.S. residents (Riesgraf et al.,Journal of Genetic Counseling, 24(4), 565-579,2015). One-hundred eleven individuals from southern Manitoba Hutterite colonies com...
Source: Journal of Genetic Counseling - June 14, 2017 Category: Genetics & Stem Cells Source Type: research
Invasive Prenatal Diagnostic Testing Recommendations are Influenced by Maternal Age, Statistical Misconception and Perceived Liability
This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician’s assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37. Amniocentesis recommendations were reversed for the younger (‘yes’ regardless of tes...
Source: Journal of Genetic Counseling - June 14, 2017 Category: Genetics & Stem Cells Source Type: research
The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis
AbstractPsychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect. An extensive electronic searc...
Source: Journal of Genetic Counseling - June 14, 2017 Category: Genetics & Stem Cells Source Type: research
The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later
We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family ’s clinical histories and the novelEFTUD2 variant identified, c.1297_1298delAT (p.Met433Valfs*17), add to the literature about MFDM. This case presented several genetic counseling challenges and highlights that “the patient” can be multiple family members. We discuss testing considerations for an unknown disorder complicated by the time constraint of th...
Source: Journal of Genetic Counseling - June 13, 2017 Category: Genetics & Stem Cells Source Type: research
Perspectives and Practices of Athletic Trainers and Team Physicians Implementing the 2010 NCAA Sickle Cell Trait Screening Policy
AbstractSickle cell trait (SCT) is usually benign. However, there are some conditions that may lead to SCT-related problems and put athletes with the trait at particular risk. In 2010 the National Collegiate Athletic Association (NCAA) issued a policy that required all Division I (DI) student-athletes to confirm their SCT status or sign a liability waiver to opt out of testing. Athletic trainers and team physicians play key roles in the policy implementation and we examined their perceptions and practices. Between December 2013 and March 2014 we interviewed 13 head athletic trainers and team physicians at NCAA Division I c...
Source: Journal of Genetic Counseling - June 3, 2017 Category: Genetics & Stem Cells Source Type: research
Decisions Regarding Pregnancy Termination Due to β-Thalassemia Major: a Mixed-Methods Study in Sistan and Baluchestan, Iran
AbstractIn the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients’ medical records were analysed, whil e the qualitative phase was performed using a grounded theory method. Interviews were performed with nine pregnant women who had decided against pre...
Source: Journal of Genetic Counseling - May 3, 2017 Category: Genetics & Stem Cells Source Type: research
