Opportunities to optimize patient experience in the in vitro fertilization (IVF) clinic and the role of genetic counselors.

Purpose: To understand factors influencing patient satisfaction with genetics education and psychosocial support in an IVF clinic without a genetic counselor (GC), and how the role of a GC may fill gaps in care using a mixed-method cross-sectional study.

Methods: Previous IVF patients (n = 133) completed a survey assessing satisfaction with genetics education and psychosocial support and decisional conflict about genetic testing. Kruskal-Wallis tests were used to compare satisfaction level to demographic and clinical variables.

Where is the "counseling" in prenatal genetic counseling?

Objective: Prenatal genetic testing is routinely offered to all pregnant patients in the United States and is variably offered to certain pregnant populations globally [1]. To achieve value-based, informed decision-making, we argue for a shift away from the predominant "teaching" model of genetic counseling practice that prioritizes information and counselor dominance, toward a "counseling" model of practice that prioritizes the patient's narrative, values and beliefs.

Discussion: Since prenatal testing began, genetic counseling has aimed to facilitate informed decision-making.

Differences in prenatal aneuploidy screening among African-American women with hemoglobin S variants.

Objective: It has been shown that hemoglobinopathies increase the risk of pregnancy complications and placental dysfunction. This could alter the placental analytes examined during prenatal aneuploidy screening. Our objective was to determine whether there is a difference in maternal serum screening results for women with hemoglobin S variants (AS, SS, SC, S/beta thalassemia) compared with women with normal hemoglobin (AA).

Genomic Competencies for Nursing Practice: Implications for Nursing Leadership.

Nurses must have appropriate knowledge and skills to provide safe and effective nursing care in recognition of evolving science. Knowledge of genomics is required to ensure appropriate referral and education of patients who would benefit from genetic services. This article describes the process the Veterans Healthcare Administration's (VHA's) Office of Nursing Services used to determine the nursing genomic competencies appropriate for VHA nurses and identify available resources for educating nurses on these nursing competencies and a strategic plan for long-term implementation.

Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.

Objective: To identify single-nucleotide polymorphisms (SNPs) in specific candidate genes associated with patent ductus arteriosus in term infants.

Study Design: We conducted an initial family-based, candidate gene study to analyze genotype data from DNA samples obtained from 171 term infants and their parents enrolled in the National Birth Defects Prevention Study (NBDPS). We performed transmission disequilibrium testing (TDT) using a panel of 55 SNPs in 17 genes.

Million Veteran Program: A mega-biobank to study genetic influences on health and disease.

Objective: To describe the design and ongoing conduct of the Million Veteran Program (MVP), as an observational cohort study and mega-biobank in the Department of Veterans Affairs (VA) health care system.

Study Design And Setting: Data are being collected from participants using questionnaires, the VA electronic health record, and a blood sample for genomic and other testing. Several ongoing projects are linked to MVP, both as peer-reviewed research studies and as activities to help develop an infrastructure for future, broad-based research uses.

Genomics for Nursing Education and Practice: Measuring Competency.

Background: Nurses lack genome literacy, skill, and self-confidence in applying genomics to health care. Standardized curricula and evaluation tools are needed for wide spread uptake and application of genome science in nursing education, practice, and research.

Aim: To determine whether psychometrically robust survey instruments exist to assess knowledge, skills, attitudes, and self-confidence in applying genomic nursing competency among students and registered nurses.

Genetic counselors' implicit racial attitudes and their relationship to communication.

Objective: Implicit racial attitudes are thought to shape interpersonal interactions and may contribute to health-care disparities. This study explored the relationship between genetic counselors' implicit racial attitudes and their communication during simulated genetic counseling sessions.

Method: A nationally representative sample of genetic counselors completed a web-based survey that included the Race Implicit Association Test (IAT; Greenwald, McGhee, & Schwartz, 1998; Cooper et al.

Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study.

Background: Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated with PTB in oxytocin pathway genes whose role in parturition is well known.

Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth.

The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term).

Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.

This study is a retrospective, case control study involving 535 preterm infants examining the roles of sequence polymorphisms in genes that mediate host immune responses to bacterial infection in newborn infants. A total of 49 single nucleotide polymorphisms (SNPs) in 19 candidate genes including inflammatory cytokines (IL6, IL10, IL1B, and TNF), cytokine receptors (IL1RN), toll-like receptors (TLR2, TLR4, and TLR5), and cell surface receptors (CD14) were genotyped. Subjects were stratified into three groups (sepsis, suspected sepsis, and control).

Determination of genetic predisposition to patent ductus arteriosus in preterm infants.

Objective: Patent ductus arteriosus is a common morbidity associated with preterm birth. The incidence of patent ductus arteriosus increases with decreasing gestational age to approximately 70% in infants born at 25 weeks' gestation. Our major goal was to determine if genetic risk factors play a role in patent ductus arteriosus seen in preterm infants.

Genetic contributions to the development of retinopathy of prematurity.

There is growing support for the role of genetic factors in the development of retinopathy of prematurity (ROP), a serious visual morbidity resulting from preterm birth. We used both candidate gene and data-mining approaches to investigate the role of genetic polymorphisms in the development of ROP. Our study population consisted of 330 infants, less than 32 wk gestation, and their parents.