Cell-Free DNA Analysis for the Determination of Fetal Red Blood Cell Antigen Genotype in Individuals With Alloimmunized Pregnancies.

Objective: To evaluate the accuracy of next-generation sequencing-based quantitative cell-free DNA analysis for fetal antigen genotyping in individuals with alloimmunized pregnancies undergoing clinical testing in practices across the United States as early as 10 weeks of gestation, with the objective of identifying individuals with pregnancies at risk for hemolytic disease of the fetus and newborn and guiding management.

Methods: This prospective cohort study included patients with alloimmunized pregnancies undergoing clinical fetal antigen cell-free DNA analysis between 10 0/7 and 37 0/7 weeks of gestation at 120 clinical sites. Both the pregnant person with the alloimmunized pregnancy and the neonates resulting from the pregnancies were included.

Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.

Objective: Carrier screening with reflex to single-gene noninvasive prenatal testing (sgNIPT) is an alternative approach for identifying pregnancies at risk for inherited autosomal recessive conditions without the need for a sample from the reproductive partner. This study is the largest clinical validation of this approach in a general population setting.

Methods: The clinical performance of carrier screening with reflex to sgNIPT for cystic fibrosis, spinal muscular atrophy, alpha thalassemias, and beta hemoglobinopathies was assessed by collecting pregnancy outcome data on patients who underwent this testing and comparing the neonatal outcome to the assay-predicted fetal risk.

Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fy antigens.

We developed and validated a next generation sequencing-(NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, K (Kell), and Fy (Duffy) fetal antigen genotypes from maternal blood samples in the ethnically diverse U.S. population.

Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost.

Objective: To evaluate the clinical benefits and achievable cost savings associated with the adoption of a carrier screen with reflex single-gene non-invasive prenatal test (sgNIPT) in prenatal care.

Method: A decision-analytic model was developed to compare carrier screen with reflex sgNIPT (maternal carrier status and fetal risk reported together) as first-line carrier screening to the traditional carrier screening workflow (positive maternal carrier screen followed by paternal screening to evaluate fetal risk). The model compared the clinical outcomes and healthcare costs associated with the two screening methods.

40 years and beyond for the National Society of Genetic Counselors: Reflections on genetic counseling practice.

The National Society of Genetic Counselors (NSGC) was established in 1979 and has grown from a small dedicated group of genetic counselors to over 5,000 certified genetic counselors in 2019. During this time period, there have been tremendous advances in the practice of genetic counseling, the availability of genetic testing, and the use of technology. These advances have significantly changed our roles and responsibilities and have contributed to the expansion and diversification of our field in clinical and non-clinical work settings.

Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas.

As the Latino population of the United States continues to increase, the specific needs of Latinos in genetic counseling continue to be unmet. Using culturally tailored genetic counseling responsive to the needs of the patient can assist in building rapport in genetic counseling sessions. We aimed to investigate the relationship between acculturation, prenatal care, genetic testing experiences, and expectations for prenatal care in an immigrant Latino population.

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.

Genetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings.

Genetic Counseling Overview for the Obstetrician-Gynecologist.

This article outlines a framework for the process of genetic counseling in the primary obstetric and gynecologic setting. Specifics regarding risk assessment, family history evaluation, genetic testing, and pretest and posttest counseling are discussed. Additionally, the article provides strategies for counseling patients effectively and addresses when a referral for additional genetic counseling by a specialized genetics provider should be considered.

Genesurance Counseling: Patient Perspectives.

Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or "genesurance," topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations.

Physicians' Awareness and Utilization of Genetic Services in Texas.

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to genetic tests and services often hinges on physicians' ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results.

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

As of May 2017, there were 4242 Certified Genetic Counselors (CGC) (American Board of Genetic Counseling, Inc. 2017) and 41 graduate-level genetic counseling training programs (Accreditation Council for Genetic Counseling 2017) in North America, and the demand for CGCs continues to increase. In the Fall of 2015 the Genetic Counselor Workforce Working Group, comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) commissioned a formal workforce study to project supply of and demand for CGCs through 2026.

Relieving the Bottleneck: An Investigation of Barriers to Expansion of Supervision Networks at Genetic Counseling Training Programs.

Rapid growth in the demand for genetic counselors has led to a workforce shortage. There is a prevailing assumption that the number of training slots for genetic counseling students is linked to the availability of clinical supervisors. This study aimed to determine and compare barriers to expansion of supervision networks at genetic counseling training programs as perceived by supervisors, non-supervisors, and Program Directors.

Maternal serum screening: results disclosure, anxiety, and risk perception.

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk.

Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing?

Objective: To determine whether there is a difference in anxiety levels in women referred for soft ultrasound findings, AMA, and abnormal serum marker screens, all of whom have a similar risk for chromosome abnormalities, in order to provide an understanding of patients' anxiety, which may enhance the genetic counseling process.

Methods: Two self-administered questionnaires were completed after the genetic counseling session. Participants were recruited from multiple prenatal clinics throughout Houston, Texas.