Genetic counseling in South Africa: A growing profession.

The Genetic Counseling profession in South Africa (SA) was established 35 years ago when the first degree program was initiated at the University of the Witwatersrand in 1989. A second program was developed at the University of Cape Town in 2004. This article aims to describe the development of the profession in SA, with a focus on the last decade.

The global status of genetic counselors in 2023: What has changed in the past 5 years?

Purpose: The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023.

Methods: We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world.

"We are just not sure what that means or if it's relevant": Uncertainty when gathering family history information in South African prenatal genetic counseling consultations.

Uncertainty impacts the process of health communication. The management and tolerance of uncertainty during healthcare discussions have gained renewed focus due to the growing challenge of obtaining and delivering complex health information, and the offer of health services in diverse contexts. Prenatal genetic counseling (GC) provides education, support and testing options for patients and couples facing a genetic or congenital diagnosis or risk during pregnancy.

Routine immunization experience and practices during the COVID-19 pandemic of caregivers attending a tertiary hospital in Cape Town.

Introduction: Immunizations are successful, cost-effective interventions for the control of infectious diseases and preventing mortality. Lockdown restrictions during the COVID-19 pandemic had adverse effects on child-health including access to immunizations. Our study aimed to document immunization status, describe caregiver experiences around accessing immunizations during the COVID-19 pandemic and identify any significant factors associated with immunization status.

COVID-19 lockdown effect on healthcare utilization and in-hospital mortality in children under 5 years in Cape Town, South Africa: a cross-sectional study.

Background: COVID-19 pandemic measures resulted in the de-escalation of non-COVID-19 healthcare provision.

Methods: A retrospective cross-sectional study of routinely collected data was done to investigate the effect of COVID-19 policies on the healthcare utilization and mortality of children younger than 5 years in Eastern Cape Town, South Africa. We compared visits to primary and urgent care facilities, hospitalization, in-hospital deaths, and vaccine uptake from 1 January to 31 December 2020 to similar periods in 2018 and 2019.

Element-Specific Study of Magnetic Anisotropy and Hardening in SmCoCu Thin Films.

This work investigates the effect of copper substitution on the magnetic properties of SmCo thin films synthesized by molecular beam epitaxy. A series of thin films with varying concentrations of Cu were grown under otherwise identical conditions to disentangle structural and compositional effects on the magnetic behavior. The combined experimental and theoretical studies show that Cu substitution at the Co sites not only stabilizes the formation of the SmCo structure but also enhances magnetic anisotropy and coercivity.

A balancing act: Non-directive communication, risk perceptions, and meeting patient needs in genetic counseling: A South African case study.

Genetic counseling (GC) traditionally follows a non-directive counseling approach. Although a cornerstone of GC teaching and theory, there has been debate on whether GC is, can be, or should be a patient-led service due to challenges in practice, as well as the advancement and complexity of genetic testing. Personal risk perceptions and patient expectations within particular contexts may further affect how genetic counselors discuss risk information, even while attempting to remain neutral.

International genetic counseling: What do genetic counselors actually do?

We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genetic counselors in different countries and regions. We obtained 189 useable responses representing 22 countries, which are included in an aggregate manner.

The decision-making process of pregnant individuals offered termination of pregnancy for serious congenital abnormalities.

Objectives: This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities.

Methods: The study design was an exploratory qualitative study. The sample for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy.

Evaluation of a novel skin care product for the management of chemotherapy-related dermatologic toxicities: A quasi-experimental study.

Purpose: Evaluate the efficacy of a novel skincare product for the management of chemotherapy-related dermatological toxicities.

Methods: A monocentric, prospective, interventional, open-label, pretest-posttest, single-group study with cancer patients receiving chemotherapy (n = 100) was set up. All enrolled patients applied the emollient daily to their face and body for three weeks.

Comparison of paediatric infectious disease deaths in public sector health facilities using different data sources in the Western Cape, South Africa (2007-2021).

Background: Routinely collected population-wide health data are often used to understand mortality trends including child mortality, as these data are often available more readily or quickly and for lower geographic levels than population-wide mortality data. However, understanding the completeness and accuracy of routine health data sources is essential for their appropriate interpretation and use. This study aims to assess the accuracy of diagnostic coding for public sector in-facility childhood (age < 5 years) infectious disease deaths (lower respiratory tract infections [LRTI], diarrhoea, meningitis, and tuberculous meningitis [TBM]) in routine hospital information systems (RHIS) through comparison with causes of death identified in a child death audit system (Child Healthcare Problem Identification Programme [Child PIP]) and the vital registration system (Death Notification [DN] Surveillance) in the Western Cape, South Africa and to calculate admission mortality rates (number of deaths in admitted patients per 1000 live births) using the best available data from all sources.

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16-year experience from a public hospital in South Africa.

Objective: Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. We aimed to review all prenatally diagnosed cases of T18 between January 2006 and December 2021.

Durable Responses to Chemotherapy in Patients with Metastatic Soft-Tissue Sarcoma.

Introduction: Patients with metastatic soft-tissue sarcoma generally have a poor prognosis. Although chemotherapy is associated with improved overall survival in these patients, long-term benefit is rare.

Case Report: We report on 2 patients with metastatic soft-tissue sarcoma who achieved a complete response to chemotherapy, without any local therapy, and had no signs of disease progression more than a decade after discontinuing treatment.

Continuous illumination picosecond imaging using a delay line detector in a transmission electron microscope.

Progress towards analysing transitions between steady states demands improvements in time-resolved imaging, both for fundamental research and for applications in information technology. Transmission electron microscopy is a powerful technique for investigating the atomic structure, chemical composition and electromagnetic properties of materials with high spatial resolution and precision. However, the extraction of information about dynamic processes in the ps time regime is often not possible without extensive modification to the instrument while requiring careful control of the operation conditions to not compromise the beam quality.

Genetic counseling experiences at the University of Cape Town during COVID-19.

Soon after the first COVID-19 case was reported in December 2019 in Wuhan, China, South Africa announced a national lockdown in an attempt to curb the spread of the disease. Under national lockdown, businesses were closed, learning institutions moved to emergency remote teaching (ERT), and hospitals reduced their patient loads. De-escalation of clinical services at Groote Schuur and Red Cross War Memorial Children's Hospitals affected Genetic Counseling Services and resulted in a decrease in in-person and an increase in telecounseling sessions.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

Purpose: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.

Corrigendum to "Clinical Presentation, Natural History, and Therapeutic Approach in Patients with Solitary Fibrous Tumor: A Retrospective Analysis".

[This corrects the article DOI: 10.1155/2020/1385978.].

Magnetic Field Mapping using Off-Axis Electron Holography in the Transmission Electron Microscope.

Off-axis electron holography is a powerful technique that involves the formation of an interference pattern in a transmission electron microscope (TEM) by overlapping two parts of an electron wave, one of which has passed through a region of interest on a specimen and the other is a reference wave. The resulting off-axis electron hologram can be analyzed digitally to recover the phase difference between the two parts of the electron wave, which can then be interpreted to provide quantitative information about local variations in electrostatic potential and magnetic induction within and around the specimen. Off-axis electron holograms can be recorded while a specimen is subjected to external stimuli such as elevated or reduced temperature, voltage, or light.

The experience of Preimplantation Genetic Testing (PGT) among Muslim couples in Oman in the Middle East.

Preimplantation genetic testing (PGT) is an alternative reproductive technology integrated with in vitro fertilization (IVF). It is a well-established technique offering a reproductive option for families at a high risk of transmitting a genetic disorder, allowing them to avoid making a decision about termination of an affected pregnancy (TOP). In Arab communities and particularly in Oman, where TOP is not favored under the majority of implemented Muslim law, termination of pregnancy for fetal indications is not always possible.

Clinical Presentation, Natural History, and Therapeutic Approach in Patients with Solitary Fibrous Tumor: A Retrospective Analysis.

Background: Solitary fibrous tumor (SFT) is a rare variant of soft tissue sarcoma (STS). . We reviewed SFT patients (pts) treated at our institution between 12/1990 and 09/2017.

Deterministic Field-Free Skyrmion Nucleation at a Nanoengineered Injector Device.

Magnetic skyrmions are topological solitons promising for applications as encoders for digital information. A number of different skyrmion-based memory devices have been recently proposed. In order to demonstrate a viable skyrmion-based memory device, it is necessary to reliably and reproducibly nucleate, displace, detect, and delete the magnetic skyrmions, possibly in the absence of external applied magnetic fields, which would needlessly complicate the device design.

Video-recording complex health interactions in a diverse setting: Ethical dilemmas, reflections and recommendations.

Video-recording healthcare interactions provides important opportunities for research and service improvement. However, this method brings about tensions, especially when recording sensitive topics. Subsequent reflection may compel the researcher to engage in ethical and moral deliberations.

"There is a chance for me" - Risk communication in advanced maternal age genetic counseling sessions in South Africa.

Providing risk information is central to genetic counseling. Many studies have examined risk communication, but the focus has been on professional and patient perspectives. Less information is available on risk communication in interactions.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession.